91042 sets of genes co-occuring with biological terms in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
| Gene Set |
Description |
|
foxq1
|
|
|
catechols
|
Any compound containing an o-diphenol component.
|
|
vlbw
|
|
|
junctionlike
|
|
|
localizes
|
|
|
circuitry
|
|
|
neurl4
|
neuralized E3 ubiquitin protein ligase 4|The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008]
|
|
bromelain
|
|
|
gae
|
|
|
localized
|
|
|
ivsi116
|
|
|
caner
|
|
|
kawasakis
|
|
|
allotypic
|
|
|
opener
|
|
|
alphareceptor
|
|
|
telmisartan
|
|
|
osteoblastic
|
|
|
hemifusion
|
|
|
dopaminederivatives
|
|
|
enamellike
|
|
|
pigment
|
|
|
hst
|
|
|
pink1parkin
|
|
|
bringing
|
|
|
sumo1conjugated
|
|
|
p21cyclin
|
|
|
histomorphometry
|
|
|
vibrational
|
|
|
cd81claudin1
|
|
|
arg306
|
|
|
multiorgan
|
|
|
plk1mediated
|
|
|
dserine
|
|
|
amplifications
|
|
|
receptorswhich
|
|
|
sns314
|
|
|
magnocellular
|
|
|
immunities
|
|
|
escrtii
|
|
|
suppressible
|
|
|
patinets
|
|
|
mir135b5p
|
|
|
claudin7associated
|
|
|
viiacatalyzed
|
|
|
lactacystin
|
L-Cysteine substituted at nitrogen by an acetyl group and at sulfur by a substituted-lactam carbonyl group.
|
|
erythroid2related
|
|
|
nonra
|
|
|
transcoronary
|
|
|
cyp19tttan
|
|
|
val10
|
|
|
lossoffunction
|
|
|
egln3
|
egl-9 family hypoxia-inducible factor 3|
|
|
egln2
|
egl-9 family hypoxia-inducible factor 2|The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]
|
|
egln1
|
egl-9 family hypoxia-inducible factor 1|The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]
|
|
artemisdnapkcs
|
|
|
jag1expressing
|
|
|
uch37
|
|
|
sv40transformed
|
|
|
designing
|
|
|
cpsf30
|
|
|
quantitations
|
|
|
cinacalcet
|
|
|
fruitvegetable
|
|
|
flsin
|
|
|
epigenome
|
|
|
proarrest
|
|
|
pras40
|
|
|
homozygotes
|
|
|
rcd100
|
|
|
engulfment
|
|
|
tmepai
|
|
|
coexpressed
|
|
|
controversy
|
|
|
circumferences
|
|
|
kidd
|
|
|
protein1p70s6
|
|
|
pagetic
|
|
|
coexpresses
|
|
|
spotty
|
|
|
eprostanoid
|
|
|
mcl1128350
|
|
|
lyssavirus
|
|
|
topography
|
|
|
asthmalike
|
|
|
noncdk8associated
|
|
|
prevly
|
|
|
gliogenic
|
|
|
api1
|
|
|
cmpsialic
|
|
|
erythroblast
|
Any of the nucleated cells normally found only in bone marrow that develop into erythrocytes.
|
|
insertiondeletion
|
|
|
hfob
|
|
|
dna
|
|
|
stabolized
|
|
|
insecurity
|
|
|
g1370
|
|
|
pp2calpha
|
|
|
dnk
|
|
|
dekdependent
|
|
|
tfindependent
|
|
|
mir305p
|
|
|
dns
|
|
|
distortions
|
|
|
bcl10
|
B-cell CLL/lymphoma 10|This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. [provided by RefSeq, Jul 2008]
|
|
avms
|
|
|
broccoliderived
|
|
|
dualv
|
|
|
populations
|
|
|
synovioctes
|
|
|
chidlhood
|
|
|
complexcpc
|
|
|
pzlf
|
|
|
ps341
|
|
|
intake
|
|
|
antiplasmin
|
|
|
homoallelic
|
|
|
keloids
|
Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair.
|
|
tlr4myd88
|
|
|
intraosseous
|
|
|
gp240
|
|
|
isologues
|
|
|
ctks
|
|
|
pdyn
|
prodynorphin|The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
|
|
rab4rab5
|
|
|
r235w
|
|
|
pser473
|
|
|
titanium
|
|
|
dysimmune
|
|
|
k13induced
|
|
|
il6tnfalpha
|
|
|
nonglioma
|
|
|
syncytiotrophoblastlike
|
|
|
lipophosphoglycan
|
A glycoconjugate expressed by Leishmania promastigotes, the stage of the parasite characteristic for the sandfly vector. Lipophosphoglycan consists of lysoalkyl-sn-glycerophosphoinositol linked to a phosphosaccharide core conserved in all species, which is connected to PO4-6Galbeta1,4Manalpha1 repeats with species-specific substitutions at the Gal residue; the repeats are capped by conserved and species-specific oligosaccharides.
|
|
travel
|
|
|
copious
|
|
|
plvdac
|
|
|
alpha1a247rexpressing
|
|
|
goiters
|
|
|
chaffeensis
|
|
|
e6e6
|
|
|
e6e7
|
|
|
selfesteem
|
|
|
antimir16
|
|
|
hcgalpha
|
|
|
sepsisinduced
|
|
|
cdkdependent
|
|
|
eif4a4g4h
|
|
|
preybinding
|
|
|
modest
|
|
|
sedl
|
|
|
p122131
|
|
|
atmp53p21
|
|
|
crural
|
|
|
morphologydependent
|
|
|
t2dn
|
|
|
twohybrid
|
|
|
phosphoserines
|
|
|
t2dm
|
|
|
lipoperoxidation
|
|
|
hnrnpc1c2
|
|
|
recombination
|
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
|
|
ltalphagg
|
|
|
aktfoxo3abim
|
|
|
y504f
|
|
|
anemiabrca
|
|
|
p120kaiso
|
|
|
coiledcoilmediated
|
|
|
anaphylaxis
|
|
|
gardos
|
|
|
a3ip
|
|
|
hypodiploid
|
|
|
nbkbik
|
|
|
doublepositive
|
|
|
concurrence
|
|
|
stat3rantes
|
|
|
rs6046a
|
|
|
ebsmigr
|
|
|
wherein
|
|
|
activating
|
|
|
cnr1or
|
|
|
fir
|
|
|
fis
|
|
|
zif268
|
|
|
fiv
|
|
|
fit
|
|
|
nherf1ebp50
|
|
|
fix
|
|
|
folate
|
|
|
fib
|
|
|
mboat7
|
membrane bound O-acyltransferase domain containing 7|This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
|
|
fig
|
|
|
mboat5
|
|
|
uok
|
|
|
oat1b1
|
|
|
fih
|
|
|
fii
|
|
|
folh1
|
folate hydrolase (prostate-specific membrane antigen) 1|This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010]
|
|
zucker
|
|
|
cblvav
|
|
|
coadministered
|
|
|
cxcr21208ct
|
|
|
senp2loop1
|
|
|
heregulinbeta1
|
|
|
hypoxic
|
|
|
hypoxia
|
reduced oxygenation of body tissues resulting in the decreased pressure of this component of body gases; commonly due to hypoxemia
|
|
effects
|
|
|
dsite
|
|
|
smithmagenis
|
|
|
pfcebpd
|
|
|
rs1042838
|
|
|
musculotendinous
|
|
|
betaact
|
|
|
uninfluenced
|
|
|
multifetal
|
|
|
cmetoverexpressing
|
|
|
g1947a
|
|
|
panbcrabl1
|
|
|
parasites
|
|
|
ln5alpha6beta4
|
|
|
slerelated
|
|
|
barentsz
|
|
|
hemiparkinsonian
|
|
|
hspb8bag3
|
|
|
cellenriched
|
|
|
dj1binding
|
|
|
combinatorial
|
|
|
chemoprevention
|
|
|
adapt
|
|
|
endjoining
|
|
|
condensationdecondensation
|
|
|
factoristimulated
|
|
|
sumospecific
|
|
|
flj23420
|
|
|
lymphoblasts
|
|
|
trailinducedapoptosis
|
|
|
antigenome
|
|
|
synaptosomalassociated
|
|
|
recombinanat
|
|
|
corelated
|
|
|
biochemiacl
|
|
|
ser202thr205
|
|
|
stereotypical
|
|
|
khras
|
|
|
corelates
|
|
|
estimate
|
|
|
obliterans
|
|
|
pt383fsx
|
|
|
chiari
|
|
|
polysiaexpressing
|
|
|
nucleoli
|
|
|
scd95l
|
|
|
ganciclovir
|
An oxopurine that is guanine substituted by a [(1,3-dihydroxypropan-2-yl)oxy]methyl group at position 9. Ganciclovir is an antiviral drug used to treat or prevent AIDS-related cytomegalovirus infections.
|
|
adap1
|
ArfGAP with dual PH domains 1|
|
|
disturbed
|
|
|
hsalet7g
|
|
|
pcnamediated
|
|
|
heterozygosis
|
|
|
bcl10dependent
|
|
|
ca2induced
|
|
|
cck2rmediated
|
|
|
reciprocally
|
|
|
jimt1
|
|
|
vdac3
|
voltage-dependent anion channel 3|This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
|
|
complementdependent
|
|
|
foxl2
|
forkhead box L2|This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jun 2009]
|
|
colec11
|
|
|
alkbh2catalyzed
|
|
|
vdac1
|
voltage-dependent anion channel 1|This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitochondrial functions. This protein also forms channels in the plasma membrane and may be involved in transmembrane electron transport. Alternate splicing results in multiple transcript variants. Multiple pseudogenes of this gene are found on chromosomes 1, 2 3, 6, 9, 12, X and Y.[provided by RefSeq, Sep 2010]
|
|
maffnfe2
|
|
|
receptorbetaarrestin
|
|
|
min1
|
|
|
needed
|
|
|
master
|
|
|
cd44egfr
|
|
|
actinrelated
|
|
|
n676
|
|
|
genesis
|
|
|
du145
|
|
|
telomeraseinduced
|
|
|
pypaf5
|
|
|
dimerforming
|
|
|
factorbfgf
|
|
|
pypaf1
|
|
|
pypaf2
|
|
|
phdhif
|
|
|
gcbdlbcl
|
|
|
yield
|
|
|
serumshocked
|
|
|
ifngammadependent
|
|
|
integrally
|
|
|
amyloidogenic
|
|
|
polkappa
|
|
|
e1bcd5expressing
|
|
|
cmad2
|
|
|
microglias
|
|
|
autoepitope
|
|
|
polypoidal
|
|
|
arthritisfibroblastlike
|
|
|
jnkbiddependent
|
|
|
dependencepsychosis
|
|
|
microglial
|
|
|
polrmt
|
polymerase (RNA) mitochondrial (DNA directed)|This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]
|
|
feeling
|
|
|
ormdl2
|
ORMDL sphingolipid biosynthesis regulator 2|
|
|
fuca1
|
fucosidase, alpha-L- 1, tissue|The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
|
|
fuca2
|
fucosidase, alpha-L- 2, plasma|This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]
|
|
caspase3mediated
|
|
|
ampa
|
|
|
proplatelet
|
|
|
pi3kptenakt
|
|
|
flipp43
|
|
|
bcl11a
|
B-cell CLL/lymphoma 11A (zinc finger protein)|This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
eb1interacting
|
|
|
bcl11b
|
B-cell CLL/lymphoma 11B (zinc finger protein)|This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
|
|
pecs
|
|
|
artd8
|
|
|
mdamb361
|
|
|
inflammationinduced
|
|
|
jip4
|
|
|
periodontitis
|
Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)
|
|
hoogsteen
|
|
|
epsilon43
|
|
|
rhcg
|
|
|
rhce
|
|
|
relaxations
|
|
|
c118t
|
|
|
networkdependent
|
|
|
pnuts
|
|
|
nutrientlimited
|
|
|
diminishing
|
|
|
p300histone
|
|
|
simplify
|
|
|
ctlmediated
|
|
|
cycloheximide
|
A piperidine antibiotic that has formula C15H23NO4.
|
|
collagenolytic
|
|
|
pr776q
|
|
|
toin
|
|
|
ascmediated
|
|
|
oncostatin
|
|
|
haplotypespecific
|
|
|
tecs
|
|
|
colibetacatenin
|
|
|
tecm
|
|
|
phytosterols
|
|
|
teck
|
|
|
degradationindependent
|
|
|
promiscuously
|
|
|
venouslymphatic
|
|
|
hsmg1
|
|
|
na2so4
|
|
|
cxcl8il8induced
|
|
|
viabilityproliferation
|
|
|
ptppest
|
|
|
mre11nbs1
|
|
|
rpespecific
|
|
|
hey1b
|
|
|
dickkopfrelated
|
|
|
kinase
|
|
|
cterminalbinding
|
Interacting selectively and non-covalently with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
|
|
alphaacc1
|
|
|
cbp8020
|
|
|
kcc3
|
|
|
kcc2
|
|
|
kcc1
|
|
|
srebps
|
|
|
antiil8
|
|
|
kcc4
|
|
|
plate
|
|
|
panautonomic
|
|
|
humanspecific
|
|
|
fishpositive
|
|
|
benazepril
|
A benzazepine that has formula C24H28N2O5.
|
|
hba2north
|
|
|
obesitytype
|
|
|
altogether
|
|
|
genotypepositive
|
|
|
iatp
|
|
|
staphylococcal
|
|
|
superfamily
|
|
|
kapbeta2
|
|
|
kapbeta3
|
|
|
hpa3b
|
|
|
brca1rap80
|
|
|
pabpbinding
|
|
|
p2ry8
|
purinergic receptor P2Y, G-protein coupled, 8|The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. [provided by RefSeq, Jul 2008]
|
|
mus81dependent
|
|
|
p2ry2
|
purinergic receptor P2Y, G-protein coupled, 2|The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, found on many cell types, is activated by ATP and UTP and is reported to be overexpressed on some cancer cell types. It is involved in many cellular functions, such as proliferation, apoptosis and inflammation. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Mar 2013]
|
|
srebp1
|
|
|
srebp2
|
|
|
p2ry1
|
purinergic receptor P2Y, G-protein coupled, 1|The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]
|
|
p2ry5
|
|
|
precluding
|
|
|
megakaaryocyte
|
|
|
vps34
|
|
|
domaininteracting
|
|
|
triap1
|
TP53 regulated inhibitor of apoptosis 1|
|
|
mitochondrialtargeted
|
|
|
sumo12
|
|
|
pepdependent
|
|
|
calsenilin
|
|
|
coopts
|
|
|
tyr165cys
|
|
|
dpsgixxpsxe
|
|
|
antrodia
|
|
|
epithelium
|
A membranous cellular tissue that covers a free surface or lines a tube or cavity of an animal body and serves especially to enclose and protect the other parts of the body, to produce secretions and excretions, and to function in assimilation.
|
|
irs
|
|
|
motional
|
|
|
squamoid
|
|
|
igf1rgbetagammaphosphot94tctex1
|
|
|
conductive
|
|
|
ira
|
|
|
ire
|
|
|
hpadi4
|
|
|
wjmsc
|
|
|
kallikreinkinin
|
|
|
seprase
|
|
|
e4induced
|
|
|
extend
|
|
|
nature
|
|
|
malignances
|
|
|
gitype
|
|
|
diseasescolonizations
|
|
|
extent
|
|
|
tendons
|
|
|
ms4a12
|
|
|
py221
|
|
|
rs2910164
|
|
|
adenocarcinomaprevalent
|
|
|
ir8
|
|
|
hightension
|
|
|
myoclonic
|
|
|
airflow
|
|
|
endometria
|
|
|
nab2ex4stat6ex23
|
|
|
wwtr1camta1
|
|
|
brca1like
|
|
|
sema4dplexinb1mediated
|
|
|
sixtytwo
|
|
|
lymphedemalymphangiectasia
|
|
|
anatomic
|
|
|
pdrg
|
|
|
alpha1aars
|
|
|
libyan
|
|
|
hep2
|
|
|
cog7
|
component of oligomeric golgi complex 7|The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]
|
|
nonorthosteric
|
|
|
spry2dependent
|
|
|
cog5
|
component of oligomeric golgi complex 5|The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]
|
|
leanoverweightobese
|
|
|
rasfs
|
|
|
smc1l1
|
|
|
pipkiibetamediated
|
|
|
frb
|
|
|
frg
|
|
|
fre
|
|
|
tie2r849w
|
|
|
fro
|
|
|
polyphen
|
|
|
muci
|
|
|
frp
|
|
|
nonasthmatic
|
|
|
fry
|
furry homolog (Drosophila)|
|
|
migratoryinvasive
|
|
|
distinctin
|
|
|
spir
|
|
|
obese
|
An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
|
|
tra160
|
|
|
ppet1
|
|
|
eoffect
|
|
|
spib
|
Spi-B transcription factor (Spi-1/PU.1 related)|The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
|
|
spic
|
Spi-C transcription factor (Spi-1/PU.1 related)|
|
|
eda2rar
|
|
|
doubts
|
|
|
apicidin
|
|
|
activityindependent
|
|
|
hepl
|
|
|
tirc7
|
|
|
mirn124
|
|
|
muc8
|
|
|
muc3
|
|
|
muc2
|
mucin 2, oligomeric mucus/gel-forming|This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
|
|
muc1
|
mucin 1, cell surface associated|This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
|
|
muc7
|
mucin 7, secreted|This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]
|
|
muc6
|
mucin 6, oligomeric mucus/gel-forming|The MUC6 gene encodes gastric mucin, a secreted glycoprotein that plays an essential role in epithelial cytoprotection from acid, proteases, pathogenic microorganisms, and mechanical trauma in the gastrointestinal tract (summary by Toribara et al., 1993 [PubMed 7680650]).[supplied by OMIM, Dec 2010]
|
|
naif1
|
nuclear apoptosis inducing factor 1|
|
|
muc4
|
mucin 4, cell surface associated|The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]
|
|
erk2dependent
|
|
|
prostrate
|
|
|
polysaccharide
|
A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues.
|
|
genetransfer
|
|
|
mpnst
|
Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.|An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1).
|
|
mir1719b
|
|
|
virusderived
|
|
|
conditioned
|
|
|
endothelialexpressed
|
|
|
associiated
|
|
|
populationdependent
|
|
|
synaptogyrin
|
|
|
appxps1
|
|
|
hong
|
|
|
rs5355t
|
|
|
cyp19a1
|
cytochrome P450, family 19, subfamily A, polypeptide 1|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
|
|
dnaencoded
|
|
|
fank1
|
fibronectin type III and ankyrin repeat domains 1|
|
|
myocardiai
|
|
|
apoptin
|
|
|
k27me3
|
|
|
d732enr2a
|
|
|
dorminant
|
|
|
ecsm2
|
|
|
coaggregation
|
|
|
bh3like
|
|
|
hmgcs1
|
3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)|
|
|
hmgcs2
|
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)|The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
|
|
ns1abp
|
|
|
baxvdac1
|
|
|
slc7a14
|
solute carrier family 7, member 14|This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]
|
|
denaturing
|
|
|
slc7a11
|
solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11|This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011]
|
|
academic
|
|
|
lonelier
|
|
|
ralgtpases
|
|
|
nonamplified
|
|
|
sept4sept11
|
|
|
nf1deficient
|
|
|
swainsonine
|
An indolizidine alkaloid isolated from the plant Swainsona canescens with three hydroxy substituents at positions 1, 2 and 8.
|
|
il17af
|
|
|
dtat
|
|
|
lassa
|
|
|
lassb
|
|
|
rs4986938
|
|
|
prognosticate
|
|
|
il4responsive
|
|
|
projection
|
|
|
claudication
|
|
|
hal
|
histidine ammonia-lyase|Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
|
|
ham
|
|
|
ddb1ddb22
|
|
|
mtp53
|
|
|
had
|
|
|
advancement
|
|
|
edependent
|
|
|
eea1
|
early endosome antigen 1|
|
|
ftcd
|
formimidoyltransferase cyclodeaminase|The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]
|
|
atpcompetitive
|
|
|
arrdc1
|
arrestin domain containing 1|
|
|
arrdc3
|
arrestin domain containing 3|
|
|
hap
|
|
|
mar
|
|
|
har
|
|
|
hat
|
|
|
hau
|
|
|
gynura
|
|
|
lass1
|
|
|
osteopontincd44
|
|
|
deadhesioncoupled
|
|
|
brg1containing
|
|
|
elders
|
|
|
noxo1
|
NADPH oxidase organizer 1|This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
|
|
stn1
|
|
|
dhhc8
|
|
|
rs5128
|
|
|
indicative
|
|
|
compaction
|
|
|
vipvasoactive
|
|
|
dhhc2
|
|
|
dhhc3
|
|
|
dhhc5
|
|
|
dhhc6
|
|
|
alphaintegrin
|
|
|
b8dr3dq2
|
|
|
gammaglutamylepsilonlysine
|
|
|
nucleasedefective
|
|
|
enamelysin
|
|
|
abovenormal
|
|
|
epitopeactivated
|
|
|
ha8
|
|
|
nondetermined
|
|
|
cpla2alphamediated
|
|
|
dnademethylating
|
|
|
bclxltargeting
|
|
|
adpr1
|
|
|
ha1
|
A heterotetrameric AP-type membrane coat adaptor complex that consists of beta1, gamma, mu1 and sigma1 subunits and links clathrin to the membrane surface of a vesicle; vesicles with AP-1-containing coats are normally found primarily in the trans-Golgi network. In at least humans, the AP-1 complex can be heterogeneric due to the existence of multiple subunit isoforms encoded by different genes (gamma1 and gamma2, mu1A and mu1B, and sigma1A, sigma1B and sigma1C).
|
|
ha2
|
A heterotetrameric AP-type membrane coat adaptor complex that consists of alpha, beta2, mu2 and sigma2 subunits, and links clathrin to the membrane surface of a vesicle; vesicles with AP-2-containing coats are normally found primarily near the plasma membrane, on endocytic vesicles. In at least humans, the AP-2 complex can be heterogeneric due to the existence of multiple subunit isoforms encoded by different alpha genes (alphaA and alphaC).
|
|
ha5
|
|
|
sclerosisms
|
|
|
pcrbased
|
|
|
effusion
|
|
|
assocated
|
|
|
cd117positive
|
|
|
functionalized
|
|
|
czech
|
|
|
fih1dependent
|
|
|
p48
|
|
|
crown
|
A cell projection that forms at the site of macropinocytosis, a form of endocytosis that results in the uptake of relatively large amounts of extracellular fluid. The macropinocytic cup membrane selectively excludes certain proteins, such as H36 or PM4C4 in Dictyostelium, and the underlying cytoskeleton is enriched in F-actin and coronin.
|
|
arylamines
|
|
|
alaninescanning
|
|
|
calmaf10in
|
|
|
fshbeta
|
|
|
aracresistant
|
|
|
orf2p
|
|
|
coamplified
|
|
|
mkp1dependent
|
|
|
ckitpdgfra
|
|
|
glutarylcoa
|
|
|
bcl2rearranged
|
|
|
bottom
|
|
|
inhuman
|
|
|
g236e
|
|
|
nephronectin
|
|
|
mitogenactivated
|
|
|
pseudomembranes
|
|
|
rs1136410
|
|
|
vla4mediated
|
|
|
lowspin
|
|
|
aco1
|
aconitase 1, soluble|The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]
|
|
krabo
|
|
|
aco2
|
aconitase 2, mitochondrial|The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]
|
|
gadd45alpha
|
|
|
ps2tff1
|
|
|
timp4cd63
|
|
|
insipidus
|
|
|
nkg2chicd57
|
|
|
btreated
|
|
|
speechrelated
|
|
|
hif1alphamir21
|
|
|
mirnatargeted
|
|
|
atg16l1binding
|
|
|
lysgluargargala
|
|
|
noncovalently
|
|
|
crm1independent
|
|
|
sst5mediated
|
|
|
smc1smc3
|
|
|
anomalous
|
|
|
esophagusassociated
|
|
|
lficolinp35
|
|
|
pt1540m
|
|
|
pak1dependent
|
|
|
myh3
|
myosin, heavy chain 3, skeletal muscle, embryonic|Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]
|
|
nucleophosminalk
|
|
|
prbe2f1dependent
|
|
|
drebrin
|
|
|
kinaseserinethreonine
|
|
|
factorstimulated
|
|
|
v1532i
|
|
|
myh9
|
myosin, heavy chain 9, non-muscle|This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
|
|
polzeta
|
|
|
reticuloendothelial
|
|
|
promotersuppressor
|
|
|
semaphorins
|
|
|
s81
|
|
|
s83
|
|
|
aurkab
|
|
|
melanomareactive
|
|
|
regulatioin
|
|
|
ddx6me31b
|
|
|
pseudoviruses
|
|
|
ptau181p
|
|
|
nonurothelial
|
|
|
rs4245739
|
|
|
upractivated
|
|
|
cpkcalphanpkcdelta
|
|
|
therefore
|
|
|
lncapr
|
|
|
adiposederived
|
|
|
elongator
|
|
|
dnr
|
|
|
denoting
|
|
|
myhc
|
|
|
lys27h3
|
|
|
tgfbeta1controlled
|
|
|
grouchotransducinlike
|
|
|
cnrasgef
|
|
|
anticd79b
|
|
|
endocytic
|
|
|
p53hdm2p21waf1
|
|
|
rippling
|
|
|
menadioneinduced
|
|
|
mgam
|
maltase-glucoamylase|This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]
|
|
readthrough
|
|
|
wdr68
|
|
|
bazf
|
|
|
leukoblasts
|
|
|
mmpmmp129
|
|
|
tlx1tlx3
|
|
|
passenger
|
|
|
cmannosylation
|
|
|
palm3
|
|
|
congenita
|
|
|
smarcc1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1|The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]
|
|
replicationmediated
|
|
|
bicarbonatecontrolled
|
|
|
glu69negative
|
|
|
ank1e
|
|
|
effusions
|
|
|
biu87
|
|
|
betacatenintcf7l2
|
|
|
whirlin
|
|
|
gastroparesis
|
|
|
cu2mediated
|
|
|
cdkn2ap14arfcdkn2b
|
|
|
oxygenated
|
|
|
vp311325
|
|
|
serous
|
|
|
sytemic
|
|
|
rspo
|
|
|
faap20
|
|
|
copperatpases
|
|
|
faap24
|
|
|
hypobromous
|
|
|
phosphatidylkinase
|
|
|
hepatectom
|
|
|
cholesterolglucose
|
|
|
arg214215
|
|
|
bcellspecific
|
|
|
callithrix
|
|
|
r130q
|
|
|
cyanosis
|
A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.
|
|
cytl1
|
|
|
smegmatis
|
|
|
reabsorption
|
|
|
cd8alphaalpha
|
|
|
lfa1induced
|
|
|
vasculitides
|
|
|
p21cip1waf1
|
|
|
beta1arinduced
|
|
|
ubn2
|
ubinuclein 2|
|
|
amnions
|
|
|
cdcrel1mediated
|
|
|
childs
|
|
|
apotosis
|
|
|
chain
|
|
|
brs3activated
|
|
|
aspartate
|
|
|
egbs
|
|
|
s100a8s100a92tetramers
|
|
|
dimcpphcf3
|
|
|
junfos
|
|
|
pyk2mediated
|
|
|
amplification
|
|
|
machr
|
|
|
p65relaser276
|
|
|
acidphospholipase
|
|
|
itimmediated
|
|
|
pathobiochemistry
|
|
|
cissnare
|
|
|
pouhd
|
|
|
barttersgitelmans
|
|
|
underlining
|
|
|
connecting
|
|
|
aadinduced
|
|
|
crdbp
|
|
|
latscdk2
|
|
|
sgp130
|
|
|
antioestrogen
|
|
|
ampresponsive
|
|
|
gpam
|
glycerol-3-phosphate acyltransferase, mitochondrial|This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
|
|
gcsfmediated
|
|
|
gle1ip6
|
|
|
cyclophilintype
|
|
|
exact
|
|
|
minute
|
|
|
nalmefene
|
|
|
ecadherinpositive
|
|
|
hand2
|
heart and neural crest derivatives expressed 2|The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]
|
|
skewed
|
|
|
phosphodestruction
|
|
|
vcam1vla4
|
|
|
ccl22ccr4
|
|
|
versatility
|
|
|
ridalpha
|
|
|
hindered
|
|
|
ceramide
|
|
|
heatstable
|
|
|
b1integrin
|
|
|
epilepsia
|
|
|
clptm1l
|
CLPTM1-like|
|
|
e23k
|
|
|
mtdnaencoded
|
|
|
pdgfbbpdgfr
|
|
|
nos1ap
|
nitric oxide synthase 1 (neuronal) adaptor protein|This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]
|
|
hbvr
|
|
|
redoxdependent
|
|
|
zrs
|
|
|
hksr2
|
|
|
olineu
|
|
|
diseaseand
|
|
|
bovis
|
|
|
huvec12
|
|
|
pi3caakt
|
|
|
blunted
|
|
|
emx2
|
empty spiracles homeobox 2|This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]
|
|
presenescent
|
|
|
hrrp4p
|
|
|
bowmans
|
|
|
address
|
|
|
znf224
|
zinc finger protein 224|
|
|
naca2
|
nascent polypeptide-associated complex alpha subunit 2|
|
|
fibrillization
|
|
|
impacted
|
|
|
hif2alphaindependent
|
|
|
pathyway
|
|
|
sdhdmutation
|
|
|
ww45
|
|
|
atrioventricular
|
|
|
adfakcdinduced
|
|
|
influx
|
|
|
dtype
|
|
|
p14arfmdm2p53
|
|
|
deltact
|
|
|
premolar
|
|
|
androgenstimulated
|
|
|
fviiicvwfag
|
|
|
brcc36containing
|
|
|
il2alpha
|
|
|
opposes
|
|
|
toxoplasmosis
|
A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.
|
|
proteindefective
|
|
|
haematogenous
|
|
|
opticospinal
|
|
|
clopiogrel
|
|
|
opposed
|
|
|
osucg12
|
|
|
ppp1r42
|
protein phosphatase 1, regulatory subunit 42|
|
|
constrains
|
|
|
dampness
|
|
|
trc40independent
|
|
|
nocodazoleinduced
|
|
|
taxanesbased
|
|
|
intravesical
|
|
|
microcysts
|
|
|
fibrinous
|
|
|
pq548x
|
|
|
p53mir34
|
|
|
immunoreceptors
|
|
|
glu12glu9
|
|
|
following
|
|
|
actinnucleating
|
|
|
myct1tv
|
|
|
kcnj11
|
potassium channel, inwardly rectifying subfamily J, member 11|Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
|
|
kcnj10
|
potassium channel, inwardly rectifying subfamily J, member 10|This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
|
|
nonimmunogenic
|
|
|
kcnj16
|
potassium channel, inwardly rectifying subfamily J, member 16|Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
|
|
argininelysinerich
|
|
|
angiotensinii
|
|
|
acrebpgc1alpha
|
|
|
cd5negative
|
|
|
marrowmesenchymal
|
|
|
ceacam16
|
|
|
mc2rmrap2
|
|
|
litre
|
|
|
adam10dependent
|
|
|
gly775ile776
|
|
|
antiopn1lw
|
|
|
lglutamine
|
|
|
a172
|
|
|
osteolytic
|
|
|
extensions
|
|
|
emlalk
|
|
|
nkg2dhistocompatibility
|
|
|
endomucin
|
|
|
kiaa1549
|
KIAA1549|The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
|
|
w515lk
|
|
|
epidemiologic
|
|
|
transactivating
|
|
|
rs11209026
|
|
|
kiaa1542
|
|
|
convincingly
|
|
|
cgmppkgroscalmodulincamkii
|
|
|
gammapkc
|
|
|
stapes
|
|
|
harmol
|
|
|
rs1801516
|
|
|
rs17366568
|
|
|
proil18
|
|
|
mapkcyclin
|
|
|
proil16
|
|
|
inhabiting
|
|
|
genemutations
|
|
|
p74r
|
|
|
cul5
|
cullin 5|
|
|
cd14highcd16
|
|
|
catabolize
|
|
|
cd2bp2
|
CD2 (cytoplasmic tail) binding protein 2|This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008]
|
|
ghrelins
|
|
|
cartilages
|
|
|
fluorouracilevoked
|
|
|
pkccpi17
|
|
|
redoxosome
|
|
|
tacetnfalphanfkappab
|
|
|
structuring
|
|
|
cytopathy
|
|
|
tula
|
|
|
disconnect
|
|
|
or099
|
|
|
jia
|
|
|
or097
|
|
|
hyaluronancd44
|
|
|
betacatenintcf4dependent
|
|
|
dithiothreitolinduced
|
|
|
loeysdietz
|
|
|
tnfr1dependent
|
|
|
modestly
|
|
|
nucleophilic
|
|
|
anthracyclinecontaining
|
|
|
ezetimibe
|
A beta-lactam that is azetidin-2-one which is substituted at 1, 3, and 4 by p-fluorophenyl, 3-(p-fluorophenyl)-3-hydroxypropyl, and 4-hydroxyphenyl groups, respectively (the 3R,3'S,4S enantiomer).
|
|
egfrikkalphabetanfkappab
|
|
|
mir12255p
|
|
|
tarsal
|
|
|
sorted
|
|
|
melanomaneutrophil
|
|
|
tp53cox2
|
|
|
monoadenylation
|
|
|
pthrppth1r
|
|
|
hna5a
|
|
|
hna5b
|
|
|
dids
|
|
|
instability
|
|
|
personalizing
|
|
|
quarter
|
|
|
quartet
|
|
|
clc5containing
|
|
|
amer2eb1apc
|
|
|
laminsdependent
|
|
|
growths
|
|
|
ruxolitinib
|
|
|
hepcidinferritin
|
|
|
entering
|
|
|
pde4d5
|
|
|
bcar1p130cas
|
|
|
pde4d6
|
|
|
ldb1dependent
|
|
|
pde4d3
|
|
|
pde4d2
|
|
|
granulosacell
|
|
|
pp4r4
|
|
|
g6pase
|
|
|
atl1
|
atlastin GTPase 1|The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
cyto
|
|
|
ifit3
|
interferon-induced protein with tetratricopeptide repeats 3|
|
|
cytb
|
|
|
cytc
|
|
|
pp4r2
|
|
|
seriously
|
|
|
rac12
|
|
|
gacrp
|
|
|
atrich
|
|
|
ndhpfh
|
|
|
oct4mediated
|
|
|
apocrine
|
|
|
turbinate
|
|
|
inwardly
|
|
|
cyp2b629
|
|
|
kca11
|
|
|
catelmanzke
|
|
|
copeptin
|
|
|
betaadaptins
|
|
|
nisch
|
nischarin|This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013]
|
|
wrong
|
|
|
apapinduced
|
|
|
cellindependent
|
|
|
nonsigma
|
|
|
periphaerl
|
|
|
husband
|
|
|
cyt1
|
|
|
cyt2
|
|
|
promoter590
|
|
|
rsk4
|
|
|
romo1
|
|
|
hepatocytegrowthfactorregulated
|
|
|
wwp2c
|
|
|
il15il15ralphail2rbetagammac
|
|
|
gsdm
|
|
|
s1318
|
|
|
parkinson
|
|
|
organismal
|
|
|
acsl4
|
acyl-CoA synthetase long-chain family member 4|The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
|
|
neucleotide
|
|
|
attgtg
|
|
|
mir30b5p
|
|
|
affords
|
|
|
huntingtinassociated
|
|
|
eos
|
|
|
haplotyping
|
|
|
tlr3activated
|
|
|
plasticbased
|
|
|
usp19
|
ubiquitin specific peptidase 19|
|
|
alpha26linked
|
|
|
hladr1
|
|
|
apoptotic
|
|
|
evolutional
|
|
|
dihydroxy
|
|
|
allalphahelical
|
|
|
cerebri
|
|
|
antibodymediated
|
|
|
hrap1
|
|
|
apoptotis
|
|
|
alphavbeta3cd47
|
|
|
bhc80
|
|
|
fgd5
|
FYVE, RhoGEF and PH domain containing 5|
|
|
l41
|
|
|
fgd1
|
FYVE, RhoGEF and PH domain containing 1|This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of faciogenital dysplasia and X-linked mental retardation, syndromatic 16.[provided by RefSeq, Mar 2011]
|
|
ul144mediated
|
|
|
jmjd
|
|
|
ugt2b17dependent
|
|
|
crossroads
|
|
|
cipkip
|
|
|
pentamers
|
|
|
rhoagtp
|
|
|
aurorac
|
|
|
aurorab
|
|
|
auroraa
|
|
|
parathyroidindependent
|
|
|
cd40lg
|
CD40 ligand|The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]
|
|
kctd6
|
potassium channel tetramerization domain containing 6|
|
|
kctd8
|
potassium channel tetramerization domain containing 8|
|
|
turned
|
|
|
dysrhythmia
|
|
|
auroras
|
|
|
preproendothelin1
|
|
|
posthsct
|
|
|
nonfailing
|
|
|
mek1erk12
|
|
|
ctla4318ct
|
|
|
boyd
|
|
|
c2beta
|
|
|
dr5a
|
|
|
hemodialyzed
|
|
|
dr5b
|
|
|
dilutions
|
|
|
errelated
|
|
|
autophagydeficient
|
|
|
observationally
|
|
|
iex1
|
|
|
teratozoospermia
|
presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends
|
|
bmecs
|
|
|
foxg1
|
forkhead box G1|This locus encodes a member of the forked-head transcription factor family. The encoded protein, which functions as a repressor, may play a role in brain development. Mutations at this locus have been associated with Rett syndrome. [provided by RefSeq, Feb 2012]
|
|
potentialdependent
|
|
|
bs69mediated
|
|
|
cnot6l
|
CCR4-NOT transcription complex, subunit 6-like|
|
|
opposite
|
|
|
pegfpc1tfpi2
|
|
|
discerning
|
|
|
benspm
|
|
|
immigration
|
|
|
yst
|
|
|
deathtransplant
|
|
|
cbfa2t3glis2
|
|
|
prelysosomal
|
|
|
t1486c
|
|
|
eme1
|
essential meiotic structure-specific endonuclease 1|This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
|
|
parkinsonismdystonia
|
|
|
lat1dmt1mtf1mt1a
|
|
|
vasectomized
|
|
|
tripletracer
|
|
|
alphakap
|
|
|
zo1
|
|
|
appswepresenilin1deltae9deleted
|
|
|
staufen2
|
|
|
staufen1
|
|
|
stat3deficient
|
|
|
disengaging
|
|
|
gammasite
|
|
|
ambp
|
alpha-1-microglobulin/bikunin precursor|This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008]
|
|
rnatargeting
|
|
|
friction
|
|
|
justifies
|
|
|
dgmp
|
|
|
b7dependent
|
|
|
lplunc1
|
|
|
nmhciia
|
|
|
adipogenesis
|
The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat.
|
|
sar1dependent
|
|
|
transinhibition
|
|
|
synoviocyte
|
Located in the synovial membrane, there are two types. Type A cells are more numerous, have phagocytic characteristics and produce degradative enzymes. Type B cells produce synovial fluid, which lubricates the joint and nurtures nourishes the articular cartilage.
|
|
pim2
|
Pim-2 proto-oncogene, serine/threonine kinase|This gene encodes a protooncogene that acts as a serine/threonine protein kinase. Studies determined the encoded protein functions to prevent apoptosis and to promote cell survival.[provided by RefSeq, Nov 2009]
|
|
ensembles
|
|
|
reconciling
|
|
|
pim1
|
Pim-1 proto-oncogene, serine/threonine kinase|The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]
|
|
nmhciib
|
|
|
slowinactivation
|
|
|
preprotein
|
|
|
photoprotected
|
|
|
deoxycholic
|
|
|
mhf1
|
|
|
mhf2
|
|
|
branchiootorenal
|
|
|
epistastic
|
|
|
isre
|
|
|
populationand
|
|
|
urm1
|
ubiquitin related modifier 1|
|
|
triad1mediated
|
|
|
decidual
|
|
|
rs13275170
|
|
|
perirenal
|
|
|
hcmec
|
|
|
deciduas
|
|
|
protumor
|
|
|
recombinant
|
|
|
pimt
|
|
|
sstr2sstr5induced
|
|
|
asn110
|
|
|
neutrophilia
|
|
|
neutrophilic
|
|
|
recurred
|
|
|
tiki
|
|
|
pima
|
|
|
ucbmscs
|
|
|
attenuated
|
|
|
vti1atcf7l2
|
|
|
annexin1
|
|
|
annexin3
|
|
|
annexin2
|
|
|
th2tnfalpha
|
|
|
nucleaseinduced
|
|
|
tcner
|
The nucleotide-excision repair process that carries out preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the global genome nucleotide excision repair pathway.
|
|
s541
|
|
|
osterix
|
|
|
ipo13
|
importin 13|This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009]
|
|
extrasynaptic
|
|
|
naked2
|
|
|
rpaindependent
|
|
|
vaccines
|
|
|
nrsf
|
|
|
amenorrheic
|
|
|
micall1ehd1based
|
|
|
satiety
|
|
|
tocopherol
|
|
|
t9t11cla
|
|
|
endonucleolytic
|
|
|
spermmotility
|
Any process involved in the controlled movement of a sperm cell.
|
|
purinerich
|
|
|
annexins
|
|
|
annexinv
|
|
|
tumortransforming
|
|
|
ptenp53
|
|
|
cxc195
|
|
|
deeficient
|
|
|
c53lzap
|
|
|
klf2transduced
|
|
|
rh2s
|
|
|
met235thragt
|
|
|
bloodnerve
|
|
|
rettlike
|
|
|
mmp9mir494sdc1
|
|
|
angiotensinconverting
|
|
|
psgammasecretasemediated
|
|
|
roc1cullin4addb1
|
|
|
allowance
|
|
|
chinesehan
|
|
|
sema5a
|
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A|This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]
|
|
calrasxl1
|
|
|
polymyositisdermatomyositis
|
A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.|A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)
|
|
desogestrel
|
|
|
il433
|
|
|
vegfang
|
|
|
pdcd21
|
|
|
abcg58
|
|
|
betacateninactivated
|
|
|
rs1799732
|
|
|
rs55894764
|
|
|
cholestatic
|
|
|
orfs
|
|
|
suppressant
|
|
|
elox3
|
|
|
west
|
|
|
exocyclic
|
|
|
crb1
|
crumbs family member 1, photoreceptor morphogenesis associated|This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]
|
|
incubation
|
|
|
ive4
|
|
|
pi3kaktforkhead
|
|
|
gmpspecific
|
|
|
immunohistochemisty
|
|
|
sumoylationdependent
|
|
|
mir29a3p
|
|
|
dux4c
|
|
|
photon
|
|
|
pdcd2c
|
|
|
readings
|
|
|
a1alphalysophosphatidic
|
|
|
kir3dl2positive
|
|
|
extant
|
|
|
ggtimediated
|
|
|
riok3
|
RIO kinase 3|This gene was identified by the similarity of its product to the Aspergillus nidulans SUDD protein, an extragenic suppressor of the heat-sensitive bimD6 mutation that fails to attach properly to the spindle microtubules at a restrictive temperature. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]
|
|
orf6
|
|
|
orf3
|
|
|
orf2
|
|
|
photoexposed
|
|
|
tryptophanyltrna
|
|
|
demethylase
|
|
|
cytokineassociated
|
|
|
pp1ci2
|
|
|
antioxidation
|
|
|
zdiscs
|
|
|
crb2
|
crumbs family member 2|
|
|
diaphanousrelated
|
|
|
crescentic
|
|
|
androgenestrogen
|
|
|
fucosylation
|
The covalent attachment of a fucosyl group to an acceptor molecule.
|
|
igtcr
|
|
|
demolition
|
|
|
hladqb10301
|
|
|
rs693
|
|
|
verified
|
|
|
fcgammarii
|
|
|
lpsmediated
|
|
|
eselectinpsgl1
|
|
|
rs698
|
|
|
fnderivatives
|
|
|
lys703
|
|
|
emulsions
|
|
|
l997f
|
|
|
vh1related
|
|
|
cep55alix
|
|
|
matrixcontactside
|
|
|
efbxw7
|
|
|
blymphoid
|
|
|
assigns
|
|
|
mlxipl
|
MLX interacting protein-like|This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. [provided by RefSeq, Jul 2008]
|
|
bmp2mediated
|
|
|
fliceinhibitory
|
|
|
rs1349411
|
|
|
unpel
|
|
|
constraining
|
|
|
dsmiv
|
|
|
hydroxylase
|
|
|
syndromeenlarged
|
|
|
etbeta
|
|
|
pi3kpkbmtor
|
|
|
ott3
|
|
|
serinedepleted
|
|
|
gys1
|
glycogen synthase 1 (muscle)|The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
|
|
peculiarities
|
|
|
itln1
|
intelectin 1 (galactofuranose binding)|
|
|
rps6kb1hif1alphaprotein
|
|
|
amygdalar
|
|
|
microspherule
|
|
|
persistently
|
|
|
developmentof
|
|
|
lkb1s
|
|
|
hbeagnegative
|
|
|
being
|
|
|
dqa10301dqb10302
|
|
|
encephalocele
|
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
|
|
obfc1
|
oligonucleotide/oligosaccharide-binding fold containing 1|OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
|
|
transcomplementing
|
|
|
lkb1l
|
|
|
traslocation
|
|
|
generator
|
|
|
tryptase
|
|
|
characterization
|
|
|
rakfrk
|
|
|
pseudoexfoliative
|
|
|
gep100arf6
|
|
|
e4f1fhl2
|
|
|
absense
|
|
|
fluorouracil
|
|
|
inhibins
|
|
|
washdependent
|
|
|
rejoin
|
|
|
fez1nek1
|
|
|
sums
|
|
|
c1910ct
|
|
|
antiprotease
|
|
|
inhibina
|
|
|
preference
|
|
|
inhibinb
|
|
|
onequarter
|
|
|
tudies
|
|
|
cholesteatoma
|
|
|
grinl1a
|
|
|
lxrsrebp1c
|
|
|
promacrophagestimulating
|
|
|
tnfresponsive
|
|
|
melanocortin3
|
|
|
superiority
|
|
|
ablevoked
|
|
|
satietyblood
|
|
|
zpbp2
|
|
|
ronsema
|
|
|
obstruct
|
|
|
satisfactory
|
|
|
anticoagulationrelated
|
|
|
spermatogenic
|
|
|
stagedependent
|
|
|
viperin
|
|
|
oncomirlike
|
|
|
wisp39
|
|
|
apo2ltrailbased
|
|
|
bdnftrkberk12
|
|
|
complementarity
|
|
|
fzd6gprotein
|
|
|
cd14tlr4dependent
|
|
|
stau2mrnps
|
|
|
erralphapgc1alphabased
|
|
|
svegfr1sflt1
|
|
|
aortagonadmesonephros
|
|
|
rap80
|
|
|
camppkaca2
|
|
|
hhmgcs1
|
|
|
hhmgcs2
|
|
|
kir61sur2a
|
|
|
esetsetdb1
|
|
|
kir61sur2b
|
|
|
d3dependent
|
|
|
hnf1alphabeta
|
|
|
thailand
|
|
|
tnftnfr1
|
|
|
polyoxygenated
|
|
|
colicontaining
|
|
|
iresmediated
|
|
|
hoscc
|
|
|
hoscn
|
|
|
mir487b
|
|
|
nadphcytochrome
|
|
|
perimatrix
|
|
|
mir15amir161
|
|
|
histologies
|
|
|
individualize
|
|
|
hypoperfusion
|
|
|
nedd4binding
|
|
|
perturbed
|
|
|
chemicallydamageddna
|
|
|
neomembrane
|
|
|
l1cammir213p
|
|
|
antidote
|
|
|
huhntcp
|
|
|
raptormtorc1
|
|
|
activinalk4
|
|
|
palmitoleate
|
|
|
nonolf
|
|
|
pivot
|
|
|
mir199a3p
|
|
|
depicting
|
|
|
livels
|
|
|
complexly
|
|
|
wtectodomainldlr
|
|
|
salicylate
|
|
|
activationtermination
|
|
|
progesteronebound
|
|
|
tlr12
|
|
|
rag2
|
recombination activating gene 2|This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008]
|
|
redirection
|
|
|
rag1
|
recombination activating gene 1|The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]
|
|
brazilian
|
|
|
trip6
|
thyroid hormone receptor interactor 6|This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
|
|
bubble
|
|
|
trip3
|
|
|
trip1
|
|
|
allornone
|
|
|
receptortriggered
|
|
|
erbb3containing
|
|
|
alphaketoglutaratedependent
|
|
|
octamer
|
|
|
secreted
|
|
|
patedj
|
|
|
e1amediated
|
|
|
myo1c1433beta
|
|
|
selftolerance
|
|
|
smg9mediated
|
|
|
plga
|
|
|
weyer
|
|
|
pcb77
|
|
|
rage
|
|
|
perimembranous
|
|
|
clec2dependent
|
|
|
rpecells
|
|
|
glea2
|
|
|
prkcb1
|
|
|
prkcb2
|
|
|
methylmercury
|
|
|
reticulated
|
|
|
acrofacial
|
|
|
australasian
|
|
|
oddskipped
|
|
|
psdirect
|
|
|
associating
|
|
|
gonadotrophic
|
|
|
formulation
|
|
|
hemebinding
|
Interacting selectively and non-covalently with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring.
|
|
gonadotrophin
|
|
|
dampens
|
|
|
txniptrx1
|
|
|
typings
|
|
|
bullosaassociated
|
|
|
sympathetically
|
|
|
unparalleled
|
|
|
reportletter
|
|
|
stemm
|
|
|
adpten
|
|
|
alpha1pi
|
|
|
mir2909
|
|
|
citrullination
|
|
|
reinhardtii
|
|
|
pimmediated
|
|
|
pathyways
|
|
|
mirna138
|
|
|
gyrus
|
|
|
wounds
|
|
|
polyinosinicpolycytidylic
|
|
|
abetabinding
|
|
|
walltethering
|
|
|
ucmd
|
|
|
chemoattractantstimulated
|
|
|
arexpressing
|
|
|
rrso
|
|
|
firstorder
|
|
|
d2d3dopamine
|
|
|
proatherogenetic
|
|
|
cfrd
|
|
|
gfat1
|
|
|
trailsensitive
|
|
|
pdzcontaining
|
|
|
caused
|
|
|
endothelin1
|
|
|
macroglobulinemia
|
|
|
cloacalperineal
|
|
|
causes
|
|
|
maturative
|
|
|
u937
|
|
|
leydig
|
|
|
ca2osensitivity
|
|
|
prohepatocyte
|
|
|
encourage
|
|
|
norc
|
|
|
promineralization
|
|
|
genbank
|
|
|
mirnabart
|
|
|
efferocytosis
|
The recognition and removal of an apoptotic cell by a neighboring cell or by a phagocyte.
|
|
norm
|
|
|
wolffparkinsonwhite
|
|
|
endothelinb
|
|
|
endothelina
|
|
|
tnfalphab2m
|
|
|
tgfbeta2stimulated
|
|
|
hladrbeta1
|
|
|
deviates
|
|
|
trbeta
|
|
|
endothelins
|
|
|
hnpff2
|
|
|
substanceindependent
|
|
|
lcs6
|
|
|
highfidelity
|
|
|
sans
|
|
|
lcs1
|
|
|
borrelia
|
|
|
developing
|
|
|
nonlabor
|
|
|
exonic
|
|
|
hgih
|
|
|
sand
|
|
|
alphacrystallins
|
|
|
proamphiregulin
|
|
|
h538qk539l
|
|
|
celsr1
|
cadherin, EGF LAG seven-pass G-type receptor 1|The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]
|
|
abbreviated
|
|
|
dlpfc
|
|
|
genechip
|
|
|
serostatus
|
|
|
tnfalphail8
|
|
|
ccr6positive
|
|
|
fip3
|
|
|
fip2
|
|
|
fip1
|
|
|
ln10
|
|
|
tnfalphail2
|
|
|
tnfalphail1
|
|
|
cocrystal
|
|
|
has2
|
hyaluronan synthase 2|Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008]
|
|
has3
|
hyaluronan synthase 3|The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
|
|
hexhex
|
|
|
hpaaxis
|
|
|
ifnar2f8s
|
|
|
palatal
|
|
|
otof
|
otoferlin|Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
delta6desaturases
|
|
|
prevailed
|
|
|
subunitencoding
|
|
|
erkgsk3beta
|
|
|
ptccontaining
|
|
|
cd39cd73mediated
|
|
|
hebei
|
|
|
nonae
|
|
|
prothrombinactivating
|
|
|
hase
|
|
|
sox2mediated
|
|
|
hasa
|
|
|
portrays
|
|
|
hasc
|
|
|
epsilonrialphamediated
|
|
|
dryaay
|
|
|
layerspecific
|
|
|
oatp1a2high
|
|
|
neuroexcitotoxicity
|
|
|
hass
|
|
|
phe107
|
|
|
specklike
|
|
|
bace1interacting
|
|
|
ssquamous
|
|
|
pi3kpten
|
|
|
arg1668
|
|
|
periodic
|
|
|
smcamscd146
|
|
|
ptenp53mapsin
|
|
|
allografts
|
|
|
adhu5apoptin
|
|
|
cry1cryptochrome
|
|
|
brainplasma
|
|
|
traumatized
|
|
|
onsetrelated
|
|
|
patency
|
|
|
rs5015480
|
|
|
pseudoefhand
|
|
|
pmlnb
|
A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.
|
|
rs2180341
|
|
|
decribe
|
|
|
mors
|
|
|
thralpha1
|
|
|
nucleotideexcision
|
|
|
il10expressing
|
|
|
mastocytosis
|
OMIM mapping confirmed by DO. [LS].
|
|
immobilizing
|
|
|
morf
|
|
|
more
|
|
|
mir3651
|
|
|
initiated
|
|
|
comorbidities
|
|
|
corrected
|
|
|
lsign
|
|
|
initiates
|
|
|
delphilin
|
|
|
pp2acalpha
|
|
|
ceaspecific
|
|
|
plin2
|
perilipin 2|The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
|
|
dapkinase
|
|
|
anticoagulated
|
|
|
t3n02m0
|
|
|
na1na1
|
|
|
snonskil
|
|
|
cabinding
|
|
|
mor1
|
|
|
resorcinol
|
A benzenediol that is benzene dihydroxylated at positions 1 and 3.
|
|
knocked
|
|
|
etrab
|
|
|
carotidinduced
|
|
|
alpha1betaxdelta
|
|
|
cand1cul1roc1
|
|
|
synteny
|
|
|
bpad
|
|
|
bret2
|
|
|
deregulations
|
|
|
chemosensitizing
|
|
|
histogenetic
|
|
|
chlorogenic
|
|
|
tbpgr
|
|
|
iireactive
|
|
|
affecteds
|
|
|
recapitulating
|
|
|
huge
|
|
|
ykl40
|
|
|
antogonizes
|
|
|
heterochromatinization
|
|
|
nearsignificantly
|
|
|
prematuresenescence
|
|
|
dismisses
|
|
|
upregulation
|
|
|
transmigrate
|
|
|
ampars
|
|
|
tissueprotective
|
|
|
variant
|
|
|
gper1could
|
|
|
timfamily
|
|
|
treml2
|
triggering receptor expressed on myeloid cells-like 2|TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]
|
|
cyrtonema
|
|
|
bioinformatics
|
|
|
resemble
|
|
|
pxmediated
|
|
|
twisting
|
|
|
nabpaclitaxel
|
|
|
igfbp2induced
|
|
|
tx17p11q12
|
|
|
ioniing
|
|
|
immunosuppressed
|
|
|
prlprolactin
|
|
|
highlet
|
|
|
oprmu1
|
|
|
c8hydroxylation
|
|
|
paper
|
|
|
tauopathies
|
|
|
dsc3dsg1
|
|
|
lkb1stradmo25
|
|
|
fgf20s
|
|
|
postobese
|
|
|
stricture
|
|
|
neuropsychological
|
|
|
vegffoxo1dependent
|
|
|
missensenonsense
|
|
|
bypass
|
|
|
lymphaticvascular
|
|
|
amitriptyline
|
An organic tricyclic compound that is 10,11-dihydro-5H-dibenzo[a,d][7]annulene substituted by a 3-(dimethylamino)propylidene group at position 5.
|
|
clefts
|
|
|
ampkalpha
|
|
|
intimamedia
|
|
|
hurregulated
|
|
|
th1cell
|
|
|
alports
|
|
|
runxdependent
|
|
|
dfnb2
|
|
|
dfnb1
|
|
|
temperaturedriven
|
|
|
inhibitorbinding
|
|
|
d1like
|
|
|
inflammasome
|
|
|
cox1pgi2ppardelta
|
|
|
courses
|
|
|
dg75
|
|
|
tbpinteracting
|
|
|
hiv2alpha
|
|
|
rhophilin
|
Interacting selectively and non-covalently with Rho protein, any member of the Rho subfamily of the Ras superfamily of monomeric GTPases. Proteins in the Rho subfamily are involved in relaying signals from cell-surface receptors to the actin cytoskeleton.
|
|
caucasiansmetaanalysis
|
|
|
maged1
|
melanoma antigen family D1|This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
maged2
|
melanoma antigen family D2|This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked mental retardation (XLMR). This gene may also be involved in several types of cancer, including breast cancer and melanoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
|
maged3
|
|
|
gilberts
|
|
|
mitostatin
|
|
|
hivvprinduced
|
|
|
oepas
|
|
|
angiogenesisgrowth
|
|
|
tissuecell
|
|
|
alpha26sialylated
|
|
|
gfoger
|
|
|
ulkatg13fip200
|
|
|
coatslike
|
|
|
research
|
|
|
ccl5ccr5
|
|
|
prl3induced
|
|
|
ccl5ccr1
|
|
|
jprotein
|
|
|
phosphoinositide3kinaserelated
|
|
|
interactsactivates
|
|
|
nonsod1
|
|
|
arfdependent
|
|
|
nfkappabzeta
|
|
|
g306e
|
|
|
cd2associated
|
|
|
betahydroxylase
|
|
|
extracellularsignalregulated
|
|
|
airway
|
|
|
substratebinding
|
|
|
phosphoinositidesynthesizing
|
|
|
pr397w
|
|
|
mycntransfected
|
|
|
adrenoreceptors
|
|
|
cfim
|
|
|
aos1
|
|
|
hrheb
|
|
|
wdrepeat
|
|
|
mosapride
|
|
|
fassoluble
|
|
|
crosstalks
|
|
|
transfactors
|
|
|
pressurestimulated
|
|
|
dynlt1
|
dynein, light chain, Tctex-type 1|This gene encodes a component of the motor complex, cytoplasmic dynein, which transports cellular cargo along microtubules in the cell. The encoded protein regulates the length of primary cilia which are sensory organelles found on the surface of cells. The protein encoded by this gene interacts with viral proteins, like the minor capsid protein L2 of human papillomavirus, and is required for dynein-mediated delivery of the viral nucleic acid to the host nucleus. This protein interacts with oncogenic nucleoporins to disrupt gene regulation and cause leukemic transformation. Pseudogenes of this gene are present on chromosomes 4 and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
|
|
dynlt3
|
dynein, light chain, Tctex-type 3|This gene encodes a member of a subclass of dynein light chains. The encoded protein homodimerizes and forms the light chain component of the cytoplasmic dynein motor protein complex. This protein may be important for binding dynein to specific cargos including the spindle checkpoint protein BUB3. This protein may also function independently of dynein as a transcriptional modulator. Pseudogenes of this gene are found on chromosomes 2 and 20.[provided by RefSeq, Mar 2010]
|
|
sunitinib
|
A pyrrole that has formula C22H27FN4O2.
|
|
antihiv
|
|
|
lc3atg3
|
|
|
mutationspolymorphisms
|
|
|
amsh
|
|
|
alpha1bar
|
|
|
pspd
|
|
|
pspc
|
|
|
pspa
|
|
|
excitable
|
|
|
adenovirus
|
|
|
cetlam
|
|
|
eb1089
|
|
|
calculations
|
|
|
proemt
|
|
|
th17th1
|
|
|
hypomorphs
|
|
|
marfanrelated
|
|
|
organohalogen
|
|
|
capsular
|
|
|
corticotroph
|
|
|
lmo2induced
|
|
|
cdkis
|
|
|
cd36tlr4tlr6
|
|
|
oland
|
|
|
plasminmediated
|
|
|
cripto3
|
|
|
cripto1
|
|
|
ab18
|
|
|
th1th2
|
|
|
vegfr2dependent
|
|
|
a46
|
|
|
underpinning
|
|
|
surfaceassociated
|
|
|
nom1
|
nucleolar protein with MIF4G domain 1|Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008]
|
|
emirates
|
|
|
kenaeccdc125
|
|
|
arf1phospholipase
|
|
|
rs1359790
|
|
|
krev
|
|
|
bidindependent
|
|
|
ips1traf3
|
|
|
preradiotherapy
|
|
|
ips1traf6
|
|
|
guarding
|
|
|
pypaf7
|
|
|
blond
|
|
|
conjugate
|
|
|
inegative
|
|
|
antagonizes
|
|
|
fermented
|
|
|
siderosis
|
|
|
miao
|
|
|
myoclonusrenal
|
|
|
fcrnalbumin
|
|
|
kirastransformed
|
|
|
ppard
|
peroxisome proliferator-activated receptor delta|This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. PPARs are nuclear hormone receptors that bind peroxisome proliferators and control the size and number of peroxisomes produced by cells. PPARs mediate a variety of biological processes, and may be involved in the development of several chronic diseases, including diabetes, obesity, atherosclerosis, and cancer. This protein is a potent inhibitor of ligand-induced transcription activity of PPAR alpha and PPAR gamma. It may function as an integrator of transcription repression and nuclear receptor signaling. The expression of this gene is found to be elevated in colorectal cancer cells. The elevated expression can be repressed by adenomatosis polyposis coli (APC), a tumor suppressor protein related to APC/beta-catenin signaling pathway. Knockout studies in mice suggested the role of this protein in myelination of the corpus callosum, lipid metabolism, and epidermal cell proliferation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
|
|
alpha13fuctvii
|
|
|
antagonized
|
|
|
dalcmp
|
|
|
mirna181b
|
|
|
mirna181c
|
|
|
betaform
|
|
|
mirna181a
|
|
|
lrp1ldlrmediated
|
|
|
sglutathiolation
|
|
|
erstress
|
|
|
singlet
|
|
|
phosphoprotein
|
|
|
hdm2mediated
|
|
|
blunting
|
|
|
cd3tcralphabeta
|
|
|
secretedmmp7
|
|
|
nephronophthisisrelated
|
|
|
arter
|
|
|
nonusers
|
|
|
il215treated
|
|
|
lhrhi
|
|
|
proliferated
|
|
|
mia3
|
melanoma inhibitory activity family, member 3|
|
|
myoz2
|
myozenin 2|The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
|
|
lymphoidspecific
|
|
|
myoz1
|
myozenin 1|The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]
|
|
flt3
|
fms-related tyrosine kinase 3|This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]
|
|
flt1
|
fms-related tyrosine kinase 1|This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]
|
|
aagc
|
|
|
aaga
|
|
|
aluyb8mutyh
|
|
|
haematopoietic
|
|
|
mir21in
|
|
|
affin
|
|
|
bips
|
|
|
rab22rab5
|
|
|
evi
|
|
|
hclock
|
|
|
apobec3de
|
|
|
betahsd1
|
|
|
betahsd2
|
|
|
positively
|
|
|
columns
|
|
|
erythrodermic
|
|
|
inducibly
|
|
|
lselectinmediated
|
|
|
rs5744168
|
|
|
apobec3fa3f
|
|
|
nme11465
|
|
|
codonusagechanging
|
|
|
batimastat
|
|
|
onefourth
|
|
|
nonbrca
|
|
|
compass
|
|
|
wdr72
|
|
|
campylobacter
|
|
|
inducible
|
|
|
aag8
|
|
|
factorthe
|
|
|
okt3
|
|
|
deiminated
|
|
|
dhprdeficient
|
|
|
graafian
|
|
|
hoxa
|
|
|
gammariia
|
|
|
kspcadherin
|
|
|
gammariii
|
|
|
combinatorially
|
|
|
tdrd3
|
tudor domain containing 3|
|
|
bundling
|
|
|
tdrd1
|
tudor domain containing 1|This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
|
|
heterotopias
|
|
|
antiproliferative
|
|
|
tm34
|
|
|
collectively
|
|
|
stat3skp2
|
|
|
nucleusencoded
|
|
|
lamininderived
|
|
|
analog
|
|
|
dkms
|
|
|
neurod1e47
|
|
|
deactivate
|
|
|
ablates
|
|
|
apoptogenesis
|
|
|
dipole
|
|
|
ksrpdependent
|
|
|
positronemission
|
|
|
ablated
|
|
|
pi3kakt1
|
|
|
ap2g
|
|
|
oxidize
|
|
|
ap2a
|
|
|
gigpx
|
|
|
condyle
|
|
|
plcg2
|
phospholipase C, gamma 2 (phosphatidylinositol-specific)|The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
|
|
plcg1
|
phospholipase C, gamma 1|The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
znf469
|
|
|
jointly
|
|
|
fpah
|
|
|
nontranscriptional
|
|
|
heteroplasmy
|
|
|
wif1induced
|
|
|
pbrm1mutant
|
|
|
mgarp
|
mitochondria-localized glutamic acid-rich protein|
|
|
cxcl12s1p
|
|
|
sgip1
|
SH3-domain GRB2-like (endophilin) interacting protein 1|SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]
|
|
her2expressing
|
|
|
retarded
|
|
|
strandexchange
|
|
|
cxcr3k300a
|
|
|
coloretal
|
|
|
tfamindependent
|
|
|
rs1800875
|
|
|
synthases
|
|
|
incompatibilities
|
|
|
acetaldehydedna
|
|
|
adaptation
|
|
|
nqo1c609t
|
|
|
nr3
|
|
|
nr2
|
|
|
nr1
|
|
|
belt
|
|
|
agean
|
|
|
antigenstimulated
|
|
|
drip130
|
|
|
initiation
|
|
|
kv32b
|
|
|
mulelasu1
|
|
|
alphaactinins
|
|
|
treatment
|
A process in which the act is intended to modify or alter some other material entity,
|
|
nrk
|
Nik related kinase|The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]
|
|
dcspecific
|
|
|
iddm
|
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.|Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.|An autoimmune disease of endocrine system and is_a diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas.
|
|
myositis
|
An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue.
|
|
counselling
|
|
|
rs4085613
|
|
|
thyrocytes
|
|
|
taxanetreated
|
|
|
nrg
|
|
|
nrf
|
|
|
nre
|
|
|
nrd
|
An rRNA catabolic process that results in the targeted detection and degradation of aberrant rRNAs contained within translationally defective ribosomes, thereby acting as a quality-control system.
|
|
adaptable
|
|
|
awake
|
|
|
pacemaker
|
|
|
nrs
|
|
|
nrr
|
|
|
bel1
|
|
|
hlanegative
|
|
|
haemolytic
|
|
|
stomatocytosis
|
The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
|
|
mplmediated
|
|
|
osas
|
|
|
propertiesreview
|
|
|
pesticideinduced
|
|
|
spiradenomas
|
|
|
rosask1
|
|
|
fiveaminoacid
|
|
|
hyperandrogenic
|
|
|
nucleotides
|
|
|
prefibrils
|
|
|
neurobiologic
|
|
|
vat1
|
vesicle amine transport 1|Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq, Jul 2008]
|
|
mcsfr
|
|
|
agitation
|
|
|
arf6gap
|
|
|
averaging
|
|
|
c31t
|
|
|
rs434102
|
|
|
c31a
|
|
|
genetogene
|
|
|
trn1dependent
|
|
|
nab1
|
NGFI-A binding protein 1 (EGR1 binding protein 1)|
|
|
nab2
|
NGFI-A binding protein 2 (EGR1 binding protein 2)|This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
|
kinetically
|
|
|
fibroblastoma
|
|
|
ladc
|
|
|
erplasma
|
|
|
irect
|
|
|
scfskp2mediated
|
|
|
egf2b
|
|
|
leptintoadiponectin
|
|
|
nabd
|
|
|
absorptive
|
|
|
vmipii
|
|
|
gcderived
|
|
|
c6st1
|
|
|
demethylate
|
|
|
b558
|
|
|
kupffer
|
|
|
male190a
|
|
|
nabs
|
|
|
serologic
|
|
|
agrinstimulated
|
|
|
chanzymes
|
|
|
kng
|
|
|
ltd4
|
|
|
relocalizing
|
|
|
polyclonal
|
|
|
vgf
|
VGF nerve growth factor inducible|This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq, Jul 2008]
|
|
proneuroendocrine
|
|
|
fourfold
|
|
|
opisthorchiasis
|
A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma.
|
|
vhlhifvegf
|
|
|
multivariableadjusted
|
|
|
ufd1
|
|
|
apctruncated
|
|
|
emerging
|
|
|
il1driven
|
|
|
splenectomy
|
|
|
atlastin
|
|
|
interleukin1betamediated
|
|
|
scompartment
|
|
|
mir200s
|
|
|
leiomyomasecreted
|
|
|
mir29ab1
|
|
|
parents
|
|
|
mir200a
|
|
|
f508del
|
|
|
mir200c
|
|
|
mir200b
|
|
|
pseudoparticles
|
|
|
adhesionaggregation
|
|
|
mir200f
|
|
|
cd70cd27
|
|
|
indonesian
|
|
|
gtpch
|
|
|
trypanolysis
|
|
|
gactinmrtfa
|
|
|
hgbalpha
|
|
|
couple
|
|
|
emanating
|
|
|
oneyear
|
|
|
nanjing
|
|
|
saltsensitivity
|
|
|
membraneinitiated
|
|
|
fenretinideinduced
|
|
|
melioidosis
|
A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.
|
|
mir29abc
|
|
|
adipogenesisdependent
|
|
|
p291s
|
|
|
chromosomenegative
|
|
|
ifngammaifngr1
|
|
|
tlr4activated
|
|
|
hsd3b2
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2|The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
|
|
oac1
|
|
|
mutaions
|
|
|
hyperinsulinaemia
|
|
|
fynerk
|
|
|
a2positive
|
|
|
cytokineinduced
|
|
|
mir610mediated
|
|
|
pctaire1
|
|
|
a922g
|
|
|
pathobiological
|
|
|
ciglitazone
|
An aromatic ether that consists of 1,3-thiazolidine-2,4-dione with position 5 substituted by a 4-[(1-methylcyclohexyl)methoxy]benzyl group. A selective PPARgamma agonist.
|
|
novelty
|
|
|
stusty
|
|
|
ovariancancer
|
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
|
|
behave
|
|
|
e181q
|
|
|
dnastimulated
|
|
|
gremlin
|
|
|
flagellininduced
|
|
|
phosphopeptides
|
|
|
sitespecific
|
|
|
pnpt1
|
polyribonucleotide nucleotidyltransferase 1|The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]
|
|
socmediated
|
|
|
nap1wave1
|
|
|
graftversushost
|
|
|
c224t
|
|
|
cooverexpressed
|
|
|
hyperparathyroidismjaw
|
|
|
pamidronate
|
|
|
intergrin
|
|
|
pretransition
|
|
|
mouth
|
The natural opening through which food passes into the body of an animal and which in vertebrates is typically bounded externally by the lips and internally by the pharynx and encloses the tongue, gums, and teeth.
|
|
cxcl12cxcl4
|
|
|
bhlhpas
|
|
|
into
|
|
|
processively
|
|
|
controversies
|
|
|
choriocapillaris
|
|
|
necrosomes
|
|
|
clustering
|
|
|
uncertainties
|
|
|
cul7rbx1
|
|
|
tasting
|
|
|
weightlossresponsive
|
|
|
biol
|
|
|
timesaving
|
|
|
galactosyltransferase
|
|
|
astaxanthin
|
|
|
signalregulated
|
|
|
hxrcc2
|
|
|
fragmented
|
|
|
hcvhivcoinfected
|
|
|
carrageenaninduced
|
|
|
ese3b
|
|
|
tgfbetatgfbeta
|
|
|
int6
|
|
|
atlantic
|
|
|
nontrophoblastic
|
|
|
int3
|
|
|
syx13
|
|
|
intestines
|
|
|
sp1like
|
|
|
acthinduced
|
|
|
microdomainforming
|
|
|
erich
|
|
|
mpb83
|
|
|
habinding
|
|
|
gpcrassociated
|
|
|
natively
|
|
|
mybbp1ap53
|
|
|
lowpolysomy
|
|
|
influence
|
|
|
tap63alpha
|
|
|
hbaainfected
|
|
|
covariation
|
|
|
lymphangioleiomyomatosis
|
|
|
unsaturated
|
|
|
cx40
|
|
|
cx43
|
|
|
betasite
|
|
|
cx45
|
|
|
puzzling
|
|
|
cx47
|
|
|
cx46
|
|
|
uranium
|
|
|
mineralisation
|
|
|
hnpcc
|
|
|
psoriatics
|
|
|
revision
|
|
|
mrtfsrf
|
|
|
monoesters
|
|
|
myofibrils
|
|
|
mtorc2
|
|
|
c1048ga
|
|
|
suppression
|
|
|
plcg1protein
|
|
|
naturallyoccurring
|
|
|
cysgpx
|
|
|
methodologies
|
|
|
algorithm
|
|
|
iid
|
|
|
enhancerdependent
|
|
|
gabrr1
|
gamma-aminobutyric acid (GABA) A receptor, rho 1|GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
|
|
gabrr2
|
gamma-aminobutyric acid (GABA) A receptor, rho 2|GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA receptor complex. [provided by RefSeq, Jul 2008]
|
|
csncer
|
|
|
iif
|
|
|
g801a
|
|
|
tas1r2tas1r3
|
|
|
btpabtp1
|
|
|
dmba
|
|
|
stearoyl
|
|
|
recorded
|
|
|
oleic
|
|
|
feedingfasting
|
|
|
phosphoser727
|
|
|
toggle
|
|
|
receptorsalpha
|
|
|
tumorpromoting
|
|
|
hgcma
|
|
|
turkish
|
|
|
ndpkb
|
|
|
erbetaassociated
|
|
|
expressers
|
|
|
ndpka
|
|
|
ndpkd
|
|
|
prosap1shank2
|
|
|
ndpks
|
|
|
chrna3chrna5
|
|
|
cellbound
|
The external part of the cell wall and/or plasma membrane.
|
|
deficit
|
|
|
m280
|
|
|
mir132p250gap
|
|
|
cyclooxygenase
|
|
|
ser1258
|
|
|
nonspliced
|
|
|
vwfppvwfag
|
|
|
ikappabzeta
|
|
|
dropletbound
|
|
|
arl701h
|
|
|
dinoprostone
|
|
|
quinolinic
|
|
|
ulcer
|
|
|
epicardial
|
|
|
bronchodilation
|
|
|
mzb1
|
marginal zone B and B1 cell-specific protein|
|
|
progenitors
|
|
|
multivessel
|
|
|
dualistic
|
|
|
hc11
|
|
|
dynamics
|
|
|
sec23b
|
Sec23 homolog B (S. cerevisiae)|The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
|
|
imcc225
|
|
|
smn2
|
survival of motor neuron 2, centromeric|This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008]
|
|
alix
|
|
|
smn1
|
survival of motor neuron 1, telomeric|This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
|
|
oncologic
|
|
|
antinociceptive
|
|
|
mir181adependent
|
|
|
bdc25
|
|
|
signaldependent
|
|
|
hdldependent
|
|
|
mir516a5p
|
|
|
hydroegn
|
|
|
flowing
|
|
|
sepsisrelated
|
|
|
tgfalphacontaining
|
|
|
funtion
|
|
|
westerneuropean
|
|
|
cd27igdzap70
|
|
|
adma
|
|
|
igfiakt
|
|
|
p21waf1related
|
|
|
highly
|
|
|
bromine
|
|
|
dyserythropoietic
|
|
|
cebphomologous
|
|
|
ibix
|
|
|
admp
|
|
|
admr
|
|
|
gstt10
|
|
|
noncarriage
|
|
|
smns
|
|
|
tregcelllike
|
|
|
cd30interacting
|
|
|
rhdweak
|
|
|
etrogens
|
|
|
makes
|
|
|
maker
|
|
|
gsk3betaaxin
|
|
|
spg20
|
spastic paraplegia 20 (Troyer syndrome)|This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]
|
|
stat5mediated
|
|
|
poikiloderma
|
Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
|
|
growthsuppressive
|
|
|
rapamycininsensitive
|
|
|
pf1
|
|
|
pf4
|
platelet factor 4|This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. The protein also exhibits antimicrobial activity against Plasmodium falciparum. [provided by RefSeq, Oct 2014]
|
|
c190t
|
|
|
pf8
|
|
|
transitionrelated
|
|
|
confidence
|
|
|
nmm
|
|
|
dietinduced
|
|
|
mengingocele
|
|
|
arcn1
|
archain 1|This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]
|
|
lymphangiogenic
|
|
|
assuring
|
|
|
surrogates
|
|
|
oxon
|
|
|
ca2regulated
|
|
|
synucleinalpha
|
|
|
rick
|
|
|
pfc
|
|
|
rich
|
|
|
ikkrelated
|
|
|
secondsite
|
|
|
pfh
|
|
|
pfk
|
|
|
higd1a
|
HIG1 hypoxia inducible domain family, member 1A|
|
|
pfn
|
|
|
pfs
|
|
|
p2purinergic
|
|
|
unopposed
|
|
|
cytogenetically
|
|
|
interleukin17f
|
|
|
interleukin17a
|
|
|
mertkbinding
|
|
|
integrating
|
|
|
mir520s
|
|
|
il23rrs11805303
|
|
|
antioxidantpigment
|
|
|
rab27aq78l
|
|
|
mir520h
|
|
|
fog2gata4
|
|
|
gchenoshigh
|
|
|
sirpalphacd172a
|
|
|
mir520g
|
|
|
mir520e
|
|
|
hyperproliferating
|
|
|
alslinked
|
|
|
iipeptides
|
|
|
snitrosylation
|
The covalent addition of a nitric oxide (NO) group to the sulphur (S) atom of a cysteine residue in a protein, to form peptidyl-S-nitrosyl-L-cysteine.
|
|
perbb2
|
|
|
rods
|
|
|
taskirrelevant
|
|
|
sensitivityinducing
|
|
|
sfpqdetached
|
|
|
pkgii
|
|
|
vitreoretinopathy
|
|
|
cbfa1runx2
|
|
|
zxdc1
|
|
|
rs2736100tg
|
|
|
ccdc6ret
|
|
|
t620i
|
|
|
rod1
|
|
|
ccr5mediated
|
|
|
notch1hes1signaling
|
|
|
monoxide
|
|
|
mjd
|
|
|
neovasculature
|
|
|
acetatebound
|
|
|
thiocyanate
|
A pseudohalide anion obtained by deprotonation of the thiol group of thiocyanic acid.
|
|
kgm2
|
|
|
cd4independent
|
|
|
vaccination
|
Vaccination is: a process' that involves in adding vaccine into a host (e.g., human, mouse) in vivo with the intend to invoke a protective immune response.
|
|
forskolininduced
|
|
|
inhibitorbio
|
|
|
ns5a
|
|
|
calsequestrin
|
|
|
evolutionary
|
|
|
thigh
|
1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone. 2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured.
|
|
apls
|
|
|
reve
|
|
|
antiaquaporin
|
|
|
bmi1aurka
|
|
|
il28brelated
|
|
|
taudependent
|
|
|
apln
|
apelin|This gene encodes a peptide that functions as an endogenous ligand for the G protein coupled receptor APJ. The encoded protein is synthesized as a prepropeptide that is processed into biologically active C-terminal fragments. The peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1.[provided by RefSeq, Feb 2010]
|
|
apla
|
|
|
aplf
|
aprataxin and PNKP like factor|C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]
|
|
nomediated
|
|
|
raftlike
|
|
|
cellshsf1
|
|
|
adjustment
|
|
|
stalled
|
|
|
derivative
|
|
|
estrogenerresponsive
|
|
|
hifinduced
|
|
|
physicians
|
|
|
hainan
|
|
|
rab11adependent
|
|
|
overal
|
|
|
snake
|
|
|
mir410
|
microRNA 410|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
mleprae
|
|
|
dysmorphism
|
|
|
sin3ahdac
|
|
|
brca2c7988atpglu2663val
|
|
|
heteromer
|
|
|
rectal
|
|
|
concave
|
|
|
ca2atpase
|
|
|
invertebrates
|
|
|
betacateninbcl9like
|
|
|
reproducing
|
|
|
homogeneous
|
|
|
am251
|
|
|
usp46mediated
|
|
|
abusereview
|
|
|
nuclearcytoplasmic
|
|
|
pck1with
|
|
|
myxofibrosarcoma
|
|
|
npc1
|
Niemann-Pick disease, type C1|This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
|
|
patch
|
|
|
nmethylated
|
|
|
dnmt3a2
|
|
|
constrictive
|
|
|
spindlecell
|
|
|
ighccnd1
|
|
|
memorhoamdia1
|
|
|
hhsm21
|
|
|
nucleotidereleasing
|
|
|
r872x
|
|
|
ad4bpsf1binding
|
|
|
ptenakt
|
|
|
actinin
|
|
|
c2gntmvc
|
|
|
actinic
|
|
|
elevatetd
|
|
|
npcs
|
|
|
kccs
|
|
|
betacatenintcell
|
|
|
dideoxycytidine
|
|
|
adomain
|
|
|
immuneactivated
|
|
|
iip11
|
|
|
superovulation
|
|
|
microenvironmentencoded
|
|
|
inst
|
|
|
prolinetyrosine
|
|
|
relays
|
|
|
oglucuronide
|
|
|
rosmarinic
|
|
|
homoharringtonine
|
|
|
suppession
|
|
|
pipkigamma661
|
|
|
t47
|
|
|
crn7
|
|
|
dobutamine
|
A catecholamine that is 4-(3-aminobutyl)phenol in which one of the hydrogens attached to the nitrogen is substituted by a 2-(3,4-dihydroxyphenyl)ethyl group. A beta1-adrenergic receptor agonist that has cardiac stimulant action without evoking vasoconstriction or tachycardia, it is used as the hydrochloride to increase the contractility of the heart in the management of acute heart failure.
|
|
vps35
|
vacuolar protein sorting 35 homolog (S. cerevisiae)|This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]
|
|
periconceptional
|
|
|
ajuba
|
ajuba LIM protein|
|
|
r381w
|
|
|
f13b
|
coagulation factor XIII, B polypeptide|This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]
|
|
bromide
|
A monoatomic bromine that has formula Br.
|
|
lumen
|
|
|
troglitazoneinduced
|
|
|
megakaryocytespecific
|
|
|
aktinducible
|
|
|
hmpvinfected
|
|
|
stomach
|
A dilatation of the alimentary canal of a vertebrate communicating anteriorly with the esophagus and posteriorly with the duodenum.
|
|
liprinbeta2
|
|
|
ccr2dependent
|
|
|
ezh2mir200ce2f3
|
|
|
spfamily
|
|
|
h3t3ph
|
|
|
hsj1a
|
|
|
activeandrostane
|
|
|
hsj1b
|
|
|
crna
|
|
|
k85
|
|
|
k87
|
|
|
mir1260
|
|
|
adhesionassociated
|
|
|
orchestrates
|
|
|
mir1266
|
microRNA 1266|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
fkbp51
|
|
|
uremic
|
|
|
orchestrated
|
|
|
immunecell
|
|
|
fgfrinduced
|
|
|
d816v
|
|
|
false
|
|
|
shsps
|
|
|
tensioned
|
|
|
reagentinduced
|
|
|
blmtop3armi1
|
|
|
p249s
|
|
|
sstudies
|
|
|
nonreducing
|
|
|
structurefunction
|
|
|
atic
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase|This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]
|
|
atii
|
|
|
nup160
|
nucleoporin 160kDa|NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]
|
|
selfregulates
|
|
|
adhesionlocalized
|
|
|
dysbalance
|
|
|
uropathogens
|
|
|
insulinglucosedependent
|
|
|
selfregulated
|
|
|
ampa3
|
|
|
bre1
|
|
|
melanocytespecific
|
|
|
irx
|
|
|
cdkn2ab
|
|
|
tgiflx
|
|
|
alphabetadependent
|
|
|
ralbsec5
|
|
|
il17ail17ra
|
|
|
photoaffinity
|
|
|
regressing
|
|
|
c47103t
|
|
|
brel
|
|
|
brek
|
|
|
hyperthyroidism
|
A thyroid gland disease that involves an over production of thyroid hormone.
|
|
pcan1
|
|
|
breg
|
|
|
nip3
|
|
|
brec
|
|
|
cklfsf2
|
|
|
cklfsf1
|
|
|
drugsusceptible
|
|
|
ampar
|
|
|
retptcrasbraf
|
|
|
myhc2a
|
|
|
kdm1a
|
lysine (K)-specific demethylase 1A|This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
|
|
okl38
|
|
|
highergrade
|
|
|
nonsignaling
|
|
|
dependant
|
|
|
fcho2
|
FCH domain only 2|
|
|
tumourinduced
|
|
|
uncommitted
|
|
|
cyp1b1ltbp2
|
|
|
inductor
|
|
|
pyrococcus
|
|
|
lowflow
|
|
|
ae1
|
|
|
taps
|
|
|
ae2
|
|
|
quickened
|
|
|
antigencoupled
|
|
|
hrasg12v
|
|
|
entities
|
|
|
tape
|
|
|
coupregulated
|
|
|
tapi
|
|
|
tapl
|
|
|
stim1independent
|
|
|
limk2b
|
|
|
multicatalytic
|
|
|
hpadi2
|
|
|
betulinic
|
|
|
hird
|
|
|
prometastasis
|
|
|
matrigel
|
|
|
sinus
|
|
|
imatinibinduced
|
|
|
aep
|
|
|
aes
|
amino-terminal enhancer of split|The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
tap2
|
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)|The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]
|
|
collapsin
|
|
|
circulation
|
|
|
stufy
|
|
|
antisaccade
|
|
|
solenoid
|
|
|
aea
|
|
|
aec
|
|
|
irf
|
|
|
ckap2
|
cytoskeleton associated protein 2|This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]
|
|
ohio
|
|
|
aej
|
|
|
ael
|
|
|
ckap4
|
cytoskeleton-associated protein 4|
|
|
aen
|
apoptosis enhancing nuclease|
|
|
frame
|
|
|
tlr9stimulated
|
|
|
peptideladen
|
|
|
iecs
|
|
|
destiny
|
|
|
endophenotype
|
|
|
mart1
|
|
|
nuclear
|
|
|
gammadcrystallin
|
|
|
hdmallergic
|
|
|
p263e6
|
|
|
membrane
|
Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.
|
|
repetitively
|
|
|
fluconazole
|
A member of the class of triazoles that is propan-2-ol substituted at position 1 and 3 by 1H-1,2,4-triazol-1-yl groups and at position 2 by a 2,4-difluorophenyl group. It has been shown to exhibit antifungal activity.
|
|
blzip
|
|
|
raltegravir
|
|
|
delta47
|
|
|
stat1induced
|
|
|
cul3klhl3
|
|
|
cyclinb1
|
|
|
elementbinding
|
|
|
refuting
|
|
|
decompensation
|
|
|
iec6
|
|
|
ser732
|
|
|
inductiion
|
|
|
cruzi
|
|
|
ampatype
|
|
|
orp1l
|
|
|
rpcs
|
|
|
pkcalpharaf1
|
|
|
indica
|
|
|
apoptosisregulating
|
|
|
marc1
|
mitochondrial amidoxime reducing component 1|
|
|
descents
|
|
|
ultrasonography
|
|
|
hspb1hspb5
|
|
|
rb7
|
|
|
pp1gammaki67
|
|
|
cv2
|
|
|
rb1
|
retinoblastoma 1|The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
|
|
cv1
|
|
|
kir32
|
|
|
kir33
|
|
|
genetic
|
|
|
kir31
|
|
|
rnpc1
|
|
|
kir34
|
|
|
sindbis
|
|
|
atp1a3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide|The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
|
|
polyanions
|
|
|
rpc5
|
|
|
arid5b
|
AT rich interactive domain 5B (MRF1-like)|This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
|
|
abrogating
|
|
|
cargos
|
|
|
coherence
|
|
|
t377m
|
|
|
proliferationregeneration
|
|
|
grk4gamma
|
|
|
immunoendocrine
|
|
|
mrprnase
|
|
|
ghrmediated
|
|
|
map3k8
|
mitogen-activated protein kinase kinase kinase 8|This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
|
|
map3k9
|
mitogen-activated protein kinase kinase kinase 9|
|
|
inflammaging
|
|
|
map3k2
|
mitogen-activated protein kinase kinase kinase 2|The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq, Jul 2008]
|
|
rbv
|
|
|
cvt
|
|
|
map3k1
|
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase|The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
|
|
cvr
|
|
|
cvs
|
|
|
map3k4
|
mitogen-activated protein kinase kinase kinase 4|The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Several alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, May 2014]
|
|
map3k5
|
mitogen-activated protein kinase kinase kinase 5|Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]
|
|
rbm
|
|
|
responsereview
|
|
|
cvf
|
|
|
cvd
|
A body system disease which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.|A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. -- 2003|Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.|A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma.
|
|
cve
|
|
|
rbc
|
The number of red blood cells per unit volume in a sample of venous blood.
|
|
cvc
|
|
|
arf1dependent
|
|
|
mirabilis
|
|
|
beta2integrindependent
|
|
|
propeptide
|
|
|
pachytene
|
The cell cycle phase which follows zygotene during prophase I of meiosis, and during which crossing over occurs between a chromatid in one partner and another chromatid in the homologous chromosome.
|
|
mmp12dependent
|
|
|
cohort
|
A cohort is a collection of material entities grouped together based on some common property of interest, such as age or disease stage.
|
|
carbohydrates
|
|
|
somatomedin
|
|
|
ssclerosis
|
|
|
anticodon
|
|
|
nonagenarians
|
|
|
androgenreceptordependent
|
|
|
ewings
|
|
|
agerageinduced
|
|
|
apol6
|
apolipoprotein L, 6|This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]
|
|
antidiabetic
|
|
|
apol2
|
apolipoprotein L, 2|This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
apol1
|
apolipoprotein L, 1|This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
|
|
pdzrn3
|
PDZ domain containing ring finger 3|This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
|
matuzumab
|
|
|
cytokeratin19
|
|
|
cytokeratin18
|
|
|
saltdependent
|
|
|
diabeted
|
|
|
cytokeratin10
|
|
|
diabetec
|
|
|
ndomains
|
|
|
ifngammail17producing
|
|
|
egfrptendriven
|
|
|
diabetes
|
A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
|
|
tnfsf13
|
tumor necrosis factor (ligand) superfamily, member 13|The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]
|
|
ofc
|
|
|
tnfsf10
|
tumor necrosis factor (ligand) superfamily, member 10|The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
|
|
off
|
|
|
apoli
|
|
|
ccaatbinding
|
|
|
apolf
|
|
|
phap
|
|
|
ofr
|
|
|
variantspecific
|
|
|
p3h1
|
prolyl 3-hydroxylase 1|This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
|
|
diphtheria
|
A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys.
|
|
scd14
|
|
|
nfkappabhif1alpha
|
|
|
git1cortactin
|
|
|
newest
|
|
|
fzd1mediated
|
|
|
fibrocartilage
|
|
|
rs762803
|
|
|
betaglycan
|
|
|
sds22mediated
|
|
|
mir21mediated
|
|
|
par3apkcpar6
|
|
|
spi1
|
Spi-1 proto-oncogene|This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
xylti
|
|
|
pstpip2
|
proline-serine-threonine phosphatase interacting protein 2|
|
|
pstpip1
|
proline-serine-threonine phosphatase interacting protein 1|The protein encoded by this gene binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, negatively affecting CD2-triggered T cell activation. The encoded protein appears to be a scaffold protein and a regulator of the actin cytoskeleton. It has also been shown to bind ABL1, PTPN18, WAS, CD2AP, and PTPN12. Mutations in this gene are a cause of PAPA syndrome. [provided by RefSeq, Jul 2008]
|
|
l55m
|
|
|
ftase
|
|
|
granulocytic
|
|
|
ptrp535leu
|
|
|
hctf8
|
|
|
adenosineuridinerich
|
|
|
altitudedependent
|
|
|
transactivated
|
|
|
cotreatment
|
|
|
crack
|
|
|
w6unsaturated
|
|
|
cracc
|
|
|
hyperbilirubinaemia
|
|
|
nmzl
|
|
|
bcrmediated
|
|
|
damageactivated
|
|
|
nfkbhdac1
|
|
|
nonvalvular
|
|
|
mathematics
|
|
|
atrophy
|
|
|
evpl
|
envoplakin|
|
|
nonobese
|
|
|
atf6beta
|
|
|
debatable
|
|
|
jamlvla4
|
|
|
mucosalassociated
|
|
|
taumediated
|
|
|
americanus
|
|
|
crac1
|
|
|
gcase
|
|
|
synthetized
|
|
|
shortinterfering
|
|
|
cpgoligodeoxynucleotides
|
|
|
cys106
|
|
|
become
|
|
|
naxos
|
|
|
stradalpha
|
|
|
titf1
|
|
|
pmnls
|
|
|
dnabased
|
|
|
unassociated
|
|
|
underwent
|
|
|
pctaire
|
|
|
csnk1d
|
casein kinase 1, delta|This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
|
|
csnk1e
|
casein kinase 1, epsilon|The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]
|
|
gymnastics
|
|
|
vegfendostatin
|
|
|
cotransport1
|
|
|
hiflalpha
|
|
|
amylotrophic
|
|
|
recognition
|
|
|
ringh2
|
|
|
pyrrolidine
|
A cyclic amine whose five-membered ring contains four carbon atoms and one nitrogen atom; the parent compound of the pyrrolidine family.
|
|
lipomas
|
|
|
collodion
|
|
|
antrocin
|
|
|
correlative
|
|
|
tbeta4activated
|
|
|
granulophysin
|
|
|
pirfenidone
|
|
|
vegfainduced
|
|
|
biology
|
|
|
predispositions
|
|
|
satb1induced
|
|
|
pomeranian
|
|
|
grid2
|
glutamate receptor, ionotropic, delta 2|The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]
|
|
plasmalogens
|
|
|
orp10
|
|
|
singlepass
|
|
|
coohterminal
|
|
|
g298a
|
|
|
htra2dependent
|
|
|
northafrican
|
|
|
aitl
|
|
|
rs1076560
|
|
|
monoxode
|
|
|
aitd
|
|
|
sca1low
|
|
|
triazoloacridinone
|
|
|
relanfkappabregulated
|
|
|
morphiceptin
|
|
|
c674t
|
|
|
ccr5tropic
|
|
|
cdk1related
|
|
|
curative
|
|
|
dissections
|
The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures.
|
|
swimming
|
Self-propelled movement of an organism from one location to another through water, often by means of active fin movement.
|
|
fcgammariiia176fv
|
|
|
mmp2conditioned
|
|
|
unfavourable
|
|
|
lsignmediated
|
|
|
g60d
|
|
|
stratification
|
|
|
jianpi
|
|
|
amphetamineinduced
|
|
|
cultivated
|
|
|
mirna216a
|
|
|
pi3kaktmediated
|
|
|
terminated
|
|
|
dr5trailr2
|
|
|
ftularensis
|
|
|
pairing
|
|
|
aldhs
|
|
|
much
|
|
|
drugdetoxifying
|
|
|
terminates
|
|
|
c3orf75elp6
|
|
|
resealed
|
|
|
creb1mitfrab27a
|
|
|
sebumspecific
|
|
|
ryanodine
|
An insecticide alkaloid isolated from South American plant Ryania speciosa.
|
|
lungscc
|
|
|
muca
|
|
|
fragmentation
|
|
|
evident
|
|
|
prometastatic
|
|
|
aldh4
|
|
|
aldh1
|
|
|
aldh2
|
aldehyde dehydrogenase 2 family (mitochondrial)|This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011]
|
|
proneural
|
|
|
excitement
|
|
|
hookworminfected
|
|
|
neurocognitive
|
|
|
problem
|
|
|
hnrnpul1
|
heterogeneous nuclear ribonucleoprotein U-like 1|This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus E1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by E1B-55kDa in adenovirus-infected cells. Two transcript variants encoding different isoforms have been found for this gene. Additional variants have also been found, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]
|
|
rs3812153
|
|
|
noncell
|
|
|
ymphoproliferation
|
|
|
sap30
|
Sin3A-associated protein, 30kDa|Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]
|
|
prb2130
|
|
|
tak442
|
|
|
signifiant
|
|
|
prdxdepleted
|
|
|
gliosarcomas
|
|
|
ampamediated
|
|
|
c6orf204pdgfrb
|
|
|
rhodococcus
|
|
|
nonetheless
|
|
|
mmrn2
|
multimerin 2|This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]
|
|
mmrn1
|
multimerin 1|Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008]
|
|
hyperinducible
|
|
|
gliostatin
|
|
|
eif2b
|
A multisubunit guanine nucleotide exchange factor which catalyzes the exchange of GDP bound to initiation factor eIF2 for GTP, generating active eIF2-GTP. In humans, it is composed of five subunits, alpha, beta, delta, gamma and epsilon.
|
|
eif2a
|
eukaryotic translation initiation factor 2A, 65kDa|EIF2A is a 65-kD protein that catalyzes the formation of puromycin-sensitive 80S preinitiation complexes (Zoll et al., 2002 [PubMed 12133843]).[supplied by OMIM, Mar 2008]
|
|
diseaseaffected
|
|
|
syndromepcos
|
|
|
decisional
|
|
|
details
|
|
|
acidification
|
Any process that reduces the internal pH of an organism, part of an organism or a cell, measured by the concentration of the hydrogen ion.
|
|
openangle
|
|
|
potentiators
|
|
|
ligandfree
|
|
|
park15
|
|
|
park16
|
|
|
park10
|
|
|
park13
|
|
|
nonenzymatic
|
|
|
treelike
|
|
|
neuropilin
|
|
|
nicastrin
|
|
|
significally
|
|
|
mucinsecreting
|
|
|
exposure
|
The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke
|
|
nonbrca1brca2
|
|
|
heterotetramerization
|
|
|
centb1
|
|
|
fibroblast
|
A connective-tissue cell of mesenchymal origin that secretes proteins and especially molecular collagen from which the extracellular fibrillar matrix of connective tissue forms.
|
|
strings
|
|
|
overactivity
|
|
|
icldn
|
|
|
compete
|
|
|
mcl1
|
myeloid cell leukemia 1|This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]
|
|
betarich
|
|
|
takotsubo
|
|
|
magnetic
|
|
|
cdx2ck20
|
|
|
ectodermal
|
|
|
ccr5binding
|
|
|
txas
|
|
|
bloodcerebrospinal
|
|
|
heph
|
hephaestin|This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
|
pp2at61
|
|
|
integrity
|
|
|
extrastriatal
|
|
|
acidinduced
|
|
|
stat5induced
|
|
|
tcrcd28induced
|
|
|
cox2765gc
|
|
|
spin
|
|
|
campath1h
|
|
|
cd1dmediated
|
|
|
malondialdehyde
|
|
|
her2addicted
|
|
|
muc16siglec9
|
|
|
neuregulin1beta
|
|
|
bloodgroup
|
|
|
trip8b
|
|
|
cm1
|
|
|
snailinduced
|
|
|
alternating
|
|
|
e2f1mediated
|
|
|
xencoded
|
|
|
dlad
|
|
|
aurora
|
|
|
erythroidspecific
|
|
|
geneand
|
|
|
replication
|
|
|
npy2r
|
neuropeptide Y receptor Y2|
|
|
dlat
|
dihydrolipoamide S-acetyltransferase|This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
|
|
fysxxlxxly
|
|
|
summarized
|
|
|
syndrom
|
|
|
cmo
|
|
|
cmm
|
|
|
cml
|
Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS.
|
|
cmk
|
|
|
radixinmoesinbinding
|
|
|
modulateds
|
|
|
cmf
|
|
|
cmd
|
|
|
cmc
|
|
|
ah1n1
|
|
|
cmv
|
|
|
cmt
|
|
|
cms
|
|
|
cmp
|
|
|
lifestylerelated
|
|
|
mortalin
|
|
|
abca1g1
|
|
|
mcf10a
|
|
|
stat1cbpp300
|
|
|
hyperexcitability
|
|
|
mcf10f
|
|
|
oxidizedldl
|
|
|
intravenously
|
|
|
adpmediated
|
|
|
filtration
|
|
|
nonneurotransmitter
|
|
|
adenocarcinomathis
|
|
|
nonswedes
|
|
|
bipolar
|
|
|
np95
|
|
|
nfsmall
|
|
|
hoxa9pbx1meis1
|
|
|
menage
|
|
|
oxpapcs
|
|
|
epigeneticsmodifying
|
|
|
homogenously
|
|
|
immunebased
|
|
|
iiinducible
|
|
|
f2pal10
|
|
|
rs1805388
|
|
|
stresses
|
|
|
receptorsplcpkcdeltanfkappab
|
|
|
tcrgammatcl1a
|
|
|
m6pigfiir
|
|
|
appwt
|
|
|
homoldcontaining
|
|
|
sequestering
|
Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere.
|
|
fbar
|
|
|
cystatinc
|
|
|
brs
|
|
|
mir149ttmir196a2cc
|
|
|
brp
|
|
|
gbr1
|
|
|
u373mg
|
|
|
brm
|
|
|
gbr2
|
|
|
brk
|
|
|
supepithelial
|
|
|
cystatins
|
|
|
brf
|
|
|
bre
|
brain and reproductive organ-expressed (TNFRSF1A modulator)|
|
|
brc
|
|
|
brb
|
|
|
bra
|
|
|
devastation
|
|
|
er6
|
|
|
cnih2
|
|
|
brichos
|
|
|
gonadotropinreleasing
|
|
|
antibeta2
|
|
|
antibeta1
|
|
|
er8
|
|
|
periimplantation
|
|
|
mage3
|
|
|
mage1
|
|
|
administering
|
|
|
mage6
|
|
|
chlorpromazine
|
A substituted phenothiazine in which the ring nitrogen at position 10 is attached to C-3 of an N,N-dimethylpropanamine moiety.
|
|
arg737
|
|
|
tgfbetastimulation
|
|
|
ascribe
|
|
|
pressurelowering
|
|
|
overstretch
|
|
|
advancedstage
|
|
|
unraveled
|
|
|
ert
|
|
|
tnt
|
|
|
u251
|
|
|
erp
|
|
|
hfgl2
|
|
|
err
|
|
|
ers
|
|
|
lipidladen
|
|
|
cytokinesis
|
The division of the cytoplasm and the plasma membrane of a cell and its separation into two daughter cells.
|
|
magea
|
|
|
d2like
|
|
|
ere
|
|
|
erf
|
Ets2 repressor factor|Members of the ETS family of transcription factors, such as ERF, regulate cell proliferation and differentiation. They share a highly conserved DNA-binding domain, the ETS domain, that recognizes the sequence GGAA/T (de Castro et al., 1997 [PubMed 9192842]). For further information on ETS transcription factors, see ETS1 (MIM 164720).[supplied by OMIM, Mar 2008]
|
|
erg
|
v-ets avian erythroblastosis virus E26 oncogene homolog|This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]
|
|
era
|
|
|
erb
|
|
|
containment
|
|
|
elbow
|
trait belonging to MESH category Anatomy Category
|
|
erm
|
|
|
taf4btaf12
|
|
|
tni
|
|
|
tnk
|
|
|
erk
|
|
|
magea12
|
melanoma antigen family A12|This gene is closely related to several other genes clustered on chromosome X. These genes may be overexpressed in tumors. Multiple alternatively spliced variants encoding the same protein have been identified. [provided by RefSeq, Jun 2014]
|
|
betaadrenoceptors
|
|
|
macroglobulin
|
|
|
alloreactive
|
|
|
mid1upregulation
|
|
|
mpd
|
|
|
ralgdsmediated
|
|
|
erf3gspt1
|
|
|
glyxaayaa
|
|
|
ask1mediated
|
|
|
amplitudes
|
|
|
subcompartments
|
|
|
monoubiquitylate
|
|
|
amphioxus
|
|
|
carriers
|
|
|
mesotrypsinogen
|
|
|
nuts
|
|
|
interalphatrypsin
|
|
|
very
|
|
|
p16rb1cyclin
|
|
|
hlac12
|
|
|
s1p3r
|
|
|
pathohistological
|
|
|
map1a
|
microtubule-associated protein 1A|This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]
|
|
map1b
|
microtubule-associated protein 1B|This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]
|
|
g6pd
|
glucose-6-phosphate dehydrogenase|This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
sh3sh2
|
|
|
lnbeta3
|
|
|
ladder
|
|
|
ultrahigh
|
|
|
pomt1
|
protein-O-mannosyltransferase 1|The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
|
|
act1traf6tak1mediated
|
|
|
antibodypositive
|
|
|
lipopolysaccharides
|
|
|
normogonadotropic
|
|
|
gtoa
|
|
|
gtoc
|
|
|
s115g
|
|
|
purging
|
|
|
fxrinduced
|
|
|
gtot
|
|
|
sugarphosphate
|
|
|
ociad2
|
OCIA domain containing 2|
|
|
ociad1
|
OCIA domain containing 1|
|
|
rcdp
|
|
|
filovirus
|
|
|
hydrogendeuterium
|
|
|
undetected
|
|
|
vasorum
|
|
|
singlelocus
|
|
|
innovative
|
|
|
xiapxaf1
|
|
|
mediatedapoptosis
|
|
|
migrationinvasiveness
|
|
|
galphai3giv
|
|
|
golgispecific
|
|
|
typelike
|
|
|
leschnyhan
|
|
|
lckzap70cblb
|
|
|
park2pacrg
|
|
|
production
|
|
|
vero
|
|
|
krasdyrk1b
|
|
|
apoptosing
|
|
|
ptpkappa
|
|
|
cog8pdf
|
|
|
reformation
|
|
|
rcd1
|
|
|
mmset
|
|
|
diseasecad
|
|
|
sleepiness
|
|
|
detergents
|
|
|
lkn1dependent
|
|
|
dkk1
|
dickkopf WNT signaling pathway inhibitor 1|This gene encodes a protein that is a member of the dickkopf family. It is a secreted protein with two cysteine rich regions and is involved in embryonic development through its inhibition of the WNT signaling pathway. Elevated levels of DKK1 in bone marrow plasma and peripheral blood is associated with the presence of osteolytic bone lesions in patients with multiple myeloma. [provided by RefSeq, Jul 2008]
|
|
ser9phosphorylated
|
|
|
homoallelism
|
|
|
phosh2x2
|
|
|
echocardiography
|
|
|
reasonably
|
|
|
tripbr2
|
|
|
alaval
|
|
|
prefusion
|
|
|
reasonable
|
|
|
feeds
|
|
|
collagenrelated
|
|
|
nacyltransferase
|
|
|
laborassociated
|
|
|
cmetaktnotch3
|
|
|
differentiationgene
|
|
|
rs4664308
|
|
|
prognosisinvasion
|
|
|
ryrs
|
|
|
lxractivating
|
|
|
h3k27me3
|
|
|
cmsjsten
|
|
|
cyp4502d64
|
|
|
myocardial
|
|
|
samestrand
|
|
|
myd88traf6erk
|
|
|
psiepsilonrack
|
|
|
synthesizing
|
|
|
rs334558
|
|
|
r52i
|
|
|
processesreview
|
|
|
phosphatebinding
|
|
|
barrier
|
|
|
d2activity
|
|
|
csq1
|
|
|
ryr3
|
ryanodine receptor 3|The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
|
|
csq2
|
|
|
exfoliative
|
|
|
legionella
|
|
|
sil2rsil4r
|
|
|
val231met
|
|
|
muller
|
|
|
mir30bc
|
|
|
oxldlstimulated
|
|
|
h9n2
|
|
|
cd14cd16
|
|
|
foxp3negative
|
|
|
cbflassociated
|
|
|
znf3
|
zinc finger protein 3|
|
|
cminduced
|
|
|
cagn
|
|
|
implicates
|
|
|
sulfoximine
|
|
|
cisinhibition
|
|
|
implicated
|
|
|
dysregulations
|
|
|
mechanistically
|
|
|
illustrate
|
|
|
her23
|
|
|
cyp2d6
|
cytochrome P450, family 2, subfamily D, polypeptide 6|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
|
erp27
|
endoplasmic reticulum protein 27|ERP27 is a noncatalytic member of the protein disulfide isomerase (PDI; see MIM 608012) family of endoplasmic reticulum (ER) proteins (Alanen et al., 2006 [PubMed 16940051]).[supplied by OMIM, Mar 2008]
|
|
tyrobp
|
TYRO protein tyrosine kinase binding protein|This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]
|
|
erp29
|
endoplasmic reticulum protein 29|This gene encodes a reticuloplasmin, a protein which resides in the lumen of the endoplasmic reticulum (ER). The protein shows sequence similarity to the protein disulfide isomerase family. However, it lacks the thioredoxin motif characteristic of this family, suggesting that this protein does not function as a disulfide isomerase. The protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
|
ironrefractory
|
|
|
ingel
|
|
|
disruptin
|
|
|
hsp27dependent
|
|
|
dogs
|
|
|
tyrosinekinase
|
|
|
lpdattached
|
|
|
pep1hsp27
|
|
|
fasbinding
|
Interacting selectively and non-covalently with any member of the death receptor (DR) family. The DR family falls within the tumor necrosis factor receptor superfamily and is characterized by a cytoplasmic region of ~80 residues termed the death domain (DD).
|
|
sarcandra
|
|
|
rac1protein
|
|
|
nkp46dependent
|
|
|
abcg1specific
|
|
|
nrf2binding
|
|
|
drb111
|
|
|
drb113
|
|
|
drb114
|
|
|
drb115
|
|
|
cdk8mediator
|
|
|
brca2linked
|
|
|
fxr
|
|
|
coronins
|
|
|
leafy
|
|
|
parp1but
|
|
|
multiplemarker
|
|
|
autoantigen
|
|
|
nfkappabrelated
|
|
|
p300cbpassociated
|
|
|
dog1
|
|
|
isoformselective
|
|
|
constancy
|
|
|
activeigf1r
|
|
|
ebvinfection
|
Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).|A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva.
|
|
contents
|
|
|
cinobufocini
|
|
|
beta3gntl1
|
|
|
convenient
|
|
|
phototherapy
|
|
|
suhexiang
|
|
|
subjects
|
|
|
ala16valsod2
|
|
|
corticolimbic
|
|
|
edn3ednrb
|
|
|
troughs
|
|
|
reticulum
|
The second compartment of the stomach of a ruminant in which folds of the mucous membrane form hexagonal cells.
|
|
k284
|
|
|
onconeuronal
|
|
|
antibodydrug
|
|
|
p00058
|
|
|
cwr22
|
|
|
vanilloid
|
|
|
telomereinitiated
|
|
|
spositive
|
|
|
remethylation
|
|
|
channelinteracting
|
|
|
olig3tnfaip3
|
|
|
trisomies
|
|
|
reserve
|
|
|
pactprotein
|
|
|
thielbehnke
|
|
|
hhpathways
|
|
|
k5k14
|
|
|
cotl1
|
coactosin-like F-actin binding protein 1|This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]
|
|
antiganglioside
|
|
|
hraslike
|
|
|
rs3751972
|
|
|
rorgamma
|
|
|
hypercholesterolaemia
|
|
|
autoreactivity
|
|
|
multistep
|
|
|
fam172a
|
family with sequence similarity 172, member A|
|
|
g0s2
|
G0/G1 switch 2|
|
|
nonenhancing
|
|
|
tracers
|
|
|
eubacterial
|
|
|
fkbp25
|
|
|
roundabout
|
|
|
nonpolarized
|
|
|
p53null
|
|
|
hallmarked
|
|
|
udpg
|
|
|
cgmp
|
|
|
runs
|
|
|
ema
|
|
|
runt
|
|
|
mallorydenk
|
|
|
mnli
|
|
|
runx
|
|
|
emk
|
|
|
daoa
|
D-amino acid oxidase activator|This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]
|
|
emt
|
A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
|
|
troponintropomyosin
|
|
|
emp
|
|
|
ems
|
|
|
ncx2
|
|
|
rip3mlkl
|
|
|
palmitoylates
|
|
|
mts1
|
|
|
abolishes
|
|
|
palmitoylated
|
|
|
dd86
|
|
|
cytoplasmic
|
|
|
vasp
|
vasodilator-stimulated phosphoprotein|Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [provided by RefSeq, Jul 2008]
|
|
stnf
|
|
|
antiaging
|
|
|
mdr1
|
|
|
mdr3
|
|
|
mdr2
|
|
|
granulomas
|
|
|
peptide151
|
|
|
hnf1ac12orf43
|
|
|
rbck2
|
|
|
kinaseactivitydependent
|
|
|
drawn
|
|
|
vegfavegfr1flt1
|
|
|
tgfbetaindependent
|
|
|
encounters
|
|
|
tmem138
|
|
|
mitogeninduced
|
|
|
eipa
|
|
|
taspase
|
|
|
handful
|
|
|
reovirus
|
|
|
carbamoyl
|
|
|
tnpo3depleted
|
|
|
antiadenoviral
|
|
|
calciumdependent
|
|
|
papilla
|
|
|
extracorporeal
|
|
|
atpaf2
|
ATP synthase mitochondrial F1 complex assembly factor 2|This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
|
essentially
|
|
|
atpaf1
|
ATP synthase mitochondrial F1 complex assembly factor 1|This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
|
|
han
|
|
|
deltacsrc
|
|
|
disarms
|
|
|
postlung
|
|
|
aacid
|
|
|
p40auf1
|
|
|
pjnk2
|
|
|
heterogeneities
|
|
|
selfidentified
|
|
|
p53suv39h1ehmt1
|
|
|
tone
|
|
|
cadps2
|
Ca++-dependent secretion activator 2|This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
|
|
cr3tlr2
|
|
|
codon
|
|
|
engulfs
|
|
|
hae
|
|
|
ag49
|
|
|
xanthinuria
|
A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
|
|
gabpbeta
|
|
|
overfeeding
|
|
|
strong
|
|
|
gln18
|
|
|
prp19cdc5l
|
|
|
echs1
|
enoyl CoA hydratase, short chain, 1, mitochondrial|The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]
|
|
rcdmd
|
|
|
gsisinvolves
|
|
|
pro402
|
|
|
hospitalization
|
|
|
ethnogeographically
|
|
|
asscoiated
|
|
|
bioavailability
|
|
|
p63mediated
|
|
|
p62sqstm1
|
|
|
dicerdependent
|
|
|
tumur
|
|
|
migrationrelated
|
|
|
hyperadiponectinemia
|
|
|
intakes
|
|
|
hyperphagic
|
|
|
hyperphagia
|
|
|
interleukin1induced
|
|
|
eml4alk
|
|
|
gnr
|
|
|
gns
|
glucosamine (N-acetyl)-6-sulfatase|The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
|
|
rab4rab11positive
|
|
|
edman
|
|
|
reciprocal
|
|
|
sculpt
|
|
|
pgl2
|
|
|
hav
|
|
|
promotertargeting
|
|
|
gne
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase|The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
|
gnk
|
|
|
endpoints
|
|
|
raralpha
|
|
|
fus2
|
|
|
recipientdonor
|
|
|
fus1
|
|
|
mtorcatalyzed
|
|
|
homeodomain
|
|
|
tgfbr2875ga
|
|
|
lchad
|
|
|
setif
|
|
|
spectrometric
|
|
|
cyp3a41b
|
|
|
formationrepair
|
|
|
transinfection
|
|
|
antigeninteracting
|
|
|
jouberin
|
|
|
pdgfbdependent
|
|
|
phosphomapk
|
|
|
rbpjsin3a
|
|
|
pglyrp3
|
|
|
stromaldependent
|
|
|
nsgnl3l
|
|
|
pfibronectincytokine
|
|
|
antiwnt5a
|
|
|
pe13f
|
|
|
pylori
|
|
|
hsp90senp3
|
|
|
hogg1ser326cys
|
|
|
atmchk2cdc25a
|
|
|
fuse
|
|
|
isoformspecific
|
|
|
p22phox
|
|
|
retrotranslocone
|
|
|
gtpbindingdefective
|
|
|
ser219gly
|
|
|
rs2241712
|
|
|
ihpk2
|
|
|
mia
|
melanoma inhibitory activity|
|
|
client
|
|
|
cgamma1calcium
|
|
|
klhl21
|
kelch-like family member 21|
|
|
klhl20
|
kelch-like family member 20|The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]
|
|
netrin4neogenin
|
|
|
pyloriderived
|
|
|
lipidapoai
|
|
|
nontruncating
|
|
|
mid
|
|
|
lipemic
|
|
|
hsav1
|
|
|
degranulate
|
|
|
leukaemogenesis
|
|
|
mtorc2dependent
|
|
|
mix
|
|
|
respirationimpaired
|
|
|
pancrease
|
|
|
mcf7derived
|
|
|
cd271
|
|
|
phagosomal
|
|
|
unpleasant
|
|
|
receptorntrinteracting
|
|
|
openings
|
|
|
tauroursodeoxycholate
|
|
|
pp2ab56delta
|
|
|
aktgsk3
|
|
|
matpl374f
|
|
|
diphosphoinositol
|
|
|
hilpda
|
hypoxia inducible lipid droplet-associated|
|
|
argonaute
|
|
|
mfap5
|
microfibrillar associated protein 5|This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
|
|
erf3
|
|
|
lkb1independent
|
|
|
protein73
|
|
|
hairless
|
|
|
eroded
|
|
|
mir
|
|
|
cosubstrate
|
|
|
stargazinlike
|
|
|
pdis
|
|
|
atg9containing
|
|
|
pdip
|
|
|
fingerprintlike
|
|
|
ile179
|
|
|
glucosamine
|
|
|
night
|
|
|
pdia
|
|
|
fluoride
|
|
|
tgfb1irs2foxo3a
|
|
|
hearingloss
|
A general term for the complete or partial loss of the ability to hear from one or both ears.
|
|
mutbrca1
|
|
|
cep131
|
centrosomal protein 131kDa|
|
|
mastoparan
|
A member of the class of mastopyrans that is a 14-amino acid polypeptide comprising isoleucyl, asparaginyl, leucyl, lysyl, alanyl, leucyl, alanyl, alanyl, leucyl, alanyl, lysyl, lysyl, isoleucyl, and leucinamide residues coupled in sequence. It is the major active component of the venom of the vespid wasp, Vespula lewisii and causes degranulation of mast cells.
|
|
cep135
|
centrosomal protein 135kDa|This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]
|
|
betareceptors
|
|
|
zetachain
|
|
|
ifnindependent
|
|
|
hmcm6
|
|
|
hmcm7
|
|
|
contaminating
|
|
|
mapkcox2dependent
|
|
|
canril
|
|
|
entropic
|
|
|
ncarbamoylglutamate
|
|
|
tumorangiogenesis
|
|
|
dehydrogenasesvon
|
|
|
gef1
|
|
|
cortical
|
Cortex of kidney.
|
|
usp47
|
ubiquitin specific peptidase 47|
|
|
trpc5trpm3
|
|
|
hsf4b
|
|
|
elaelr
|
|
|
hsf4a
|
|
|
six5
|
SIX homeobox 5|The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
|
|
six6
|
SIX homeobox 6|The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]
|
|
six1
|
SIX homeobox 1|The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
|
|
six2
|
SIX homeobox 2|This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]
|
|
six3
|
SIX homeobox 3|This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]
|
|
cck8
|
|
|
repeatcontaining
|
|
|
architectural
|
|
|
mir212mir132
|
|
|
strokelike
|
|
|
hif1alphammp1
|
|
|
aindependent
|
|
|
pdzrhogef
|
|
|
camkiidelta
|
|
|
motilityinvasion
|
|
|
geft
|
|
|
gefs
|
|
|
daec
|
|
|
c6orf48
|
chromosome 6 open reading frame 48|
|
|
rendering
|
|
|
obligate
|
|
|
p53mdm2slug
|
|
|
antirage
|
|
|
lupusprone
|
|
|
c1562t
|
|
|
cd44cd24
|
|
|
parietalis
|
|
|
startgap1
|
|
|
catalyse
|
|
|
angami
|
|
|
tsc12
|
|
|
hitrap
|
|
|
gammadeltatcrcd3
|
|
|
trpv5mediated
|
|
|
tcii
|
|
|
cochlin
|
|
|
catalyst
|
|
|
mgc4607ccm2
|
|
|
il10highil12low
|
|
|
antigena0201
|
|
|
machrs
|
|
|
isoc2
|
isochorismatase domain containing 2|
|
|
fcgammars
|
|
|
glycylsarcosine
|
|
|
photoreactive
|
|
|
hr1b
|
|
|
abcc1mrp1
|
|
|
col1a2
|
collagen, type I, alpha 2|This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
|
|
glycosyltransferase
|
|
|
col1a1
|
collagen, type I, alpha 1|This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
|
|
startgaps
|
|
|
polyps
|
Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base.|A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004|A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.
|
|
skbr3
|
|
|
hlab8drb103
|
|
|
fcgammari
|
|
|
mln4924
|
|
|
park6
|
|
|
choctaw
|
|
|
aorta
|
The great arterial trunk that carries blood from the heart to be distributed by branch arteries through the body.
|
|
suppressivefactor
|
|
|
zxda
|
zinc finger, X-linked, duplicated A|This gene encodes one of two duplicated zinc finger genes on chromosome Xp11. This gene is the telomeric copy; GeneID 158586 ZXDB is the more centromeric copy. The two genes have 98% nucleotide sequence similarity, and the predicted proteins contain 10 tandem zinc finger motifs. [provided by RefSeq, Nov 2009]
|
|
xrcc1ag
|
|
|
yfamily
|
|
|
vwm
|
|
|
xiii
|
|
|
vwd
|
|
|
apice
|
|
|
vwf
|
Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis.
|
|
stevensjohnson
|
|
|
vwa
|
|
|
constriction
|
A region of the polytene chromosome where the diameter is considerably decreased, probably resulting from local differences in chromosome organization.
|
|
apkciotalambdadependent
|
|
|
dichroism
|
|
|
atg8lc3
|
|
|
test
|
|
|
cbfa2t3glis2positive
|
|
|
blp2
|
|
|
slc38a5
|
solute carrier family 38, member 5|The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013]
|
|
mda9dependent
|
|
|
slc38a1
|
solute carrier family 38, member 1|Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]
|
|
slc38a3
|
solute carrier family 38, member 3|
|
|
slc38a2
|
solute carrier family 38, member 2|
|
|
conformations
|
|
|
lymphadenopathy
|
Enlargment (swelling) of a lymph node.
|
|
dnaligase
|
|
|
rhoap38
|
|
|
met666val
|
|
|
cop1cop1d
|
|
|
mdig
|
|
|
biomembrane
|
|
|
fazf
|
|
|
provwf
|
|
|
tbc1d32
|
|
|
cofilin
|
|
|
rs1321311
|
|
|
concept
|
|
|
d594g
|
|
|
deltaf508cftr
|
|
|
pseudoelr
|
|
|
rasextracellular
|
|
|
hypogonadotropic
|
|
|
fgf10fgf
|
|
|
battle
|
|
|
antiapoptoticcytoprotective
|
|
|
functionand
|
|
|
receptortak1p38
|
|
|
p53induced
|
|
|
varenicline
|
|
|
fgf2tgfbeta1
|
|
|
ck20
|
|
|
mammaglobins
|
|
|
cnot2
|
CCR4-NOT transcription complex, subunit 2|This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
|
|
atf4dependent
|
|
|
gigo
|
|
|
ddost
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)|This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]
|
|
autophagosome
|
A double-membrane-bounded compartment in which endogenous cellular material is sequestered; known as autophagosome in yeast.
|
|
mammaglobina
|
|
|
recoding
|
|
|
oculocutaneous
|
|
|
nemo44111
|
|
|
syphilis
|
A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.
|
|
leukemiarestricted
|
|
|
nonviral
|
|
|
betathal
|
|
|
aurkahdac6dependent
|
|
|
gug
|
|
|
rasgrf1
|
Ras protein-specific guanine nucleotide-releasing factor 1|The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]
|
|
rasgrf2
|
Ras protein-specific guanine nucleotide-releasing factor 2|RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]
|
|
kcnq25
|
|
|
turns
|
|
|
aneusomy
|
|
|
gun
|
|
|
kcnq23
|
|
|
bpiexpression
|
|
|
sgk11
|
|
|
cleavageactivating
|
|
|
gut
|
1: The alimentary canal or a portion thereof, especially the intestine or stomach. 2: The embryonic digestive tube, consisting of the foregut, the midgut, and the hindgut.
|
|
ck2a
|
|
|
scflike
|
|
|
leptospira
|
|
|
p62lc3
|
|
|
alfa
|
|
|
alphachimaerin
|
|
|
regulatoryt
|
|
|
subchondral
|
|
|
dls
|
|
|
mycosis
|
|
|
pparalphadependent
|
|
|
ppargammadelta
|
|
|
del13q
|
|
|
alfy
|
|
|
ca2pkcmapks
|
|
|
sittingdrop
|
|
|
varicose
|
|
|
shares
|
|
|
arachidonoylglycerol
|
|
|
cxcr4cd26
|
|
|
shared
|
|
|
alertness
|
|
|
repairinduced
|
|
|
heterozygocity
|
|
|
metabolismreview
|
|
|
salmonellacontaining
|
|
|
sexspecific
|
|
|
mkrn1
|
makorin ring finger protein 1|This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
|
|
alf1
|
|
|
betahelical
|
|
|
ovalbuminspecific
|
|
|
antigalectin9
|
|
|
p53apoptotic
|
|
|
sending
|
|
|
cnnm2
|
cyclin and CBS domain divalent metal cation transport mediator 2|This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
|
cnnm4
|
cyclin and CBS domain divalent metal cation transport mediator 4|This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]
|
|
odontoblast
|
Any of the elongated radially arranged cells on the surface of the dental pulp that secrete dentin.
|
|
slc4a7nek10
|
|
|
pancreatobiliarytype
|
|
|
reagents
|
|
|
immunoactivities
|
|
|
ndr12
|
|
|
athanogene
|
|
|
fbs
|
|
|
orai3
|
ORAI calcium release-activated calcium modulator 3|
|
|
fbp
|
|
|
regardless
|
|
|
psoriasislike
|
|
|
extra
|
|
|
peripherial
|
|
|
nicotineactivated
|
|
|
subiculum
|
The zone of transition between the parahippocampal gyrus and Ammon's horn of the hippocampus.
|
|
parenchymal
|
|
|
immunosubunits
|
|
|
fbg
|
|
|
fbd
|
|
|
ccar1
|
cell division cycle and apoptosis regulator 1|
|
|
cnsl
|
|
|
fbh
|
|
|
inositol
|
Any cyclohexane-1,2,3,4,5,6-hexol.
|
|
fbl
|
fibrillarin|This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]
|
|
ifixalpha
|
|
|
ctf2
|
|
|
noscapine
|
|
|
neohesperidin
|
|
|
ctf8
|
|
|
ib2
|
|
|
appsweps1de9
|
|
|
fb1
|
|
|
ermitochondria
|
|
|
reducedfunction
|
|
|
nydsp8
|
|
|
cns9
|
|
|
hoscar
|
|
|
craniometaphyseal
|
|
|
eda2r
|
ectodysplasin A2 receptor|EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2011]
|
|
hcvcc
|
|
|
ibm
|
|
|
deimination
|
The hydrolysis of peptidyl-arginine to form peptidyl-citrulline.
|
|
ibc
|
|
|
ibd
|
|
|
hha
|
|
|
sok1
|
|
|
arg904gln
|
|
|
ctfg
|
|
|
rdgb
|
|
|
disinfection
|
|
|
ibp
|
|
|
ibs
|
A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.|A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.
|
|
ibv
|
|
|
chip
|
Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells.
|
|
alphaspectrin
|
|
|
hsamirna4276
|
|
|
pronapsin
|
|
|
apo1cd95jnk
|
|
|
singletons
|
|
|
chin
|
|
|
embryonal
|
|
|
chia
|
|
|
neuroglobulins
|
|
|
proscillaridin
|
|
|
hhh
|
|
|
vlike
|
|
|
dialysis
|
|
|
v1br
|
|
|
discussion
|
|
|
laf4
|
|
|
multipe
|
|
|
flk1neuropilin1
|
|
|
positional
|
|
|
gtpdependent
|
|
|
antigenpulsed
|
|
|
preanalytical
|
|
|
phosphostar
|
|
|
deteriorate
|
|
|
phenotypewas
|
|
|
chi2
|
|
|
resukts
|
|
|
airways
|
|
|
jak2mutated
|
|
|
polimorphism
|
|
|
coumarins
|
|
|
cdcp1sfk
|
|
|
bcl11axl
|
|
|
his362
|
|
|
drastic
|
|
|
sh2bbeta
|
|
|
r28e
|
|
|
wavebreak
|
|
|
del443ins54
|
|
|
optn
|
optineurin|This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
|
|
rxraligand
|
|
|
optc
|
opticin|Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]
|
|
ddrs
|
|
|
cd25hi
|
|
|
endarterectomy
|
|
|
brain
|
1: The portion of the vertebrate central nervous system that constitutes the organ of thought and neural coordination, includes all the higher nervous centers receiving stimuli from the sense organs and interpreting and correlating them to formulate the motor impulses, is made up of neurons and supporting and nutritive structures, is enclosed within the skull, and is continuous with the spinal cord through the foramen magnum. Also named encephalon. 2: A nervous center in invertebrates comparable in position and function to the vertebrate brain.
|
|
rs4942254
|
|
|
nonamyloidogenic
|
|
|
disparities
|
|
|
deregentinsoluble
|
|
|
still
|
|
|
myh7
|
myosin, heavy chain 7, cardiac muscle, beta|Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
|
|
bonecartilage
|
|
|
dro1
|
|
|
e2f
|
|
|
lightdark
|
|
|
cholinoceptor
|
|
|
ppardependent
|
|
|
scllmo2
|
|
|
smtnl1
|
|
|
smtnl2
|
smoothelin-like 2|
|
|
correspondence
|
|
|
electrophysiologically
|
|
|
ddr2
|
discoidin domain receptor tyrosine kinase 2|Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation, and metabolism. In several cases the biochemical mechanism by which RTKs transduce signals across the membrane has been shown to be ligand induced receptor oligomerization and subsequent intracellular phosphorylation. This autophosphorylation leads to phosphorylation of cytosolic targets as well as association with other molecules, which are involved in pleiotropic effects of signal transduction. RTKs have a tripartite structure with extracellular, transmembrane, and cytoplasmic regions. This gene encodes a member of a novel subclass of RTKs and contains a distinct extracellular region encompassing a factor VIII-like domain. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
|
|
nonprogressors
|
|
|
ddr1
|
discoidin domain receptor tyrosine kinase 1|Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
|
|
shtnfrifc
|
|
|
histocompatibiility
|
|
|
refineries
|
|
|
adrenaline
|
A catecholamine in which the aminoethyl side-chain is hydroxy-substituted at C-1 and methylated on nitrogen.
|
|
noctanoyl
|
|
|
calsequestrin1
|
|
|
proadhesive
|
|
|
peptideindependent
|
|
|
inversion
|
|
|
fgf2deficient
|
|
|
drop
|
|
|
hsp90a
|
|
|
b5802
|
|
|
sjlj
|
|
|
nonhepatic
|
|
|
antiadipogenic
|
|
|
usf1
|
upstream transcription factor 1|This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]
|
|
forsythia
|
|
|
challenged
|
|
|
karpas
|
|
|
lipidpoor
|
|
|
challenges
|
|
|
tgraising
|
|
|
myd88il1r1
|
|
|
year
|
|
|
monitors
|
|
|
delta6d
|
|
|
prognostic
|
|
|
rxrlxr
|
|
|
pravastatin
|
A carboxylic ester resulting from the formal condensation of (S)-2-methylbutyric acid with the hydroxy group adjacent to the ring junction of (3R,5R)-7-[(1S,2S,6S,8S,8aR)-6,8-dihydroxy-2-methyl-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid. Derived from microbial transformation of mevastatin, pravastatin is a reversible inhibitor of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA). The sodium salt is used for lowering cholesterol and preventing cardiovascular disease. It is one of the lower potency statins, but has the advantage of fewer side effects compared with lovastatin and simvastatin.
|
|
rostral
|
|
|
mbr
|
|
|
astragalus
|
|
|
jak1statactivating
|
|
|
mbs
|
|
|
ftoftm
|
|
|
at1receptors
|
|
|
factor1induced
|
|
|
prp43p
|
|
|
protonated
|
|
|
dyingback
|
|
|
psors2
|
|
|
psors1
|
|
|
diagnostic
|
|
|
tonebp
|
|
|
nacetylglucosaminyltransferasei
|
|
|
methaqualone
|
|
|
dependencies
|
|
|
advantages
|
|
|
oligonucleotide
|
|
|
tirofiban
|
|
|
ttkhmps1
|
|
|
tangles
|
|
|
transition
|
|
|
kinasemb
|
|
|
leukoplakias
|
|
|
urokinasedirected
|
|
|
mif173gc
|
|
|
bag6ubl4atrc35
|
|
|
ser311
|
|
|
ser312
|
|
|
ser313
|
|
|
fabrys
|
|
|
mir425
|
microRNA 425|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
ser318
|
|
|
cd5559
|
|
|
anapc1dependent
|
|
|
flipping
|
|
|
rip140
|
|
|
mdc1dependent
|
|
|
ser703phosphorylation
|
|
|
constructing
|
|
|
znrd1
|
zinc ribbon domain containing 1|This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
|
trigsh
|
|
|
iaaa
|
|
|
mekk23mek5erk5
|
|
|
oaw42
|
|
|
endotheliumbased
|
|
|
u73122
|
|
|
apoptosisthe
|
|
|
nfbib
|
|
|
gpd1l
|
glycerol-3-phosphate dehydrogenase 1-like|The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]
|
|
cooling
|
|
|
hsb1
|
|
|
dendrimer
|
|
|
hsb2
|
|
|
nep2
|
|
|
pittsburgh
|
|
|
brains
|
|
|
tektin
|
|
|
glutathionedependent
|
|
|
adriamycin
|
|
|
gastroenteritis
|
A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
|
|
tams
|
|
|
baja
|
|
|
exonuclease
|
|
|
nonemergent
|
|
|
colombians
|
|
|
rs3922
|
|
|
carboxyl
|
|
|
transferred
|
|
|
prerequisites
|
|
|
pai1vtn
|
|
|
ala26val
|
|
|
hbinduced
|
|
|
numa1
|
nuclear mitotic apparatus protein 1|This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
|
|
anemiafagene
|
|
|
enhancee
|
|
|
hsp27b1
|
|
|
cysgly
|
|
|
borderassociated
|
|
|
gingivitis
|
|
|
rnarelated
|
|
|
transrepressing
|
|
|
efhc1
|
EF-hand domain (C-terminal) containing 1|This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
|
|
piiinp
|
|
|
ankyrinbdependent
|
|
|
thromboelastometry
|
|
|
hdio2
|
|
|
ccng2cyclin
|
|
|
numas
|
|
|
crswnp
|
|
|
carcinmoma
|
|
|
glucuronides
|
|
|
chemosensitive
|
|
|
argonaute12
|
|
|
apoe
|
apolipoprotein E|The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
|
importantly
|
|
|
uvbinduced
|
|
|
ltbetarcontrolled
|
|
|
wnt3aactivated
|
|
|
urokinasepa
|
|
|
acidosisinduced
|
|
|
pattern
|
|
|
rs712012
|
|
|
aacytidine
|
|
|
elongation
|
|
|
g1p3
|
|
|
rs2476601
|
|
|
hairpin
|
|
|
femur
|
The bone that extends from the pelvis to the knee, being the longest and largest bone in the body; its head articulates with the acetabulum of the hip bone, and distally, the femur, along with the patella and tibia, forms the knee joint.
|
|
e1afmediated
|
|
|
cftrsilenced
|
|
|
nktcl
|
|
|
sumomodified
|
|
|
ccrp
|
|
|
beta6a3gluval
|
|
|
enriches
|
|
|
hathct
|
|
|
starlike
|
|
|
gsk3a
|
glycogen synthase kinase 3 alpha|This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011]
|
|
gsk3b
|
glycogen synthase kinase 3 beta|The protein encoded by this gene is a serine-threonine kinase, belonging to the glycogen synthase kinase subfamily. It is involved in energy metabolism, neuronal cell development, and body pattern formation. Polymorphisms in this gene have been implicated in modifying risk of Parkinson disease, and studies in mice show that overexpression of this gene may be relevant to the pathogenesis of Alzheimer disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
|
|
filipinos
|
|
|
enriched
|
|
|
mir6153p
|
|
|
rs8034191
|
|
|
reexpressing
|
|
|
typep53
|
|
|
rgscontaining
|
|
|
aipl1
|
aryl hydrocarbon receptor interacting protein-like 1|Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
|
caspasedependent
|
|
|
ccl14a1274
|
|
|
pleomorphic
|
|
|
prochemerin
|
|
|
gp160
|
|
|
pphenylenediamine
|
|
|
trangenic
|
|
|
tmem114
|
|
|
decatenase
|
|
|
six1alpha5beta1
|
|
|
hifp4h
|
|
|
kng1adipoq
|
|
|
arg183
|
|
|
amer1
|
APC membrane recruitment protein 1|The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
|
|
interferonstimulated
|
|
|
bifurcation
|
|
|
irritant
|
|
|
betaarretin
|
|
|
p2y6
|
|
|
brca2focus
|
|
|
perceptive
|
|
|
gainof
|
|
|
mir762
|
microRNA 762|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
mir760
|
microRNA 760|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
tumorcell
|
|
|
cgmppkg
|
|
|
rad18
|
RAD18 E3 ubiquitin protein ligase|The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq, Jul 2008]
|
|
sscell
|
|
|
bhec1mps1
|
|
|
burst
|
|
|
anchored
|
|
|
bursa
|
|
|
intramolecular
|
|
|
autoreceptor
|
|
|
dbax
|
|
|
aox1
|
aldehyde oxidase 1|Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
|
|
phosphocholine
|
The phosphate of choline; and the parent compound of the phosphocholine family.
|
|
diffusional
|
|
|
ccm1
|
|
|
ccm3
|
|
|
ghreceptor
|
|
|
colours
|
|
|
sdf1567
|
|
|
beta2sp
|
|
|
activitybased
|
|
|
deathapoptotic
|
|
|
esophagealcancer
|
Tumors or cancer of the ESOPHAGUS.
|
|
ltrdirected
|
|
|
slc12a3
|
solute carrier family 12 (sodium/chloride transporter), member 3|This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
adhesionindependent
|
|
|
a880t
|
|
|
atf3fl
|
|
|
dba2
|
|
|
hrg1
|
|
|
levelspgrn
|
|
|
brn2mitf
|
|
|
betaarrestin1dependent
|
|
|
paragonist
|
|
|
biguanide
|
|
|
chemerinrarres2
|
|
|
nile
|
|
|
medaka
|
|
|
substituion
|
|
|
wellbalanced
|
|
|
htrail
|
|
|
zeb1
|
zinc finger E-box binding homeobox 1|This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]
|
|
prohypertrophic
|
|
|
ccmc
|
|
|
zeb2
|
zinc finger E-box binding homeobox 2|The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
|
|
stressunfolded
|
|
|
mapatumumab
|
|
|
meprinmediated
|
|
|
hva
|
|
|
evaluable
|
|
|
ampdependent
|
|
|
hve
|
|
|
pkbgamma
|
|
|
exploit
|
|
|
amine
|
A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.
|
|
abetaos
|
|
|
hvs
|
|
|
amino
|
|
|
hela229
|
|
|
camkkalpha
|
|
|
cmybbmi1
|
|
|
gynecomastia
|
|
|
withaferin
|
|
|
epiblast
|
The upper layer of the bilaminar embryonic disc present during the second week of a blastula that gives rise to the ectoderm after gastrulation.
|
|
tropical
|
|
|
cingulin
|
|
|
bmpr2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)|This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]
|
|
cytoskeletonassociated
|
|
|
aerd
|
|
|
ruvblike
|
|
|
thyrotropinreleasing
|
|
|
suggesst
|
|
|
elselectin
|
|
|
skiv2l
|
superkiller viralicidic activity 2-like (S. cerevisiae)|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
|
|
hv1
|
|
|
rs113420705
|
|
|
selfreactive
|
|
|
brat1
|
BRCA1-associated ATM activator 1|The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012]
|
|
sdf1binding
|
|
|
gm130positive
|
|
|
virchow
|
|
|
c143ga
|
|
|
bmprs
|
|
|
hostdefense
|
|
|
desnsity
|
|
|
adrp
|
|
|
mucus
|
|
|
microarrays
|
|
|
znf521
|
zinc finger protein 521|
|
|
cdk5p25induced
|
|
|
hcnt3
|
|
|
prokr1
|
|
|
prokr2
|
|
|
sterol
|
A 3-hydroxy steroid closely related to cholestan-3-ol.
|
|
doublenegative
|
|
|
lbcinduced
|
|
|
isomerspecific
|
|
|
develop
|
|
|
vegf1154gavegf634gcmmp91562ct
|
|
|
e2f1driven
|
|
|
phosphoser81
|
|
|
evaluting
|
|
|
sg2m
|
|
|
riskreview
|
|
|
pclo
|
piccolo presynaptic cytomatrix protein|The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
|
|
meisprep
|
|
|
pcld
|
|
|
attentiondeficithyperactivity
|
|
|
acdk
|
|
|
acdl
|
|
|
ccr6
|
chemokine (C-C motif) receptor 6|This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
|
|
ccr7
|
chemokine (C-C motif) receptor 7|The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
|
|
piddosome
|
|
|
plp2a4
|
|
|
pmrlcser19
|
|
|
bronchiolitis
|
A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
|
|
nonhealing
|
|
|
utii
|
|
|
rs699664aa
|
|
|
histotype
|
|
|
chemotaxis
|
The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
|
|
sirt1mediated
|
|
|
cd75s
|
|
|
cd40lstimulated
|
|
|
chemoattracts
|
|
|
p160
|
|
|
centromeresinner
|
|
|
pax5pml
|
|
|
pp2c
|
|
|
inflammatory
|
|
|
sinovenous
|
|
|
mpomediated
|
|
|
dementiau
|
|
|
p14arfp15ink4bp16ink4a
|
|
|
knockdownmediated
|
|
|
death
|
A permanent cessation of all vital functions: the end of life; can be applied to a whole organism or to a part of an organism.
|
|
mrnatargeting
|
|
|
vpreb
|
|
|
dopaminergic
|
|
|
tyr992
|
|
|
serinerepeat
|
|
|
hek293e
|
|
|
disulfidebonded
|
|
|
disproportionate
|
|
|
xrcc4like
|
|
|
pp27
|
|
|
proteinsensitive
|
|
|
ucp32
|
|
|
rs8190315
|
|
|
ligandstimulated
|
|
|
r197l
|
|
|
heparinbinding
|
Interacting selectively and non-covalently with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.
|
|
neo1
|
neogenin 1|This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
|
|
pkcdeltacsrc
|
|
|
headpiece
|
|
|
tucancardinal
|
|
|
sumoylationdeficient
|
|
|
heightened
|
|
|
d301v
|
|
|
haras
|
|
|
synphilin1a
|
|
|
fgfrtacc
|
|
|
uvainduction
|
|
|
denaturantresistant
|
|
|
prebeta1hdl
|
|
|
fam36a
|
|
|
all1af9
|
|
|
output
|
|
|
all1af4
|
|
|
tricuspid
|
|
|
verbal
|
|
|
exposed
|
|
|
cc2d1b
|
coiled-coil and C2 domain containing 1B|
|
|
cdhectnnb
|
|
|
phosphoinositidedependent
|
|
|
exposes
|
|
|
p53myc
|
|
|
htd114
|
|
|
salicylic
|
|
|
chemosensitizer
|
|
|
xtes
|
|
|
communityacquired
|
|
|
uutuc
|
|
|
betataxilin
|
|
|
hdac6p856s
|
|
|
sh2b3
|
SH2B adaptor protein 3|This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
|
|
ibmlike
|
|
|
chemosensitized
|
|
|
retargets
|
|
|
propagating
|
|
|
fractures
|
|
|
cyd1
|
|
|
osteophytes
|
|
|
trainingacidosis
|
|
|
glb1
|
galactosidase, beta 1|This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
|
|
karyopherinalphas
|
|
|
pyk2rac1nox1
|
|
|
brca153bp1depleted
|
|
|
fractured
|
|
|
cd47iap
|
|
|
ebsdm
|
|
|
c2domain
|
|
|
metallopeptidases
|
|
|
rs10792367
|
|
|
sh2b1
|
SH2B adaptor protein 1|This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
|
|
l277l
|
|
|
enos4ab
|
|
|
ntpdase
|
|
|
gsk3trap150
|
|
|
referred
|
|
|
backup
|
|
|
epoxygenase
|
|
|
nesprins
|
|
|
mmp7hbegf
|
|
|
imediated
|
|
|
tissuecells
|
|
|
as1
|
|
|
ire1alphamediated
|
|
|
ring3brd2
|
|
|
gipi3k
|
|
|
shrinking
|
|
|
cpeptide
|
|
|
intervention
|
An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects.
|
|
faim2
|
Fas apoptotic inhibitory molecule 2|
|
|
gbeta3
|
|
|
gbeta2
|
|
|
gbeta5
|
|
|
gbeta4
|
|
|
probdnf
|
|
|
hyperparathyroidism
|
A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
|
|
activatormediated
|
|
|
mapkap1
|
mitogen-activated protein kinase associated protein 1|This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]
|
|
mapkap2
|
|
|
endothelialmirna
|
|
|
rs511895
|
|
|
chorion
|
The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta.
|
|
macc1
|
metastasis associated in colon cancer 1|MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]
|
|
perimyocarditis
|
|
|
brg1mediated
|
|
|
protuberans
|
|
|
gbetas
|
|
|
detoxified
|
|
|
embedded
|
|
|
wfdc8
|
WAP four-disulfide core domain 8|This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]
|
|
atrisk
|
|
|
progestrone
|
|
|
detoxifies
|
|
|
aneurysm
|
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
|
|
mbnl1
|
muscleblind-like splicing regulator 1|
|
|
mbnl2
|
muscleblind-like splicing regulator 2|This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
|
|
mbnl3
|
muscleblind-like splicing regulator 3|This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
|
|
skews
|
|
|
gbetal
|
|
|
gipcapplakt
|
|
|
tmem106bmap6
|
|
|
sicam
|
|
|
cdc5l
|
cell division cycle 5-like|The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]
|
|
photorhabdus
|
|
|
neurotrophins3
|
|
|
fusions
|
|
|
cezanne1
|
|
|
cezanne2
|
|
|
alphapositive
|
|
|
flavocytochrome
|
|
|
smoc2
|
SPARC related modular calcium binding 2|This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
|
|
tlks
|
|
|
sobria
|
|
|
misrouting
|
|
|
reexpress
|
|
|
hsrad51
|
|
|
inactivation
|
|
|
hdpr1
|
|
|
nacetyldglucosaminecalix4arene
|
|
|
her2mutant
|
|
|
csfinduced
|
|
|
core2
|
|
|
core3
|
|
|
rs2171363
|
|
|
fibromatosis
|
A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.
|
|
trip230
|
|
|
poor
|
|
|
eversmokers
|
|
|
hepg2adm
|
|
|
heterotrimers
|
|
|
endeavors
|
|
|
ca2calmodulinindependent
|
|
|
queensland
|
|
|
cdc55
|
|
|
pool
|
A mix of specimens from multiple individuals.
|
|
cerclage
|
|
|
il13il4r
|
|
|
ubn1
|
ubinuclein 1|
|
|
cores
|
|
|
misnomer
|
|
|
ala379val
|
|
|
apc2cell
|
|
|
interspecies
|
|
|
ceases
|
|
|
c482t
|
|
|
fgf2fgfr1cep57
|
|
|
wntbetacatenin
|
|
|
thr174met
|
|
|
nonigan
|
|
|
mir135avldlrp38
|
|
|
osteoporosis
|
Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.
|
|
wms
|
|
|
wtegfr
|
|
|
wmh
|
|
|
foliaceusigg
|
|
|
alualu
|
|
|
wml
|
|
|
cfdna
|
|
|
eddddb1vprbp
|
|
|
wasprelated
|
|
|
magenecdin
|
|
|
twothirds
|
|
|
d2rd42r
|
|
|
hbd2ig
|
|
|
vc11
|
|
|
decide
|
|
|
ramified
|
|
|
lymphomononuclear
|
|
|
tspyl5
|
TSPY-like 5|
|
|
wm9
|
|
|
neurocutaneous
|
|
|
uvrexposed
|
|
|
targetgene
|
|
|
rantes403ga
|
|
|
hbci
|
|
|
hbco
|
|
|
rs718772
|
|
|
osm
|
oncostatin M|Oncostatin M is a member of a cytokine family that includes leukemia-inhibitory factor, granulocyte colony-stimulating factor, and interleukin 6. This gene encodes a growth regulator which inhibits the proliferation of a number of tumor cell lines. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. [provided by RefSeq, Jul 2008]
|
|
e109k
|
|
|
brucellosis
|
A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
|
|
taf7
|
TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa|The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008]
|
|
airspace
|
|
|
suburothelial
|
|
|
torsinadeltae
|
|
|
nullity
|
|
|
taf6
|
TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa|Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
|
|
dasatanib
|
|
|
hcap18ll37
|
|
|
ang2tie2pathway
|
|
|
fakmediated
|
|
|
bclxlbim
|
|
|
trnasec
|
|
|
osc
|
Ovarian somatic adult stage cells originated in the Siomi lab.
|
|
nbds
|
|
|
cues
|
|
|
alphagmr
|
|
|
codeveloping
|
|
|
vacaintoxicated
|
|
|
peroxiredoxin
|
|
|
kiaa1377
|
|
|
bkb2
|
|
|
mir491mediated
|
|
|
asy
|
|
|
lull1
|
|
|
enantiomers
|
|
|
aftiphilinp200gammasynergin
|
|
|
e2eralphawip1
|
|
|
immunophenotyping
|
|
|
glu291
|
|
|
mllaf4
|
|
|
excess
|
|
|
cyp4x1
|
cytochrome P450, family 4, subfamily X, polypeptide 1|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. [provided by RefSeq, Jul 2008]
|
|
pik3cap110alpha
|
|
|
asc
|
|
|
nbd2
|
|
|
tryptopholinduced
|
|
|
cathd
|
|
|
inspired
|
|
|
gammaprimed
|
|
|
grbetaindependent
|
|
|
ifngammar1
|
|
|
ifngammar2
|
|
|
betacatenintcfactivated
|
|
|
fsp27
|
|
|
fic1related
|
|
|
destroyed
|
|
|
ase
|
|
|
jra
|
|
|
nudt1
|
nudix (nucleoside diphosphate linked moiety X)-type motif 1|Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Jul 2008]
|
|
pik3r3akt
|
|
|
nudt5
|
nudix (nucleoside diphosphate linked moiety X)-type motif 5|This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]
|
|
presensitization
|
|
|
pachyonychia
|
|
|
y665
|
|
|
aggressivity
|
|
|
dio2
|
deiodinase, iodothyronine, type II|The protein encoded by this gene belongs to the iodothyronine deiodinase family. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It is highly expressed in the thyroid, and may contribute significantly to the relative increase in thyroidal T3 production in patients with Graves disease and thyroid adenomas. This protein contains selenocysteine (Sec) residues encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
|
dio3
|
deiodinase, iodothyronine, type III|The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in the pregnant uterus, placenta, fetal and neonatal tissues, suggesting that it plays an essential role in the regulation of thyroid hormone inactivation during embryological development. This protein contains a selenocysteine (Sec) residue, which is essential for efficient enzyme activity. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]
|
|
st1926
|
|
|
betaf1
|
|
|
cellsmm3
|
|
|
pseudopod
|
A temporary cytoplasmic extrusion by means of which an ameba or other ameboid organism or cell moves about or engulfs food.
|
|
ash
|
|
|
irsphosphatidylinositol
|
|
|
g190c
|
|
|
timeaveraged
|
|
|
caprin1g3bp1
|
|
|
t22q35p23
|
|
|
monocytic
|
|
|
c985ct
|
|
|
chippmet1ala142del
|
|
|
ser3205
|
|
|
betasecretases
|
|
|
udpgt1
|
|
|
cannibalism
|
|
|
lowering
|
|
|
efficacypredicting
|
|
|
achebuche
|
|
|
diol
|
|
|
hepoxilin
|
|
|
ssh2
|
slingshot protein phosphatase 2|This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
|
thiol
|
|
|
selfavoidance
|
|
|
tympanosclerosis
|
|
|
producing
|
|
|
puerperium
|
|
|
cnbinding
|
|
|
readilyreleasable
|
|
|
earlyresponse
|
|
|
apg3paut1p
|
|
|
mcaf1mediated
|
|
|
paclitaxelmediated
|
|
|
top2beta
|
|
|
cardioversion
|
|
|
ex916
|
|
|
betasecretase1
|
|
|
os9
|
osteosarcoma amplified 9, endoplasmic reticulum lectin|This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
|
cmycs
|
|
|
erk12induced
|
|
|
trim72mg53
|
|
|
fcgammariii
|
|
|
bernardsoulier
|
|
|
dipoledipole
|
|
|
fcgammariib
|
|
|
fcgammariia
|
|
|
slc25a4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4|This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]
|
|
fatsecreted
|
|
|
c799
|
|
|
hypospadia
|
a urethral opening located below the normal location; in males, the opening is usually on the ventral surface of the penis, and in females, the opening is usually in the vagina
|
|
vski
|
|
|
s396
|
|
|
baculovirus
|
|
|
amppkacreb
|
|
|
surpassed
|
|
|
tlptap63
|
|
|
hexanal
|
|
|
reject
|
|
|
erkctgf
|
|
|
rnasensitive
|
|
|
cyp7b
|
|
|
grainyheadlike
|
|
|
flt3npm1
|
|
|
reuptake
|
|
|
pancreastatin
|
|
|
rsfcyclin
|
|
|
densityinduced
|
|
|
rs3132468c
|
|
|
rhbdd1
|
rhomboid domain containing 1|
|
|
gli1mediated
|
|
|
anticd11d
|
|
|
npatlsm10
|
|
|
grin2c
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2C|This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
|
|
tgfbetareview
|
|
|
dqb1
|
|
|
ctb9klhdc5deficient
|
|
|
bipolarity
|
|
|
cd30stimulated
|
|
|
p53bcl2
|
|
|
gtplike
|
|
|
p53rfp
|
|
|
boulardii
|
|
|
sarcolemmal
|
|
|
diabetogenic
|
|
|
exostoses
|
An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage.
|
|
a673
|
|
|
scs2p
|
|
|
ntprocnp
|
|
|
cccdna
|
|
|
interquartile
|
|
|
probability
|
|
|
ikkalphabetanfkappab
|
|
|
mites
|
|
|
p53mediated
|
|
|
neurotensininterleukin8cxcl1
|
|
|
absence
|
|
|
junbcd30
|
|
|
wnk1spak
|
|
|
differed
|
|
|
ivs21718del2bpct
|
|
|
misalignment
|
|
|
evening
|
|
|
rnarecognition
|
|
|
factorcofilin
|
|
|
cd40activated
|
|
|
aphasia
|
A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
|
|
mansoni
|
|
|
hirudin
|
|
|
gp130jak1
|
|
|
myocardiocytes
|
|
|
liquefied
|
|
|
boneassociated
|
|
|
radial
|
|
|
insulinoma
|
A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.|A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.
|
|
cleavages
|
|
|
heavy
|
|
|
thrombi
|
|
|
transcribe
|
|
|
antisecretory
|
|
|
humanpapillomavirus
|
|
|
erk1dependent
|
|
|
exclusiveness
|
|
|
hypoxiaelevated
|
|
|
tucan
|
|
|
cellsand
|
|
|
cardiotoxicity
|
|
|
gammacrystallinsare
|
|
|
tenril2il21
|
|
|
t1514c
|
|
|
tap73alpha
|
|
|
nonheartbeating
|
|
|
singlecopy
|
|
|
doppler
|
|
|
hba1c95
|
|
|
fibromas
|
|
|
epididymisspecific
|
|
|
carboxyterminally
|
|
|
pseudomonas
|
|
|
cfhrs800292
|
|
|
leu34
|
|
|
leu32
|
|
|
nonpathogenic
|
|
|
vp16
|
|
|
arhgef5src
|
|
|
b7h1expressing
|
|
|
americas
|
|
|
american
|
|
|
cd150mediated
|
|
|
thermotolerance
|
Any process that increases heat tolerance of an organism in response to high temperatures.
|
|
cagcaa
|
|
|
deptorreview
|
|
|
c1galt
|
|
|
rs7528684
|
|
|
d167
|
|
|
ccr6in
|
|
|
tyr55
|
|
|
tyr54
|
|
|
hdl7ndashc
|
|
|
ppp3ca
|
protein phosphatase 3, catalytic subunit, alpha isozyme|
|
|
ppp3cb
|
protein phosphatase 3, catalytic subunit, beta isozyme|
|
|
aktactive
|
|
|
deficiencyrelated
|
|
|
nfat4
|
|
|
nfat5
|
nuclear factor of activated T-cells 5, tonicity-responsive|The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
nfat1
|
|
|
nfat2
|
|
|
nfat3
|
|
|
erbb2erbb3
|
|
|
mdamb435s
|
|
|
fcdassociated
|
|
|
hnenac
|
|
|
proteinopathies
|
|
|
expanded
|
|
|
antiandrogenic
|
|
|
monotherapy
|
|
|
arg194trp
|
|
|
proteindna
|
|
|
basal
|
Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia.
|
|
hst3gal
|
|
|
gerrmline
|
|
|
igfipi3kaktmtor
|
|
|
eddp
|
|
|
hkv15
|
|
|
nonreversible
|
|
|
igfiiigfir
|
|
|
autoregulatory
|
|
|
microinflammation
|
|
|
all38
|
|
|
alphafetoproteinproducing
|
|
|
nfatc
|
|
|
cdloop
|
|
|
forceexposed
|
|
|
gp100expressing
|
|
|
phobia
|
|
|
wasnt
|
|
|
hsamir15ahsamir161
|
|
|
sensitizers
|
|
|
nonallelic
|
|
|
lentivirus
|
|
|
extents
|
|
|
anticitrulline
|
|
|
randomly
|
|
|
nherf
|
|
|
homedomain
|
|
|
proteinsdependent
|
|
|
organs
|
|
|
hnpcclynch
|
|
|
wnts
|
|
|
sinensis
|
|
|
megakaryoblasts
|
|
|
fexon
|
|
|
eightexon
|
|
|
adducin
|
|
|
hcgbeta5
|
|
|
geneencoded
|
|
|
citrulline
|
|
|
proline
|
|
|
anticd115
|
|
|
caliber
|
|
|
spearmans
|
|
|
sulfonate
|
|
|
blinkin
|
|
|
hif1a
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)|This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]
|
|
brf2
|
BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit|This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]
|
|
gipc1
|
GIPC PDZ domain containing family, member 1|GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]
|
|
gipc2
|
GIPC PDZ domain containing family, member 2|
|
|
rpc4cyp21tnx
|
|
|
morg1
|
|
|
fox2
|
|
|
achalasia
|
An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
|
|
c2362f
|
|
|
arising
|
|
|
prematurity
|
|
|
asters
|
|
|
kif1balpha
|
|
|
myctagged
|
|
|
rs3129882
|
|
|
hertargeting
|
|
|
p120ctn
|
|
|
spla2iia
|
|
|
intercepting
|
|
|
arteritis
|
Arterial inflammation.
|
|
lytically
|
|
|
phenomenon
|
|
|
psamediated
|
|
|
arip4
|
|
|
snrnas
|
|
|
g361
|
|
|
ppgalnact6
|
|
|
tlymphocyteassociated
|
|
|
pi3kakterk12
|
|
|
lufaxin
|
|
|
glucocorticoidtreated
|
|
|
spink1cftr
|
|
|
orm1
|
orosomucoid 1|This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]
|
|
etsconsensus
|
|
|
merosin
|
|
|
leftventricular
|
|
|
ap2epsilon
|
|
|
igginduced
|
|
|
competing
|
|
|
combinations
|
|
|
rs2111699
|
|
|
c2gntmcarrying
|
|
|
pkcdeltasrcerk12
|
|
|
il13ra2
|
interleukin 13 receptor, alpha 2|The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13. [provided by RefSeq, Jul 2008]
|
|
il13ra1
|
interleukin 13 receptor, alpha 1|The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008]
|
|
jade1s
|
|
|
aml1positive
|
|
|
cxcl1cxcl9
|
|
|
foxo3afkhrl1
|
|
|
transducting
|
|
|
elmod1
|
ELMO/CED-12 domain containing 1|
|
|
deiminase
|
|
|
elmod2
|
ELMO/CED-12 domain containing 2|This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010]
|
|
hypk
|
huntingtin interacting protein K|
|
|
hypa
|
|
|
hypb
|
|
|
affiliative
|
|
|
hrasls2
|
|
|
assiociated
|
|
|
hrasls3
|
|
|
dysregulating
|
|
|
cia2acia1
|
|
|
cdand
|
|
|
cyp17a1b5
|
|
|
boxindependent
|
|
|
hibiscus
|
|
|
epicatechin
|
|
|
lysosomalrelated
|
|
|
appps1htau
|
|
|
transcriptomic
|
|
|
foxp3target
|
|
|
dcstamp
|
dendrocyte expressed seven transmembrane protein|This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
|
|
v0v1
|
|
|
clostridial
|
|
|
polyphosphateprotein
|
|
|
colipase
|
|
|
snpsand
|
|
|
saponin
|
A glycoside that is a compound containing one or more hydrophilic glycoside moieties combined with a lipophilic triterpenoid or steroid derivative. Found in particular abundance in plant species.
|
|
trail1
|
|
|
anticholinergic
|
|
|
influxdependent
|
|
|
hgfstimulated
|
|
|
rotavirus
|
|
|
vesiculovirus
|
|
|
taxanebased
|
|
|
adenoviruses
|
|
|
a2301
|
|
|
smtitin
|
|
|
abruptly
|
|
|
adp
|
A purine ribonucleoside 5'-diphosphate having adenine as the nucleobase.
|
|
hantavirus
|
|
|
minorities
|
|
|
canadians
|
|
|
nitrogenrich
|
|
|
ink4a
|
|
|
ppm1dwip1
|
|
|
ink4b
|
|
|
ciitapiv
|
|
|
lowproduction
|
|
|
sirt2
|
sirtuin 2|This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010]
|
|
epsiloncleavages
|
|
|
diseasesreview
|
|
|
proton
|
|
|
hyperfiltration
|
|
|
cancervby
|
|
|
magi2induced
|
|
|
sirt5
|
sirtuin 5|This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2010]
|
|
lysine63linked
|
|
|
modin
|
|
|
nmdareceptor
|
An ionotropic glutamate receptor activity that exhibits slow gating by glutamate, acts by opening a nonselective cation channel, and can be activated by L-aspartate.
|
|
underexpressed
|
|
|
rkefakfeeer
|
|
|
dr3dq2
|
|
|
hmec1
|
|
|
empty
|
|
|
ganglion
|
A group of nerve cell bodies located outside the central nervous system. The term is occasionally applied to certain nuclear groups within the brain or spinal cord, such as the basal ganglia.
|
|
falsepositive
|
|
|
uptaking
|
|
|
pmpcb
|
peptidase (mitochondrial processing) beta|This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]
|
|
coassociation
|
|
|
modelling
|
|
|
dbinding
|
|
|
suberoyl
|
|
|
mrnaexpression
|
|
|
phts
|
|
|
hsamir3423p
|
|
|
argininosuccinate
|
|
|
hnrnph15q35
|
|
|
furrow
|
A furrow that may be found on the cell surface. Examples are the cleavage furrow observed during cytokinesis in animal cells, and the cingulum and sulcus found in some dinoflagellates.
|
|
e225k
|
|
|
etilogical
|
|
|
neurobblastoma
|
|
|
bulemia
|
|
|
substantiates
|
|
|
ins145p3r1
|
|
|
prlinduced
|
|
|
p62sqstm1mediated
|
|
|
richter
|
|
|
trx80
|
|
|
cnk1driven
|
|
|
lobespecific
|
|
|
peptidome
|
|
|
adh1c11
|
|
|
adh1c12
|
|
|
deoxynucleotidyl
|
|
|
y315
|
|
|
y311
|
|
|
achaindomain
|
|
|
pointofcare
|
|
|
ipla2
|
|
|
glycogen
|
A polydisperse, highly branched glucan composed of chains of D-glucopyranose residues in alpha(1->4) glycosidic linkage, joined together by alpha(1->6) glycosidic linkages. A small number of alpha(1->3) glycosidic linkages and some cumulative alpha(1->6) links also may occur. The branches in glycogen typically contain 8 to 12 glucose residues.
|
|
sclerosisfrontotemporal
|
|
|
flt3itds
|
|
|
mob2
|
MOB kinase activator 2|
|
|
mob1
|
|
|
composition
|
|
|
fkhrl1
|
|
|
resectability
|
|
|
propionylcoa
|
|
|
fatty
|
|
|
bmp4induced
|
|
|
vigilin
|
|
|
ovol3
|
|
|
ovol2
|
ovo-like zinc finger 2|
|
|
criptogrp78
|
|
|
bdim
|
|
|
calcification
|
|
|
mycnin
|
|
|
tak1catalyzed
|
|
|
nacetylglucosaminylation
|
|
|
pge2ep4pakt
|
|
|
gdap1
|
ganglioside induced differentiation associated protein 1|This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
|
|
phe357
|
|
|
srsf2
|
serine/arginine-rich splicing factor 2|The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010]
|
|
obviously
|
|
|
hsp70
|
|
|
mobp
|
myelin-associated oligodendrocyte basic protein|
|
|
worldclass
|
|
|
reverbs
|
|
|
igh3
|
|
|
reviewed
|
|
|
pseudopodia
|
|
|
a020101
|
|
|
reviewes
|
|
|
reviewer
|
|
|
neulaxova
|
|
|
kinetochoreassociated
|
|
|
dgcr8
|
DGCR8 microprocessor complex subunit|This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
|
|
ser169
|
|
|
micall1mediated
|
|
|
whsc1
|
Wolf-Hirschhorn syndrome candidate 1|This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
|
|
whsc2
|
|
|
dgcr2
|
DiGeorge syndrome critical region gene 2|Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
|
|
ser167
|
|
|
ser166
|
|
|
shortcut
|
|
|
dgcr6
|
DiGeorge syndrome critical region gene 6|DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]
|
|
mondoa
|
|
|
convulxin
|
|
|
ifndriven
|
|
|
bacteriocidal
|
|
|
ilt2hlag
|
|
|
apoaiciiiaiv
|
|
|
reemphasizes
|
|
|
proliferationpromoting
|
|
|
ighv
|
|
|
caenorhabditis
|
|
|
fakerk
|
|
|
capacities
|
|
|
alkylosing
|
|
|
ighd
|
immunoglobulin heavy constant delta|
|
|
defa4
|
defensin, alpha 4, corticostatin|Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]
|
|
countertransport
|
|
|
b71b72
|
|
|
metavinculin
|
|
|
snx10induced
|
|
|
overfatness
|
|
|
maltreatment
|
|
|
candidemia
|
|
|
allelesin
|
|
|
rev3l
|
REV3-like, polymerase (DNA directed), zeta, catalytic subunit|
|
|
reninangiotensisn
|
|
|
epitheliallike
|
|
|
lmp1
|
|
|
honeycomb
|
|
|
il4producing
|
|
|
icil1ra1
|
|
|
lipc
|
lipase, hepatic|LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008]
|
|
lipb
|
|
|
lipe
|
lipase, hormone-sensitive|The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]
|
|
tuberculosisspecific
|
|
|
lipg
|
lipase, endothelial|The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]
|
|
lipf
|
lipase, gastric|This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
|
|
ermc
|
|
|
homodimerforming
|
|
|
asp353glu
|
|
|
yolk
|
The cytoplasmic part that serves as a nutrient reserve or energy source for the developing embryo.
|
|
lips
|
|
|
hormad2
|
|
|
cxcl10
|
chemokine (C-X-C motif) ligand 10|This antimicrobial gene encodes a chemokine of the CXC subfamily and ligand for the receptor CXCR3. Binding of this protein to CXCR3 results in pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. [provided by RefSeq, Sep 2014]
|
|
cxcl13
|
chemokine (C-X-C motif) ligand 13|B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Oct 2014]
|
|
cxcl12
|
chemokine (C-X-C motif) ligand 12|This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
|
|
cxcl14
|
chemokine (C-X-C motif) ligand 14|This antimicrobial gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Sep 2014]
|
|
cxcl17
|
|
|
cxcl16
|
chemokine (C-X-C motif) ligand 16|
|
|
smad2smad4
|
|
|
bcl6bcorsirt1
|
|
|
triglycine
|
|
|
nadnadh
|
|
|
vprbinding
|
|
|
httninduced
|
|
|
competitions
|
|
|
kataninp80p60mediated
|
|
|
fviia
|
|
|
serpinb1
|
serpin peptidase inhibitor, clade B (ovalbumin), member 1|The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
|
xrcc1g28152a
|
|
|
serpinb3
|
serpin peptidase inhibitor, clade B (ovalbumin), member 3|
|
|
serpinb2
|
serpin peptidase inhibitor, clade B (ovalbumin), member 2|
|
|
serpinb5
|
serpin peptidase inhibitor, clade B (ovalbumin), member 5|
|
|
rhs
|
|
|
fviii
|
|
|
serpinb6
|
serpin peptidase inhibitor, clade B (ovalbumin), member 6|The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
|
|
largeartery
|
|
|
ccl2producing
|
|
|
metastasectomy
|
|
|
undergone
|
|
|
hypothalamicpituitaryadrenocortical
|
|
|
multivalent
|
|
|
pfn1
|
profilin 1|This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]
|
|
assists
|
|
|
zn2dependent
|
|
|
working
|
|
|
inflammationmediated
|
|
|
osmotically
|
|
|
papua
|
|
|
lyophilized
|
|
|
ccancer
|
|
|
hsd17b3
|
hydroxysteroid (17-beta) dehydrogenase 3|This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
|
|
antifibrinolytic
|
|
|
transcriptionepigenetic
|
|
|
convertasemediated
|
|
|
mildstage
|
|
|
silence
|
|
|
hgrpr
|
|
|
cullinbased
|
|
|
rho
|
rhodopsin|Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq, Jul 2008]
|
|
pghs2
|
|
|
unimpaired
|
|
|
c238ga
|
|
|
inhibitor2147
|
|
|
hcdependent
|
|
|
il4i1
|
interleukin 4 induced 1|This gene encodes a protein with limited similarity to L-amino acid oxidase which contains the conserved amino acids thought to be involved in catalysis and binding of flavin adenine dinucleotide (FAD) cofactor. The expression of this gene can be induced by interleukin 4 in B cells, however, expression of transcripts containing the first two exons of the upstream gene is found in other cell types. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
|
|
n1smase
|
|
|
discectomy
|
|
|
purine
|
A heterobicyclic aromatic organic compound comprising a pyrimidine ring fused to an imidazole ring; the parent compound of the purines.
|
|
c521delt
|
|
|
coexpresssed
|
|
|
placing
|
|
|
pard6bpar6
|
|
|
rnsmediated
|
|
|
ppar
|
|
|
cd26dppiv
|
|
|
acyanotic
|
|
|
mirna185
|
|
|
ccn2alphavbeta3
|
|
|
cers4cers6
|
|
|
msk1
|
|
|
msk2
|
|
|
prilocaine
|
An amide-type local anaesthetic in which N-propyl-DL-alanine and 2-methylaniline have combined to form the amide bond.
|
|
blt1giopi3kerk
|
|
|
cultureexpanded
|
|
|
fads12
|
|
|
limpii
|
|
|
hcmvencoded
|
|
|
apoblipoprotein
|
|
|
similar
|
|
|
cdasf
|
|
|
cxadr
|
coxsackie virus and adenovirus receptor|The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]
|
|
ordered
|
|
|
interventions
|
|
|
pa233vfs74
|
|
|
heterodimers
|
|
|
cystatinlike
|
|
|
rpechoroid
|
|
|
proprionate
|
|
|
betachain
|
|
|
autocleavage
|
|
|
lansoprazole
|
A sulfoxide that has formula C16H14F3N3O2S.
|
|
alphasyninduced
|
|
|
immunoreconstitution
|
|
|
nrf2inrf2
|
|
|
application
|
|
|
upainduced
|
|
|
hdgt6
|
|
|
department
|
|
|
nondrinkers
|
|
|
slx1
|
|
|
miniprocollagen
|
|
|
nf90
|
|
|
slx4
|
SLX4 structure-specific endonuclease subunit|This gene encodes a structure-specific endonuclease subunit. The encoded protein contains a central BTB domain and it forms a multiprotein complex with the ERCC4(XPF)-ERCC1, MUS81-EME1, and SLX1 endonucleases, and also associates with MSH2/MSH3 mismatch repair complex, telomere binding complex TERF2(TRF2)-TERF2IP(RAP1), the protein kinase PLK1 and the uncharacterized protein C20orf94. The multiprotein complex is required for repair of specific types of DNA lesions and is critical for cellular responses to replication fork failure. The encoded protein acts as a docking platform for the assembly of multiple structure-specific endonucleases.[provided by RefSeq, Jan 2011]
|
|
tstage
|
primary tumor staging
|
|
ps1derived
|
|
|
mediumterm
|
|
|
assayed
|
|
|
dlc1kibra
|
|
|
tshincreased
|
|
|
hypertenion
|
|
|
c85t
|
|
|
correlated
|
|
|
ccchemokines
|
|
|
resolving
|
|
|
reticulons
|
|
|
correlates
|
|
|
hebp1
|
heme binding protein 1|The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008]
|
|
nercmesothelin
|
|
|
abce1
|
ATP-binding cassette, sub-family E (OABP), member 1|The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
hormoneindependent
|
|
|
noiseinduced
|
|
|
broncoalveolar
|
|
|
canalicular
|
|
|
isletderived
|
|
|
hschpc
|
|
|
postcleavage
|
|
|
fcgbp
|
Fc fragment of IgG binding protein|
|
|
cd3zetazap70grb2
|
|
|
iinteracting
|
|
|
hyperresponse
|
|
|
compact
|
|
|
osteoinductive
|
|
|
bjab
|
The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line.
|
|
hnsccs
|
|
|
diseasesusceptibility
|
|
|
qrfp
|
pyroglutamylated RFamide peptide|The P518 precursor protein can be processed into several RF (arg-phe)-amide peptides, including P518. RF-amide peptides share a common C-terminal motif and are involved in cell signaling through G protein-coupled receptors (Jiang et al., 2003 [PubMed 12714592]).[supplied by OMIM, Mar 2008]
|
|
linespecific
|
|
|
photophoresis
|
|
|
nup214abl1
|
|
|
sntg2
|
syntrophin, gamma 2|This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]
|
|
cellcontaining
|
|
|
tnfalphawisp1
|
|
|
telling
|
|
|
dismutation
|
|
|
ulveal
|
|
|
dephosphorylated
|
|
|
thymoquineinduced
|
|
|
voriconazole
|
A triazole-based antifungal agent used for the treatment of esophageal candidiasis, invasive pulmonary aspergillosis, and serious fungal infections caused by Scedosporium apiospermum and Fusarium spp. It is an inhibitor of cytochrome P450 2C9 (CYP2C9) and CYP3A4.
|
|
dephosphorylates
|
|
|
plys183arg
|
|
|
hifvegf
|
|
|
plateletreduced
|
|
|
ko143
|
|
|
sedentary
|
|
|
enforce
|
|
|
rigiditystrength
|
|
|
dpboc
|
|
|
meiosisspecific
|
|
|
endodomain
|
|
|
dehydrocostus
|
|
|
motoneurons
|
|
|
jump
|
|
|
notwithstanding
|
|
|
ilkmediated
|
|
|
macrophageinduced
|
|
|
suppressions
|
|
|
tbmn
|
|
|
setmediated
|
|
|
reverbalpha
|
|
|
elongase
|
|
|
hspa2
|
heat shock 70kDa protein 2|
|
|
ezrinradixinmoesinrage
|
|
|
hspa6
|
heat shock 70kDa protein 6 (HSP70B')|
|
|
hspa5
|
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)|The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. It is localized in the lumen of the endoplasmic reticulum (ER), and is involved in the folding and assembly of proteins in the ER. As this protein interacts with many ER proteins, it may play a key role in monitoring protein transport through the cell.[provided by RefSeq, Sep 2010]
|
|
mif4gd
|
MIF4G domain containing|This gene encodes a protein which interacts with the N-terminus of the stem-loop binding protein (SLBP) and the 3' end of histone mRNA. This interaction facilitates the activation of histone mRNA translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
|
|
hspa9
|
heat shock 70kDa protein 9 (mortalin)|This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]
|
|
c1858t
|
|
|
hepatocelluar
|
|
|
cryopreservation
|
|
|
cooccur
|
|
|
andrographolidemediated
|
|
|
pololike
|
|
|
rhorhotekinsignaling
|
|
|
mcf7tamr
|
|
|
antism
|
|
|
pyrgos
|
|
|
ll37hcap18
|
|
|
cklfsf18
|
|
|
fasciitis
|
|
|
staphylokinase
|
|
|
zinconly
|
|
|
etohexokinase
|
|
|
patents
|
|
|
g1607gg
|
|
|
aiiinitiated
|
|
|
hypercoagulable
|
|
|
capillarized
|
|
|
alphaiispectrin
|
|
|
brca1interacting
|
|
|
manage
|
|
|
clara
|
|
|
subserve
|
|
|
suprasellar
|
|
|
mutatation
|
|
|
metdependent
|
|
|
microinvasive
|
|
|
hjurpcenpahistone
|
|
|
sapkgammajnk1
|
|
|
clarp
|
|
|
anoikisinducing
|
|
|
biophysical
|
|
|
allcone
|
|
|
antisperm
|
|
|
hlacw
|
|
|
rangtpstimulated
|
|
|
e378g
|
|
|
inductionnuclear
|
|
|
ezrin
|
|
|
tttc
|
|
|
tttg
|
|
|
monocarboxylic
|
|
|
salvages
|
|
|
plgfsvegfr1
|
|
|
multikinase
|
|
|
tttt
|
|
|
acidbound
|
|
|
actual
|
|
|
malsrf
|
|
|
asah1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1|This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
|
hlac1
|
|
|
egfrviiiexpressing
|
|
|
nsrebps
|
|
|
caskin1
|
CASK interacting protein 1|
|
|
meet
|
|
|
meastasis
|
|
|
camkiidependent
|
|
|
links
|
|
|
promotertranscription
|
|
|
releaseactivated
|
|
|
ire1
|
|
|
linke
|
|
|
reglation
|
|
|
pulling
|
|
|
sought
|
|
|
chordoid
|
|
|
chd1ltctpcdc25ccdk1
|
|
|
nr2b
|
|
|
nr2c
|
|
|
sodiumrelated
|
|
|
narp
|
|
|
nr2d
|
|
|
youngerolder
|
|
|
welander
|
|
|
c6589dela
|
|
|
characerized
|
|
|
glc1c
|
|
|
filament
|
Part of the stamen in a flower that supports the anther. A chainlike series of cells, as in many algae.
|
|
hypercalciuric
|
|
|
hypercalciuria
|
|
|
peeling
|
|
|
ires
|
|
|
efg2mt
|
|
|
pax8ppargamma1
|
|
|
gng2
|
guanine nucleotide binding protein (G protein), gamma 2|This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]
|
|
polymophism
|
|
|
sf2asf
|
|
|
hdm2induced
|
|
|
desensitizes
|
|
|
germinalcenter
|
|
|
crossingover
|
|
|
desensitized
|
|
|
vegfr1vascular
|
|
|
maintenancefailure
|
|
|
p1a
|
|
|
p14arfmediated
|
|
|
phdependent
|
|
|
asphishiscys
|
|
|
including
|
|
|
myenteric
|
|
|
smurf2mediated
|
|
|
interceptor
|
|
|
psgr
|
|
|
tgfbeta1stimulated
|
|
|
rab27amyripmyosin
|
|
|
vps26bretromer
|
|
|
thrombocythemia
|
|
|
moebius
|
|
|
gymnasts
|
|
|
interplayed
|
|
|
cecal
|
|
|
exonskipping
|
|
|
helas
|
|
|
albrights
|
|
|
wells
|
|
|
cynarin
|
|
|
asssociaed
|
|
|
p10
|
|
|
p11
|
|
|
p12
|
|
|
p14
|
|
|
p15
|
|
|
p16
|
|
|
p17
|
|
|
p18
|
|
|
p19
|
|
|
amd1
|
adenosylmethionine decarboxylase 1|This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013]
|
|
epithelialendothelial
|
|
|
microbiome
|
A collection or collectivity of microorganisms.
|
|
myocarditis
|
An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
|
|
antiinsulin
|
|
|
university
|
|
|
slide
|
|
|
gpd1
|
glycerol-3-phosphate dehydrogenase 1 (soluble)|This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
|
|
gists
|
|
|
pdgfrab
|
|
|
crpexposure
|
|
|
nherf1nherf2
|
|
|
attachments
|
|
|
devised
|
|
|
hxb51
|
|
|
fgf23related
|
|
|
constitute
|
|
|
mir301
|
|
|
mir300
|
microRNA 300|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
mir302
|
|
|
transitions
|
|
|
mir184mediated
|
|
|
special
|
|
|
growthregulatory
|
|
|
c3221
|
|
|
scd200
|
|
|
barkor
|
|
|
rnf43
|
ring finger protein 43|The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
|
|
lowchloride
|
|
|
rnf41
|
ring finger protein 41, E3 ubiquitin protein ligase|This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
|
|
rnf40
|
ring finger protein 40, E3 ubiquitin protein ligase|The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
|
|
angiofibroma
|
|
|
conamediated
|
|
|
mir218tpd52
|
|
|
obsessive
|
|
|
hsws1swsap1
|
|
|
mir30e
|
|
|
mir30d
|
|
|
appprotease
|
|
|
mir30a
|
|
|
lrpprc
|
leucine-rich pentatricopeptide repeat containing|This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]
|
|
mir30c
|
|
|
mir30b
|
|
|
hlab48micadelmicb0107
|
|
|
oas1
|
2'-5'-oligoadenylate synthetase 1, 40/46kDa|This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Mutations in this gene have been associated with host susceptibility to viral infection. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
|
oas3
|
2'-5'-oligoadenylate synthetase 3, 100kDa|This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]
|
|
oas2
|
2'-5'-oligoadenylate synthetase 2, 69/71kDa|This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
|
hmg17
|
|
|
hmg14
|
|
|
ascl1pathway
|
|
|
fueled
|
|
|
xcl1
|
chemokine (C motif) ligand 1|This antimicrobial gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Sep 2014]
|
|
timer
|
|
|
times
|
|
|
sox40l
|
|
|
mcsfdependent
|
|
|
card8nalp3
|
|
|
prlstimulated
|
|
|
htsnp
|
|
|
timed
|
|
|
samesex
|
|
|
jagged1serrate
|
|
|
reassessment
|
|
|
thr90
|
|
|
seventeen
|
|
|
endoglycosidasef
|
|
|
antiro52
|
|
|
bicaudald1
|
|
|
peroxides
|
Compounds of structure ROOR'.
|
|
pecam1cd31
|
|
|
ctnnb1activating
|
|
|
mapksnai2
|
|
|
polycythemic
|
|
|
pharmacoresistance
|
|
|
brsk2
|
BR serine/threonine kinase 2|
|
|
brsk1
|
BR serine/threonine kinase 1|
|
|
cul3roc1
|
|
|
cxcl12receptor
|
|
|
wrapped
|
|
|
junbsatb1
|
|
|
chimaeric
|
|
|
cdeltaerk2
|
|
|
rac1p29s
|
|
|
p87pikap
|
|
|
necroinflammatory
|
|
|
ighbcl2
|
|
|
pdx1directed
|
|
|
hsamir302b
|
|
|
fgfr3tacc3
|
|
|
epidermal
|
|
|
shhrelated
|
|
|
glutaredoxin1
|
|
|
crescents
|
|
|
cd30lpds
|
|
|
exposurebased
|
|
|
chk1ser280
|
|
|
tetraspanin
|
|
|
hdac12corestrest
|
|
|
cck1r
|
|
|
descriptions
|
|
|
zfp57induced
|
|
|
enforced
|
|
|
pex5
|
peroxisomal biogenesis factor 5|The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
|
|
pex4
|
|
|
pex6
|
peroxisomal biogenesis factor 6|This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. [provided by RefSeq, Oct 2008]
|
|
pex9
|
|
|
reg4
|
|
|
sf1126
|
|
|
reg1
|
|
|
ecuadorian
|
|
|
axonglial
|
|
|
enforces
|
|
|
tomm22
|
translocase of outer mitochondrial membrane 22 homolog (yeast)|The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008]
|
|
respressor
|
|
|
krasnras
|
|
|
prp31
|
|
|
klr2
|
|
|
subdivisions
|
|
|
battles
|
|
|
ptdinspki
|
|
|
blades
|
|
|
asthmatics
|
|
|
testtstpositive
|
|
|
stepsgolgi
|
|
|
regs
|
|
|
pexg
|
|
|
receptortype
|
|
|
tensin1
|
|
|
tensin2
|
|
|
tensin3
|
|
|
mir520c3p
|
|
|
anrilmediated
|
|
|
cimf
|
|
|
prp3p
|
|
|
lipoproteinactivated
|
|
|
ctcfmediated
|
|
|
rs11711441
|
|
|
transendocytosis
|
|
|
cimp
|
|
|
coinfected
|
|
|
isotypes
|
|
|
cimt
|
|
|
indo
|
|
|
keap1review
|
|
|
il6vegf
|
|
|
adppotentiation
|
|
|
xanthohumol
|
A member of the class of chalcones that is trans-chalcone substituted by hydroxy groups at positions 4, 2' and 4', a methoxy group at position 6' and a prenyl group at position 3'. Isolated from Humulus lupulus, it induces apoptosis in human malignant glioblastoma cells.
|
|
cd2bp3
|
|
|
nonidentical
|
|
|
atp6v1e1
|
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1|This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
|
|
repeatsallele
|
|
|
halting
|
|
|
shrna
|
|
|
vegfatgfbeta1
|
|
|
therapeuthic
|
|
|
unelongated
|
|
|
ngd
|
|
|
sh3binding
|
|
|
higherlevel
|
|
|
nfkappabactivating
|
|
|
ngb
|
neuroglobin|This gene encodes an oxygen-binding protein that is distantly related to members of the globin gene family. It is highly conserved among other vertebrates. It is expressed in the central and peripheral nervous system where it may be involved in increasing oxygen availability and providing protection under hypoxic/ischemic conditions. [provided by RefSeq, Jul 2008]
|
|
ngl
|
|
|
nitrous
|
|
|
ngt
|
|
|
trainability
|
|
|
lbds
|
|
|
denervation
|
|
|
abcb5positive
|
|
|
gabrb1
|
gamma-aminobutyric acid (GABA) A receptor, beta 1|The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
|
|
gabrb2
|
gamma-aminobutyric acid (GABA) A receptor, beta 2|The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]
|
|
gabrb3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3|This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
|
|
thyrotropinomas
|
|
|
gctb
|
|
|
cystadenomas
|
|
|
chemokinedependent
|
|
|
y491492
|
|
|
maritima
|
|
|
i105v
|
|
|
hba1
|
|
|
subfraction
|
|
|
cholinemetabolizing
|
|
|
calbindin
|
|
|
htra2beta1
|
|
|
percutanous
|
|
|
years
|
|
|
africanbrazilian
|
|
|
cbpcsk
|
|
|
tobacco
|
|
|
antirepressor
|
|
|
nurr1dependent
|
|
|
spleenstomach
|
|
|
mark2par1
|
|
|
substrateattached
|
|
|
unrecognised
|
|
|
ng2
|
|
|
nephrosis
|
|
|
sugarsweetened
|
|
|
t59q33q22positive
|
|
|
foxomediated
|
|
|
hpc2elac2
|
|
|
factorcoagulation
|
|
|
canine
|
|
|
egfrstat3
|
|
|
promoterproximal
|
|
|
irx4
|
iroquois homeobox 4|
|
|
ribosomeassociated
|
|
|
irx1
|
iroquois homeobox 1|This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011]
|
|
cscscics
|
|
|
hiv2siv
|
|
|
irx2
|
iroquois homeobox 2|IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]
|
|
tyrp
|
|
|
tgycc15
|
|
|
phospholipase
|
|
|
sranklopg
|
|
|
hacats
|
|
|
decressed
|
|
|
occludens1
|
|
|
quartiles
|
|
|
bestcharacterized
|
|
|
trf2dna
|
|
|
mainly
|
|
|
ken
|
|
|
noncaucasian
|
|
|
irs1ps636
|
|
|
cox2dependent
|
|
|
glyceraldehyde3phosphate
|
|
|
responsesand
|
|
|
eccrine
|
|
|
indiscriminate
|
|
|
betasheet
|
|
|
rassf1amst1foxo3
|
|
|
anpep
|
alanyl (membrane) aminopeptidase|Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]
|
|
key
|
|
|
interfers
|
|
|
typeindependent
|
|
|
kep
|
|
|
alpha112
|
|
|
tyr1
|
|
|
boneerosive
|
|
|
donepezil
|
Donepezil is a centrally acting reversible acetyl cholinesterase inhibitor. Its main therapeutic use is in the treatment of Alzheimer's disease where it is used to increase cortical acetylcholine.
|
|
immunophenoytpe
|
|
|
beta1ibeta5i
|
|
|
strains
|
|
|
refraction
|
|
|
hacat
|
|
|
dsrct
|
|
|
rs924080
|
|
|
eralphaplcgammapkc
|
|
|
cutanea
|
|
|
higherorder
|
|
|
agematched
|
|
|
anagen
|
The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair.
|
|
bccip
|
BRCA2 and CDKN1A interacting protein|This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
|
|
zd4054
|
|
|
cyp17a
|
|
|
satiation
|
|
|
enterocolitis
|
An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).
|
|
adss
|
adenylosuccinate synthase|This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]
|
|
acantholytic
|
|
|
aanatasmtmelatonin
|
|
|
trim40
|
tripartite motif containing 40|This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
|
|
pcnafen1dna
|
|
|
ifnalphabetar
|
|
|
hamartomatous
|
|
|
anesthetised
|
|
|
oip106
|
|
|
cent
|
|
|
immense
|
|
|
gsiitrail
|
|
|
ser649
|
|
|
ser646
|
|
|
ser647
|
|
|
fatylation
|
|
|
controlled
|
The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another.|A control role is borne by a material in a process in which results obtained from an experimental sample and a control sample are compared.
|
|
retrospective
|
|
|
pge2ep4
|
|
|
replenishment
|
|
|
pge2ep1
|
|
|
multipotent
|
|
|
tumorproduced
|
|
|
controller
|
|
|
luca15
|
|
|
abortions
|
|
|
conotruncal
|
|
|
granulomatous
|
|
|
ethnicracial
|
|
|
nonsclerotic
|
|
|
deltanp63alphairf6
|
|
|
e148q
|
|
|
chemokinecontrolled
|
|
|
hsamir12075p
|
|
|
cen7
|
|
|
slicerdeficient
|
|
|
cyp1a2g3860
|
|
|
dynamism
|
|
|
cpapinteracting
|
|
|
lipoproteindependent
|
|
|
crohns
|
|
|
sphk2
|
sphingosine kinase 2|This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
|
|
sphk1
|
sphingosine kinase 1|The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
|
|
examines
|
|
|
sin3ahdac1
|
|
|
aip4arrestin2
|
|
|
wiwth
|
|
|
ojicree
|
|
|
surface
|
|
|
threonines
|
|
|
multiallele
|
|
|
cd28stimulated
|
|
|
substratedriven
|
|
|
daglalpha
|
|
|
s100a8a9promoted
|
|
|
rif1
|
replication timing regulatory factor 1|This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
|
|
pkacreb
|
|
|
hcmcausing
|
|
|
malays
|
|
|
autism
|
A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)|An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old.
|
|
northwest
|
|
|
http
|
|
|
tnfalpha308atgfbeta1
|
|
|
dhcr7
|
7-dehydrocholesterol reductase|This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
|
|
discoideum
|
|
|
unliganded
|
|
|
cyclooxygenase2prostaglandin
|
|
|
mzl
|
|
|
httn
|
|
|
mir548d3p
|
|
|
hbas
|
|
|
pdgfraidh1
|
|
|
pi35p2
|
|
|
betapdgfr
|
|
|
apociiicontaining
|
|
|
hyperammonaemia
|
|
|
hbat
|
|
|
nkp80
|
|
|
coronaries
|
|
|
mucoepidermoid
|
|
|
gata4sf1
|
|
|
interconvert
|
|
|
rs1829
|
|
|
map3k6
|
mitogen-activated protein kinase kinase kinase 6|This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
|
|
collectin
|
|
|
discord
|
|
|
increasingly
|
|
|
birc531cc
|
|
|
activatable
|
|
|
distant
|
|
|
kai1
|
|
|
pcbp2aip4
|
|
|
recapitulated
|
|
|
adora2a
|
adenosine A2a receptor|This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
|
|
adora2b
|
adenosine A2b receptor|This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
|
|
fasttrack
|
|
|
etarbetaarr1
|
|
|
ncadherinbetacatenin
|
|
|
recapitulates
|
|
|
diabetesmetaanalysis
|
|
|
igf1rmtor
|
|
|
butadine
|
|
|
c228t
|
|
|
corepressing
|
|
|
ile38
|
|
|
brafkras
|
|
|
disappearance
|
|
|
noninflamed
|
|
|
ile31
|
|
|
rhoassociated
|
|
|
ho1mediated
|
|
|
autosomic
|
|
|
propeller
|
|
|
intersection
|
|
|
gln64arg
|
|
|
brf1
|
BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit|This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]
|
|
osteoarticular
|
|
|
chondroprotective
|
|
|
deglycosylated
|
|
|
disallows
|
|
|
bmnsclc
|
|
|
cxcl8induced
|
|
|
agspecific
|
|
|
gammatubulin
|
|
|
k666m
|
|
|
cdc42hs
|
|
|
postswitch
|
|
|
h179ymutant
|
|
|
factorbeta1induced
|
|
|
l428
|
|
|
foldingchip
|
|
|
npss
|
|
|
highconfident
|
|
|
moderates
|
|
|
lxrs
|
|
|
hucbmscderived
|
|
|
demonstrates
|
|
|
assciated
|
|
|
cfhdo
|
|
|
lxre
|
|
|
moderated
|
|
|
inflammation
|
The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
|
|
lxra
|
|
|
receptorbetaarrestin1
|
|
|
demonstrated
|
|
|
limitations
|
|
|
betatrcpdriven
|
|
|
t869c
|
|
|
crm1mediated
|
|
|
her2mutated
|
|
|
repressory
|
|
|
repressors
|
|
|
bscl2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)|This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
|
|
fbxw5driven
|
|
|
retrogene
|
|
|
anchorage
|
|
|
rcftr
|
|
|
lrp5high
|
|
|
singlesnp
|
|
|
mlpa
|
|
|
adsc
|
|
|
anacardic
|
|
|
irf37
|
|
|
mlph
|
melanophilin|This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
|
|
osteonecrosis
|
Death of a bone or part of a bone, either atraumatic or posttraumatic.
|
|
disomy
|
|
|
cocoa
|
|
|
mlklmediated
|
|
|
galnac
|
|
|
csccs
|
|
|
expresseed
|
|
|
eif4ai
|
|
|
additional
|
|
|
imino
|
|
|
footandmouth
|
|
|
v654a
|
|
|
hemopoietic
|
|
|
imine
|
|
|
runx2i
|
|
|
agxtproiileu
|
|
|
runx2m
|
|
|
p85alphapi3k
|
|
|
desensitize
|
|
|
marijuanarelated
|
|
|
sequelae
|
|
|
il20tg
|
|
|
nf1smad4
|
|
|
pepsinogenpepsin
|
|
|
rotamase
|
|
|
gaip
|
|
|
centriolar
|
|
|
pkcp38nfkappab
|
|
|
gain
|
|
|
highest
|
|
|
strabismus
|
|
|
itim
|
|
|
sabeta
|
|
|
lrh1
|
|
|
hausp
|
|
|
il1alphapositive
|
|
|
prohepcidin
|
|
|
bowenoid
|
|
|
dedd2
|
death effector domain containing 2|This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
|
|
bmpsmad4
|
|
|
cul3spop
|
|
|
noncomplement
|
|
|
p53stimulated
|
|
|
dkn2ap16
|
|
|
vasoconstrictors
|
|
|
prommp13
|
|
|
idh12
|
|
|
exogenous
|
|
|
adpribosylated
|
|
|
multimodal
|
|
|
beats
|
|
|
antinatriuresis
|
|
|
sps1encoded
|
|
|
honduran
|
|
|
education
|
|
|
condensates
|
|
|
sccdysplasia
|
|
|
spamrna
|
|
|
aciddifferentiated
|
|
|
ingredients
|
|
|
cep57
|
centrosomal protein 57kDa|This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
|
|
cep55
|
centrosomal protein 55kDa|
|
|
e160
|
|
|
tyms
|
thymidylate synthetase|Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using 5,10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occuring antisense transcript rTSalpha (GeneID:55556) vary inversely when cell-growth progresses from late-log to plateau phase. [provided by RefSeq, Jul 2008]
|
|
pc56a
|
|
|
rafmekerkets1
|
|
|
alphahemoglobinstabilizing
|
|
|
lys144
|
|
|
dapk3
|
death-associated protein kinase 3|Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]
|
|
dapk2
|
death-associated protein kinase 2|This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]
|
|
dapk1
|
death-associated protein kinase 1|Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
|
|
macrophagesmonocytes
|
|
|
endosteal
|
|
|
egfregfrviii
|
|
|
prkar2a
|
protein kinase, cAMP-dependent, regulatory, type II, alpha|cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]
|
|
eca1099706
|
|
|
r479
|
|
|
dbarelated
|
|
|
ps341induced
|
|
|
tdif1
|
|
|
methinduced
|
|
|
genethe
|
|
|
implpying
|
|
|
shunt
|
|
|
lpstriggered
|
|
|
angiopathies
|
|
|
ctslmediated
|
|
|
indirectly
|
|
|
dcsignhighcd86low
|
|
|
ivs251ga
|
|
|
hrginduced
|
|
|
presbycusis
|
|
|
mrp14
|
|
|
serineargininerich
|
|
|
nonaffected
|
|
|
htpaplwdr11fgfr2
|
|
|
cybrd1
|
cytochrome b reductase 1|This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]
|
|
sichuan
|
|
|
nottingham
|
|
|
epha10
|
EPH receptor A10|Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008]
|
|
consists
|
|
|
subpial
|
|
|
lactocillus
|
|
|
lysosomerelated
|
|
|
aua
|
|
|
paroxysmal
|
|
|
isometric
|
|
|
t177
|
|
|
aud
|
|
|
aug
|
|
|
asp299gly
|
|
|
znf580
|
zinc finger protein 580|
|
|
aur
|
|
|
swap
|
|
|
allassociated
|
|
|
recycle
|
|
|
bulkier
|
|
|
sway
|
|
|
collaborate
|
|
|
ppargammasmad
|
|
|
postinfectionbased
|
|
|
pmlraralphaexpressing
|
|
|
mir2213p
|
|
|
hormoneii
|
|
|
nalp1
|
|
|
nalp2
|
|
|
nalp3
|
|
|
mpk1
|
|
|
epobresistant
|
|
|
rs2292832cc
|
|
|
unrelated
|
|
|
pointmutations
|
|
|
enhance
|
|
|
markov
|
|
|
fadsgenecluster
|
|
|
centroacinar
|
|
|
axiiaxiir
|
|
|
galanin120
|
|
|
dux4fl
|
|
|
activityloss
|
|
|
learningrelated
|
|
|
me1
|
malic enzyme 1, NADP(+)-dependent, cytosolic|This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]
|
|
tangential
|
|
|
me2
|
malic enzyme 2, NAD(+)-dependent, mitochondrial|This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]
|
|
leucinerich
|
|
|
gcsfinduced
|
|
|
mtmr12
|
myotubularin related protein 12|Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
|
|
chaetocin
|
|
|
pex19derived
|
|
|
znf326
|
zinc finger protein 326|
|
|
rnps1
|
RNA binding protein S1, serine-rich domain|This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
|
|
bnip
|
|
|
striations
|
|
|
proprp
|
|
|
propro
|
|
|
coeluted
|
|
|
eculizumab
|
|
|
nonbleeding
|
|
|
xonfat5
|
|
|
scaffoldmatrix
|
|
|
metenkephalin
|
|
|
trimethylene
|
|
|
arfmdm2p53
|
|
|
spondyloepiphyseal
|
|
|
mec
|
|
|
presynaptic
|
|
|
kgf2
|
|
|
hice1
|
|
|
meh
|
|
|
autophagyinducing
|
|
|
daz4
|
deleted in azoospermia 4|This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011]
|
|
met
|
MET proto-oncogene, receptor tyrosine kinase|The proto-oncogene MET product is the hepatocyte growth factor receptor and encodes tyrosine-kinase activity. The primary single chain precursor protein is post-translationally cleaved to produce the alpha and beta subunits, which are disulfide linked to form the mature receptor. Various mutations in the MET gene are associated with papillary renal carcinoma. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
mes
|
|
|
mer
|
|
|
sm7368
|
|
|
lpgdsproduced
|
|
|
multipleinfarct
|
|
|
rabring7
|
|
|
gnrhgnrhr
|
|
|
invadopodiamediated
|
|
|
ptenphlpp2
|
|
|
dnaunwinding
|
The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating a region of unpaired single strands.
|
|
denominator
|
|
|
ul42
|
|
|
bovismediated
|
|
|
ul44
|
|
|
ncih69
|
Human Caucasian lung small cell carcinoma cell line.
|
|
antiinvasive
|
|
|
hif1alphabfgf
|
|
|
ifnalphatreated
|
|
|
gdpmannose
|
|
|
slices
|
|
|
reviewrole
|
|
|
objectively
|
|
|
subgenomic
|
|
|
immunoproteasome
|
|
|
brduinduced
|
|
|
s28
|
|
|
mrp2pro1158
|
|
|
betamshmc4r
|
|
|
egfrviii
|
|
|
cryptochidism
|
|
|
pi3kirf3
|
|
|
repp86
|
|
|
radiationrelated
|
|
|
mir155mediated
|
|
|
ivs3
|
|
|
nomoxia
|
|
|
prediabetics
|
|
|
onecut2
|
one cut homeobox 2|This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008]
|
|
onecut1
|
one cut homeobox 1|This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
|
|
under
|
|
|
ivs5
|
|
|
smrtmay
|
|
|
biotin
|
An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins.
|
|
lrfn4
|
leucine rich repeat and fibronectin type III domain containing 4|
|
|
pnoc
|
prepronociceptin|
|
|
ivs7
|
|
|
cxcr4galpha13rho
|
|
|
c1qc3d
|
|
|
room
|
|
|
elementregulating
|
|
|
copurifies
|
|
|
h6pd
|
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)|There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]
|
|
factoralfa
|
|
|
exceptions
|
|
|
copurified
|
|
|
root
|
The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves.
|
|
nulp1
|
|
|
cyclaseprotein
|
|
|
ecyclin
|
|
|
use1
|
unconventional SNARE in the ER 1 homolog (S. cerevisiae)|
|
|
ironascorbate
|
|
|
rad3related
|
|
|
egfrt790m
|
|
|
ems1
|
|
|
berardinelliseip
|
|
|
nonbrca12associated
|
|
|
resveratrols
|
|
|
ebvspecific
|
|
|
elicited
|
|
|
colonic
|
|
|
aps1
|
|
|
colonogenic
|
|
|
phox2
|
|
|
populationthe
|
|
|
trecs
|
|
|
cd14tlr
|
|
|
chondrocarcoma
|
|
|
granulosalutein
|
|
|
alpha2badrenergic
|
|
|
vicious
|
|
|
viinteracting
|
|
|
sicklerelated
|
|
|
chtf18
|
CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)|CHTF18, CHTF8 (MIM 613202), and DCC1 (DSCC1; MIM 613203) are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]
|
|
subventricular
|
|
|
cdc20mediated
|
|
|
disassembly
|
|
|
synchrony
|
|
|
rsk2
|
|
|
nh2terminal
|
|
|
rsk3
|
|
|
third
|
|
|
trpc3trpc6
|
|
|
jakfesphospholipase
|
|
|
neglect
|
|
|
hsp27
|
|
|
hsp25
|
|
|
hsp22
|
|
|
ocbap
|
|
|
hsp20
|
|
|
pcrsequencing
|
|
|
gpsm1
|
G-protein signaling modulator 1|G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
|
|
glycols
|
|
|
determinate
|
|
|
efg2
|
|
|
s270p
|
|
|
synapsins
|
|
|
inconclusive
|
|
|
endjoiningmediated
|
|
|
runx3mediated
|
|
|
nodulosis
|
|
|
vegfr2pak1
|
|
|
mvb12b
|
multivesicular body subunit 12B|The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
|
eya4
|
EYA transcriptional coactivator and phosphatase 4|This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
|
|
budding
|
A form of asexual reproduction, occurring in certain bacteria and fungi (e.g. yeasts) and some primitive animals in which an individual arises from a daughter cell formed by pinching off a part of the parent cell. The budlike outgrowths so formed may sometimes remain attached to the parent cell.
|
|
mvb12a
|
multivesicular body subunit 12A|
|
|
eya1
|
EYA transcriptional coactivator and phosphatase 1|This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
|
|
eya3
|
EYA transcriptional coactivator and phosphatase 3|This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
|
ccl18ccl3ccl4
|
|
|
sibutramine
|
|
|
incireased
|
|
|
iibiiia
|
|
|
crep
|
|
|
cres
|
|
|
cret
|
|
|
clinicobiological
|
|
|
e1alpha
|
|
|
crel
|
|
|
cobinds
|
|
|
hepatpcellular
|
|
|
nschl
|
|
|
creb
|
|
|
drops
|
|
|
vamp8endobrevin
|
|
|
confidently
|
|
|
creg
|
|
|
mir1291
|
microRNA 1291|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
decompensated
|
|
|
mir1292
|
microRNA 1292|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
combination
|
|
|
hoxc11
|
homeobox C11|This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
|
modification
|
|
|
hoxc13
|
homeobox C13|This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]
|
|
iiga
|
|
|
rac1dependent
|
|
|
col2a1
|
collagen, type II, alpha 1|This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
|
|
nonfunction
|
|
|
onethird
|
|
|
glutaminedependent
|
|
|
scfv
|
|
|
scfs
|
|
|
rnf5mediated
|
|
|
endotoxinstimulated
|
|
|
p53dissociator
|
|
|
extraabdominal
|
|
|
mir200cznf217tgfbetazeb1
|
|
|
scfa
|
|
|
ptprt
|
protein tyrosine phosphatase, receptor type, T|The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
|
|
atdc
|
|
|
hydatidiform
|
|
|
aidl
|
|
|
apolipoprotein
|
|
|
b5rm
|
|
|
ptprz
|
|
|
spec2pdzgef2acylcoa
|
|
|
atdh
|
|
|
ptprg
|
protein tyrosine phosphatase, receptor type, G|The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008]
|
|
myo18a
|
myosin XVIIIA|
|
|
ptpre
|
protein tyrosine phosphatase, receptor type, E|The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Two alternatively spliced transcript variants of this gene have been reported, one of which encodes a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; Another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokines induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Jul 2008]
|
|
ptprd
|
protein tyrosine phosphatase, receptor type, D|The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]
|
|
hladrcd18
|
|
|
ptpra
|
protein tyrosine phosphatase, receptor type, A|The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
|
|
ptpro
|
protein tyrosine phosphatase, receptor type, O|This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]
|
|
aids
|
A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.|An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.|A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. -- 2004|Acquired immunodeficiency syndrome is a HIV infection consisting of a disease of the human immune system that is characterized cytologically especially by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.|An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.|A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.|A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
|
|
brr2
|
|
|
ptprj
|
protein tyrosine phosphatase, receptor type, J|The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
reticulummediated
|
|
|
unbound
|
|
|
realtime
|
|
|
znf280d
|
zinc finger protein 280D|
|
|
znf280b
|
zinc finger protein 280B|The protein encoded by this gene is a transcription factor that upregulates expression of MDM2, which negatively regulates p53 expression. This gene is highly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in growth of the cancer cells. Several transcript variants have been found for this gene, but only one of them is protein-coding. [provided by RefSeq, Jan 2015]
|
|
isreco1
|
|
|
sanguinarine
|
A benzophenanthridine alkaloid that has formula C20H14NO4.
|
|
calcite
|
|
|
flt1vegfr1
|
|
|
c17391740insalu
|
|
|
kringles
|
|
|
chemr23
|
|
|
fotc
|
|
|
telomeredependent
|
|
|
hoodia
|
|
|
chromosomal
|
|
|
leukemialymphomarelated
|
|
|
clfb
|
|
|
ecmderived
|
|
|
lineagedependent
|
|
|
nonparenchymal
|
|
|
spinduced
|
|
|
betacat
|
|
|
ceramides
|
|
|
ednra
|
endothelin receptor type A|This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
|
|
ednrb
|
endothelin receptor type B|The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
|
|
lactosyl
|
|
|
typedependent
|
|
|
cd11acd11c
|
|
|
vrel
|
|
|
agrp
|
agouti related neuropeptide|This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009]
|
|
srcptk
|
|
|
stx11
|
syntaxin 11|This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]
|
|
lettuce
|
|
|
stx12
|
syntaxin 12|
|
|
stx16
|
syntaxin 16|This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]
|
|
dipssplus
|
|
|
l113q
|
|
|
tumorgrading
|
|
|
mdm2nore1
|
|
|
mef2ddazap1
|
|
|
cytokinereceptor
|
|
|
cys42
|
|
|
cys43
|
|
|
cys40
|
|
|
stx1b
|
syntaxin 1B|The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]
|
|
cys46
|
|
|
cys47
|
|
|
cys45
|
|
|
lsa30
|
|
|
nbdlabeled
|
|
|
agr2
|
anterior gradient 2|
|
|
aluyb8
|
|
|
hes5gfp
|
|
|
cheilitis
|
A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.
|
|
adamts13mediated
|
|
|
slamf7
|
SLAM family member 7|
|
|
slamf6
|
SLAM family member 6|The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
|
|
slamf3
|
|
|
slamf1
|
signaling lymphocytic activation molecule family member 1|
|
|
begins
|
|
|
nodosum
|
|
|
homogenized
|
|
|
rac1associated
|
|
|
lbh589
|
|
|
photoreceptor
|
A specialized cell type in a multicellular organism that is sensitive to light. This definition excludes single-celled organisms, but includes non-eye receptors, such as snake infra-red detectors or photosensitive pineal gland cells.
|
|
vrk3
|
vaccinia related kinase 3|This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
|
|
reinduce
|
|
|
exchangeable
|
|
|
biochemical
|
|
|
ser2481
|
|
|
lepre1
|
|
|
coassembly
|
|
|
threeinone
|
|
|
uncharacterised
|
|
|
fura2
|
|
|
humansreview
|
|
|
growthrestricted
|
|
|
mmp21306ct
|
|
|
il13producing
|
|
|
ptenprotein
|
|
|
apoeldlr
|
|
|
e467k
|
|
|
t821q22q22
|
|
|
epcspecific
|
|
|
cdx1bcl2lc3
|
|
|
zac1
|
|
|
pseudohypoparathyroidism
|
OMIM mapping confirmed by DO. [SN].
|
|
raf1mek1
|
|
|
apatite
|
|
|
activatorbinding
|
|
|
chemoprotective
|
|
|
marie
|
|
|
torsional
|
|
|
s1pext
|
|
|
zealand
|
|
|
bromodeoxyuridine
|
|
|
bloodbased
|
|
|
cyp46a1
|
|
|
asf1h3h4mcm27
|
|
|
adlte
|
|
|
acthdependent
|
|
|
competitors
|
|
|
hdac1depedent
|
|
|
magec2ct10
|
|
|
cd59containing
|
|
|
constrict
|
|
|
vo2max
|
Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness
|
|
micastr
|
|
|
psurvivin
|
|
|
factorreceptor
|
|
|
nts1r
|
|
|
pi3kpdk1
|
|
|
dependences
|
|
|
mineralized
|
|
|
implying
|
|
|
t863a857
|
|
|
adenosyltransferase
|
|
|
nterminalextended
|
|
|
traf23
|
|
|
cul4a
|
cullin 4A|CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009]
|
|
hypoxiahsp90alpha
|
|
|
dampening
|
|
|
astrocytespecific
|
|
|
traf25
|
|
|
s100a89
|
|
|
brookespiegler
|
|
|
sfrs13a
|
|
|
phev13
|
|
|
smacdiablogfp
|
|
|
rs2296308
|
|
|
hiv1derived
|
|
|
dystroglycan
|
|
|
metallothionein
|
|
|
sox17mediated
|
|
|
gcenriched
|
|
|
e6positive
|
|
|
caffeinecoffee
|
|
|
d2d3
|
|
|
rrm12
|
|
|
reselected
|
|
|
susceptive
|
|
|
facilitatory
|
|
|
herg1
|
|
|
facilitators
|
|
|
herg3
|
|
|
rs187084
|
|
|
traversed
|
|
|
znf342
|
|
|
hypercholanemia
|
|
|
liarozole
|
|
|
hypochloraemic
|
|
|
resveratrol
|
|
|
periodontium
|
The tissues that invest or help to invest and support the teeth, including the periodontal ligament, gingivae, cementum, and alveolar and supporting bone.
|
|
retinoblastomamediated
|
|
|
cytosensor
|
|
|
testing
|
|
|
phastimulated
|
|
|
gainoffunction
|
|
|
apoa4
|
apolipoprotein A-IV|Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]
|
|
apoa5
|
apolipoprotein A-V|The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
|
|
flj10540foxm1mmp2
|
|
|
apoa1
|
apolipoprotein A-I|This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. [provided by RefSeq, Jul 2008]
|
|
apoa2
|
apolipoprotein A-II|This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]
|
|
tanshinones
|
|
|
rpt6
|
|
|
microvillus
|
Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.
|
|
caspase810
|
|
|
autophagystimulatory
|
|
|
lef1tcf
|
|
|
glycosylations
|
|
|
stxbp5l
|
syntaxin binding protein 5-like|
|
|
septohippocampal
|
|
|
apoal
|
|
|
apoai
|
|
|
ome
|
|
|
regurgitant
|
|
|
omi
|
|
|
p0005in
|
|
|
merlinnull
|
|
|
omm
|
|
|
caspase3like
|
|
|
omp
|
olfactory marker protein|Olfactory marker protein is uniquely associated with the mature olfactory receptor neurons in many vertebrate species from fish to man. The OMP gene structure and protein sequence are highly conserved between mouse, rat and human. Results of the mouse knockout studies show that OMP-null mice are compromised in their ability to respond to odor stimuli, and that OMP represents a novel modulatory component of the odor detection/signal transduction cascade. [provided by RefSeq, Jul 2008]
|
|
lentivirusdelivered
|
|
|
metazoanspecific
|
|
|
apoav
|
|
|
pirh2
|
|
|
col17a1
|
collagen, type XVII, alpha 1|This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
|
|
rptp
|
|
|
resistant
|
|
|
deregulation
|
|
|
mdm2hdm2
|
|
|
glycocalyx
|
A viscous, carbohydrate rich layer at the outermost periphery of a cell.
|
|
polyqexpanded
|
|
|
thp1
|
|
|
proactive
|
|
|
resistane
|
|
|
iialpha
|
|
|
kctd3
|
potassium channel tetramerization domain containing 3|
|
|
momordica
|
|
|
nospecialtype
|
|
|
monad
|
|
|
kctd1
|
potassium channel tetramerization domain containing 1|
|
|
pp2amediated
|
|
|
tumourspecific
|
|
|
grm8
|
glutamate receptor, metabotropic 8|L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
|
|
rnarna
|
|
|
grm5
|
glutamate receptor, metabotropic 5|This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
|
|
grm6
|
glutamate receptor, metabotropic 6|L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Feb 2012]
|
|
grm7
|
glutamate receptor, metabotropic 7|L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
|
|
hapln1
|
hyaluronan and proteoglycan link protein 1|
|
|
grm1
|
glutamate receptor, metabotropic 1|This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
|
|
grm2
|
glutamate receptor, metabotropic 2|L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
grm3
|
glutamate receptor, metabotropic 3|L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008]
|
|
alpha5iv
|
|
|
lap1b
|
|
|
puts
|
|
|
nfatc2nuclear
|
|
|
lymphomagenesis
|
|
|
p48emlp
|
|
|
lobular
|
|
|
mtoractivating
|
|
|
entered
|
|
|
ile655val
|
|
|
interferonsensitive
|
|
|
racemization
|
|
|
rubinsteintaybi
|
|
|
bcl2triggered
|
|
|
rs3811699
|
|
|
tertbutylhydroperoxide
|
|
|
rther
|
|
|
mbrprotein
|
|
|
apoptosisassociated
|
|
|
cbls
|
|
|
ask1
|
|
|
ask2
|
|
|
spontaneously
|
|
|
acidmodified
|
|
|
egfrdependent
|
|
|
glucocorticoidresistant
|
|
|
a2mg
|
|
|
demethylation
|
The process of removing one or more methyl groups from a molecule.
|
|
checkpointches1
|
|
|
meiotically
|
|
|
hyperpermeability
|
|
|
c260
|
|
|
mitoneet
|
|
|
streptococcal
|
|
|
val108tyr120
|
|
|
ankyloblepharon
|
Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
|
|
uninterrupted
|
|
|
cant
|
|
|
mek1erk1
|
|
|
ell2
|
elongation factor, RNA polymerase II, 2|
|
|
ccctc
|
|
|
lmp2a
|
|
|
canx
|
calnexin|This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
|
|
g1730a
|
|
|
specialization
|
|
|
cxgxc
|
|
|
cdc37containing
|
|
|
y141h
|
|
|
mtnr1b
|
melatonin receptor 1B|This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]
|
|
colonies
|
|
|
mtnr1a
|
melatonin receptor 1A|This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq, Jul 2008]
|
|
characterise
|
|
|
mir592
|
microRNA 592|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
mir593
|
microRNA 593|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
evolve
|
|
|
cotransport
|
|
|
pser10p27
|
|
|
verapamil
|
A racemate comprising equimolar amounts of dexverapamil and (S)-verapamil. An L-type calcium channel blocker of the phenylalkylamine class, it is used (particularly as the hydrochloride salt) in the treatment of hypertension, angina pectoris and cardiac arrhythmia, and as a preventive medication for migraine.
|
|
mdlp1
|
|
|
multiallelic
|
|
|
osteopathies
|
|
|
ells
|
|
|
nrg1erbb3
|
|
|
caspase37mediated
|
|
|
ier3
|
immediate early response 3|This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq, Jul 2008]
|
|
componenthydrophobic
|
|
|
tardbp
|
TAR DNA binding protein|HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
|
|
tyr302
|
|
|
tyr301
|
|
|
betaarrestins1
|
|
|
programs
|
|
|
failing
|
|
|
cyp4502e1
|
|
|
ska3
|
spindle and kinetochore associated complex subunit 3|This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
|
|
pkd1crebbcl2
|
|
|
microrna340mediated
|
|
|
periinfarct
|
|
|
distension
|
|
|
hepatosteatosis
|
|
|
pericentringammatubulin
|
|
|
spermatic
|
|
|
spermatid
|
One of the haploid cells that are formed by division of the secondary spermatocytes and that differentiate into spermatozoa.
|
|
zol
|
|
|
collagendegrading
|
|
|
assigned
|
|
|
interchromatin
|
|
|
il13r110q
|
|
|
galactoside
|
|
|
tbl1xr1
|
transducin (beta)-like 1 X-linked receptor 1|The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. [provided by RefSeq, Jul 2008]
|
|
strms
|
|
|
whimmutant
|
|
|
gzmainduced
|
|
|
fibrinopeptide
|
|
|
anril
|
|
|
highfrequent
|
|
|
kinduced
|
|
|
cd38s
|
|
|
acceptors
|
|
|
iotansr
|
|
|
procaspase1mediated
|
|
|
phi1
|
|
|
involuntary
|
|
|
minsclgn
|
|
|
arl1arfaptin2
|
|
|
ttubular
|
|
|
kinaseerk
|
|
|
orthodontic
|
|
|
cytokineindependent
|
|
|
ago4
|
argonaute RISC catalytic component 4|This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic containing PAZ and PIWI domains, and it may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and eukaryotic translation initiation factor 2C, 1. [provided by RefSeq, Jul 2008]
|
|
strap
|
serine/threonine kinase receptor associated protein|
|
|
ago1
|
argonaute RISC catalytic component 1|This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and argonaute 4. [provided by RefSeq, Jul 2008]
|
|
ago3
|
argonaute RISC catalytic component 3|This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
|
ago2
|
argonaute RISC catalytic component 2|This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
|
|
fluctuant
|
|
|
dominantnegatively
|
|
|
mthfr
|
methylenetetrahydrofolate reductase (NAD(P)H)|The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
|
|
nude
|
|
|
nudc
|
nudC nuclear distribution protein|This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2. [provided by RefSeq, Feb 2012]
|
|
ul125
|
|
|
mcf2
|
MCF.2 cell line derived transforming sequence|The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010]
|
|
p6gag
|
|
|
acceptor1
|
|
|
mthfd
|
|
|
k63polyubiquitination
|
|
|
hantihistamine
|
|
|
deal
|
|
|
gfls
|
|
|
dip2a
|
DIP2 disco-interacting protein 2 homolog A (Drosophila)|The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
|
|
nearphysiological
|
|
|
deaf
|
|
|
dead
|
|
|
histopathologic
|
|
|
mip18
|
|
|
ewsetsmediated
|
|
|
chagase
|
|
|
macroh2a1
|
|
|
macroh2a2
|
|
|
tap73mediated
|
|
|
epitestosterone
|
An androstanoid that is the C-17 epimer of testosterone.
|
|
caldaggefi
|
|
|
mig6egfr
|
|
|
hnrpa2b1cbx3
|
|
|
trabecularmeshwork
|
A porelike structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates to the canal of Schlemm. (MeSH)
|
|
alpinists
|
|
|
predicting
|
|
|
homeodomaininteracting
|
|
|
sphingomyelinase2
|
|
|
heparin
|
A highly sulfated linear glycosaminoglycan comprising complex patterns of uronic acid-(1->4)-D-glucosamine repeating subunits. Used as an injectable anticoagulant, it has the highest negative charge density of any known biological molecule.
|
|
chilean
|
|
|
brainneuron
|
|
|
vps26a
|
vacuolar protein sorting 26 homolog A (S. pombe)|This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
|
asperger
|
|
|
ocgroups
|
|
|
bubr1dependent
|
|
|
inhibitis
|
|
|
cart1
|
|
|
words
|
|
|
afternoon
|
|
|
sidsassociated
|
|
|
antibodybinding
|
|
|
mip1a
|
|
|
mip1b
|
|
|
hospital
|
|
|
automatically
|
|
|
u12dependent
|
|
|
genotye
|
|
|
vegfa164
|
|
|
vegfa165
|
|
|
bcar3p130cas
|
|
|
geneexpression
|
The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Some protein processing events may be included when they are required to form an active form of a product from an inactive precursor form.
|
|
asct2
|
|
|
asct1
|
|
|
bche
|
butyrylcholinesterase|Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008]
|
|
pak4
|
p21 protein (Cdc42/Rac)-activated kinase 4|PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
adenosineproducing
|
|
|
pak6
|
p21 protein (Cdc42/Rac)-activated kinase 6|This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
|
|
pak7
|
p21 protein (Cdc42/Rac)-activated kinase 7|The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
|
|
doxorubicinemediated
|
|
|
pak1
|
p21 protein (Cdc42/Rac)-activated kinase 1|This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
|
|
pak2
|
p21 protein (Cdc42/Rac)-activated kinase 2|The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]
|
|
pak3
|
p21 protein (Cdc42/Rac)-activated kinase 3|PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, serve as targets for the small GTP binding proteins Cdc42 and RAC and have been implicated in a wide range of biological activities. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then catalyzes a variety of targets. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of non-syndromic mental retardation X-linked type 30 (MRX30), also called X-linked mental retardation type 47 (MRX47). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
|
egfrresistance
|
|
|
creb3mediated
|
|
|
factordependent
|
|
|
initial
|
|
|
astrocyteproduced
|
|
|
janusfaced
|
|
|
fraction
|
|
|
organophosphates
|
|
|
wtwt
|
|
|
thsi
|
|
|
dcp1dcp2
|
|
|
ang1ang2tie2
|
|
|
clinics
|
|
|
analyse
|
|
|
landing
|
|
|
ttloaded
|
|
|
chewers
|
|
|
pea15
|
phosphoprotein enriched in astrocytes 15|This gene encodes a death effector domain-containing protein that functions as a negative regulator of apoptosis. The encoded protein is an endogenous substrate for protein kinase C. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
|
|
rosifngamma
|
|
|
bengali
|
|
|
pakt
|
|
|
stat3bound
|
|
|
aegfr
|
|
|
doublestrandbreak
|
|
|
itf2b
|
|
|
paks
|
|
|
etkbmx
|
|
|
gcmaf
|
|
|
assessment
|
|
|
hslo1
|
|
|
a3101
|
|
|
upf3b
|
UPF3 regulator of nonsense transcripts homolog B (yeast)|This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
upf3a
|
UPF3 regulator of nonsense transcripts homolog A (yeast)|This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
endproductmediated
|
|
|
abro1
|
|
|
strengthening
|
|
|
germinoma
|
A cancer that is derived_from germ cells.|Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS.
|
|
thse
|
|
|
diluteconcentrated
|
|
|
mir203cjun
|
|
|
cytoskeleton
|
Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
|
|
carcinom
|
|
|
enhancer2
|
|
|
polyvalent
|
|
|
erms
|
A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)|A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. There are three histologic types, spindle cell, botryoid and anaplastic.
|
|
pcnsl
|
|
|
zo2
|
|
|
egfactivated
|
|
|
adrenomedullinadrenomedullin
|
|
|
aurich
|
|
|
opticin
|
|
|
polyuria
|
An increased rate of urine production.
|
|
mirna486
|
|
|
apaf1cytochrome
|
|
|
handicap
|
|
|
phip
|
pleckstrin homology domain interacting protein|PHIP binds the pleckstrin homology (PH) domain of insulin receptor substrate-1 (IRS1; MIM 147545), modulates insulin signaling, and plays a role in pancreatic beta cell growth and survival (Farhang-Fallah et al., 2000 [PubMed 11018022]; Podcheko et al., 2007 [PubMed 17636024]).[supplied by OMIM, Jun 2009]
|
|
thiolmediated
|
|
|
a1555g
|
|
|
slc45a3
|
|
|
slc45a2
|
|
|
ngbr
|
|
|
glycosyltransferases
|
|
|
gly389
|
|
|
ogg1326
|
|
|
fnfactivated
|
|
|
enhancers
|
|
|
anticd3
|
|
|
anticd4
|
|
|
arnshl
|
|
|
cmvheatinactivationmethods
|
|
|
restores
|
|
|
cullinassociated
|
|
|
pseudo
|
|
|
deciduous
|
|
|
primirnas371373
|
|
|
boneforming
|
|
|
hostrelated
|
|
|
restored
|
|
|
srebp1cbeta2e47
|
|
|
relieve
|
|
|
b0at2sbat1
|
|
|
interswitch
|
|
|
agebsa
|
|
|
kv43kchip2
|
|
|
egfrsrcargcortactin
|
|
|
podoplanindependent
|
|
|
magp1
|
|
|
glu78
|
|
|
myelofibrosis
|
A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue.
|
|
hijacked
|
|
|
aspd
|
|
|
bcdin3d
|
BCDIN3 domain containing|
|
|
aspl
|
|
|
aspm
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)|This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
|
|
aspn
|
|
|
inflammatorytype
|
|
|
asph
|
aspartate beta-hydroxylase|This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
|
|
xlink
|
|
|
parenchyma
|
The tissue characteristic of an organ, as distinguished from associated connective or supporting tissues.
|
|
iraqi
|
|
|
aspp
|
|
|
asps
|
|
|
trim5alphamediated
|
|
|
analogous
|
|
|
elav
|
|
|
kznf
|
|
|
folfox
|
|
|
pxrics1433zetatheta
|
|
|
donorhematopoietic
|
|
|
trpv2dependant
|
|
|
tumourderived
|
|
|
fakjip3jnk
|
|
|
lynch
|
|
|
riluzole
|
|
|
angiogenesisangiostasis
|
|
|
rac1driven
|
|
|
biceps
|
A muscle having two heads: as a: the large flexor muscle of the front of the upper arm b: the large flexor muscle of the back of the upper leg.
|
|
beta1subunitindependent
|
|
|
ccne2
|
cyclin E2|The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008]
|
|
arg389gly
|
|
|
ccne1
|
cyclin E1|The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been described. Two additional splice variants were reported but detailed nucleotide sequence information is not yet available. [provided by RefSeq, Jul 2008]
|
|
proposals
|
|
|
nociceptinorphanin
|
|
|
stiffer
|
|
|
inconsistent
|
|
|
mtck
|
|
|
rs12229892
|
|
|
neuropathologically
|
|
|
lmp1stimulated
|
|
|
cd44egfrerbb2
|
|
|
bbbcht
|
|
|
measurable
|
|
|
padi1
|
peptidyl arginine deiminase, type I|This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
|
|
measurably
|
|
|
padi3
|
peptidyl arginine deiminase, type III|This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
|
|
padi2
|
peptidyl arginine deiminase, type II|This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
|
|
intronless
|
|
|
pmbl
|
|
|
ubproteasome
|
|
|
reep1reep2
|
|
|
targets
|
|
|
dynamicdocking
|
|
|
proala
|
|
|
barph
|
|
|
octamertranscription
|
|
|
orai13
|
|
|
mexicanamericans
|
|
|
atopics
|
|
|
cgn
|
cingulin|
|
|
acylationdeacylation
|
|
|
selfreports
|
|
|
seminiferous
|
|
|
suspect
|
|
|
ifnalphariba
|
|
|
cochinchina
|
|
|
beta3adrenergic
|
|
|
aldhgoverned
|
|
|
gastrokine
|
|
|
cgb
|
chorionic gonadotropin, beta polypeptide|This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]
|
|
exclusively
|
|
|
bpositive
|
|
|
compulsisve
|
|
|
pneumosepsis
|
|
|
veiling
|
|
|
slp2ahem
|
|
|
occc
|
|
|
occa
|
|
|
ntng1
|
netrin G1|Netrin G1 (NTNG1) belongs to a conserved family of proteins that act as axon guidance cues during vertebrate nervous system development (Nakashiba et al., 2000 [PubMed 10964959]).[supplied by OMIM, Mar 2008]
|
|
box
|
|
|
boy
|
|
|
diagnoses
|
|
|
elavl2
|
ELAV like neuron-specific RNA binding protein 2|The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
|
|
tranceinduced
|
|
|
bor
|
|
|
bos
|
|
|
ptcd1
|
pentatricopeptide repeat domain 1|
|
|
spheres
|
|
|
bok
|
BCL2-related ovarian killer|The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]
|
|
diagnosed
|
|
|
bon
|
|
|
upperlower
|
|
|
boc
|
BOC cell adhesion associated, oncogene regulated|The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
|
|
subscales
|
|
|
hypoxiahif1a
|
|
|
ifnbetastimulated
|
|
|
try1
|
|
|
colit8
|
|
|
h3pthr
|
|
|
zw10
|
zw10 kinetochore protein|This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011]
|
|
try2
|
|
|
cgs
|
|
|
mirna34bc
|
|
|
transplant
|
|
|
c977cghogg1
|
|
|
sivagm3x4mc
|
|
|
hm74
|
|
|
cooperates
|
|
|
burkitts
|
|
|
tfiiealpha
|
|
|
servingday
|
|
|
cooperated
|
|
|
electrophoretic
|
|
|
c8092a
|
|
|
m5ab
|
|
|
nebulin
|
|
|
labyrinth
|
|
|
t1418ighbcl2
|
|
|
ferrous
|
|
|
goods
|
|
|
proprion
|
|
|
sema3eplexin
|
|
|
kir2dl3
|
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3|Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]
|
|
ampkmediated
|
|
|
insulindegrading
|
|
|
krt40
|
|
|
csf1receptor
|
|
|
thicknesses
|
|
|
overproduced
|
|
|
kir2dl5
|
|
|
genese
|
|
|
v192a
|
|
|
mitofusion
|
|
|
sample
|
|
|
sn2
|
|
|
sn1
|
|
|
il6responsive
|
|
|
cdassociated
|
|
|
migrationreview
|
|
|
kg1a
|
|
|
bmis
|
|
|
throid
|
|
|
nonincidental
|
|
|
ablinteractor
|
|
|
beta1subunitdependent
|
|
|
usp1regulated
|
|
|
rs6782799
|
|
|
gcbox2
|
|
|
sna
|
|
|
lzip
|
|
|
aktmtorcip70s6k
|
|
|
ssdnabinding
|
Interacting selectively and non-covalently with single-stranded DNA.
|
|
membership
|
|
|
snr
|
|
|
sns
|
|
|
snp
|
|
|
apr834
|
|
|
p12p133q23
|
|
|
waist
|
|
|
lentiginous
|
|
|
hcd46hlae
|
|
|
bmi1
|
BMI1 proto-oncogene, polycomb ring finger|
|
|
transinteracts
|
|
|
junctionassociated
|
|
|
cpeb3targeted
|
|
|
oncology
|
|
|
kcnma1kcnmb4
|
|
|
cuisaepy2
|
|
|
hydroxylamine
|
The simplest hydroxylamine, consisting of ammonia bearing a hydroxy substituent. It is an intermediate in the biological nitrification by microbes like bacteria.
|
|
arterialization
|
|
|
gfralphamediated
|
|
|
ipth
|
|
|
fatalities
|
|
|
rnf220
|
ring finger protein 220|
|
|
refolding
|
|
|
acidlysophosphatidic
|
|
|
t3111c
|
|
|
chk1cdc25a1433
|
|
|
police
|
|
|
ubiquinated
|
|
|
bacteriacontaining
|
|
|
galpha13dependent
|
|
|
fixm1
|
|
|
caretaker
|
|
|
policy
|
|
|
nonresectable
|
|
|
sterility
|
Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.
|
|
eralphaphosphoser118
|
|
|
mecp2mediated
|
|
|
smadinduced
|
|
|
viralinfectiondependent
|
|
|
aandor
|
|
|
guanineadenosine
|
|
|
cobll1
|
cordon-bleu WH2 repeat protein-like 1|
|
|
nonhispanic
|
|
|
hoxc4
|
homeobox C4|This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008]
|
|
brd4driven
|
|
|
escaping
|
|
|
fad24
|
|
|
p53bound
|
|
|
etv6abl
|
|
|
highstage
|
|
|
polymorphismsnp
|
|
|
adjudicated
|
|
|
jakcmyc
|
|
|
disordersinduced
|
|
|
anakinra
|
|
|
x11
|
|
|
eyeballs
|
|
|
imp3pten
|
|
|
opsonised
|
|
|
lichenoides
|
|
|
chondroblastic
|
|
|
manifests
|
|
|
ligandinduced
|
|
|
undeuterated
|
|
|
precultured
|
|
|
bp230
|
|
|
t1719
|
|
|
srecii
|
|
|
stenotic
|
|
|
macroglia
|
Neuroglial cells of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together. Originally, the term was used for the astrocytes alone.
|
|
rs10920533
|
|
|
amphitropic
|
|
|
nominal
|
|
|
s12l
|
|
|
plexinc1
|
|
|
assurance
|
|
|
usp7hausp
|
|
|
t300
|
|
|
yrsold
|
|
|
inhibitorinduced
|
|
|
t308
|
|
|
nondifferentiated
|
|
|
thyroxinebinding
|
Interacting selectively and non-covalently with thyroxine (T4) or triiodothyronine (T3), tyrosine-based hormones produced by the thyroid gland.
|
|
normalreactive
|
|
|
charcotmarietooth
|
|
|
liverenriched
|
|
|
xiiib
|
|
|
acetylcoenzyme
|
|
|
c196gt
|
|
|
pkcinduced
|
|
|
fancd2
|
Fanconi anemia, complementation group D2|The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
|
eboxes
|
|
|
amlmds
|
|
|
first
|
|
|
hpscc
|
|
|
receptor1r
|
|
|
pelizaeusmerzbacher
|
|
|
sumo1targeted
|
|
|
koyanagiharada
|
|
|
reepithelialization
|
|
|
angiotropic
|
|
|
cmg2
|
|
|
hif1induced
|
|
|
polyubiquitinindependent
|
|
|
hpscs
|
|
|
antigendr
|
|
|
hodgkins
|
|
|
sperf2zdhhc9
|
|
|
infectioninduced
|
|
|
abhd5
|
abhydrolase domain containing 5|The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
|
|
aib1src3
|
|
|
mycmirnaezh2
|
|
|
consultation
|
|
|
hydrophobicity
|
|
|
maternalonly
|
|
|
segmentspecific
|
|
|
svegf
|
|
|
ikzf1deleted
|
|
|
inefficient
|
|
|
hmgiyrelated
|
|
|
siha
|
|
|
thr501
|
|
|
cyanotic
|
|
|
attenuates
|
|
|
infectioninflammation
|
|
|
somatization
|
|
|
nonresponding
|
|
|
usf12
|
|
|
hif2amediated
|
|
|
haploblock
|
|
|
sulfane
|
|
|
deciphering
|
|
|
nucleosides
|
|
|
hgsoc
|
|
|
itcorrelated
|
|
|
gcp2cxcl6
|
|
|
p21ccnd1cdk6e2f1
|
|
|
rs1799945
|
|
|
hat1r
|
|
|
mirna15a16
|
|
|
vesselassociated
|
|
|
dandywalker
|
|
|
hormonebinding
|
Interacting selectively and non-covalently with any hormone, naturally occurring substances secreted by specialized cells that affect the metabolism or behavior of other cells possessing functional receptors for the hormone.
|
|
teleangiectasia
|
|
|
brcc36
|
|
|
hotspot
|
|
|
alpha1adrenergic
|
|
|
interior
|
|
|
choriodecidua
|
A fetal membrane.
|
|
hoyeraalhreidarrson
|
|
|
cgamma
|
|
|
gpr30egfr
|
|
|
nk1r
|
|
|
nonamers
|
|
|
il5ra
|
interleukin 5 receptor, alpha|The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]
|
|
chondroadherin
|
|
|
arguing
|
|
|
nonprotein
|
|
|
ceacam1sf
|
|
|
antrum
|
|
|
hypoventilation
|
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
|
|
strainspecific
|
|
|
rs11465817rs1343152
|
|
|
highsalt
|
|
|
proteincoupling
|
|
|
ect2interacting
|
|
|
g1181c
|
|
|
mofmediated
|
|
|
keloidresistant
|
|
|
sigma
|
|
|
hiv1induced
|
|
|
ge1
|
|
|
heroindependent
|
|
|
moncpt
|
|
|
ssat2
|
|
|
multicomponent
|
|
|
ssat1
|
|
|
regulationcreactive
|
|
|
bedside
|
|
|
dinucleotide
|
|
|
threshold
|
|
|
internucleosomal
|
|
|
postinduced
|
|
|
genessetd2
|
|
|
menetriers
|
|
|
epiphyseal
|
|
|
tcellbased
|
|
|
interferongammainducible
|
|
|
dcmp
|
A pyrimidine 2'-deoxyribonucleoside 5'-monophosphate having cytosine as the nucleobase.
|
|
lipids
|
|
|
admixture
|
|
|
ascizdynll1
|
|
|
alternation
|
|
|
gep
|
|
|
get
|
|
|
lcmediated
|
|
|
gec
|
|
|
c551ga
|
|
|
gef
|
Stimulates the exchange of guanyl nucleotides associated with a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase.
|
|
leu18
|
|
|
lmvecs
|
|
|
geo
|
|
|
gen
|
|
|
gem
|
GTP binding protein overexpressed in skeletal muscle|The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
|
|
gel
|
|
|
pyogenes
|
|
|
ihcrtpcr
|
|
|
periendothelial
|
|
|
deacetylates
|
|
|
nfkappabactivated
|
|
|
d3s4s5
|
|
|
malaysian
|
|
|
deacetylated
|
|
|
nostrin
|
nitric oxide synthase trafficking|Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]
|
|
rprm
|
reprimo, TP53 dependent G2 arrest mediator candidate|
|
|
y559f
|
|
|
preneoplastic
|
|
|
seap
|
|
|
resistantabcg2overexpressing
|
|
|
starlet
|
|
|
seam
|
|
|
seal
|
|
|
mesemchymal
|
|
|
plateletlike
|
|
|
nonadditional
|
|
|
g158a
|
|
|
indicted
|
|
|
satisfying
|
|
|
azide
|
Any nitrogen molecular entity containing the group -N3.
|
|
lox1mt1mmp
|
|
|
label
|
|
|
boundaries
|
|
|
ranbp1interfered
|
|
|
indictet
|
|
|
leftcfbinding
|
|
|
alphahemoglobin
|
|
|
vitd
|
|
|
across
|
|
|
cuznsuperoxide
|
|
|
demethylaseas
|
|
|
olig1smad
|
|
|
perlecan
|
|
|
infrastructure
|
|
|
nonamyloidbeta
|
|
|
clm
|
|
|
lrp5lrp6
|
|
|
spermatozoalike
|
|
|
rs12325817
|
|
|
p75ngfrmediated
|
|
|
clh
|
|
|
ll37stimulated
|
|
|
rs1805054
|
|
|
eif2alphap
|
|
|
tumorsthese
|
|
|
expleomorphic
|
|
|
blasts
|
|
|
tour
|
|
|
pvrl2
|
poliovirus receptor-related 2 (herpesvirus entry mediator B)|This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
|
dka
|
|
|
conducting
|
|
|
dkk
|
|
|
mannosyltransferase
|
|
|
dislocations
|
|
|
nsrebp
|
|
|
uncouple
|
|
|
malassezia
|
|
|
androgenreceptormediated
|
|
|
janusactivated
|
|
|
clc
|
|
|
considering
|
|
|
fbxw8
|
F-box and WD repeat domain containing 8|This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
|
caat
|
|
|
receotor
|
|
|
capable
|
|
|
wobble
|
|
|
pak1pak2
|
|
|
cellularinhibitor
|
|
|
srxprxi
|
|
|
flecainide
|
|
|
assocaited
|
|
|
compelling
|
|
|
capably
|
|
|
tlr6110
|
|
|
eg5kif11
|
|
|
wake
|
|
|
injurry
|
|
|
exosomal
|
|
|
kappa
|
|
|
typerestricted
|
|
|
ctnnb
|
|
|
cdkn2ap16ink4a
|
|
|
citral
|
|
|
fbxw5
|
F-box and WD repeat domain containing 5|This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]
|
|
sirt1exon8
|
|
|
clr
|
|
|
gabarbp
|
|
|
mnadpme
|
|
|
investigating
|
|
|
leishmaniamediated
|
|
|
ldoc1parp1
|
|
|
centertype
|
|
|
calumenin
|
|
|
alagly
|
|
|
ilkoverexpressing
|
|
|
tumorendothelial
|
|
|
eralphaalpha
|
|
|
hrps3
|
|
|
cisternal
|
|
|
p190rhogaprhoa
|
|
|
hyperfunctional
|
|
|
rs2276465
|
|
|
cisternae
|
|
|
cox41
|
|
|
lsils
|
|
|
ile408val
|
|
|
alsin
|
|
|
netrinlike
|
|
|
lsilh
|
|
|
nucleoid
|
The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined.
|
|
workplace
|
|
|
extended
|
|
|
totalaminoacid
|
|
|
rnatransporting
|
|
|
kazaks
|
|
|
r565w
|
|
|
nephron
|
A single excretory unit of the vertebrate kidney.
|
|
c1867
|
|
|
acetyl
|
|
|
extender
|
|
|
angiodema
|
|
|
pulsestimulated
|
|
|
tandemrepeat
|
|
|
lys554lys
|
|
|
kazakh
|
|
|
ruffling
|
|
|
rcosmad
|
|
|
cytochromes
|
|
|
dsg3mediated
|
|
|
diagnosistherapeutic
|
|
|
actincytoskeleton
|
The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
|
|
beta4galt1
|
|
|
methylhur
|
|
|
consisted
|
|
|
nonadhesive
|
|
|
rab11amyosin
|
|
|
vegfmef2c
|
|
|
acthsecreting
|
|
|
tcp1alpha
|
|
|
pt20210a
|
|
|
hlab5701mediated
|
|
|
p53nanog
|
|
|
adam7
|
|
|
thrombinstimulated
|
|
|
epothilone
|
Any member of the class of 16-membered macrolide natural products, or their analogues, normally containing a double bond or its epoxide at positions 12-13 and bearing hydroxy groups at positions 4 and 8, methyl groups at positions 5, 5, 7, and 9, an oxo group at position 6, and a 1-(2-substituted-1,3-thiazol-4-yl)prop-1-en-2-yl substituent at position 15.
|
|
mtormediated
|
|
|
rs11134527
|
|
|
tctt
|
|
|
adam8
|
ADAM metallopeptidase domain 8|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]
|
|
adam9
|
ADAM metallopeptidase domain 9|This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
|
|
prolactinstat5
|
|
|
papillarylike
|
|
|
arl15
|
ADP-ribosylation factor-like 15|
|
|
src3mediated
|
|
|
arl16
|
ADP-ribosylation factor-like 16|
|
|
alpha1beta3gamma2
|
|
|
b58
|
|
|
foxk2
|
forkhead box K2|The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq, Jul 2008]
|
|
p011
|
|
|
eif3i
|
eukaryotic translation initiation factor 3, subunit I|
|
|
haematuria
|
|
|
polymorphonuclear
|
|
|
b56
|
|
|
eif3j
|
eukaryotic translation initiation factor 3, subunit J|This gene encodes a core subunit of the eukaryotic initiation factor 3 complex, which participates in the initiation of translation by aiding in the recruitment of protein and mRNA components to the 40S ribosome. There are pseudogenes for this gene on chromosomes 1, 3, and 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
|
|
b54
|
|
|
b55
|
|
|
r555w
|
|
|
advillin
|
|
|
atg14l
|
|
|
intranuclear
|
|
|
tsp18831agin
|
|
|
geneimmunotherapy
|
|
|
vertically
|
|
|
pex26
|
peroxisomal biogenesis factor 26|This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]
|
|
lficolin
|
|
|
identifying
|
|
|
cd74nrg1
|
|
|
enyme
|
|
|
helixhelix
|
|
|
elispot
|
|
|
ci127467
|
|
|
eif3a
|
eukaryotic translation initiation factor 3, subunit A|
|
|
dnarelated
|
|
|
pairbp1
|
|
|
thrombinactivable
|
|
|
obsessions
|
|
|
dlgap5
|
discs, large (Drosophila) homolog-associated protein 5|
|
|
sphk1dependent
|
|
|
bombesin
|
|
|
drb11602
|
|
|
the197
|
|
|
gastrinpositive
|
|
|
nondonor
|
|
|
ddb2
|
damage-specific DNA binding protein 2, 48kDa|This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
|
strapdependent
|
|
|
ddb1
|
damage-specific DNA binding protein 1, 127kDa|The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]
|
|
maos
|
|
|
her2akt
|
|
|
irontransferrin
|
|
|
maob
|
monoamine oxidase B|The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008]
|
|
maoa
|
monoamine oxidase A|This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]
|
|
mfn1mfn2
|
|
|
wt1dependent
|
|
|
trptrp
|
|
|
vatpases
|
|
|
k562
|
Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene.
|
|
antipenicillin
|
|
|
each
|
|
|
dishevelleddependent
|
|
|
tef3
|
|
|
tef1
|
|
|
glycerol
|
A triol with a structure of propane substituted at positions 1, 2 and 3 by hydroxy groups.
|
|
diseasecoronary
|
|
|
hyperlipidaemia
|
|
|
heparinheparan
|
|
|
marneffei
|
|
|
ecadherinbound
|
|
|
neil2mediated
|
|
|
her
|
|
|
cd154
|
|
|
tasquinimodinduced
|
|
|
arpp21
|
cAMP-regulated phosphoprotein, 21kDa|This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
|
|
purported
|
|
|
fertile
|
|
|
pleiotypic
|
|
|
mau2
|
MAU2 sister chromatid cohesion factor|
|
|
defiency
|
|
|
dimersoligomers
|
|
|
pmlretinoic
|
|
|
zo1mrckbeta
|
|
|
carboxyproximal
|
|
|
caucasianbrazilian
|
|
|
cd4cd25hicd127lo
|
|
|
syntaxin1a
|
|
|
vdbp
|
|
|
promoterselective
|
|
|
ifngammastimulated
|
|
|
vh1
|
|
|
hepatosplenomegaly
|
Simultaneous enlargement of the liver and spleen.
|
|
latedomain
|
|
|
drd4mrna
|
|
|
slc22a1abcb1
|
|
|
brmtype
|
|
|
tyrosine
|
|
|
motives
|
|
|
cc2lz
|
|
|
solidphase
|
|
|
arfgap
|
|
|
woude
|
|
|
spico
|
|
|
cenpedependent
|
|
|
circadianrelated
|
|
|
spica
|
|
|
oxidantinjured
|
|
|
spice
|
|
|
aktand
|
|
|
rae1numa
|
|
|
cardinoma
|
|
|
vhs
|
|
|
vhr
|
|
|
bonferronicorrected
|
|
|
vhl
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase|Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
|
|
rhdl
|
|
|
myristoylation
|
|
|
p19arfp53
|
|
|
vhd
|
|
|
h3k14
|
|
|
enhancerblocking
|
|
|
polymorphs
|
|
|
pi3kaktpkb
|
|
|
cyp26mediated
|
|
|
contralateral
|
|
|
hspb2alpha
|
|
|
examine
|
|
|
cellsubstrate
|
|
|
tmsb15b
|
|
|
microrna200
|
|
|
mrp2abcc2
|
|
|
vegfr2negative
|
|
|
nat8l
|
|
|
mapksap1
|
|
|
srcracdependent
|
|
|
essentiality
|
|
|
muc1dependent
|
|
|
minwith
|
|
|
gp130jakstat3
|
|
|
formed
|
|
|
sna1induced
|
|
|
hypokalemia
|
|
|
microrna20a
|
|
|
progesteroneinduced
|
|
|
glabra
|
|
|
betweenindividual
|
|
|
islanders
|
|
|
postntgfbi
|
|
|
genotypesalleles
|
|
|
betaactinarp4
|
|
|
gnb1mediated
|
|
|
stammediated
|
|
|
par1induced
|
|
|
excretion
|
The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds.
|
|
serogroups
|
|
|
promotor
|
|
|
polyubiquitinate
|
|
|
capglymediated
|
|
|
cyp3ap1
|
|
|
rasindependent
|
|
|
niacin
|
|
|
diffusive
|
|
|
drd2ankk1taq1a
|
|
|
syuiq5
|
|
|
t675c
|
|
|
fbxo22
|
F-box protein 22|This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
|
|
gcn2
|
|
|
gcn5
|
|
|
fbxo25
|
F-box protein 25|This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
fbxo28
|
F-box protein 28|Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
|
orf5
|
|
|
binase
|
|
|
srccortactin
|
|
|
caf1a
|
|
|
caf1b
|
|
|
rbvinduced
|
|
|
cd10bcl6mum1ki67low
|
|
|
melanotic
|
|
|
a18involved
|
|
|
plausibility
|
|
|
oct4epcam
|
|
|
nfkappabreladependent
|
|
|
iup
|
|
|
ms4a4a
|
|
|
ptld
|
|
|
gs15
|
|
|
crviinduced
|
|
|
gcnf
|
|
|
skov3
|
|
|
zygote
|
Diploid cell resulting from the fusion of male and female gametes at fertilization.
|
|
acbd3
|
acyl-CoA binding domain containing 3|The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]
|
|
nucleusindependent
|
|
|
gcns
|
|
|
beta1186270gamma1
|
|
|
folr1
|
folate receptor 1 (adult)|The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]
|
|
folr2
|
|
|
folr3
|
folate receptor 3 (gamma)|This gene encodes a member of the folate receptor (FOLR) family, members of which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This gene includes two polymorphic variants; the shorter one has two base deletion in the CDS, resulting in a truncated polypeptide, compared to the longer one. Both protein products are constitutively secreted in hematopoietic tissues and are potential serum marker for certain hematopoietic malignancies. The longer protein has a 71% and 79% sequence homology with the FOLR1 and FOLR2 proteins, respectively. [provided by RefSeq, Jul 2008]
|
|
tafibetacan
|
|
|
glioma
|
A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.|Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH).
|
|
cerivastatin
|
(3R,5S)-3,5-dihydroxyhept-6-enoic acid in which the (7E)-hydrogen is substituted by a 4-(4-fluorophenyl)-2,6-diisopropyl-5-(methoxymethyl)pyridin-3-yl group. Formerly used (as its sodium salt) to lower cholesterol and prevent cardiovascular disease, it was withdrawn from the market worldwide in 2001 following reports of a severe form of muscle toxicity.
|
|
cargospecific
|
|
|
zero
|
|
|
danshen
|
|
|
mir3425p
|
|
|
hypofibrinogenaemia
|
|
|
confered
|
|
|
cdc45mcm27gins
|
|
|
cardiomyocyte
|
|
|
derp6elp5
|
|
|
mir149
|
|
|
mir148
|
|
|
tgfss1
|
|
|
bclxlbaxmediated
|
|
|
mir143
|
|
|
mir142
|
|
|
mir141
|
|
|
mir140
|
|
|
mir147
|
|
|
mir146
|
|
|
antivwf
|
|
|
mule
|
|
|
cdw150
|
|
|
tap1tap2
|
|
|
fcgammariiia48
|
|
|
metalloproteinase26
|
|
|
triacylglycerolrich
|
|
|
lplinduced
|
|
|
ptendependent
|
|
|
herreceptors
|
|
|
col4a5
|
collagen, type IV, alpha 5|This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
|
|
btlahvem
|
|
|
optineurin
|
|
|
betadna
|
|
|
nur77mediated
|
|
|
aric
|
|
|
mentions
|
|
|
factorab
|
|
|
iuml
|
|
|
factoraa
|
|
|
rdgbbeta
|
|
|
insulinsecreting
|
|
|
weblike
|
|
|
cdr1d
|
|
|
africa
|
|
|
amygdaloid
|
|
|
cd40lipid
|
|
|
allergenspecific
|
|
|
pigmented
|
|
|
tetrandrine
|
|
|
duplicationspecifically
|
|
|
uniformity
|
|
|
nonsuicide
|
|
|
monocytogenes
|
|
|
mir23a3p
|
|
|
arix
|
|
|
sls
|
|
|
cancerogenesis
|
|
|
physiciandiagnosed
|
|
|
nadbinding
|
|
|
immuneinflammatory
|
|
|
ca2sensing
|
|
|
glomus
|
|
|
cellulitis
|
|
|
hyperosmolar
|
|
|
ictal
|
|
|
osteoimmunology
|
|
|
komi
|
|
|
antipig
|
|
|
thrombinlike
|
|
|
cells1
|
|
|
rpn1s2
|
|
|
glycosidic
|
|
|
hour
|
|
|
phosphatidylinositol3kinasedependent
|
|
|
tgfbeta123smad3
|
|
|
recall
|
|
|
e24bisphydroxyphenyl2butenal
|
|
|
mispairs
|
|
|
remain
|
|
|
malfunction
|
|
|
sult1e1
|
sulfotransferase family 1E, estrogen-preferring, member 1|Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008]
|
|
cavernosum
|
|
|
pparalphagamma
|
|
|
fviiafx
|
|
|
thr168
|
|
|
drb10401
|
|
|
alphadgk
|
|
|
drb10402
|
|
|
dthdpase
|
|
|
myoblasts
|
|
|
collision
|
|
|
multipleorgan
|
|
|
par2dependent
|
|
|
spondylarthropathy
|
Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others.
|
|
forcedexpression
|
|
|
arg142trp
|
|
|
duplicationmultiplication
|
|
|
unappreciated
|
|
|
beta3gamma2
|
|
|
stil
|
SCL/TAL1 interrupting locus|This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
stim
|
|
|
hladqb10303
|
|
|
actr
|
|
|
appcleaving
|
|
|
acth
|
|
|
acti
|
|
|
aktmtor
|
|
|
krasgtp
|
|
|
mapt
|
microtubule-associated protein tau|This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]
|
|
acta
|
|
|
actb
|
actin, beta|This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008]
|
|
formamidopyrimidine
|
|
|
urocortin1
|
|
|
tunelpositive
|
|
|
tramtrif
|
|
|
gradeii
|
|
|
plasmodium
|
|
|
roflumilast
|
|
|
sophistication
|
|
|
silenceress
|
|
|
ftds
|
|
|
countering
|
|
|
accorded
|
|
|
cypaemmprin
|
|
|
drb11101dqb10301
|
|
|
xxy
|
|
|
rad50nbs1
|
|
|
yghj
|
|
|
lrrk2associated
|
|
|
jnk1independent
|
|
|
act1
|
|
|
brca1bach1
|
|
|
hfr
|
|
|
betaisotypes
|
|
|
hft
|
|
|
map2
|
microtubule-associated protein 2|This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]
|
|
map3
|
|
|
map1
|
|
|
map6
|
microtubule-associated protein 6|This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
|
map7
|
microtubule-associated protein 7|The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
|
|
map4
|
microtubule-associated protein 4|The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
|
|
myotubularinrelated
|
|
|
hfe
|
hemochromatosis|The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
|
mcammuc18
|
|
|
hff
|
|
|
betapol
|
|
|
thrombasthenia
|
|
|
pparg2rs1801282
|
|
|
spermbinding
|
|
|
wnt7b
|
wingless-type MMTV integration site family, member 7B|This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008]
|
|
rhoarock
|
|
|
proteinnacetyltransferase
|
|
|
lipophilic
|
|
|
punctate
|
|
|
highaltitude
|
|
|
siderophores
|
|
|
cellcycleregulated
|
|
|
emerydreifuss
|
|
|
mgfs
|
|
|
fissure
|
|
|
rs11931074
|
|
|
baat
|
bile acid CoA:amino acid N-acyltransferase|The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
vivoin
|
|
|
boxbinding
|
|
|
localizationfunction
|
|
|
mir99a
|
|
|
chondrocalcinosis
|
An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
|
|
zipperlike
|
|
|
pyrethroid
|
|
|
tbrii
|
|
|
subclone
|
|
|
frzb
|
frizzled-related protein|The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]
|
|
pyruvate
|
|
|
ser68
|
|
|
uracils
|
|
|
sycn
|
|
|
golgile
|
|
|
compound
|
|
|
ser63
|
|
|
ser62
|
|
|
ser65
|
|
|
crohn
|
|
|
rs3212986
|
|
|
rnmtl1
|
RNA methyltransferase like 1|
|
|
antagonistil1ra
|
|
|
apobec3ginduced
|
|
|
rbe2f
|
|
|
gfap
|
glial fibrillary acidic protein|This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
|
|
evade
|
|
|
micro
|
|
|
ileum
|
The last division of the small intestine extending between the jejunum and large intestine.
|
|
repeating
|
|
|
grg5aes
|
|
|
exons
|
|
|
visually
|
|
|
gcp3spc98
|
|
|
engaging
|
|
|
tumorinfiltrated
|
|
|
inkrs
|
|
|
cd200r
|
|
|
isres
|
|
|
deltanp63bmp7
|
|
|
singapore
|
|
|
feedbacks
|
|
|
mhc2ta
|
|
|
selfantigen
|
|
|
bicalutamide
|
A sulfone that is an oral non-steroidal antiandrogen used in the treatment of prostate cancer and hirsutism.
|
|
exon5
|
|
|
exon4
|
|
|
exon7
|
|
|
exon6
|
|
|
exon1
|
|
|
pentacoordinated
|
|
|
bkpyv
|
|
|
p63rhogefgalphaqrgs2
|
|
|
exon8
|
|
|
candesartan
|
A benzimidazolecarboxylic acid that is 1H-benzimidazole-7-carboxylic acid substituted by an ethoxy group at position 2 and a ({2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl}methyl) group at position 1. It is a angiotensin receptor antagonist used for the treatment of hypertension.
|
|
extraordinary
|
|
|
membranegbm
|
|
|
rs909253
|
|
|
rhofamily
|
|
|
gly131
|
|
|
gly132
|
|
|
fima
|
|
|
ns398
|
|
|
betacelllike
|
|
|
bisans
|
|
|
pcsk9ldl
|
|
|
hdac1p300
|
|
|
phosphoantibodies
|
|
|
sec31ajak2
|
|
|
fortyseven
|
|
|
cholanciocarcinoma
|
|
|
smokerelated
|
|
|
clc3b
|
|
|
tlr2
|
toll-like receptor 2|The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is expressed most abundantly in peripheral blood leukocytes, and mediates host response to Gram-positive bacteria and yeast via stimulation of NF-kappaB. [provided by RefSeq, Jul 2008]
|
|
tlr3
|
toll-like receptor 3|The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. [provided by RefSeq, Jul 2008]
|
|
lymphocytedependent
|
|
|
tlr1
|
toll-like receptor 1|The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
|
|
tlr6
|
toll-like receptor 6|The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]
|
|
tlr7
|
toll-like receptor 7|The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008]
|
|
tlr4
|
toll-like receptor 4|The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor has been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
|
|
tlr5
|
toll-like receptor 5|This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009]
|
|
swisnflike
|
|
|
azd8055
|
|
|
tlr9
|
toll-like receptor 9|The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is preferentially expressed in immune cell rich tissues, such as spleen, lymph node, bone marrow and peripheral blood leukocytes. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Jul 2008]
|
|
tnfniii
|
|
|
alogliptin
|
A piperidine that is 3-methyl-2,4-dioxo-3,4-dihydropyrimidine carrying additional 2-cyanobenzyl and 3-aminopiperidin-1-yl groups at positions 1 and 2 respectively (the R-enantiomer). Used in the form of its benzoate salt for treatment of type 2 diabetes.
|
|
overexepressed
|
|
|
cytokinemediated
|
|
|
brca1ctipmediated
|
|
|
tp53dependent
|
|
|
hamsters
|
|
|
recruitmentmigration
|
|
|
whitel
|
|
|
demostrated
|
|
|
too
|
|
|
hippellindauassociated
|
|
|
anosmia
|
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
|
|
etsl
|
|
|
microcalorimetry
|
|
|
autoimmunitypositive
|
|
|
differentiate
|
|
|
glrx
|
glutaredoxin (thioltransferase)|This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011]
|
|
differentiati
|
|
|
cytip
|
cytohesin 1 interacting protein|The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug 2008]
|
|
frameshiftpremature
|
|
|
factor1independent
|
|
|
cyclic
|
|
|
sipoglitazar
|
|
|
cyclin
|
Modulates the activity of a cyclin-dependent protein serine/threonine kinase, enzymes of the protein kinase family that are regulated through association with cyclins and other proteins.
|
|
nterminalcterminal
|
|
|
riskbearing
|
|
|
glucosestimulated
|
|
|
cln6m241t
|
|
|
lectin
|
|
|
munc18asyx1a
|
|
|
cl7mit
|
|
|
antilymphangiogenic
|
|
|
focally
|
|
|
cancerbearing
|
|
|
hrad9hrad1hhus1
|
|
|
muscletype
|
|
|
cortactin
|
|
|
phenotyping
|
|
|
rbs
|
|
|
pafah1b1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)|This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
|
|
u138mg
|
|
|
pafah1b3
|
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)|This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
|
|
pafah1b2
|
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)|Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]
|
|
itln2
|
|
|
ectoprotein
|
|
|
refute
|
|
|
athook
|
|
|
degraded
|
|
|
alpha11beta1
|
|
|
proteasomeindependent
|
|
|
methylations
|
|
|
susceptilibity
|
|
|
skinderived
|
|
|
ttpmediated
|
|
|
eggs
|
|
|
chart
|
|
|
ccvs
|
|
|
assoc
|
|
|
services
|
|
|
chk2dependent
|
|
|
chifeng
|
|
|
constructued
|
|
|
mediastinal
|
|
|
dystropht
|
|
|
tetramerstaining
|
|
|
dystrophy
|
|
|
rs9275328
|
|
|
rbp
|
|
|
klothofgfr1
|
|
|
gammadeltat
|
|
|
audiological
|
|
|
consanguineous
|
|
|
hbs1
|
|
|
mekerk12
|
|
|
swelling
|
|
|
ch2ch3
|
|
|
allopregnanolone
|
|
|
pm694i
|
|
|
il1betail1ribetacatenin
|
|
|
meconiuminduced
|
|
|
pathwaypromotes
|
|
|
ddit4l
|
DNA-damage-inducible transcript 4-like|
|
|
ebers
|
|
|
ubxd8mediated
|
|
|
ck7cd10
|
|
|
cogitive
|
|
|
h1pv
|
|
|
rs2850328
|
|
|
tafii250mediated
|
|
|
hrp2
|
|
|
hrp3
|
|
|
hbsp
|
|
|
pretrna
|
|
|
plasticityreview
|
|
|
regualted
|
|
|
toddlers
|
|
|
hbsc
|
|
|
cyp17a1
|
cytochrome P450, family 17, subfamily A, polypeptide 1|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
|
|
nlgn1
|
neuroligin 1|This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]
|
|
adiponectins
|
|
|
fuscreb3l1
|
|
|
hpv38
|
|
|
fuscreb3l2
|
|
|
lattices
|
|
|
godzilla
|
|
|
hpv31
|
|
|
pactmediated
|
|
|
rs778293
|
|
|
eber1
|
|
|
eber2
|
|
|
parp2is
|
|
|
hrpc
|
|
|
hrpa
|
|
|
agnoprotein
|
|
|
rab18mediated
|
|
|
spiked
|
|
|
fxrregulated
|
|
|
phosphoser39
|
|
|
betagal
|
|
|
n6methyladenosine
|
|
|
beclin1binding
|
|
|
mir193a5pyy1apc
|
|
|
unsatisfactory
|
|
|
p41arcreduced
|
|
|
infiltrative
|
|
|
intracrine
|
|
|
inflammationfibrosis
|
|
|
curvilinear
|
|
|
r32q
|
|
|
innatelike
|
|
|
theta1null
|
|
|
thomsenfriedenreich
|
|
|
r32g
|
|
|
celllineagespecific
|
|
|
gtpasesdependent
|
|
|
heteromultimerization
|
|
|
pathan
|
|
|
hpnk
|
|
|
premise
|
|
|
derepressing
|
|
|
filaggrin
|
|
|
a102
|
|
|
a103
|
|
|
foramina
|
|
|
r717h
|
|
|
foreign
|
|
|
hnf1alphamody3
|
|
|
erbb2dependent
|
|
|
dysphagia
|
Difficulty in swallowing.
|
|
oxidativenitrosative
|
|
|
point
|
|
|
downregulated
|
|
|
centaurin
|
|
|
hhexide
|
|
|
f2isoprostane
|
|
|
signalingrelated
|
|
|
downregulates
|
|
|
expensive
|
|
|
cytokinetic
|
|
|
fused
|
|
|
phosphoerk
|
|
|
rheumatologic
|
|
|
apocam
|
|
|
screened
|
|
|
confirmatory
|
|
|
faithfully
|
|
|
fuses
|
|
|
antichlamydial
|
|
|
gata2dependent
|
|
|
drb11104
|
|
|
kurds
|
|
|
mta1s
|
|
|
drb11101
|
|
|
resveratrolenhanced
|
|
|
nontransplant
|
|
|
orlistat
|
|
|
impase
|
|
|
cd40cd40
|
|
|
deltathalassemia
|
|
|
hoxb7vegf
|
|
|
gzf1
|
GDNF-inducible zinc finger protein 1|
|
|
cellhelping
|
|
|
resisted
|
|
|
ilkaktb
|
|
|
ccl2ampkmtorc1survivin
|
|
|
normoxia
|
|
|
normoxic
|
|
|
pp2cepsilon
|
|
|
cflipcflar
|
|
|
horseshoe
|
|
|
ivs13
|
|
|
hfpg2
|
|
|
tcflefdependent
|
|
|
hfpg1
|
|
|
cd45rblo
|
|
|
portugal
|
|
|
century
|
|
|
membranesculpting
|
|
|
neuromodulation
|
|
|
hydrocele
|
|
|
nephropathic
|
|
|
surfaceexpressed
|
|
|
carinoma
|
|
|
urethra
|
The tube through which urine leaves the body. It empties urine from the bladder.
|
|
ethylene
|
|
|
jb6
|
|
|
welldesigned
|
|
|
lfa1expressing
|
|
|
nfkappabcjun
|
|
|
ctshmediated
|
|
|
tap63independent
|
|
|
cystogenesis
|
|
|
lpts
|
|
|
cisplatinum
|
|
|
amiodarone
|
A member of the class of 1-benzofurans that is 1-benzofuran substituted by a butyl group at position 2 and a 4-[2-(diethylamino)ethoxy]-3,5-diiodobenzoyl group at position 3. It is a cardiovascular drug used for the treatment of cardiac dysrhythmias.
|
|
ldlcholesterol
|
Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol.
|
|
p19arf
|
|
|
lic110870
|
|
|
sumo
|
|
|
takayasu
|
|
|
jbs
|
|
|
signalets1hif2alpha
|
|
|
kri2ds2
|
|
|
vesicoureteric
|
|
|
t158a
|
|
|
serovar
|
|
|
jbc
|
|
|
hpkr1
|
|
|
ucassociated
|
|
|
traffic
|
|
|
sarcomatoid
|
|
|
hemopexinlike
|
|
|
ligandreceptor
|
|
|
uniquelong
|
|
|
segregate
|
|
|
tmem16fdependent
|
|
|
lyve1binding
|
|
|
etareceptors
|
|
|
overfed
|
|
|
centrocytepostgc
|
|
|
ectoenzyme
|
|
|
p21rac
|
|
|
caveolin1binding
|
|
|
tsmir
|
|
|
rsf1
|
remodeling and spacing factor 1|This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone. [provided by RefSeq, Sep 2011]
|
|
tnfrsf9
|
tumor necrosis factor receptor superfamily, member 9|The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008]
|
|
p21ras
|
|
|
tnfrsf6
|
|
|
clamping
|
|
|
cul4ddb1
|
|
|
hlaa68
|
|
|
ccr9dependent
|
|
|
anticd40
|
|
|
thyroiditis
|
Updating to more specific UMLS_CUI from C0029495 to C0040147.
|
|
anticd45
|
|
|
anticd44
|
|
|
shortshort
|
|
|
vasodilatation
|
An increase in the internal diameter of blood vessels, especially arterioles or capillaries, usually resulting in a decrease in blood pressure.
|
|
mir23b3p
|
|
|
knock
|
|
|
elucidated
|
|
|
adiponutrin
|
|
|
preradiation
|
|
|
serine192197
|
|
|
filamentousactin
|
A two-stranded helical polymer of the protein actin.
|
|
hahho1
|
|
|
hypothalamic
|
|
|
notch1furin
|
|
|
rbp4adiponectin
|
|
|
cd8igfir
|
|
|
ligament
|
|
|
alpha5ivalpha6iv
|
|
|
anomalies
|
|
|
metabolic
|
|
|
ignored
|
|
|
alyref
|
Aly/REF export factor|The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008]
|
|
thiazole
|
|
|
htertrecaspase3
|
|
|
rab5mediated
|
|
|
nullgenotype
|
|
|
mrsa
|
|
|
rtkpi3kaktmtor
|
|
|
factoralphamediated
|
|
|
l15
|
|
|
angerrelated
|
|
|
il18induced
|
|
|
l11
|
|
|
l12
|
|
|
metinduced
|
|
|
bir2selective
|
|
|
ionophore
|
This is a type of carrier produced by bacteria. It enables passive transport by shielding the ion that is being transported from the lipid membrane. It carries an ion across the membrane by enclosing the ion and travelling across the membrane. It does not form a fully open pore across the membrane.
|
|
rim44
|
|
|
inimical
|
|
|
reexperiencing
|
|
|
gsis
|
|
|
activininduced
|
|
|
candidiasis
|
An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
|
|
estrogeninsensitive
|
|
|
smokingrelated
|
|
|
rigimda5mediated
|
|
|
copurification
|
|
|
gsii
|
|
|
plxdc2
|
plexin domain containing 2|
|
|
hgmb1
|
|
|
balm3
|
|
|
c4bpbinding
|
|
|
balm1
|
|
|
complexes
|
|
|
oxamate
|
|
|
centreassociated
|
|
|
herceptin
|
|
|
erdj4
|
|
|
btrcp
|
|
|
gp130il6st
|
|
|
ma2d240
|
|
|
triton
|
|
|
vegfdvegfr3
|
|
|
cellprotective
|
|
|
srfregulated
|
|
|
symplekinzonab
|
|
|
relapsed
|
|
|
tifa
|
TRAF-interacting protein with forkhead-associated domain|
|
|
hbl2
|
|
|
exposureinduced
|
|
|
nonadenocarcinoma
|
|
|
aib1dependent
|
|
|
mb231
|
|
|
leukemiam5
|
|
|
relapses
|
|
|
leukemiam2
|
|
|
tifp
|
|
|
argonaute2
|
|
|
bsg
|
basigin (Ok blood group)|The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
nephfamily
|
|
|
crebtorc2
|
|
|
normality
|
|
|
malt1dependent
|
|
|
argonaute1
|
|
|
wnk4mediated
|
|
|
par1binteracting
|
|
|
leukocyteendothelium
|
|
|
her2ecd
|
|
|
motifadjacent
|
|
|
underlines
|
|
|
corticosterone
|
A 21-hydroxy steroid that is consists of pregn-4-ene substituted by hydroxy groups at positions 11 and 21 and oxo groups at positions 3 and 20. Corticosterone is a 21-carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands.
|
|
heparinlike
|
|
|
motivational
|
|
|
xefn14
|
|
|
mechanistic
|
|
|
underlined
|
|
|
spalmitoylation
|
|
|
cstf64tau
|
|
|
tif1
|
|
|
wnt1pi
|
|
|
nonspatial
|
|
|
collagenmodifying
|
|
|
jak2stat3pi3kakt
|
|
|
belgian
|
|
|
inolved
|
|
|
undescended
|
|
|
p53aip1
|
|
|
constant
|
|
|
tspy
|
|
|
tiartia1
|
|
|
mir26b
|
microRNA 26b|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
tif1gammasmad2smad4
|
|
|
rhogef
|
Stimulates the exchange of guanyl nucleotides associated with a GTPase of the Rho family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase.
|
|
mir26a
|
|
|
fodrin
|
|
|
cure
|
|
|
curb
|
|
|
ifnalpha2b
|
|
|
nbia
|
|
|
acidspecific
|
|
|
curn
|
|
|
tspo
|
translocator protein (18kDa)|Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]
|
|
ntf2
|
|
|
ntf3
|
neurotrophin 3|The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. [provided by RefSeq, Jul 2008]
|
|
ntf4
|
neurotrophin 4|This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 prove lethal during early postnatal development, NTF5-deficient mice only show minor cellular deficits and develop normally to adulthood. [provided by RefSeq, Jul 2008]
|
|
wdr5ash2lrbbp5
|
|
|
upaits
|
|
|
hsil6
|
|
|
vitis
|
|
|
brlf1
|
|
|
confine
|
|
|
tsp2
|
|
|
tsp1
|
|
|
ogfod1
|
2-oxoglutarate and iron-dependent oxygenase domain containing 1|
|
|
tsp4
|
|
|
endocrine
|
|
|
telomeraseactive
|
|
|
uvcinduced
|
|
|
fructose
|
A ketohexose that is an isomer of glucose.
|
|
cftrs
|
|
|
s518
|
|
|
implies
|
|
|
hsils
|
|
|
myelodysplastic
|
|
|
cooked
|
|
|
implied
|
|
|
dhx15
|
DEAH (Asp-Glu-Ala-His) box helicase 15|The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008]
|
|
uterus
|
An organ of the female mammal for containing and usually for nourishing the young during development previous to birth.
|
|
synovium
|
The inner layer of the connective tissue that seals the joint.|The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)
|
|
pi3kkip1aktgsk3beta
|
|
|
slc45a3elk4
|
|
|
mgcracgap
|
|
|
circumscriptum
|
|
|
pkrmediated
|
|
|
mesoheme
|
|
|
klenow
|
|
|
hyperexpression
|
|
|
presymptomatic
|
|
|
highpolysomy
|
|
|
singlesinglenucleotide
|
|
|
reversely
|
|
|
crafser2591433
|
|
|
acaa2
|
acetyl-CoA acyltransferase 2|The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]
|
|
arg441
|
|
|
carma3
|
|
|
carma1
|
|
|
presently
|
|
|
il1rnvntr
|
|
|
ddx41
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 41|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. [provided by RefSeq, Jul 2008]
|
|
udpgal
|
|
|
pbodies
|
|
|
tatbinding
|
|
|
ndfip2
|
Nedd4 family interacting protein 2|
|
|
rasraf1mek1erk
|
|
|
glici
|
|
|
coldsensitive
|
|
|
loxl1
|
lysyl oxidase-like 1|This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]
|
|
guyanensis
|
|
|
loxl3
|
lysyl oxidase-like 3|This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
|
loxl4
|
lysyl oxidase-like 4|This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]
|
|
diverging
|
|
|
tmem18
|
transmembrane protein 18|
|
|
humpralpha
|
|
|
eb1s
|
|
|
periaqueductal
|
|
|
cmtm2
|
CKLF-like MARVEL transmembrane domain containing 2|This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]
|
|
cmtm3
|
CKLF-like MARVEL transmembrane domain containing 3|This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
|
|
gm6001
|
|
|
cmtm5
|
CKLF-like MARVEL transmembrane domain containing 5|This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
|
cardiolipinbinding
|
Interacting selectively and non-covalently with cardiolipin.
|
|
odns
|
|
|
g17induced
|
|
|
chrm3
|
cholinergic receptor, muscarinic 3|The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. [provided by RefSeq, Jul 2008]
|
|
chrm2
|
cholinergic receptor, muscarinic 2|The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
|
|
chrm1
|
cholinergic receptor, muscarinic 1|The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008]
|
|
cxcr4beta1
|
|
|
noncpg
|
|
|
ribonuclear
|
|
|
actl6a
|
actin-like 6A|This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]
|
|
copenhagen
|
|
|
retlike
|
|
|
elisa
|
|
|
eea1vesicles
|
|
|
k153r
|
|
|
postproliferative
|
|
|
dqa105
|
|
|
synthetically
|
|
|
nos3786
|
|
|
dqa103
|
|
|
rack1mediated
|
|
|
microprocessor
|
|
|
mainzersaldino
|
|
|
ggn1
|
|
|
pank1alpha
|
|
|
ikk2nfkappa
|
|
|
fau
|
Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed|This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome and displays antimicrobial activity. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Nov 2014]
|
|
packing
|
|
|
tnfcytotoxicity
|
|
|
healing
|
|
|
safer
|
|
|
meniscus
|
A fibrous cartilage within a joint especially of the knee.
|
|
domaincontaining
|
|
|
cretan
|
|
|
leuile
|
|
|
lys773
|
|
|
c5b9induced
|
|
|
mtorp70s6k1
|
|
|
pro216
|
|
|
gstm1gstt1double
|
|
|
notch3regulated
|
|
|
muc2muc5b
|
|
|
kinse
|
|
|
isomerisation
|
|
|
jak2socs1
|
|
|
implement
|
|
|
flt3vegf
|
|
|
bcl2translocations
|
|
|
fviiivwfdepleted
|
|
|
precipitates
|
|
|
laterepairing
|
|
|
grp78caspase7
|
|
|
xase
|
|
|
vipl
|
|
|
plexinmediated
|
|
|
mllgphn
|
|
|
adh21
|
|
|
esr1p325p
|
|
|
atp5hkctd2
|
|
|
totality
|
|
|
polysumoylated
|
|
|
slidingclamp
|
|
|
pex6p
|
|
|
phallus
|
|
|
vdac1independent
|
|
|
hypopharynx
|
The portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus.
|
|
autophagylysosomal
|
|
|
hsp25hsp27
|
|
|
inflammasomeil1ri
|
|
|
ttc12
|
tetratricopeptide repeat domain 12|
|
|
nfle
|
|
|
naa1015
|
|
|
mmp2mmp9cathepsin
|
|
|
ttc19
|
tetratricopeptide repeat domain 19|This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]
|
|
selfkilling
|
|
|
unwinding
|
|
|
mir1013p
|
|
|
reinitiation
|
|
|
elasticum
|
|
|
traf2ciap2
|
|
|
otolin1
|
|
|
alk3mediated
|
|
|
traf2ciap1
|
|
|
hydroxylate
|
|
|
acidgrip1
|
|
|
mannosylated
|
|
|
nrasl61
|
|
|
il36beta
|
|
|
hmwha
|
|
|
closing
|
|
|
didnt
|
|
|
triplenegativebasallike
|
|
|
vacuolating
|
|
|
r125c
|
|
|
hsc70sgt
|
|
|
dab2mediated
|
|
|
openstate
|
|
|
energyrelated
|
|
|
erkdependent
|
|
|
lincror
|
|
|
precore
|
|
|
chemopotentiation
|
|
|
ic50s
|
|
|
varied
|
|
|
regains
|
|
|
ystic
|
|
|
rktg
|
|
|
holds
|
|
|
polyaminergic
|
|
|
hyperkalemic
|
|
|
pkd1fbxo11snail
|
|
|
hyperkalemia
|
An abnormally increased potassium concentration in the blood.
|
|
heterotetramers
|
|
|
immunoprofile
|
|
|
diphosphoribose
|
|
|
osteoarthropathy
|
|
|
erralphapgc1alpha
|
|
|
timm8a
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)|This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]
|
|
iopwas
|
|
|
profile
|
|
|
carmainteracting
|
|
|
incompetence
|
|
|
eleostearic
|
|
|
gp78amfr
|
|
|
leukemic
|
|
|
mekk1mek3p38delta
|
|
|
mnx1etv6
|
|
|
butyric
|
|
|
plgfinduced
|
|
|
fucose
|
Any deoxygalactose that is deoxygenated at the 6-position.
|
|
ppargammainduced
|
|
|
phenylmethimazole
|
|
|
interferons
|
|
|
cubilinamnionless
|
|
|
sorafenib
|
|
|
interferong
|
|
|
interferona
|
|
|
premeiotic
|
|
|
mtxinduced
|
|
|
plgv440p5
|
|
|
n215
|
|
|
adiposity
|
An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
|
|
stressrelated
|
|
|
gstm1nonnull
|
|
|
mprdelta
|
|
|
wshaped
|
|
|
jasmonate
|
|
|
cyp2e15
|
|
|
bcl2l12induced
|
|
|
hyperpolarized
|
|
|
slc29a1
|
solute carrier family 29 (equilibrative nucleoside transporter), member 1|This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
matrixcontrolled
|
|
|
gcm1syncytin
|
|
|
rabs
|
|
|
sterile20related
|
|
|
neurodevelopmentally
|
|
|
integrators
|
|
|
gelatinaseassociated
|
|
|
chemotherapeutic
|
|
|
nhe2pma
|
|
|
pzirs4
|
|
|
spliceacceptor
|
|
|
disrupts
|
|
|
mirp3
|
|
|
mirp2
|
|
|
cca2ca2calmodulindependent
|
|
|
proform
|
|
|
rad51brca1
|
|
|
activatorpromoter
|
|
|
c2171ga
|
|
|
tetragonal
|
|
|
rab1
|
|
|
rab3
|
|
|
rab2
|
|
|
rab5
|
|
|
rab4
|
|
|
rab7
|
|
|
rab6
|
|
|
rab9
|
|
|
rab8
|
|
|
ifi27
|
interferon, alpha-inducible protein 27|
|
|
shortcircuit
|
|
|
trichostatin
|
|
|
ap736
|
|
|
rossa
|
|
|
oecm1
|
|
|
tlymphoblasts
|
|
|
ischemiainduced
|
|
|
csrcrac1actinorganization
|
|
|
sexual
|
|
|
kinesins
|
|
|
g174c
|
|
|
pecpc
|
|
|
betahemoglobinopathy
|
|
|
astrocytosis
|
Proliferation of astrocytes in the area of a lesion of the central nervous system.
|
|
hthtr2
|
|
|
s598gsema3a
|
|
|
madindarby
|
|
|
kinesini
|
|
|
psychotropics
|
|
|
adenocarinoma
|
|
|
mitochodria
|
|
|
tonsilresident
|
|
|
fluctuates
|
|
|
cd44cspg
|
|
|
fourteen
|
|
|
fluctuated
|
|
|
sulfidemediated
|
|
|
biphenotypic
|
|
|
unilateral
|
|
|
hendra
|
|
|
kinesin5
|
|
|
apoproteins
|
|
|
kinesin1
|
|
|
ndp52
|
|
|
kinesin2
|
|
|
hinting
|
|
|
cholangiocarcinomas
|
|
|
kinesin8
|
|
|
absentreduced
|
|
|
yarp
|
|
|
tie2r849wexpressing
|
|
|
counterintuitively
|
|
|
reoperation
|
|
|
complexin
|
|
|
integrininduced
|
|
|
mcf7epir
|
|
|
complexii
|
|
|
holdasetype
|
|
|
thermostability
|
|
|
sacc
|
|
|
damageinjury
|
|
|
saci
|
|
|
reaches
|
|
|
viruscoinfected
|
|
|
mycoplasma
|
|
|
sacs
|
sacsin molecular chaperone|This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
|
|
reached
|
|
|
synphilin1positive
|
|
|
etv6ntrk3irs1
|
|
|
gtpchigfrp
|
|
|
rs5743708
|
|
|
cd14260
|
|
|
ocygenase1
|
|
|
nmycmediated
|
|
|
leptinmelanocortinoxytocin
|
|
|
intermediate
|
|
|
fviiiainteractive
|
|
|
factorrelated
|
|
|
pakistani
|
|
|
laminindependent
|
|
|
cororonary
|
|
|
ca9
|
carbonic anhydrase IX|Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]
|
|
vrk1
|
vaccinia related kinase 1|This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]
|
|
crmp2l
|
|
|
sac1
|
|
|
ecadherinepcam
|
|
|
sac3
|
|
|
effectsreview
|
|
|
antagonistbound
|
|
|
pneumococcus
|
|
|
clopidogrelclopidogrel
|
|
|
transduced
|
|
|
agebmimatched
|
|
|
ubiquitously
|
|
|
hemiplegic
|
|
|
highlanders
|
|
|
hemiplegia
|
|
|
cxcr5cxcl13
|
|
|
swedes
|
|
|
p4ha2
|
prolyl 4-hydroxylase, alpha polypeptide II|This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
|
sweden
|
|
|
p4ha1
|
prolyl 4-hydroxylase, alpha polypeptide I|This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
|
transduces
|
|
|
transducer
|
|
|
desmoids
|
|
|
covariate
|
|
|
preassembled
|
|
|
nrmt
|
|
|
qtdt
|
|
|
protein2alpha
|
|
|
p14arfhdm2
|
|
|
methylthioadenosine
|
|
|
gbk3beta
|
|
|
uganda
|
|
|
guggulsterone
|
|
|
nondm
|
|
|
nondn
|
|
|
fenbendazole
|
|
|
breslows
|
|
|
irs12
|
|
|
proteasesecretasechemokine
|
|
|
interdigital
|
|
|
oxldlmediated
|
|
|
c2967ca
|
|
|
btg4
|
B-cell translocation gene 4|The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008]
|
|
btg3
|
BTG family, member 3|The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
|
|
btg2
|
BTG family, member 2|The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq, Jul 2008]
|
|
btg1
|
B-cell translocation gene 1, anti-proliferative|This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]
|
|
larynx
|
The modified upper part of the trachea of air-breathing vertebrates that in humans, most other mammals, and a few lower forms contains the vocal cords.
|
|
platelettumor
|
|
|
mimics
|
|
|
tubulating
|
|
|
keap1mediated
|
|
|
calciumcalmodulindependent
|
|
|
rs4845652
|
|
|
acarbose
|
A tetrasaccharide derivative consisting of a dideoxy-4-{[4,5,6-trihydroxy-3-(hydroxymethyl)cyclohex-2-en-1-yl C7 cyclitol moiety [called valienol (or valienamine)] linked via nitrogen to isomaltotriose.
|
|
ctbp1barsinduced
|
|
|
cyscys
|
|
|
secretes
|
|
|
ptk6positive
|
|
|
ps776atxn1
|
|
|
flavanols
|
|
|
s181g
|
|
|
occasion
|
|
|
nsmaf
|
neutral sphingomyelinase (N-SMase) activation associated factor|This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
|
|
adh1c22mthfr
|
|
|
uspa1
|
|
|
ejaculated
|
|
|
telaml1positive
|
|
|
gremlinmediated
|
|
|
hamlet
|
|
|
visualized
|
|
|
shutoff
|
|
|
phagocytosis
|
An endocytosis process that results in the engulfment of external particulate material by phagocytes. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles.
|
|
definable
|
|
|
tslpactivated
|
|
|
o2sensing
|
|
|
ctcfcomplex
|
|
|
pcplc
|
|
|
knowledge
|
|
|
scorpion
|
|
|
dipeptides
|
|
|
kpna7
|
karyopherin alpha 7 (importin alpha 8)|
|
|
kpna6
|
karyopherin alpha 6 (importin alpha 7)|Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008]
|
|
dystrophin
|
|
|
solutionphase
|
|
|
kpna3
|
karyopherin alpha 3 (importin alpha 4)|The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009]
|
|
kpna2
|
karyopherin alpha 2 (RAG cohort 1, importin alpha 1)|The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination [provided by RefSeq, Jul 2008]
|
|
kpna1
|
karyopherin alpha 1 (importin alpha 5)|The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
|
|
betaarrestin2dependent
|
|
|
phosphoserinedependent
|
|
|
ht29
|
|
|
vater
|
|
|
resectiontreated
|
|
|
hijacking
|
|
|
neversmoker
|
|
|
arrhythmia
|
Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.
|
|
arrhythmic
|
|
|
nejire
|
|
|
atheroprone
|
|
|
tpl2mediated
|
|
|
nonresponder
|
|
|
ganab
|
glucosidase, alpha; neutral AB|
|
|
glucoseregulated
|
|
|
edaravone
|
|
|
approach
|
|
|
aldh3a1
|
aldehyde dehydrogenase 3 family, member A1|Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
|
|
thioredoxinrelated
|
|
|
teams
|
|
|
alpha1i2alpha2i
|
|
|
slco1a2
|
solute carrier organic anion transporter family, member 1A2|This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
|
|
isochroman
|
|
|
opiod
|
|
|
tgfbsignaling
|
|
|
gq11coupled
|
|
|
sororin
|
|
|
rapamycinmtor
|
|
|
taiwanese
|
|
|
polyphosphates
|
Any phosphate that is a salt or an ester of polyphosphoric acid or its chalcogen analogues.
|
|
japonica
|
|
|
angioedema
|
condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis
|
|
rostrocaudal
|
|
|
homeotic
|
|
|
phosphofurin
|
|
|
mirna5743p
|
|
|
c61g
|
|
|
ptpore
|
|
|
brca1deficiency
|
|
|
eif2gamma
|
|
|
invariant
|
|
|
egfrvegfhif1a
|
|
|
estrogenprogestin
|
|
|
dkk1mediated
|
|
|
autophagyinhibitory
|
|
|
densin180
|
|
|
oxalate
|
|
|
myocytes
|
|
|
psebinding
|
|
|
armenia
|
|
|
apoptosisinducing
|
|
|
effluent
|
|
|
c79771gc
|
|
|
elastinlike
|
|
|
equal
|
|
|
frem3
|
|
|
frem2
|
FRAS1 related extracellular matrix protein 2|This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
|
|
frem1
|
FRAS1 related extracellular matrix 1|This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
|
|
weas
|
|
|
placebo
|
An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial.
|
|
aregulated
|
|
|
statespecific
|
|
|
glycopeptide
|
|
|
transformationassociated
|
|
|
substratespecific
|
|
|
expressionresulted
|
|
|
proteindeficient
|
|
|
coexistence
|
|
|
vrk2
|
vaccinia related kinase 2|This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]
|
|
npc1l1mediated
|
|
|
ischmeic
|
|
|
dcssc
|
|
|
subclinically
|
|
|
asphyxia
|
|
|
enteropathytype
|
|
|
amangostin
|
|
|
aiabca1dependent
|
|
|
gammah2ax
|
|
|
hoil1l
|
|
|
teamwork
|
|
|
hyphalinvasiondependent
|
|
|
celecoxibinduced
|
|
|
arthritisinduced
|
|
|
rs2391191
|
|
|
derp1stimulated
|
|
|
pp60csrc
|
|
|
strooptest
|
|
|
zbrk1
|
|
|
elastosis
|
|
|
procaspase10
|
|
|
pro206pro
|
|
|
abinsensitive
|
|
|
spermine
|
A polyazaalkane that is tetradecane in which the carbons at positions 1, 5, 10 and 14 are replaced by nitrogens. Spermine has broad actions on cellular metabolism.
|
|
hubf
|
|
|
carmabcl10malt
|
|
|
postchernobyl
|
|
|
h4f5
|
|
|
hubs
|
|
|
ensuing
|
|
|
microvesicle
|
|
|
rs17883901
|
|
|
hcmvinfected
|
|
|
lpaplasminogen
|
|
|
receptorkinasedependent
|
|
|
cd4h9
|
|
|
arrangements
|
|
|
serpini1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1|This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
|
|
dr4dr5
|
|
|
sequentially
|
|
|
spp1depleted
|
|
|
srcelmodock2
|
|
|
dnajc12
|
DnaJ (Hsp40) homolog, subfamily C, member 12|This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
|
diets
|
Regular course of eating and drinking adopted by a person or animal. This does not include DIET THERAPY, a specific diet prescribed in the treatment of a disease.|The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health.
|
|
imatinibresistant
|
|
|
tap63gammainduced
|
|
|
t211q11q23
|
|
|
maspinupauparbeta1
|
|
|
l1oxibeta
|
|
|
betaoxidation
|
|
|
lxrdependent
|
|
|
agressiveness
|
|
|
proteome
|
|
|
ube2d1
|
ubiquitin-conjugating enzyme E2D 1|The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
|
|
a6b1
|
|
|
dap10
|
|
|
dap12
|
|
|
disoriented
|
|
|
actinbased
|
|
|
xenoreactive
|
|
|
exceedingly
|
|
|
junctionmediated
|
|
|
comparisons
|
|
|
ddx5rna
|
|
|
posses
|
|
|
deltanp63alphahdac
|
|
|
stores
|
|
|
mutationconfirmed
|
|
|
stored
|
|
|
t609
|
|
|
localize
|
|
|
psmg1
|
proteasome (prosome, macropain) assembly chaperone 1|
|
|
taken
|
|
|
chic2
|
cysteine-rich hydrophobic domain 2|This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]
|
|
adipo
|
|
|
sulphiredoxin
|
|
|
onward
|
|
|
demographic
|
|
|
amd3100
|
|
|
magea9
|
melanoma antigen family A9|This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]
|
|
slits
|
|
|
magea3
|
melanoma antigen family A3|This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]
|
|
magea2
|
melanoma antigen family A2|This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
|
|
magea1
|
melanoma antigen family A1|This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]
|
|
magea6
|
melanoma antigen family A6|This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
|
magea4
|
melanoma antigen family A4|This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. At least four variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
resolved
|
|
|
tqinduced
|
|
|
gomafu
|
|
|
antifactor
|
|
|
phagocytophilum
|
|
|
furfur
|
|
|
mods
|
|
|
rheb1d60k
|
|
|
resolves
|
|
|
pellino1
|
|
|
pellino3
|
|
|
pellino2
|
|
|
like
|
|
|
thresholdlength
|
|
|
cellbasement
|
|
|
prps1l1
|
phosphoribosyl pyrophosphate synthetase 1-like 1|This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]
|
|
segfr
|
|
|
admitted
|
|
|
glutaminyltrna
|
|
|
chica
|
|
|
slit3
|
slit homolog 3 (Drosophila)|The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
|
|
slit2
|
slit homolog 2 (Drosophila)|
|
|
slit1
|
slit homolog 1 (Drosophila)|
|
|
leptins
|
|
|
chick
|
|
|
mthfr478
|
|
|
heptoses
|
|
|
nonvntr
|
|
|
pneumoniaetriggered
|
|
|
epithelialspecific
|
|
|
inflammasomes
|
|
|
hain
|
|
|
ligandselectivity
|
|
|
dax1shp
|
|
|
ab42
|
|
|
gab2dependent
|
|
|
mesolimbic
|
|
|
recommendation
|
|
|
bcamlulaminin
|
|
|
beta3adrenoreceptor
|
|
|
adrenocorticotropic
|
|
|
tas102
|
|
|
bri2bace1
|
|
|
caspases
|
|
|
il5induced
|
|
|
alpharesponsive
|
|
|
dysphonia
|
An impairment in the ability to produce voice sounds.
|
|
neurosin
|
|
|
msp1
|
|
|
telencephalon
|
An enlarged anterior or upper part of the brain; especially: the expanded anterior portion of the brain that in higher mammals overlies the rest of the brain, consists of cerebral hemispheres and connecting structures, and is considered to be the seat of conscious mental processes.
|
|
carboxylesterases
|
|
|
dfnb12
|
|
|
flt3itdinternal
|
|
|
isosilybin
|
|
|
israelijewish
|
|
|
pikkcontaining
|
|
|
hai2
|
|
|
seminomas
|
|
|
rs1143634
|
|
|
hai1
|
|
|
bestrophins
|
|
|
rnf146
|
ring finger protein 146|
|
|
caspase6
|
|
|
caspase7
|
|
|
caspase4
|
|
|
caspase5
|
|
|
caspase2
|
|
|
caspase3
|
|
|
caspase1
|
|
|
mspi
|
|
|
brutons
|
|
|
estrogenmimics
|
|
|
caspase8
|
|
|
caspase9
|
|
|
msps
|
|
|
hemizygously
|
|
|
pdcd6
|
programmed cell death 6|This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]
|
|
macroalbuminuric
|
|
|
pdcd4
|
programmed cell death 4 (neoplastic transformation inhibitor)|This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
|
|
introduced
|
|
|
pdcd2
|
programmed cell death 2|This gene encodes a nuclear protein expressed in a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]
|
|
nontranscribed
|
|
|
pdcd1
|
programmed cell death 1|This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008]
|
|
srlfdqffg
|
|
|
ap1mediated
|
|
|
klf8binding
|
|
|
preexisting
|
|
|
y54c
|
|
|
cellanchored
|
|
|
cctbeta
|
|
|
proteinuria
|
|
|
tcarrying
|
|
|
proteinuric
|
|
|
prehypertension
|
|
|
itih3
|
inter-alpha-trypsin inhibitor heavy chain 3|The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]
|
|
itih5
|
inter-alpha-trypsin inhibitor heavy chain family, member 5|This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
|
|
pmlnuclear
|
|
|
betacell
|
|
|
par2mapksnfkappab
|
|
|
g28c
|
|
|
mtdh
|
metadherin|
|
|
miz1
|
|
|
elastic
|
|
|
elastin
|
A component of the extracellular matrix that enables the matrix to recoil after transient stretching.
|
|
fli1
|
Fli-1 proto-oncogene, ETS transcription factor|This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
|
auxilin
|
|
|
tpaupamediated
|
|
|
vesiculoviral
|
|
|
hotspots
|
|
|
microrna24
|
|
|
microrna21
|
|
|
microrna22
|
|
|
coke
|
|
|
boneregeneration
|
The regrowth of bone following its loss or destruction.
|
|
protonsensitive
|
|
|
cd2cd58
|
|
|
expected
|
|
|
anaplasstic
|
|
|
xlp1
|
|
|
th1mediated
|
|
|
shankpostsynaptic
|
|
|
agonistbound
|
|
|
kir31kir34
|
|
|
b2g1
|
|
|
relocalisation
|
|
|
il101082g
|
|
|
flip
|
|
|
bsap
|
|
|
nondouble
|
|
|
demethylases
|
|
|
sibuprofen
|
|
|
membranal
|
|
|
bsac
|
|
|
flic
|
|
|
deltasubunit
|
|
|
andean
|
|
|
gammainduced
|
|
|
cdiamp
|
|
|
nadsyn1dhcr7
|
|
|
identities
|
|
|
arsgk3p70s6kcyclin
|
|
|
ctar2traf6tak1ikkbeta
|
|
|
antiinvasiveness
|
|
|
detail
|
|
|
aspp2dda3
|
|
|
flj34272
|
|
|
ragweed
|
|
|
transfection
|
The process of bringing about genetic alteration of any cell or organism by a variety of means including recombinant DNA technology, viruses, chemical mutagens and X-rays.
|
|
xrcc101
|
|
|
fimh
|
|
|
p53ser15p
|
|
|
ck1epsilon
|
|
|
swellinginduced
|
|
|
urpl
|
|
|
augmentation
|
|
|
lipoprostaglandin
|
|
|
dyes
|
|
|
orolaryngeal
|
|
|
t119q23p13
|
|
|
fgfr4g388r
|
|
|
gapdh
|
glyceraldehyde-3-phosphate dehydrogenase|This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
|
gastrinomas
|
|
|
ecsit
|
ECSIT signalling integrator|
|
|
alreadyreported
|
|
|
iatrogenic
|
|
|
ifih1
|
interferon induced with helicase C domain 1|DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012]
|
|
plcb3
|
phospholipase C, beta 3 (phosphatidylinositol-specific)|This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
|
|
plcb4
|
phospholipase C, beta 4|The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]
|
|
cablpkcdelta
|
|
|
cd147harboring
|
|
|
actinobacillus
|
|
|
p2yreceptors
|
|
|
idcm
|
|
|
nwc
|
|
|
appetite
|
|
|
trpv4dependent
|
|
|
carrxr
|
|
|
lysdependent
|
|
|
hspt4
|
|
|
hspt5
|
|
|
intron
|
|
|
optimization
|
|
|
k109r
|
|
|
dmalpha
|
|
|
alphaglucosidase
|
|
|
cebpapositive
|
|
|
mutagenesisscanning
|
|
|
citalopram
|
A racemate comprising equimolar amounts of (R)-citalopram and its enantiomer, escitalopram. It is used as an antidepressant, although only escitalopram is active.
|
|
pcbd1
|
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha|This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
|
vitreous
|
|
|
fragmenting
|
|
|
signalingosteoimmunology
|
|
|
caput
|
|
|
mir744directed
|
|
|
nonlangerhans
|
|
|
aktezrin
|
|
|
kiaa1033
|
KIAA1033|This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
|
|
loneliness
|
|
|
hescsdifferentiation
|
|
|
amerindian
|
|
|
highmolecularweight
|
|
|
alll1
|
|
|
diseasemodifying
|
|
|
scx
|
|
|
nonmotor
|
|
|
highconcentration
|
|
|
gametic
|
|
|
siah1siah2
|
|
|
scz
|
|
|
naip
|
NLR family, apoptosis inhibitory protein|This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
direct
|
|
|
nail
|
|
|
ca2rosmediated
|
|
|
liposarcoma
|
A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.|A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)|A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors.
|
|
bronchoalveolar
|
|
|
vesnarinone
|
|
|
diseasestate
|
|
|
nonmotile
|
|
|
sialofucosylations
|
|
|
excised
|
|
|
selected
|
|
|
tobaccoinduced
|
|
|
fatness
|
|
|
ssph2
|
|
|
xvii
|
|
|
scs
|
|
|
dynein2
|
|
|
scr
|
|
|
excises
|
|
|
dab1pi3kpkczetasp1
|
|
|
metalcatalyzed
|
|
|
aminoacidic
|
|
|
ecl
|
|
|
sofarunknown
|
|
|
becs
|
|
|
ppmt1
|
|
|
beck
|
|
|
positionindependent
|
|
|
cd133cxcr4
|
|
|
rafmekerk
|
|
|
interleukin8stat3
|
|
|
d269he195r
|
|
|
ku7
|
|
|
tgase
|
|
|
leaves
|
|
|
arinhibition
|
|
|
ile405val
|
|
|
htr3d
|
5-hydroxytryptamine (serotonin) receptor 3D, ionotropic|The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
|
|
htr3e
|
|
|
htr3b
|
5-hydroxytryptamine (serotonin) receptor 3B, ionotropic|The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011]
|
|
htr3c
|
5-hydroxytryptamine (serotonin) receptor 3C, ionotropic|The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq, Jul 2008]
|
|
htr3a
|
5-hydroxytryptamine (serotonin) receptor 3A, ionotropic|The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
|
oxpapc
|
|
|
pi3kinase
|
|
|
biometric
|
|
|
p301l
|
|
|
neovascularizaiton
|
|
|
purifying
|
|
|
lipiddependent
|
|
|
ohtahara
|
|
|
drb104
|
|
|
photounbinding
|
|
|
tremens
|
|
|
p301s
|
|
|
endurancerelated
|
|
|
oxidasegp91phox
|
|
|
dependenton
|
|
|
rhoagtpase
|
|
|
nherf12
|
|
|
af4dependent
|
|
|
tripeptidylpeptidase
|
|
|
ftldfus
|
|
|
upapai1
|
|
|
diseasecorrelation
|
|
|
qinba
|
|
|
mir3233p
|
|
|
pereclampsia
|
|
|
excellent
|
|
|
exocrine
|
|
|
hypersecretion
|
|
|
supplemental
|
|
|
ltip
|
|
|
gsk3dependent
|
|
|
sfndependent
|
|
|
statisticallysignificantly
|
|
|
rs7997012
|
|
|
dimeric
|
|
|
d1linker
|
|
|
sacroiliac
|
|
|
deficiencies
|
|
|
widdrol
|
|
|
ap2alpha
|
|
|
caspases8
|
|
|
lipidmetabolism
|
The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.
|
|
alkyladenine
|
|
|
salvage
|
|
|
caspases3
|
|
|
cdc20enabling
|
|
|
lapbeta1
|
|
|
pdgfdpdgfrbeta
|
|
|
kappab1rela
|
|
|
glycosylphosphatidylinositolanchored
|
|
|
cerebrotendinous
|
|
|
nonstructural
|
|
|
hif1alphafoxa2
|
|
|
hyperclyceic
|
|
|
unordered
|
|
|
calve
|
|
|
a53t
|
|
|
antiandrogens
|
|
|
srfmrtfadependent
|
|
|
topographical
|
|
|
abscessus
|
|
|
implicating
|
|
|
c5562ag
|
|
|
mercaptopurine
|
A member of the class of purines that is 6,7-dihydro-1H-purine carrying a thione group at position 6.
|
|
dnacontaining
|
|
|
description
|
|
|
gabaagamma
|
|
|
aresolution
|
|
|
fungemia
|
|
|
hepartocellular
|
|
|
megf9
|
|
|
apoaiapoe
|
|
|
parallel
|
|
|
fibrinogenlike
|
|
|
autoimmunitylymphoproliferation
|
|
|
cytogenetics
|
|
|
amid
|
|
|
summing
|
|
|
aerodigestive
|
|
|
interleukin10819tt
|
|
|
betamyhc
|
|
|
mastectomy
|
|
|
reforming
|
|
|
nedd4mediated
|
|
|
plxnb112sema4decto
|
|
|
disease1
|
|
|
ulcerans
|
|
|
antipodoplanin
|
|
|
crumbs
|
|
|
staining
|
|
|
machrcan
|
|
|
hipk2induced
|
|
|
hoxa1mediated
|
|
|
dyn2
|
|
|
hs578teralphaluc
|
|
|
crossethnicity
|
|
|
branchedchain
|
|
|
pkib
|
protein kinase (cAMP-dependent, catalytic) inhibitor beta|This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
|
|
protontranslocating
|
|
|
vinculintalinintegrin
|
|
|
urination
|
The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body.
|
|
gageinduced
|
|
|
unrecognized
|
|
|
mvnp
|
|
|
diseases
|
|
|
pyrosequencing
|
454 sequencing is a DNA sequencing using 454 technology from Roche, which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin.
|
|
nor1
|
|
|
cellcycle
|
The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
|
|
r335w
|
|
|
diseased
|
|
|
cognitivehyperactive
|
|
|
ilkakt12b
|
|
|
immunogen
|
|
|
rhoarock1mlcp
|
|
|
nsmase
|
|
|
uracildna
|
|
|
autoinhibition
|
|
|
akap149dakap1
|
|
|
detroit
|
|
|
equinederived
|
|
|
nfkappabsnailyy1bclxl
|
|
|
serthr
|
|
|
adductcontaining
|
|
|
jpo1cdca7
|
|
|
mdm2p53mdmx
|
|
|
serinedependent
|
|
|
neurometabolic
|
|
|
septa
|
|
|
hladr3dq2
|
|
|
cib2
|
calcium and integrin binding family member 2|The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
|
|
brcapro
|
|
|
cib1
|
calcium and integrin binding 1 (calmyrin)|This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
|
|
insufficiently
|
|
|
intraglomerular
|
|
|
mspl
|
|
|
pi3kregulated
|
|
|
selfdimerization
|
|
|
latmediated
|
|
|
dysplastic
|
|
|
synthasesinducible
|
|
|
c35
|
|
|
newly
|
|
|
c36
|
|
|
semaphorin3a
|
|
|
independence
|
|
|
semaphorin3b
|
|
|
associatd
|
|
|
inos
|
|
|
tyk2dependent
|
|
|
cypormediated
|
|
|
homologous
|
|
|
sept8
|
septin 8|This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
|
sept5
|
septin 5|This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]
|
|
sept4
|
septin 4|This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
|
|
mononuclear
|
|
|
sept6
|
septin 6|This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
|
reinstatement
|
|
|
dysferlininteracting
|
|
|
demonistraed
|
|
|
c3i
|
|
|
boxskp2
|
|
|
c3d
|
|
|
c3g
|
|
|
c3f
|
|
|
donorsite
|
|
|
endocardial
|
|
|
lysopc
|
|
|
tolerant
|
|
|
megakaryocyte
|
A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets.
|
|
citrullinemia
|
An urea cycle disorder that involves the accumulation of ammonia in the blood.
|
|
drugsensitizing
|
|
|
gnpat
|
glyceronephosphate O-acyltransferase|This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. [provided by RefSeq, Jul 2008]
|
|
lysops
|
|
|
nhe
|
|
|
nhd
|
|
|
cb1r
|
|
|
lcysteine
|
|
|
nhl
|
|
|
vinblastine
|
|
|
encouraging
|
|
|
nhk
|
|
|
muc1muc1
|
|
|
nht
|
|
|
antigp130
|
|
|
socius
|
|
|
nhp
|
|
|
nhs
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)|This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
|
|
nhr
|
|
|
mvks52nga
|
|
|
atpdependant
|
|
|
invadopodium
|
A cell projection that emerges from the ECM-facing surface of a cell, is enriched in actin and associated cytoskeletal proteins, and displays localized proteolytic activity toward the substrate.
|
|
nhz
|
|
|
selfdeclared
|
|
|
ipositive
|
|
|
kcnt1
|
|
|
acidaemia
|
|
|
pax8peroxisome
|
|
|
cemp1
|
cementum protein 1|
|
|
rs3763679
|
|
|
fructosebisphosphate
|
|
|
tumourprogression
|
|
|
mid4951
|
|
|
cb12
|
|
|
pyloriassociated
|
|
|
angiomyolipoma
|
A cell type benign neoplasm that from perivascular epithelioid cells.
|
|
nh4
|
|
|
c1orf86
|
chromosome 1 open reading frame 86|
|
|
incur
|
|
|
nh3
|
|
|
nh2
|
|
|
hrgfibrin
|
|
|
wnt3betacatenin
|
|
|
bashkortostan
|
|
|
steap4
|
STEAP family member 4|The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]
|
|
arhgap22
|
Rho GTPase activating protein 22|This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
|
|
arhgap21
|
Rho GTPase activating protein 21|ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]
|
|
fip4
|
|
|
arhgap26
|
Rho GTPase activating protein 26|Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
|
|
arhgap29
|
Rho GTPase activating protein 29|
|
|
seminal
|
|
|
tubules
|
|
|
vocal
|
|
|
efects
|
|
|
hnf4amody1
|
|
|
erk2
|
|
|
threatrelated
|
|
|
adhf
|
|
|
adhd
|
A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)
|
|
traditionally
|
|
|
thoroughly
|
|
|
dowlingmeara
|
|
|
protocadherin
|
|
|
dongxiang
|
|
|
thorough
|
|
|
has1
|
hyaluronan synthase 1|Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
|
|
targetede2apbx1
|
|
|
pi3kc2beta
|
|
|
itemplate
|
|
|
rassf
|
|
|
mdcccl22
|
|
|
foxo1dependent
|
|
|
adh3
|
|
|
adh2
|
|
|
adh1
|
|
|
agesrage
|
|
|
adh7
|
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide|This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
|
|
nrf2beta
|
|
|
adh4
|
alcohol dehydrogenase 4 (class II), pi polypeptide|This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]
|
|
oglycan
|
|
|
birthoggdube
|
|
|
moieties
|
|
|
dsrna
|
|
|
ischemiamodified
|
|
|
hmha1
|
histocompatibility (minor) HA-1|
|
|
strailr2
|
|
|
tuberalis
|
|
|
micrornamediated
|
|
|
behaviour
|
The internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.
|
|
cdh22
|
cadherin 22, type 2|This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008]
|
|
diseaseparticipants
|
|
|
pap2a
|
|
|
dystonia
|
|
|
cegfr
|
|
|
dystonic
|
|
|
pkr
|
|
|
pks
|
|
|
lsox5
|
|
|
dupv
|
|
|
dyna
|
|
|
pku
|
|
|
pkb
|
|
|
pkc
|
|
|
pgc1induced
|
|
|
pka
|
|
|
dupa
|
|
|
pkg
|
|
|
pkd
|
|
|
d2d3receptorbinding
|
|
|
analogue
|
|
|
cotransported
|
|
|
endowment
|
|
|
pkm
|
pyruvate kinase, muscle|This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011]
|
|
situations
|
|
|
hsd3beta
|
|
|
minnesota
|
|
|
vegfr2mediated
|
|
|
hematogenous
|
|
|
tropic
|
|
|
coq10forming
|
|
|
precapillary
|
|
|
pk1
|
|
|
nfkbbcl2
|
|
|
subcloned
|
|
|
vcpp97
|
|
|
ilkr211a
|
|
|
cotransporter
|
|
|
knocks
|
|
|
subclones
|
|
|
beads
|
|
|
p150sal2
|
|
|
ebvinfected
|
|
|
tigar
|
TP53 induced glycolysis regulatory phosphatase|This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008]
|
|
regulationsmurf2
|
|
|
torc12
|
|
|
tim3andor
|
|
|
mtm1
|
myotubularin 1|This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
|
|
ailments
|
|
|
ik32
|
|
|
chromoome
|
|
|
bindingchannel
|
|
|
rspondin
|
|
|
rs3212986ca
|
|
|
dopamine
|
Catechol in which the hydrogen at position 4 is substituted by a 2-aminoethyl group.
|
|
nonaa
|
|
|
twopronged
|
|
|
full
|
|
|
candian
|
|
|
qr192
|
|
|
bee
|
|
|
crafmediated
|
|
|
reinfection
|
|
|
slc52a1
|
|
|
mut
|
methylmalonyl CoA mutase|This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
|
|
slc52a3
|
|
|
muv
|
|
|
sca15
|
|
|
extraskeletal
|
|
|
sca17
|
|
|
mplmutated
|
|
|
cohabiting
|
|
|
nonad
|
|
|
sapkmediated
|
|
|
proofofconcept
|
|
|
nullgstt1
|
|
|
mud
|
|
|
mug
|
|
|
hypermutated
|
|
|
finger
|
Any of the five terminating members of the hand, a digit of the forelimb.
|
|
muc
|
|
|
hopefully
|
|
|
mum
|
|
|
mul
|
|
|
runx3binding
|
|
|
baculovirusinsect
|
|
|
reiterate
|
|
|
premalignancy
|
|
|
cah
|
|
|
traininginduced
|
|
|
her2top2a
|
|
|
hladrb4
|
|
|
hladrb5
|
|
|
hladrb3
|
|
|
hsamir1
|
|
|
hladrb1
|
|
|
ly2140023
|
|
|
noncancerous
|
|
|
mu2
|
|
|
calcitonin
|
|
|
vibration
|
|
|
tumorinvasive
|
|
|
receptoractivated
|
|
|
expense
|
|
|
nonapoeepsilon4
|
|
|
cgbp
|
|
|
crlrramp2
|
|
|
rhogtp
|
|
|
fourtyms
|
|
|
inactivate
|
|
|
catalyticallyactive
|
|
|
pakt1
|
|
|
ghigf1
|
|
|
nevogenesis
|
|
|
mitabeta
|
|
|
aromaticturmerone
|
|
|
wlymph
|
|
|
zirconia
|
|
|
phosphorylatedstat3
|
|
|
phosphorylatedstat1
|
|
|
p05659
|
|
|
nedd8
|
neural precursor cell expressed, developmentally down-regulated 8|
|
|
nedd9
|
neural precursor cell expressed, developmentally down-regulated 9|The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
|
ulbp1
|
UL16 binding protein 1|
|
|
par1mediated
|
|
|
asics
|
|
|
refutes
|
|
|
hsc70dependent
|
|
|
f537k539delinsl
|
|
|
adadeficient
|
|
|
mir5125p
|
|
|
alzheimertype
|
|
|
irreparable
|
|
|
gaginduced
|
|
|
cholesterolpoor
|
|
|
gwwg
|
|
|
lrhpv
|
|
|
atherosclerosisprone
|
|
|
uqcc2
|
|
|
ghigfi
|
|
|
natives
|
|
|
ephb2
|
EPH receptor B2|This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
|
|
ephb3
|
EPH receptor B3|Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]
|
|
ephb1
|
EPH receptor B1|Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]
|
|
ephb6
|
EPH receptor B6|This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
|
ublcp1
|
ubiquitin-like domain containing CTD phosphatase 1|
|
|
ephb4
|
EPH receptor B4|Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]
|
|
middlemolecule
|
|
|
pathologi
|
|
|
vcpubxd1
|
|
|
tresp
|
|
|
galanin
|
|
|
aneurysmdissection
|
|
|
preincubation
|
|
|
e6associated
|
|
|
e2e3
|
|
|
phpositive
|
|
|
apcl
|
|
|
apcc
|
|
|
cd4ifngammat
|
|
|
beside
|
|
|
tubulininteractive
|
|
|
amotpatjmupp1syx
|
|
|
apcr
|
|
|
apcs
|
amyloid P component, serum|The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008]
|
|
apct
|
|
|
ankylosis
|
Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
|
|
peaks
|
|
|
hyperreactive
|
|
|
mir519aand
|
|
|
addicts
|
|
|
malonyl
|
|
|
keratin8
|
|
|
rhogapindependent
|
|
|
apppositive
|
|
|
gliomaassociated
|
|
|
punctuate
|
|
|
shortly
|
|
|
membraneendoplasmic
|
|
|
aparticle
|
|
|
transplantaation
|
|
|
mir375mediated
|
|
|
isoprenylation
|
|
|
apc8
|
|
|
multistage
|
|
|
ccr2independent
|
|
|
apc2
|
adenomatosis polyposis coli 2|
|
|
apc3
|
|
|
apc1
|
|
|
proteinstimulated
|
|
|
dadp
|
A purine 2'-deoxyribonucleoside 5'-diphosphate having adenine as the nucleobase.
|
|
dads
|
|
|
apc5
|
|
|
assembling
|
|
|
graded
|
|
|
nhejmediated
|
|
|
mgatp2
|
|
|
rodent
|
|
|
judge
|
|
|
grades
|
|
|
vascularprotective
|
|
|
t174m
|
|
|
cottpl2
|
|
|
prxs
|
|
|
unc5c
|
unc-5 homolog C (C. elegans)|This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]
|
|
midg1
|
|
|
mt1mmptimp2
|
|
|
prxi
|
|
|
tyr416
|
|
|
rs1040079
|
|
|
aauaaa
|
|
|
antibodyantigen
|
|
|
bromodomainphd
|
|
|
dnp73
|
|
|
breaks
|
|
|
arhgdibeta
|
|
|
intravesicular
|
|
|
descending
|
|
|
melting
|
|
|
bistable
|
|
|
mutationdeletion
|
|
|
triplication
|
|
|
pcb126
|
|
|
classswitch
|
|
|
prx6
|
|
|
sptan1
|
spectrin, alpha, non-erythrocytic 1|Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
|
|
prx4
|
|
|
prx5
|
|
|
prx2
|
|
|
prx3
|
|
|
prx1
|
|
|
renamed
|
|
|
betaarrestins
|
|
|
iga2
|
|
|
dimorphic
|
|
|
iga1
|
|
|
sapril
|
|
|
hunchback
|
|
|
dorfinchipl
|
|
|
ldlapheresis
|
|
|
envision
|
|
|
factoralphaelicited
|
|
|
finns
|
|
|
selectivity
|
|
|
plagl2
|
pleiomorphic adenoma gene-like 2|Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008]
|
|
plagl1
|
pleiomorphic adenoma gene-like 1|This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activities. It has been shown to have anti-proliferative properties, and thus thought to function as a tumor suppressor. In addition, overexpression of this gene during fetal development is believed to underlie the rare disorder, transient neonatal diabetes mellitus (TNDM). This gene is imprinted, with preferential expression of the paternal allele in many tissues, however, biallelic expression has been noted in peripheral blood leucocytes. A recent study reports that tissue-specific imprinting results from variable utilization of monoallelic and biallelic promoters. Many transcript variants differing in the 5' UTR and encoding two different isoforms, have been found for this gene. [provided by RefSeq, Oct 2010]
|
|
bacute
|
|
|
e2induced
|
|
|
entorhinal
|
|
|
endoplasmatic
|
|
|
antiischemic
|
|
|
p0014
|
|
|
seroreactivity
|
|
|
t14
|
|
|
intraethnic
|
|
|
t17
|
|
|
t10
|
|
|
t11
|
|
|
t12
|
|
|
hydroxyurea
|
A member of the class of ureas that is urea in which one of the hydrogens is replaced by a hydroxy group. An antineoplastic used in the treatment of chronic myeloid leukaemia as well as for sickle-cell disease.
|
|
fshbinding
|
|
|
hunk
|
hormonally up-regulated Neu-associated kinase|
|
|
ricknod1
|
|
|
e75
|
|
|
flaps
|
|
|
p0010
|
|
|
unc5d
|
unc-5 homolog D (C. elegans)|
|
|
vifinduced
|
|
|
asic1
|
acid sensing (proton gated) ion channel 1|This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
|
|
kinaseactivating
|
|
|
nr2f1
|
nuclear receptor subfamily 2, group F, member 1|The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
|
|
jumonjidomain
|
|
|
nr2f2
|
nuclear receptor subfamily 2, group F, member 2|This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
|
|
betasarcoglycan
|
|
|
el3
|
|
|
pldsynthesised
|
|
|
bcl2bclxl
|
|
|
cd49e
|
|
|
cd49d
|
|
|
cd49f
|
|
|
cd49a
|
|
|
cd49c
|
|
|
attacks
|
|
|
raplrap1
|
|
|
raplrap2
|
|
|
fusionnegative
|
|
|
mitosiskaryorrhexis
|
|
|
metglu
|
|
|
shikonin
|
A naphthoquinone that has formula C16H16O5.
|
|
metgln
|
|
|
t1r
|
|
|
osteopontinc
|
|
|
hppcn
|
|
|
proteaseresistant
|
|
|
mir5093p
|
|
|
galphai12
|
|
|
galphai13
|
|
|
ahc
|
|
|
ppa
|
|
|
ahf
|
|
|
hypertensionreview
|
|
|
ppd
|
|
|
ppk
|
|
|
ohdo
|
|
|
pph
|
Catalysis of the reaction: 3-phosphonopyruvate + H(2)O = phosphate + pyruvate.
|
|
antiopsonic
|
|
|
ppm
|
|
|
fern
|
|
|
ahr
|
aryl hydrocarbon receptor|This gene encodes a ligand-activated transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Its ligands included a variety of aromatic hydrocarbons. [provided by RefSeq, Jul 2008]
|
|
his384
|
|
|
ppp
|
|
|
hey1mediated
|
|
|
fert
|
|
|
aht
|
|
|
ppt
|
|
|
ctcfbinding
|
|
|
vipas39spe39
|
|
|
bmmcs
|
|
|
treslin
|
|
|
mcs5a
|
|
|
infalpha
|
|
|
reversetranscriptase
|
|
|
sunlight
|
|
|
leptospirosis
|
A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly.
|
|
ubch5achip
|
|
|
oct4tnc
|
|
|
rs5275
|
|
|
il36rail38
|
|
|
interrelation
|
|
|
rab5a
|
RAB5A, member RAS oncogene family|
|
|
rab5c
|
RAB5C, member RAS oncogene family|Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]
|
|
rab5b
|
RAB5B, member RAS oncogene family|
|
|
rs11248060
|
|
|
ptpbl
|
|
|
coprecipitated
|
|
|
childhoodonset
|
|
|
ah2
|
|
|
pp2
|
|
|
siglec14
|
sialic acid binding Ig-like lectin 14|
|
|
siglec15
|
|
|
pp6
|
|
|
pp5
|
|
|
pp4
|
|
|
coprecipitates
|
|
|
deltaaminolevulinate
|
|
|
il6174
|
|
|
p63erg
|
|
|
attt
|
|
|
attr
|
|
|
h4k20me3
|
|
|
attg
|
|
|
fuctvii
|
|
|
permeabilization
|
|
|
elongin
|
|
|
l841m
|
|
|
dreifuss
|
|
|
nonblacks
|
|
|
p466l
|
|
|
y151
|
|
|
cjunmediated
|
|
|
hsaging
|
|
|
itgb4bp
|
|
|
limbic
|
|
|
substancep
|
|
|
enddiastolic
|
|
|
phosphoresidues
|
|
|
regime
|
|
|
b3gnt1
|
|
|
inborn
|
|
|
mesothelial
|
|
|
substances
|
|
|
u4u6
|
|
|
benzyloxycarbonylvad
|
|
|
brafv600
|
|
|
papers
|
|
|
implant
|
|
|
erosion
|
|
|
company
|
|
|
cdk1nonphosphorylatable
|
|
|
picture
|
|
|
grasps
|
|
|
chromatinassociated
|
|
|
flushes
|
|
|
hglyrs
|
|
|
rs1535045
|
|
|
parietooccipital
|
|
|
uridylation
|
|
|
beta2m
|
|
|
faster
|
|
|
vigorously
|
|
|
rhoarocklimkcofilin
|
|
|
igfals
|
insulin-like growth factor binding protein, acid labile subunit|The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
|
|
fasted
|
|
|
brafv600einduced
|
|
|
nuclei
|
|
|
beta2i
|
|
|
roi
|
|
|
rok
|
|
|
immunohistostaining
|
|
|
mir200c141
|
|
|
roc
|
|
|
rod
|
|
|
frap1
|
|
|
deliveries
|
|
|
rox
|
|
|
tank1
|
|
|
tis21
|
|
|
rop
|
|
|
functioned
|
|
|
ror
|
|
|
ros
|
|
|
plin4
|
perilipin 4|Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]
|
|
row
|
|
|
ransfected
|
|
|
inverse
|
|
|
inversa
|
|
|
nonlymphoid
|
|
|
destructionbox
|
|
|
pnpp
|
|
|
cul2vhl
|
|
|
ebaflefty
|
|
|
ultravioletb
|
|
|
pnpo
|
pyridoxamine 5'-phosphate oxidase|The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]
|
|
unc93b
|
|
|
alphasynucleinopathy
|
|
|
chemoradiation
|
|
|
etbdopamine
|
|
|
lipooxygenase
|
|
|
transfusionrelated
|
|
|
frequencies
|
|
|
fhitmediated
|
|
|
deoxycholate
|
|
|
emphasizes
|
|
|
trpc6dependent
|
|
|
edingerwestphal
|
|
|
clopidogrelinduced
|
|
|
mir499a5p
|
|
|
wntsignaling
|
|
|
beta1igfir
|
|
|
upasupar
|
|
|
emphasized
|
|
|
azd1152
|
|
|
ranolazine
|
|
|
populationtwo
|
|
|
glu298asp
|
|
|
integrinmatrix
|
|
|
threestate
|
|
|
flj11259dram
|
|
|
homeostatic
|
|
|
immunopathological
|
|
|
centromerekinetochore
|
|
|
best2
|
|
|
best1
|
bestrophin 1|This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
|
|
autoactivated
|
|
|
asmderived
|
|
|
depressivelike
|
|
|
dexxxlli
|
|
|
gp130jak
|
|
|
epau
|
|
|
caffeineinduced
|
|
|
ecdk2dependent
|
|
|
beta1integrininteracting
|
|
|
cancellous
|
|
|
transactvator
|
|
|
epac
|
|
|
rabep1
|
rabaptin, RAB GTPase binding effector protein 1|
|
|
depdc6deptor
|
|
|
dioxygenation
|
|
|
neurosecretory
|
|
|
bioconversion
|
|
|
axial
|
|
|
rs10045431
|
|
|
phosphatase
|
|
|
goes
|
|
|
mapkmsk1mnk12
|
|
|
cd34related
|
|
|
phlda1
|
pleckstrin homology-like domain, family A, member 1|This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]
|
|
phlda3
|
pleckstrin homology-like domain, family A, member 3|
|
|
vrk1vrk2
|
|
|
multidrug
|
|
|
dp5
|
|
|
cullin5rbx1
|
|
|
pharmacogeneticrelated
|
|
|
proteina8
|
|
|
charcotmarie
|
|
|
phf8
|
PHD finger protein 8|The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. Defects in this gene are a cause of mental retardation syndromic X-linked Siderius type (MRXSSD). Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
|
|
phf6
|
PHD finger protein 6|This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
|
|
proteina2
|
|
|
hemichannels
|
|
|
phf2
|
PHD finger protein 2|This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]
|
|
phf3
|
PHD finger protein 3|This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
|
phf1
|
PHD finger protein 1|This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
|
|
elersdanlose
|
|
|
alfainduced
|
|
|
cd2ap
|
CD2-associated protein|This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]
|
|
alphalbeta2
|
|
|
her2targeted
|
|
|
gpiib
|
|
|
gata1med1
|
|
|
e1l2
|
|
|
factoralpha
|
|
|
bfar
|
bifunctional apoptosis regulator|
|
|
invasiveness
|
|
|
crm1ranranbp3mediated
|
|
|
subcategory
|
|
|
problematic
|
|
|
nlrp3nlrp1
|
|
|
mir12913p
|
|
|
t1114negative
|
|
|
sirt1parp1
|
|
|
iirac1stat3
|
|
|
conjoint
|
|
|
golgitoer
|
|
|
crisis
|
|
|
bulbs
|
|
|
nb1bound
|
|
|
ftdp17
|
|
|
thegg
|
|
|
rs28362491
|
|
|
andf
|
|
|
anda
|
|
|
prec
|
|
|
thrombophilias
|
|
|
ptpsigma
|
|
|
errfi
|
|
|
pret
|
|
|
livingdonor
|
|
|
g894t
|
|
|
prep
|
prolyl endopeptidase|The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]
|
|
ands
|
|
|
ca2free
|
|
|
beta14gt1
|
|
|
p4936
|
|
|
nanos1
|
nanos homolog 1 (Drosophila)|
|
|
prejunctional
|
|
|
tgnmediated
|
|
|
shwachmandiamond
|
|
|
fuel
|
|
|
perinodular
|
|
|
cases
|
|
|
tfkappab
|
|
|
cd25negative
|
|
|
rs4646437
|
|
|
acfso
|
|
|
numararalpha
|
|
|
cadependent
|
|
|
cyp27b1
|
cytochrome P450, family 27, subfamily B, polypeptide 1|This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
|
|
ser5
|
|
|
and7
|
|
|
telomerasetoaltlike
|
|
|
and1
|
|
|
tregderived
|
|
|
invasionandor
|
|
|
pla2g4d
|
phospholipase A2, group IVD (cytosolic)|The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]
|
|
carnosus
|
|
|
il6stat3dependent
|
|
|
ctmprp
|
|
|
gpr126
|
|
|
gpr124
|
|
|
adrenomedullary
|
|
|
gpr120
|
|
|
macaca
|
|
|
ifnalphabetainducible
|
|
|
cys151
|
|
|
middleaged
|
|
|
thrombophlebitis
|
A phlebitis that results from a blood clot in the vessel.
|
|
cys112arg
|
|
|
dgkzeta
|
|
|
eif4emediated
|
|
|
arfmediated
|
|
|
mehp
|
|
|
fourth
|
|
|
schwannoma
|
A tumor of the peripheral nervous system composed of neoplastic Schwann cells. The vast majority of schwannomas follow a benign clinical course. Only rare cases associated with a malignant clinical course have been reported.|A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of well differentiated Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.|A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)|A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH).
|
|
nonself
|
|
|
plus
|
|
|
displacements
|
|
|
nformyl
|
|
|
digesting
|
|
|
smad23dvl23dependent
|
|
|
d65y
|
|
|
nucleocytoplasmatic
|
|
|
acetylationexchange
|
|
|
matalpha2
|
|
|
smokeassociated
|
|
|
rnabound
|
|
|
pyridine
|
An azaarene comprising a benzene core in which one -CH group is replaced by a nitrogen atom. It is the parent compound of the class pyridines.
|
|
myelination
|
The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
|
|
eighth
|
|
|
p300gata4
|
|
|
acetylglucosamine
|
|
|
aat
|
|
|
uimubiquitin
|
|
|
trnaile
|
|
|
sulfaterelated
|
|
|
carcinomarelated
|
|
|
micrornadirected
|
|
|
precancers
|
|
|
gria2
|
glutamate receptor, ionotropic, AMPA 2|Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]
|
|
gria3
|
glutamate receptor, ionotropic, AMPA 3|Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]
|
|
gria1
|
glutamate receptor, ionotropic, AMPA 1|Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
az95176
|
|
|
gria4
|
glutamate receptor, ionotropic, AMPA 4|Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]
|
|
hypervariable
|
|
|
heregulinmediated
|
|
|
il17e
|
Interacting selectively and non-covalently with the interleukin-17E receptor.
|
|
il17f
|
interleukin 17F|The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]
|
|
integrinindependent
|
|
|
il17a
|
interleukin 17A|The protein encoded by this gene is a proinflammatory cytokine produced by activated T cells. This cytokine regulates the activities of NF-kappaB and mitogen-activated protein kinases. This cytokine can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO). High levels of this cytokine are associated with several chronic inflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. [provided by RefSeq, Jul 2008]
|
|
il17b
|
interleukin 17B|The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. [provided by RefSeq, Jul 2008]
|
|
il17c
|
interleukin 17C|The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008]
|
|
roserkchopmediated
|
|
|
grinchgef
|
|
|
areavta
|
|
|
platform
|
|
|
oligonucleotideoligosaccharidebinding
|
|
|
kdrflk1
|
|
|
il17r
|
Combining with any member of the interleukin-17 family of cytokines and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
|
|
rag2il2rg
|
|
|
il23mediated
|
|
|
bilayerbound
|
|
|
sumf2
|
sulfatase modifying factor 2|The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
|
myxochondroid
|
|
|
importinalphaimportinbeta1ran
|
|
|
harmful
|
|
|
lightchain
|
|
|
luked
|
|
|
cdk1dependent
|
|
|
fetoprotein
|
|
|
shr
|
|
|
cbp8020dependent
|
|
|
estrogenrelated
|
|
|
arl4ainteracting
|
|
|
wolframin
|
|
|
grk5leu41
|
|
|
flavone
|
The simplest member of the class of flavones that consists of 4H-chromen-4-one bearing a phenyl substituent at position 2.
|
|
inheriting
|
|
|
ampkmtor
|
|
|
erdependent
|
|
|
sercatype
|
|
|
microstructures
|
|
|
hcginduced
|
|
|
hlaebeta2m
|
|
|
created
|
|
|
moleculare
|
|
|
microstructured
|
|
|
micb008
|
|
|
hmvecs
|
|
|
antiapoa1
|
|
|
hominoids
|
|
|
ejaculation
|
|
|
fascaspase
|
|
|
torcs
|
|
|
cilengitide
|
|
|
intestinerestricted
|
|
|
precancerous
|
|
|
adipocytespecific
|
|
|
rps26
|
ribosomal protein S26|Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
|
|
allosct
|
|
|
rps24
|
ribosomal protein S24|Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]
|
|
concur
|
|
|
rps23
|
ribosomal protein S23|Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
|
|
glun1glun3a
|
|
|
celsl
|
|
|
tensions
|
|
|
pi3kalpha
|
|
|
thickened
|
|
|
aceid
|
|
|
trpm7m6
|
|
|
l552s
|
|
|
quantitativepcr
|
|
|
shd
|
Src homology 2 domain containing transforming protein D|
|
|
nmdar1
|
|
|
she
|
Src homology 2 domain containing E|
|
|
syndome
|
|
|
existed
|
|
|
ipscs
|
|
|
ckbeta81
|
|
|
glycodelin
|
|
|
surf1
|
surfeit 1|This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]
|
|
torc1
|
A protein complex that contains at least TOR (target of rapamycin) and Raptor (regulatory-associated protein of TOR), or orthologs of, in complex with other signaling components. Mediates the phosphorylation and activation of S6K. In Saccharomyces, the complex contains Kog1p, Lst8p, Tco89p, and either Tor1p or Tor2p.
|
|
prb2p130complexes
|
|
|
curable
|
|
|
microrna15a
|
|
|
ror2rhoarock
|
|
|
navarre
|
|
|
ptecs
|
|
|
exchanger3
|
|
|
dpyd
|
dihydropyrimidine dehydrogenase|The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
|
|
gip
|
Stops, prevents or reduces the activity of any enzyme that catalyzes the hydrolysis of GTP to GDP and orthophosphate.
|
|
hemodynamically
|
|
|
cocaineactivated
|
|
|
pbx3
|
pre-B-cell leukemia homeobox 3|
|
|
kazakhs
|
|
|
nmdars
|
|
|
alpha23sialyltransferase
|
|
|
clumped
|
|
|
vif95192
|
|
|
mnt1
|
|
|
kampar
|
|
|
c238
|
|
|
t230
|
|
|
cd40lalpha
|
|
|
rab7regulated
|
|
|
virgin
|
The quality of an organism that has never been sexually active.
|
|
esevpr
|
|
|
ghrelinleptin
|
|
|
fibrinogen
|
A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds.
|
|
srp9
|
signal recognition particle 9kDa|
|
|
laptm5
|
lysosomal protein transmembrane 5|This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]
|
|
card9
|
caspase recruitment domain family, member 9|The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
|
|
card8
|
caspase recruitment domain family, member 8|The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
|
|
acromesomelic
|
|
|
osmolality
|
|
|
nyha
|
|
|
deubiquitinase
|
Catalysis of the thiol-dependent hydrolysis of a peptide bond formed by the C-terminal glycine of ubiquitin.
|
|
kappalightchainenhancer
|
|
|
smoothelin
|
|
|
metabolise
|
|
|
gefitinibresistant
|
|
|
sirnamrna
|
|
|
greenlandic
|
|
|
icbp90
|
|
|
gadd45gip1
|
growth arrest and DNA-damage-inducible, gamma interacting protein 1|This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012]
|
|
triphosphates
|
|
|
cathepsinmediated
|
|
|
sh3gl1
|
SH3-domain GRB2-like 1|This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
|
|
cd44budding
|
|
|
sh3gl2
|
SH3-domain GRB2-like 2|
|
|
cpkcbetanpkcepsilon
|
|
|
nox4p22
|
|
|
mcia
|
|
|
srpx
|
sushi-repeat containing protein, X-linked|
|
|
pon1192
|
|
|
dextrose
|
|
|
htafii20
|
|
|
cards
|
|
|
srpk
|
|
|
vestigiallike
|
|
|
nonhypertrophied
|
|
|
chromosomeassociated
|
|
|
adpactivated
|
|
|
hlaidentical
|
|
|
selfrated
|
|
|
exchanging
|
|
|
pxrrxralpha
|
|
|
gstp1codon
|
|
|
autophagosomebinding
|
|
|
t365c
|
|
|
ilbeta
|
|
|
itsn1l
|
|
|
sciences
|
|
|
epsilon
|
|
|
hyperphosphatasia
|
|
|
q172x
|
|
|
benin
|
|
|
icos
|
inducible T-cell co-stimulator|The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]
|
|
aktphosphoinositide
|
|
|
cd40mediated
|
|
|
exel0862
|
|
|
thrombincpb2doublecleaved
|
|
|
kif3b
|
kinesin family member 3B|The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008]
|
|
kif3c
|
kinesin family member 3C|
|
|
kif3a
|
kinesin family member 3A|
|
|
his48
|
|
|
glycosides
|
|
|
nucleolus
|
A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
|
|
cotransporting
|
|
|
rpa32
|
|
|
ngr1
|
|
|
adrenals
|
|
|
docosahexaenoate
|
|
|
pores
|
|
|
acecough
|
|
|
lymphoblastbased
|
|
|
vldltg
|
|
|
slc1a4
|
solute carrier family 1 (glutamate/neutral amino acid transporter), member 4|
|
|
slc1a5
|
solute carrier family 1 (neutral amino acid transporter), member 5|The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]
|
|
slc1a6
|
solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6|
|
|
slc1a1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1|This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]
|
|
slc1a2
|
solute carrier family 1 (glial high affinity glutamate transporter), member 2|This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Sep 2010]
|
|
slc1a3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3|This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
|
|
drastically
|
|
|
spaced
|
|
|
hsamir30b
|
|
|
hsamir30c
|
|
|
ube2r1
|
|
|
tki
|
|
|
spacer
|
|
|
ser216
|
|
|
tks
|
|
|
differentiatedtype
|
|
|
c722t
|
|
|
arf6acap1
|
|
|
ces1deficient
|
|
|
errfi1
|
ERBB receptor feedback inhibitor 1|ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]
|
|
hs1bp3
|
HCLS1 binding protein 3|The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]
|
|
homologs
|
|
|
quiescence
|
A specialized resting state that cells enter in response to cues from the cell's environment. Quiescence is characterized by the absence of cell growth and division, by a reprogramming of global gene expression, and by changes characteristic of the organism and specific cell type. Depending on external conditions, quiescence may persist until cell death or cells may resume cell growth and division. In some cell types or under certain conditions, cellular metabolism may proceed.
|
|
aa2m
|
|
|
xpg
|
|
|
telocytes
|
|
|
dup1q
|
|
|
p15mts2
|
|
|
cd47dependent
|
|
|
sel1l
|
sel-1 suppressor of lin-12-like (C. elegans)|The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
|
neep21
|
|
|
tbc1d15
|
TBC1 domain family, member 15|This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
|
|
broadest
|
|
|
alphambeta2gpibalpha
|
|
|
signi
|
|
|
tk6
|
|
|
tk2
|
|
|
tk1
|
thymidine kinase 1, soluble|
|
|
acdk12
|
|
|
hhep1
|
|
|
gp120v3
|
|
|
eosinophils
|
|
|
organellespecific
|
|
|
homolog1
|
|
|
homolog2
|
|
|
grx3
|
|
|
lats12
|
|
|
grx1
|
|
|
predicted
|
|
|
grx5
|
|
|
dauricine
|
A member of the class of isoquinolines resulting from the formal oxidative dimerisation of 4-{[(1R)-6,7-dimethoxy-2-methyl-1,2,3,4-tetrahydroisoquinolin-1-yl]methyl}phenol by attachment of the phenolic oxygen of one molecule to the benzene ring of the second (ortho to the phenolic hydroxy group of the latter).
|
|
sidepopulation
|
|
|
ptenindependent
|
|
|
ocsc
|
|
|
sbp2
|
|
|
g1213
|
|
|
tc21
|
|
|
xenogeneic
|
|
|
mir545
|
microRNA 545|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
mir543
|
microRNA 543|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
mir542
|
|
|
mir541
|
microRNA 541|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
cd103
|
|
|
cd100
|
|
|
cd107
|
|
|
ankylosing
|
|
|
cd105
|
|
|
managing
|
|
|
acheron
|
|
|
cd109
|
CD109 molecule|This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
|
|
clhexchange
|
|
|
proximities
|
|
|
afatinib
|
A quinazoline compound having a 3-chloro-4-fluoroanilino group at the 4-position, a 4-dimethylamino-trans-but-2-enamido group at the 6-position, and an (S)-tetrahydrofuran-3-yloxy group at the 7-position. Used (as its dimaleate salt) for the first-line treatment of patients with metastatic non-small cell lung cancer.
|
|
nonosteogenic
|
|
|
atg7caspase9
|
|
|
hsamir3693p
|
|
|
crookes
|
|
|
dextran
|
|
|
taos1
|
|
|
cellth1
|
|
|
t874a
|
|
|
uptodate
|
|
|
nonadducted
|
|
|
hcvinfected
|
|
|
amnionless
|
|
|
pleckstrinhomology
|
|
|
eosinophildriven
|
|
|
libya
|
|
|
srcpdgfrbetask1
|
|
|
peptidoglycan
|
A glycosaminoglycan formed by alternating residues of D-glucosamine and either muramic acid {2-amino-3-O-[(S)-1-carboxyethyl]-2-deoxy-D-glucose} or L-talosaminuronic acid (2-amino-2-deoxy-L-taluronic acid), which are usually N-acetylated or N-glycoloylated. The carboxyl group of the muramic acid is commonly substituted by a peptide containing residues of both L- and D-amino acids, whereas that of L-talosaminuronic acid is substituted by a peptide consisting of L-amino acids only.
|
|
mir31fih1
|
|
|
estrogentriggered
|
|
|
mst3ndrp21
|
|
|
amenability
|
|
|
ubiad1
|
UbiA prenyltransferase domain containing 1|This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
|
|
period
|
|
|
proteinassociated
|
|
|
stroking
|
|
|
turkey
|
|
|
aphtous
|
|
|
hpip
|
|
|
fructosamine3kinase
|
|
|
hes1dependent
|
|
|
vmd2l3
|
|
|
vmd2l2
|
|
|
vmd2l1
|
|
|
alphaadducin
|
|
|
peaking
|
|
|
ifnalphastimulated
|
|
|
direction
|
|
|
timp2genes
|
|
|
vprinduced
|
|
|
cd44cd24low
|
|
|
hdllppla2
|
|
|
acyclovir
|
An oxopurine that is guanine substituted by a (2-hydroxyethoxy)methyl substituent at position 9.
|
|
hemeproteins
|
|
|
case
|
|
|
loopan
|
|
|
casl
|
|
|
cask
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)|This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
|
|
cast
|
calpastatin|The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
|
|
ureteric
|
|
|
casp
|
|
|
casr
|
calcium-sensing receptor|The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008]
|
|
irrespective
|
|
|
secondline
|
|
|
stabilising
|
|
|
rs12410453
|
|
|
angiotensinogen
|
|
|
nonhomotypic
|
|
|
kostmann
|
|
|
hibecs
|
|
|
heritabilities
|
|
|
jambjamc
|
|
|
fluidderived
|
|
|
substrate1phosphatidylinositol
|
|
|
participant
|
|
|
author
|
|
|
exchangein
|
|
|
reshape
|
|
|
wrpw
|
|
|
granulephagosome
|
|
|
hbxinduced
|
|
|
bcra1
|
|
|
ipopolysaccharideinduced
|
|
|
deglycanated
|
|
|
status
|
|
|
cargoloaded
|
|
|
biomaker
|
|
|
gi2protein
|
|
|
cul1rbx1skp1f
|
|
|
autografts
|
|
|
tal1expressing
|
|
|
pdcd10serpini1
|
|
|
ckii
|
|
|
changesin
|
|
|
omannosylation
|
|
|
pax8pparg
|
|
|
borisctcf
|
|
|
ha22tvgh
|
|
|
ckis
|
|
|
rs3792783
|
|
|
selftolerant
|
|
|
bodies
|
|
|
justify
|
|
|
py402h
|
|
|
fibrilassociated
|
|
|
mlleenmediated
|
|
|
cd14hladrlow
|
|
|
glepp1
|
|
|
lipid
|
'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids.
|
|
spliced
|
|
|
cease
|
|
|
formoterol
|
|
|
rs4646536
|
|
|
polish
|
|
|
univariate
|
|
|
dot1aaf9mediated
|
|
|
sirnatransfected
|
|
|
favouring
|
|
|
hexosamine
|
|
|
isoflavone
|
|
|
thrombotic
|
|
|
twobasepair
|
|
|
det1
|
de-etiolated homolog 1 (Arabidopsis)|
|
|
b19v
|
|
|
providesinformation
|
|
|
substition
|
|
|
adiponectintcadherin
|
|
|
wnk1osr1nkcc1
|
|
|
electrolytes
|
|
|
steroid5areductase
|
|
|
cyp2a6
|
cytochrome P450, family 2, subfamily A, polypeptide 6|This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]
|
|
lactoferrins
|
|
|
acute
|
|
|
rggrxr
|
|
|
glomerulopathies
|
|
|
h63d
|
|
|
a39r
|
|
|
bmyb
|
|
|
cosegregating
|
|
|
proteintradd
|
|
|
hdlgdependent
|
|
|
neurologic
|
|
|
pirinnfkappab
|
|
|
nmmiia
|
|
|
rs340833
|
|
|
hspb4hspb5
|
|
|
exra
|
|
|
brainbehavior
|
|
|
genedomain
|
|
|
ncorinduced
|
|
|
describes
|
|
|
dice1
|
|
|
bubr1
|
|
|
warranting
|
|
|
p15rs
|
|
|
siglec8induced
|
|
|
rnf185
|
ring finger protein 185|
|
|
atmchk2
|
|
|
atmchk1
|
|
|
wgcwwrc
|
|
|
hladpb1
|
|
|
homozygosis
|
|
|
hydroxylasedependent
|
|
|
bayesian
|
|
|
methamphetamine
|
A member of the class of amphetamines in which the amino group of (S)-amphetamine carries a methyl substituent.
|
|
sumo2
|
small ubiquitin-like modifier 2|This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
|
filgap
|
|
|
gxii
|
|
|
factorfactor
|
|
|
tceb1
|
transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)|This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
|
|
fusebinding
|
|
|
rnf180
|
ring finger protein 180|
|
|
il12ril23r
|
|
|
dicer
|
|
|
mir1265p
|
|
|
receptorcd3
|
|
|
trypsinlike
|
|
|
nonbak
|
|
|
rhogdialpha
|
|
|
tumorbearing
|
|
|
deafwaddler
|
|
|
col4a3col4a4
|
|
|
adamts
|
|
|
phasespecific
|
|
|
ridges
|
|
|
interfacing
|
|
|
gammahuman
|
|
|
bcdc2
|
|
|
lgr5rspo1
|
|
|
rising
|
|
|
discharge
|
|
|
fibronection
|
|
|
ehs
|
|
|
giprotein
|
|
|
memorydiscrepant
|
|
|
fusicoccin
|
An acetate ester that has formula C36H56O12.
|
|
cultured
|
|
|
ehf
|
ets homologous factor|This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
|
|
ehd
|
|
|
ehe
|
|
|
rme1
|
|
|
cultures
|
|
|
piroxicam
|
A monocarboxylic acid amide resulting from the formal condensation of the carboxy group of 4-hydroxy-2-methyl-2H-1,2-benzothiazine-3-carboxylic acid 1,1-dioxide with the exocyclic nitrogen of 2-aminopyridine.
|
|
ehk
|
|
|
sialoglycoproteins
|
|
|
noa36znf330
|
|
|
maged4
|
melanoma antigen family D4|
|
|
abmediated
|
|
|
mllsept6
|
|
|
pentapeptide
|
|
|
mllsept2
|
|
|
hutu
|
|
|
mllsept9
|
|
|
endoglinmediated
|
|
|
p130p107p105rb
|
|
|
eh4
|
|
|
herpesviruses
|
|
|
eh3
|
|
|
t13910
|
|
|
sirt1p53
|
|
|
desmoidtype
|
|
|
mallory
|
|
|
autoimmune
|
|
|
trep132
|
|
|
dysf
|
dysferlin|The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
|
|
cisplatinresistance
|
|
|
spnk1
|
|
|
ssri
|
|
|
sanguinarinemediated
|
|
|
reninexpressing
|
|
|
rac2p29l
|
|
|
beta1receptor
|
|
|
il4il4r
|
|
|
hiroverexpressing
|
|
|
agstimulated
|
|
|
deserve
|
|
|
cbfa2
|
|
|
cellscancerinitiating
|
|
|
preosteocyte
|
|
|
acidmediated
|
|
|
ammation
|
|
|
zeb1high
|
|
|
thr286ccnd1
|
|
|
dendrofalconerol
|
|
|
immunity
|
|
|
deviation
|
|
|
perfluorooctane
|
|
|
dermatan
|
A mucopolysaccharide consisting of repeating beta-(1->4)-linked L-iduronyl-(beta1->3)-N-acetyl-D-galactosamine units.
|
|
adenosineelicited
|
|
|
ssr1
|
signal sequence receptor, alpha|The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
|
|
attentional
|
|
|
steroidinduced
|
|
|
cebpatf4containing
|
|
|
calciumloaded
|
|
|
i60g
|
|
|
cremactmediated
|
|
|
earlyageofdiagnosis
|
|
|
inlbmediated
|
|
|
conjunctivochalasis
|
|
|
lcfas
|
|
|
dock180elmo
|
|
|
plumbagin
|
A naphthoquinone that is 1,4-naphthoquinone in which the hydrogens at positions 2 and 5 are substituted by methyl and hydroxy groups, respectively.
|
|
mxi1leg
|
|
|
moleculerelateddownregulated
|
|
|
lofgren
|
|
|
generalize
|
|
|
diffn
|
|
|
habp1p32gc1qr
|
|
|
ploidy
|
The number of single sets of chromosomes in the cell or an organism e.g., haploid, diploid, triploid, etc.
|
|
decisions
|
|
|
oxytocinase
|
|
|
cpg18
|
|
|
igf1rpdk1
|
|
|
rs735555
|
|
|
parcsgpn3
|
|
|
brca2rad51dependent
|
|
|
cpg15
|
|
|
rs7754840
|
|
|
pai1upa
|
|
|
conditionsin
|
|
|
egyptian
|
|
|
dcr3neutralizes
|
|
|
prognostication
|
|
|
vspecific
|
|
|
krasmutant
|
|
|
hyperglycosylation
|
|
|
hcvjfh1infected
|
|
|
treating
|
|
|
opisthorchiasisrelated
|
|
|
receptorreceptor
|
|
|
crossovers
|
|
|
apoptosomal
|
|
|
cascading
|
|
|
promoterluciferase
|
|
|
dorsomorphin
|
A pyrazolopyrimidine that is pyrazolo[1,5-a]pyrimidine which is substituted at positions 3 and 6 by pyridin-4-yl and p-[2-(piperidin-1-yl)ethoxy]phenyl groups, respectively. It is a potent, selective, reversible, and ATP-competitive inhibitor of AMPK (AMP-activated protein kinase, EC 2.7.11.31) and a selective inhibitor of bone morphogenetic protein (BMP) signaling.
|
|
nicotinamide
|
A pyridinecarboxamide that is pyridine in which the hydrogen at position 3 is replaced by a carboxamide group.
|
|
il17induced
|
|
|
nfkappabeta
|
|
|
neurod1beta2
|
|
|
employing
|
|
|
crf1rucn1
|
|
|
rpr206252
|
|
|
betathromboglobulin
|
|
|
cmycand
|
|
|
gammagcs
|
|
|
datashow
|
|
|
keratotic
|
|
|
pgk2
|
phosphoglycerate kinase 2|This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010]
|
|
vhldeficient
|
|
|
pgk1
|
phosphoglycerate kinase 1|The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]
|
|
ctla4ig
|
|
|
sud
|
|
|
sub
|
|
|
sua
|
|
|
sun
|
|
|
sum
|
|
|
sul
|
|
|
ssessed
|
|
|
sui
|
|
|
suh
|
|
|
suv
|
|
|
sur
|
|
|
toes
|
|
|
obligately
|
|
|
exerciseheat
|
|
|
rs1004467
|
|
|
hccsinduced
|
|
|
dgcr8mediated
|
|
|
deacetylating
|
|
|
mosaicism
|
|
|
kiaa1110
|
|
|
equations
|
|
|
hnanos1
|
|
|
highfunctioning
|
|
|
demethylates
|
|
|
pthresponsive
|
|
|
hypoxiainhibited
|
|
|
amplicondriven
|
|
|
sixaminoacid
|
|
|
demethylated
|
|
|
exited
|
|
|
actincontaining
|
|
|
cataract
|
Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)
|
|
lysates
|
|
|
pgdfcc
|
|
|
zlsaffected
|
|
|
cancerrelevant
|
|
|
cysteines
|
|
|
p110gamma
|
|
|
highintensity
|
|
|
knockdownderived
|
|
|
timp1mediates
|
|
|
carbonylation
|
|
|
done
|
|
|
vascularity
|
|
|
gemifloxacin
|
|
|
charge
|
|
|
jj012
|
|
|
alpha1ars
|
|
|
cytokineproteinase
|
|
|
grafts
|
|
|
vecadherindependent
|
|
|
necrotising
|
|
|
israel
|
|
|
neuron
|
A grayish or reddish granular cell with specialized processes that is the fundamental functional unit of nervous tissue.
|
|
orthosteric
|
|
|
speciesatmp53
|
|
|
tardive
|
|
|
acetylationphosphorylation
|
|
|
cd222
|
|
|
rs2239680
|
|
|
antibiotics
|
|
|
cd221
|
|
|
cd226
|
CD226 molecule|This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
|
cd227
|
|
|
csge
|
|
|
sp1dependent
|
|
|
dnapositive
|
|
|
discordance
|
|
|
aireregulated
|
|
|
nevusassociated
|
|
|
phosphateactivated
|
|
|
ubiquitylationdependent
|
|
|
rs1001179
|
|
|
iggic
|
|
|
spearman
|
|
|
endotheliumindependent
|
|
|
conspire
|
|
|
osmosensing
|
|
|
microrna101
|
|
|
gtpasemediated
|
|
|
tbettim3
|
|
|
transmembranespanning
|
|
|
nrf2ho1
|
|
|
federation
|
|
|
zmynd8
|
zinc finger, MYND-type containing 8|The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
nfkappabp65
|
|
|
walkerwarburg
|
|
|
vsmcs
|
|
|
occasionally
|
|
|
noninvasive
|
|
|
fsl1
|
|
|
lys382
|
|
|
childhoodjuvenileonset
|
|
|
androgenmodulated
|
|
|
ubpex5
|
|
|
protein2a
|
|
|
cargoselective
|
|
|
nongcb
|
|
|
biophysics
|
|
|
igf1ppp3r1
|
|
|
cadmium
|
|
|
alphathal1
|
|
|
ironman
|
|
|
zincfinger
|
|
|
concentrating
|
|
|
codependently
|
|
|
nr4a2
|
nuclear receptor subfamily 4, group A, member 2|This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
|
nr4a3
|
nuclear receptor subfamily 4, group A, member 3|This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
|
|
meticulous
|
|
|
g605t
|
|
|
monocyes
|
|
|
actintropomyosin
|
|
|
cardiomyocyterestricted
|
|
|
hemangiopericytomas
|
|
|
mutationinduced
|
|
|
oligodendrocytic
|
|
|
vegfr3dependent
|
|
|
immunofluorescent
|
|
|
mdm2tp53
|
|
|
isnt
|
|
|
nkg2e
|
|
|
nkg2d
|
|
|
nkg2c
|
|
|
nkg2a
|
|
|
c182dela
|
|
|
rag7mer
|
|
|
tafia
|
|
|
alphavbeta3igfigf1r
|
|
|
ecli
|
|
|
muc5ac
|
mucin 5AC, oligomeric mucus/gel-forming|
|
|
soccer
|
|
|
amldc
|
|
|
corefucosylation
|
|
|
premetastatic
|
|
|
b270505
|
|
|
preservation
|
|
|
monocytecsf
|
|
|
atf
|
|
|
ivs32tc
|
|
|
vcpdependent
|
|
|
algerian
|
|
|
cd40lexpressing
|
|
|
angiiat1
|
|
|
ecl1
|
|
|
cd68positive
|
|
|
ecl3
|
|
|
abnormalization
|
|
|
multiform
|
|
|
upd
|
|
|
mllaff1
|
|
|
accommodated
|
|
|
atg
|
|
|
dimeroligomer
|
|
|
tissueurinary
|
|
|
ryr2
|
ryanodine receptor 2 (cardiac)|This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
|
|
hssb1
|
|
|
hssb2
|
|
|
cgamp
|
|
|
egfmediated
|
|
|
flavocetina
|
|
|
hlaa0101
|
|
|
apoptosome
|
A multisubunit protein complex involved in the signaling phase of the apoptotic process. In mammals it is typically composed of seven Apaf-1 subunits bound to cytochrome c and caspase-9. A similar complex to promote apoptosis is formed from homologous gene products in other eukaryotic organisms.
|
|
loops
|
|
|
cance
|
|
|
lffe3induced
|
|
|
dysplasiacardiomypath
|
|
|
sumo23modified
|
|
|
hili
|
|
|
enos
|
|
|
hill
|
|
|
axlnegative
|
|
|
lamino
|
|
|
thiopurines
|
|
|
alarmin
|
|
|
etv6ncoa2
|
|
|
sgefrhog
|
|
|
lamina
|
|
|
h6pdh
|
|
|
krit1depleted
|
|
|
genotyperelated
|
|
|
loop1
|
|
|
rs361525
|
|
|
lamins
|
|
|
echdc1
|
ethylmalonyl-CoA decarboxylase 1|
|
|
preincubated
|
|
|
antigenic
|
|
|
sertolileydig
|
|
|
maltirap
|
|
|
multicenter
|
|
|
tab2traf6tak1
|
|
|
tcdb
|
|
|
tcda
|
|
|
hil6
|
|
|
massforming
|
|
|
dap12trem2
|
|
|
mdl1
|
|
|
icam1vcam1
|
|
|
metaanalytical
|
|
|
emerinrepressor
|
|
|
cebpb
|
CCAAT/enhancer binding protein (C/EBP), beta|This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013]
|
|
extraosseous
|
|
|
cpgmethylation
|
|
|
translocon
|
|
|
gnb1l
|
guanine nucleotide binding protein (G protein), beta polypeptide 1-like|This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]
|
|
misprocessing
|
|
|
cebpg
|
CCAAT/enhancer binding protein (C/EBP), gamma|The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011]
|
|
distributive
|
|
|
lamb3
|
laminin, beta 3|The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
invades
|
|
|
gpl
|
|
|
cdl4a
|
|
|
gpi
|
glucose-6-phosphate isomerase|This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phophsate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
|
gpd
|
|
|
automobile
|
|
|
indole3carbinol
|
|
|
reentrant
|
|
|
gpc
|
|
|
matastasis
|
|
|
factoralphatriggered
|
|
|
gpx
|
|
|
hlaa9
|
|
|
storm
|
|
|
gpt
|
glutamic-pyruvate transaminase (alanine aminotransferase)|This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]
|
|
leptinstimulated
|
|
|
gpv
|
|
|
oncomir372373
|
|
|
gpp
|
|
|
gpr
|
|
|
th1433gamma
|
|
|
fyvecent
|
|
|
interferonassociated
|
|
|
retinae
|
|
|
retinal
|
An enal that consists of 3,7-dimethyl-9-nona-2,4,6,8-tetraenal (double bond geometry unspecified) carrying a 2,6,6-trimethylcyclohex-1-en-1-yl group at the 9-position.
|
|
alumina
|
|
|
retinas
|
|
|
periodontitisaffected
|
|
|
essays
|
|
|
mda5mediated
|
|
|
neuropathic
|
|
|
kind
|
|
|
ldlreceptor
|
Combining with a low-density lipoprotein particle and delivering the low-density lipoprotein into the cell via endocytosis.
|
|
proenkephalin
|
|
|
poxinduced
|
|
|
k562mica41bblil15
|
|
|
itga11
|
integrin, alpha 11|This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]
|
|
gp9
|
glycoprotein IX (platelet)|This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]
|
|
hepatocytemediated
|
|
|
gp6
|
glycoprotein VI (platelet)|This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
|
etv6mds2
|
|
|
gp1
|
|
|
gp2
|
glycoprotein 2 (zymogen granule membrane)|This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded protein binds pathogens such as enterobacteria, thereby playing an important role in the innate immune response. The C-terminus of this protein is related to the C-terminus of the protein encoded by the neighboring gene, uromodulin (UMOD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
|
osteoporotic
|
|
|
motivation
|
|
|
srcpi3kaktdependent
|
|
|
bud13
|
BUD13 homolog (S. cerevisiae)|
|
|
localregional
|
|
|
mthfra1298c
|
|
|
proteinsehd1
|
|
|
mesoderm
|
Middle of the three germ layers, gives rise to the musculoskeletal, blood, vascular and urinogenital systems, to connective tissue (including that of dermis) and contributes to some glands.
|
|
rs10490924htra1
|
|
|
tox3
|
|
|
tox2
|
TOX high mobility group box family member 2|
|
|
tox1
|
|
|
ala288ser
|
|
|
hsp70nef
|
|
|
mkk4jnkcjun
|
|
|
smallpox
|
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk.
|
|
pigstp1
|
|
|
nucleosome
|
A complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures.
|
|
hsamir
|
|
|
humanize
|
|
|
genetically
|
|
|
il17associated
|
|
|
btbkelch
|
|
|
gill
|
A paired respiratory organ in fishes consisting of gill filaments on the gill arch in the posterior portion of the head and usually providing the primary exchange of gases between the blood and the surrounding water.
|
|
gilz1
|
|
|
melanocortin
|
|
|
avsd
|
|
|
customize
|
|
|
tripalmitoyl
|
|
|
impacting
|
|
|
gilz
|
|
|
shrew1
|
|
|
highglucoseinduced
|
|
|
probabilistic
|
|
|
hyperrecombination
|
|
|
mocs3
|
molybdenum cofactor synthesis 3|Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]
|
|
cobra1
|
|
|
codistributes
|
|
|
keratolytic
|
|
|
mullerian
|
|
|
rap55
|
|
|
codistributed
|
|
|
chrna5
|
cholinergic receptor, nicotinic, alpha 5 (neuronal)|The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
|
|
chrna6
|
|
|
hlab44
|
|
|
chrna1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)|The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]
|
|
chrna2
|
cholinergic receptor, nicotinic, alpha 2 (neuronal)|Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]
|
|
chrna3
|
cholinergic receptor, nicotinic, alpha 3 (neuronal)|This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
|
|
med24containing
|
|
|
indomethacin
|
|
|
lying
|
|
|
bpoz2
|
|
|
splicingregulatory
|
|
|
nonserrated
|
|
|
abin1
|
|
|
abin3
|
|
|
abin2
|
|
|
ghsecreting
|
|
|
stat5raralpha
|
|
|
udpglucuronosyltransferase
|
|
|
isg15dependent
|
|
|
tdarpp
|
|
|
mllset
|
|
|
deadhesive
|
|
|
glucosemediated
|
|
|
imrna
|
|
|
r471c
|
|
|
protofibril
|
|
|
girdin
|
|
|
triphosphate
|
|
|
hcvne
|
|
|
iej
|
|
|
athabascanspeaking
|
|
|
dsrnadependent
|
|
|
iec
|
|
|
tubual
|
|
|
alphabetamediated
|
|
|
get5ubl4a
|
|
|
founding
|
|
|
bradykinin
|
A linear nonapeptide messenger belonging to the kinin group of proteins, with amino acid sequence RPPGFSPFR. Enzymatically produced from kallidin in the blood, it is a powerful vasodilator that causes smooth muscle contraction, and may mediate inflammation.
|
|
invoke
|
|
|
p120ctnkaiso
|
|
|
cta1
|
|
|
nonacetylated
|
|
|
contextual
|
|
|
ie1
|
|
|
ie2
|
|
|
sodiuminduced
|
|
|
adam17controlled
|
|
|
klf5dependent
|
|
|
ebvencoded
|
|
|
xenografts
|
Transplantation between animals of different species.
|
|
hek2
|
|
|
doublehelical
|
|
|
mir200family
|
|
|
il23r1142ag
|
|
|
f508cftr
|
|
|
visualize
|
|
|
templateprimer
|
|
|
integrasedependent
|
|
|
znf598
|
zinc finger protein 598|Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 2012]
|
|
metabolomic
|
|
|
prlprlr
|
|
|
histones
|
|
|
tubelike
|
|
|
auriculocondylar
|
|
|
mtorp70s6kinase
|
|
|
attention
|
|
|
rs5998557
|
|
|
fgr
|
FGR proto-oncogene, Src family tyrosine kinase|This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
|
|
nkg2dmic
|
|
|
fgn
|
|
|
neurodegeneration
|
a retrogressive impairment of function or destruction of neural tissue
|
|
ccr5cxcr4
|
|
|
imp
|
Protease complex of the mitochondrial inner membrane, consisting of at least two subunits, involved in processing of both nuclear- and mitochondrially-encoded proteins targeted to the intermembrane space.
|
|
fatality
|
|
|
substituition
|
|
|
fge
|
|
|
fgf
|
|
|
fgg
|
fibrinogen gamma chain|The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
|
dectin1induced
|
|
|
fga
|
fibrinogen alpha chain|The protein encoded by this gene is the alpha component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in two isoforms which vary in the carboxy-terminus. [provided by RefSeq, Jul 2008]
|
|
fgb
|
fibrinogen beta chain|The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
|
|
radioprotection
|
|
|
beta1arg389
|
|
|
shp2induced
|
|
|
leucotriene
|
|
|
gstm1ve
|
|
|
adnrf2
|
|
|
histone3
|
|
|
quinolones
|
|
|
grbscfvmel
|
|
|
distress
|
|
|
mr1restricted
|
|
|
fibrogenesis
|
|
|
preproteins
|
|
|
crebap1
|
|
|
ndufa12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12|This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
|
|
p53mutated
|
|
|
b56gammaprotein
|
|
|
simulted
|
|
|
hivuninfected
|
|
|
p0672
|
|
|
p37p47
|
|
|
c1galt1vc
|
|
|
coevolved
|
|
|
aktbetacateninsnail
|
|
|
ly49
|
|
|
synergically
|
|
|
rasmutated
|
|
|
flight
|
Self-propelled movement of an organism from one location to another through the air, usually by means of active wing movement.
|
|
algeria
|
|
|
pharmacokineticspharmacodynamics
|
|
|
slc6a45httlpr
|
|
|
fkbp
|
|
|
aspirinexacerbated
|
|
|
plasmas
|
|
|
helminth
|
|
|
rs1801275
|
|
|
rs1801274
|
|
|
peptideaffinity
|
|
|
hmbox1
|
homeobox containing 1|
|
|
proinflammatorycytokines
|
|
|
indefinitely
|
|
|
deathrelated
|
|
|
euthymic
|
|
|
hivdisease
|
|
|
phosphatidylinositol3s6
|
|
|
chl1
|
|
|
c677tt
|
|
|
shortened
|
|
|
styx
|
serine/threonine/tyrosine interacting protein|The protein encoded by this gene is a pseudophosphatase, able to bind potential substrates but lacking an active catalytic loop. The encoded protein may be involved in spermiogenesis. Two transcript variants encoding the same protein have been found for these genes. [provided by RefSeq, Oct 2011]
|
|
rs1271572
|
|
|
rs8176785
|
|
|
automodification
|
|
|
nedd8s
|
|
|
erythematosusassociated
|
|
|
hiwi
|
|
|
anhidrosis
|
OMIM mapping confirmed by DO. [SN].
|
|
p38p53wip1
|
|
|
photoninduced
|
|
|
ikkmediated
|
|
|
pitthopkinslike
|
|
|
g129vhprl
|
|
|
nkcc1
|
|
|
daughters
|
|
|
higher
|
|
|
crabpi
|
|
|
deafnessdystonia
|
|
|
goodquality
|
|
|
activationinactivation
|
|
|
restrains
|
|
|
rceptor
|
|
|
demarcates
|
|
|
noticeably
|
|
|
ppars
|
|
|
tetraspanininduced
|
|
|
nonstimulated
|
|
|
coretap1
|
|
|
histologygrade
|
|
|
megakaryocyteerythroid
|
|
|
magnified
|
|
|
fatp
|
|
|
machinery
|
|
|
magnifies
|
|
|
inihibition
|
|
|
nonmodified
|
|
|
seizuredependent
|
|
|
endostatininduced
|
|
|
cholangiocarcinoma
|
|
|
phosphoinositol
|
|
|
mbpspecific
|
|
|
impalpha
|
|
|
apoptoticinhibitory
|
|
|
comprehensively
|
|
|
turbulence
|
|
|
patem
|
|
|
lamc2col4a1
|
|
|
dj1rack1
|
|
|
eif2brelated
|
|
|
parvb
|
parvin, beta|This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
|
|
pparg
|
peroxisome proliferator-activated receptor gamma|This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
|
|
treacle
|
|
|
recognizing
|
|
|
egfrvav2rac1
|
|
|
mib1positive
|
|
|
cesarean
|
|
|
hsii
|
|
|
vasodilatory
|
|
|
delta32
|
|
|
acnes
|
|
|
discriminators
|
|
|
rs5743810
|
|
|
intradomain
|
|
|
myelodysplatic
|
|
|
cinnamic
|
|
|
organellar
|
|
|
ptrf
|
polymerase I and transcript release factor|This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
|
|
antigenhuman
|
|
|
herc2catalyzed
|
|
|
macromolecular
|
|
|
phosphatase1c
|
|
|
alcoholrelated
|
|
|
tbrachyury
|
|
|
teif
|
|
|
deltanp63alpha
|
|
|
selp
|
selectin P (granule membrane protein 140kDa, antigen CD62)|This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]
|
|
tein
|
|
|
separately
|
|
|
lxxll
|
|
|
deleterious
|
|
|
exploiting
|
|
|
phosphorb
|
|
|
nat1
|
N-acetyltransferase 1 (arylamine N-acetyltransferase)|This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
|
eif4eeif4g
|
|
|
cftrnherf1ezrinactin
|
|
|
ctf131
|
|
|
vasoconstrictively
|
|
|
controllers
|
|
|
yap65
|
|
|
hypomineralization
|
|
|
nikmediated
|
|
|
tnfalphaltalpha
|
|
|
diacylglycerollipase
|
|
|
ser341
|
|
|
ser340
|
|
|
ser347
|
|
|
ser345
|
|
|
ser349
|
|
|
recombinases
|
|
|
rs2071559
|
|
|
cers6
|
ceramide synthase 6|
|
|
waf1
|
|
|
exonucleolytic
|
|
|
remyelination
|
|
|
perpendicular
|
|
|
virusinducible
|
|
|
henchschonlein
|
|
|
ysk1
|
|
|
mitochondrialdependent
|
|
|
rs1805794
|
|
|
ctf18dcc1ctf8replication
|
|
|
cers1
|
ceramide synthase 1|This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. Members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in yeast suggest that the encoded protein is involved in aging. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2008]
|
|
differentlythe
|
|
|
resistinstimulated
|
|
|
endosulfanalpha
|
|
|
gujarat
|
|
|
par2mediated
|
|
|
hypercontractility
|
|
|
trinidadians
|
|
|
youthful
|
|
|
hlab27positive
|
|
|
benzene
|
A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system.
|
|
nkg2ddap10
|
|
|
cdk1
|
cyclin-dependent kinase 1|The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
|
|
cdk2
|
cyclin-dependent kinase 2|This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
|
cdk3
|
cyclin-dependent kinase 3|This gene encodes a member of the cyclin-dependent protein kinase family. The protein promotes entry into S phase, in part by activating members of the E2F family of transcription factors. The protein also associates with cyclin C and phosphorylates the retinoblastoma 1 protein to promote exit from G0. [provided by RefSeq, Jul 2008]
|
|
cdk4
|
cyclin-dependent kinase 4|The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]
|
|
cdk5
|
cyclin-dependent kinase 5|This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. In humans, an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
|
|
cdk6
|
cyclin-dependent kinase 6|The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Expression of this gene is up-regulated in some types of cancer. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]
|
|
cdk7
|
cyclin-dependent kinase 7|The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008]
|
|
cdk8
|
cyclin-dependent kinase 8|The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit cyclin C are components of the RNA polymerase II holoenzyme complex, which phosphorylates the carboxy-terminal domain (CTD) of the largest subunit of RNA polymerase II. This kinase has also been shown to regulate transcription by targeting the CDK7/cyclin H subunits of the general transcription initiation factor IIH (TFIIH), thus providing a link between the 'Mediator-like' protein complexes and the basal transcription machinery. [provided by RefSeq, Jul 2008]
|
|
cdk9
|
cyclin-dependent kinase 9|The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008]
|
|
sports
|
|
|
rasgef1
|
|
|
tpsb2
|
tryptase beta 2 (gene/pseudogene)|Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]
|
|
asyip
|
|
|
capping
|
|
|
ixb
|
|
|
xpb
|
|
|
xpa
|
xeroderma pigmentosum, complementation group A|This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
|
|
ixa
|
|
|
e2f1expressing
|
|
|
xpf
|
|
|
cuticle
|
Exoskeleton or shell, including those of mollusks, turtles, insects and crustaceans.
|
|
xpd
|
|
|
tlbl
|
|
|
adam10mediated
|
|
|
systemslevel
|
|
|
omtky3
|
|
|
expressionmediated
|
|
|
gccc
|
|
|
b7h3
|
|
|
cdki
|
|
|
cd95ligandmediated
|
|
|
monomers
|
|
|
cdks
|
|
|
fads1
|
fatty acid desaturase 1|The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
|
|
fads3
|
fatty acid desaturase 3|The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
|
|
fads2
|
fatty acid desaturase 2|The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
|
|
atrtochk1
|
|
|
macrophagederived
|
|
|
hl7702
|
|
|
fulfilling
|
|
|
igfiigfbpvn
|
|
|
cul3mediated
|
|
|
treatmentrelated
|
|
|
myt1l
|
myelin transcription factor 1-like|
|
|
fluctuations
|
|
|
foxp3cd25high
|
|
|
crasp1
|
|
|
polarised
|
|
|
il2ralpha
|
|
|
cfim68
|
|
|
ift81
|
intraflagellar transport 81|
|
|
mecp2
|
methyl CpG binding protein 2|DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq, Jul 2009]
|
|
endsystolic
|
|
|
ift88
|
intraflagellar transport 88|This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
|
plasmaumbilical
|
|
|
coordinator
|
|
|
reservoirs
|
|
|
unidirectional
|
|
|
alphathalassemic
|
|
|
alphathalassemia
|
|
|
atase2
|
|
|
atase1
|
|
|
rainbow
|
|
|
omihtra2s
|
|
|
kinaseaktmtorvegf165
|
|
|
nrf2antioxidant
|
|
|
arc105
|
|
|
cd14159t
|
|
|
hgprt
|
|
|
nicu
|
|
|
nick
|
|
|
alphatropomyosin
|
|
|
d096
|
|
|
nicm
|
|
|
noncommon
|
|
|
nicd
|
|
|
gustatory
|
|
|
dictating
|
|
|
tubulointerstitium
|
|
|
alpha32b13metlys
|
|
|
i744tc
|
|
|
ezrinmoesin
|
|
|
atg4c
|
autophagy related 4C, cysteine peptidase|Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008]
|
|
atg4b
|
autophagy related 4B, cysteine peptidase|Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
|
bonding
|
|
|
hevs
|
|
|
allowing
|
|
|
puncture
|
|
|
atg4d
|
autophagy related 4D, cysteine peptidase|Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
|
gpr97
|
|
|
cxcr3induced
|
|
|
ighv434
|
|
|
digenism
|
|
|
gpr91
|
|
|
hgal
|
|
|
gammalactones
|
|
|
m118k
|
|
|
sel1
|
|
|
ad4bpsf1
|
|
|
vmat
|
|
|
buffalo
|
|
|
homologydependent
|
|
|
tlr2nfkappabdependent
|
|
|
cyclosporineinduced
|
|
|
resistancetype
|
|
|
matrixinduced
|
|
|
discordant
|
|
|
nematodes
|
|
|
cmpl
|
|
|
b6restricted
|
|
|
s203
|
|
|
xxii
|
|
|
inbreeding
|
|
|
rs368328
|
|
|
chainiia
|
|
|
cteminus
|
|
|
flt3internaltandem
|
|
|
gpbp
|
|
|
ncpap
|
|
|
fgf14nav16
|
|
|
include
|
|
|
herpesvirusinduced
|
|
|
tirapmal
|
|
|
cmp6
|
|
|
caspases37
|
|
|
baxpermeabilizing
|
|
|
vamp3
|
vesicle-associated membrane protein 3|Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]
|
|
apoe4induced
|
|
|
deficiencyassociated
|
|
|
cytoskeletalmembrane
|
|
|
polypyrimidine
|
|
|
ckialpha
|
|
|
judo
|
|
|
pvuiixbai
|
|
|
vamp7
|
vesicle-associated membrane protein 7|This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
|
|
dctn1slc4a5
|
|
|
strandsin
|
|
|
corticotropinreleasing
|
|
|
reninangiotensinogen
|
|
|
arrhythmogenesis
|
|
|
pretranslational
|
|
|
postdislocation
|
|
|
polyol
|
|
|
sabinding
|
|
|
clathrinbinding
|
Interacting selectively and non-covalently with a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles.
|
|
concluded
|
|
|
der8t81418
|
|
|
a2ard2r
|
|
|
hasb92
|
|
|
bmscderived
|
|
|
hk2
|
hexokinase 2|Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]
|
|
hk3
|
hexokinase 3 (white cell)|Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]
|
|
hk1
|
hexokinase 1|Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. [provided by RefSeq, Apr 2009]
|
|
acis
|
|
|
hk7
|
|
|
hk4
|
|
|
lymphotoxinbeta
|
|
|
intraerythrocytic
|
|
|
preoptic
|
|
|
concludes
|
|
|
fdxr
|
ferredoxin reductase|This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
|
|
lymphedema
|
|
|
acid
|
|
|
medieval
|
|
|
hsp72independent
|
|
|
ang21
|
|
|
il12il18induced
|
|
|
lipopolysaccharidechallenged
|
|
|
spam1
|
|
|
antidsdna
|
|
|
ugt
|
|
|
upregulaion
|
|
|
cyp2cpoor
|
|
|
n376
|
|
|
hks
|
|
|
myotendinous
|
|
|
calcineurincyclophilincyclosporin
|
|
|
explore
|
|
|
hki
|
|
|
fermentans
|
|
|
fdx2
|
|
|
hkc
|
|
|
fdx1
|
ferredoxin 1|This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]
|
|
calgizzarin
|
|
|
suggesta
|
|
|
jlambdaclambda
|
|
|
suggestd
|
|
|
edeficient
|
|
|
dheasai
|
|
|
suggests
|
|
|
dr6induced
|
|
|
tenfold
|
|
|
vegf460
|
|
|
e4fmediated
|
|
|
pdgfrb
|
platelet-derived growth factor receptor, beta polypeptide|This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008]
|
|
pdgfra
|
platelet-derived growth factor receptor, alpha polypeptide|This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]
|
|
scarriers
|
|
|
egypt
|
|
|
osteocytes
|
|
|
concertedly
|
|
|
intradialytic
|
|
|
xlmr
|
|
|
glycolytic
|
|
|
iodine
|
|
|
bindings
|
|
|
transformylaseand
|
|
|
membermediated
|
|
|
martsolf
|
|
|
replicon
|
|
|
frog
|
|
|
p37
|
|
|
coumarin
|
|
|
phosphorylationmediated
|
|
|
emodin
|
A member of the class of hydroxyanthraquinones that is 9,10-anthraquinone which is substituted by hydroxy groups at positions 1, 3, and 8 and by a methyl group at position 6. It is present in the roots and barks of numerous plants (particularly rhubarb and buckthorn), moulds, and lichens. It is an active ingredient of various Chinese herbs.
|
|
posttrauma
|
|
|
a2756g
|
|
|
hermanskypudlak
|
|
|
tetrasaccharide
|
|
|
k1443
|
|
|
mapk14mediated
|
|
|
hypertrimethylation
|
|
|
scube3
|
signal peptide, CUB domain, EGF-like 3|This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
|
scube1
|
signal peptide, CUB domain, EGF-like 1|This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]
|
|
pccb
|
propionyl CoA carboxylase, beta polypeptide|The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
|
|
eif2bbetav341d
|
|
|
pcca
|
propionyl CoA carboxylase, alpha polypeptide|The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
|
|
lsil
|
|
|
wp1193
|
|
|
hpmscsmediated
|
|
|
stromalpreosteoblast
|
|
|
cul1skp1
|
|
|
gp120induced
|
|
|
fastprogression
|
|
|
binding3
|
|
|
ectoadenylate
|
|
|
bacterialderived
|
|
|
copperative
|
|
|
eralphaenos
|
|
|
arrangementpositive
|
|
|
globotriaosylceramide
|
|
|
immunodominant
|
|
|
feiyanning
|
|
|
hmsh26
|
|
|
s19like
|
|
|
accrued
|
|
|
biomimetic
|
|
|
therapeutical
|
|
|
crich
|
|
|
carboxylatecontaining
|
|
|
mg53mediated
|
|
|
hyperemesis
|
|
|
alcoholassociated
|
|
|
misfoldedunfolded
|
|
|
provoke
|
|
|
tip2gipc
|
|
|
ptprz1
|
protein tyrosine phosphatase, receptor-type, Z polypeptide 1|This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
|
|
bacteremia
|
An infection that has as part bacteria located in the blood.
|
|
specialisation
|
|
|
lage1a
|
|
|
p190
|
|
|
dcaf8
|
DDB1 and CUL4 associated factor 8|This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
|
|
calphoglin
|
|
|
rs9277535
|
|
|
chrna4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)|This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
|
|
alpha9helix
|
|
|
perm1
|
|
|
cd163positive
|
|
|
normalcy
|
|
|
deltoid
|
|
|
arginineglutamate
|
|
|
oncogenicity
|
|
|
monoubiquitinated
|
|
|
multimerize
|
|
|
cd24low
|
|
|
pp71
|
|
|
caldendrin
|
|
|
progesteronelike
|
|
|
monoubiquitinates
|
|
|
raceethnic
|
|
|
cd1crestricted
|
|
|
nucleuscytoplasmic
|
|
|
lipofuscinosis
|
accumulation of intracellular autofluorescent material, in the form of brownish fatty pigment, in lysosomes as a normal part of senescence or aging
|
|
interpreted
|
|
|
ultrastructurally
|
|
|
miha
|
|
|
sec1fut2sec1
|
|
|
hkcnq1
|
|
|
mitochondriaregulated
|
|
|
chrna7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)|The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
|
|
superior
|
|
|
rsvl
|
|
|
dpeb1
|
|
|
htlv1infected
|
|
|
e2fdependent
|
|
|
acidactivated
|
|
|
pwwp
|
|
|
ldlldl
|
|
|
distraction
|
|
|
hnuf2
|
|
|
h166
|
|
|
bchaindomain
|
|
|
teratoid
|
|
|
phosphoinositide3kinaseakt
|
|
|
xrcc1399
|
|
|
carcinomaassociated
|
|
|
ghrd3
|
|
|
cd47tsp1
|
|
|
hprep
|
|
|
gaprelated
|
|
|
weightoverweight
|
|
|
procathepsin
|
|
|
neurotoxins
|
|
|
hdcc1
|
|
|
seliciclib
|
|
|
edit
|
|
|
der22t1722
|
|
|
fboxcontaining
|
|
|
amphetamineregulated
|
|
|
subcontinent
|
|
|
nontransinteracting
|
|
|
pubertyassociated
|
|
|
cd3cd46induced
|
|
|
fusogenic
|
|
|
prdxii
|
|
|
filopodia
|
|
|
highresolution
|
|
|
macf1
|
microtubule-actin crosslinking factor 1|This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
|
|
dj1l166p
|
|
|
samm50
|
SAMM50 sorting and assembly machinery component|This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]
|
|
flexbondbetween
|
|
|
mrcc
|
|
|
ogn
|
osteoglycin|This gene encodes a protein which induces ectopic bone formation in conjunction with transforming growth factor beta. This protein is a small proteoglycan which contains tandem leucine-rich repeats (LRR). Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
mrck
|
|
|
catabolizing
|
|
|
erythematosis
|
|
|
sufficed
|
|
|
autoregulate
|
|
|
epression
|
|
|
egln
|
|
|
arg20
|
|
|
suffices
|
|
|
mrc1
|
mannose receptor, C type 1|The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Apr 2011]
|
|
mrc5
|
Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966.
|
|
cxcr3wt
|
|
|
cin85
|
|
|
hoct2mediated
|
|
|
pkm1expressing
|
|
|
hgmcsf
|
|
|
autozygome
|
|
|
chlamydiaceae
|
|
|
organic
|
|
|
cholestrol
|
|
|
egl1
|
|
|
cd9regulated
|
|
|
drinkingrelated
|
|
|
nontransferrin
|
|
|
promastigotes
|
|
|
gprpam
|
|
|
hence
|
|
|
il1beta31cc
|
|
|
lpsresponsive
|
|
|
bkb2r
|
|
|
zebov
|
|
|
piinduced
|
|
|
keratoconjuctivitis
|
|
|
cdc27
|
cell division cycle 27|The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]
|
|
cdc25
|
|
|
cmml
|
|
|
microtubuledamaging
|
|
|
cdc20
|
cell division cycle 20|CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]
|
|
rs12779790
|
|
|
obligateordered
|
|
|
mm111
|
|
|
interleukin15
|
|
|
interleukin16
|
|
|
interleukin17
|
|
|
interleukin10
|
|
|
interleukin11
|
|
|
interleukin12
|
|
|
interleukin13
|
|
|
unknown
|
|
|
interleukin18
|
|
|
interleukin19
|
|
|
nineinlike
|
|
|
interflavin
|
|
|
priority
|
|
|
immunoassay
|
|
|
eb3siah1
|
|
|
rs6723449tc
|
|
|
neuroplasticity
|
|
|
alpha1antitrypsindeficient
|
|
|
lthyroxine
|
|
|
premixes
|
|
|
polynitrogen
|
|
|
mir1792
|
|
|
taskrelevant
|
|
|
cacner
|
|
|
urinaryserum
|
|
|
hypodysplasia
|
|
|
reductase1
|
|
|
liquid
|
|
|
sod1linked
|
|
|
vanadium
|
|
|
interleukin1a
|
|
|
interleukin1b
|
|
|
docosahexaenoic
|
|
|
primir18a
|
|
|
hvps22p
|
|
|
delineates
|
|
|
pkcetainduced
|
|
|
nimotuzumab
|
|
|
igmlambdaica
|
|
|
pg12d
|
|
|
teenagers
|
|
|
delineated
|
|
|
wh2
|
|
|
comedodcis
|
|
|
pip3
|
|
|
pip2
|
|
|
egfrinterleukin1
|
|
|
ca2calmodulindependent
|
|
|
motoneuron
|
A neuron with a motor function; an efferent neuron conveying motor impulses.
|
|
y1494
|
|
|
thr641
|
|
|
et1mediated
|
|
|
lkb1nuak
|
|
|
aurka
|
aurora kinase A|The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
aurkb
|
aurora kinase B|This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
|
|
aurkc
|
aurora kinase C|This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
|
|
twist1bmi1
|
|
|
appbp1uba3
|
|
|
why
|
|
|
pips
|
|
|
atypical
|
|
|
oscillated
|
|
|
celloforigin
|
|
|
e4bp4dependent
|
|
|
pretherapeutic
|
|
|
oscillates
|
|
|
ensued
|
|
|
pipk
|
|
|
midhindbrain
|
|
|
balding
|
|
|
autismrelated
|
|
|
maoauvntr
|
|
|
pathogencontaining
|
|
|
hif2alpha
|
|
|
mh35bd
|
|
|
cub2
|
|
|
camkkaktp300
|
|
|
cub1
|
|
|
tlr4il10
|
|
|
homotypic
|
|
|
couptfii
|
|
|
dysadherinpositive
|
|
|
opa4
|
|
|
dhainduced
|
|
|
microrna449a
|
|
|
tgfddtau
|
|
|
ldopachrome
|
|
|
dma
|
|
|
cubn
|
cubilin (intrinsic factor-cobalamin receptor)|Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]
|
|
mmtase
|
|
|
ciitadependent
|
|
|
rfx5
|
regulatory factor X, 5 (influences HLA class II expression)|A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]
|
|
ductular
|
|
|
dmc
|
|
|
p47phox
|
|
|
coordinating
|
|
|
pig3mediated
|
|
|
raslike
|
|
|
peptideghrp6
|
|
|
betaactintric
|
|
|
apo2ltrailinduced
|
|
|
pi3kakt3
|
|
|
rs12313273
|
|
|
demonistratedt
|
|
|
exocytotic
|
|
|
barrierspecific
|
|
|
thrive
|
|
|
lntb
|
|
|
mir520a5p
|
|
|
castrationrefractory
|
|
|
tuj1
|
|
|
targetprint
|
|
|
hnudcinduced
|
|
|
sulf1sulf2
|
|
|
truncating
|
|
|
xrcc4dna
|
|
|
dysmorphic
|
|
|
hiv1aids
|
|
|
coclustering
|
|
|
failsafe
|
|
|
nondegenerate
|
|
|
hepcidininduced
|
|
|
breakpoints
|
|
|
ckitcrafmekerkcjunhey1gata1
|
|
|
dms
|
|
|
phosphorylationinduced
|
|
|
gammacarboxylated
|
|
|
proteinregulated
|
|
|
rfx1
|
regulatory factor X, 1 (influences HLA class II expression)|This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X2, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2, X3, and X5, but not with X4. This protein binds to the X-boxes of MHC class II genes and is essential for their expression. Also, it can bind to an inverted repeat that is required for expression of hepatitis B virus genes. [provided by RefSeq, Jul 2008]
|
|
pc5a
|
|
|
kri2dl1
|
|
|
demonitrated
|
|
|
hervkhml2
|
|
|
diacylglycerolpkc
|
|
|
jnkdependent
|
|
|
bronchoalveolarlavage
|
|
|
s323
|
|
|
integrinsfk
|
|
|
t13910c
|
|
|
stucco
|
|
|
marrows
|
|
|
neurofibromindeficient
|
|
|
gzma
|
granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)|Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008]
|
|
diseasehowever
|
|
|
nap1l1
|
nucleosome assembly protein 1-like 1|This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015]
|
|
nap1l2
|
nucleosome assembly protein 1-like 2|The protein encoded by this intronless gene is a member of the nucleosome assembly protein (NAP) family. The encoded protein represents a class of tissue-specific factors that interact with chromatin to regulate neuronal cell proliferation. [provided by RefSeq, Jan 2011]
|
|
gtg
|
|
|
gzmh
|
granzyme H (cathepsin G-like 2, protein h-CCPX)|The protein encoded by this gene is a member of the granzyme family. Members of this family are highly conserved serine proteases that eliminate transformed cells and virus-infected cells. This protein, which has chymotrypsin-like activity, has a preference for bulky aromatic amino acids at the P1 position and for acidic residues at the P3' and P4' positions. This protein is reported to be constitutively expressed in NK cells and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
|
|
sdifnbeta
|
|
|
gzmk
|
granzyme K (granzyme 3; tryptase II)|This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]
|
|
april
|
|
|
aprin
|
|
|
gti
|
|
|
tazdependent
|
|
|
grounds
|
|
|
extradomain
|
|
|
trkbtk
|
|
|
nt460aivs3
|
|
|
gtm
|
|
|
urines
|
|
|
ataxinl
|
|
|
pericentriolar
|
|
|
mir337
|
|
|
rs6442925
|
|
|
disarming
|
|
|
respiratorychain
|
The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient.
|
|
pressureinduced
|
|
|
tlrs78
|
|
|
abcb1abcb4
|
|
|
iclinduced
|
|
|
responds
|
|
|
gts
|
|
|
mtndh2
|
|
|
ecadherinrelated
|
|
|
mesnchymal
|
|
|
kinaselinked
|
|
|
il9jak3
|
|
|
mpralpha
|
|
|
trim25mediated
|
|
|
ataxin7
|
|
|
ataxin1
|
|
|
ataxin2
|
|
|
ataxin3
|
|
|
akkaa
|
|
|
idasgeminin
|
|
|
confers
|
|
|
freckling
|
Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.
|
|
receptorcagn
|
|
|
solubilization
|
|
|
kcyclin
|
|
|
antisumo
|
|
|
alphaketo
|
|
|
porcinehuman
|
|
|
stunning
|
|
|
intramyocardial
|
|
|
medicinal
|
|
|
defectiveness
|
|
|
hcvcore
|
|
|
hcds1chk2
|
|
|
v16a
|
|
|
pkrlike
|
|
|
draining
|
|
|
progelatinase
|
|
|
arresting
|
|
|
hladrb10301
|
|
|
microrna22122
|
|
|
lman1mcfd2
|
|
|
preproadrenomedullin
|
|
|
d2lr5ht2ar
|
|
|
proteintyrosine
|
|
|
g245s
|
|
|
g245r
|
|
|
hht1
|
|
|
hht2
|
|
|
keap1nrf2are
|
|
|
mir103107
|
|
|
matrilin
|
|
|
ctbp1sbars
|
|
|
ectock2
|
|
|
il7ra
|
|
|
transdifferentiation
|
The conversion of a differentiated cell of one fate into a differentiated cell of another fate without first undergoing cell division or reversion to a more primitive or stem cell-like fate.
|
|
wd40
|
|
|
proteinarh
|
|
|
akttorc1
|
|
|
npmalkcarrying
|
|
|
v162
|
|
|
warming
|
|
|
underneath
|
|
|
lumican
|
|
|
miscarriagesrm
|
|
|
myelodysplasticmyeloproliferative
|
|
|
antigenrestricted
|
|
|
ranbp2alk
|
|
|
ipsecs
|
|
|
melanocyte
|
An epidermal cell that produces melanin.
|
|
betadystrobrevin
|
|
|
camel
|
|
|
gsta1bb
|
|
|
quercetininduced
|
|
|
anopheles
|
|
|
masseter
|
A thick muscle in the cheek that closes the jaws during chewing.
|
|
divergently
|
|
|
girasrafnfkappab
|
|
|
ligasedependent
|
|
|
radically
|
|
|
usage
|
|
|
ndrg1cap43
|
|
|
cellautonomous
|
|
|
metasn
|
|
|
ivs1397
|
|
|
dmrt1
|
doublesex and mab-3 related transcription factor 1|This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
|
|
assocoated
|
|
|
dmrt3
|
|
|
btn3a2
|
butyrophilin, subfamily 3, member A2|This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
|
|
sdich
|
|
|
cortisolmediated
|
|
|
p045
|
|
|
krasdependent
|
|
|
cdeltamediated
|
|
|
rs1048661
|
|
|
dpb10501
|
|
|
foxd1
|
forkhead box D1|This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]
|
|
statresponsive
|
|
|
microthrombosis
|
|
|
hsp90p50cdc37
|
|
|
calciumsensitivity
|
|
|
hepatobiliary
|
|
|
galr1galanin
|
|
|
il6interleukin6
|
|
|
hosts
|
|
|
cebpss
|
|
|
clutch
|
|
|
rs2910164gc
|
|
|
fcgriiahr
|
|
|
ervwe1
|
|
|
ankk1drd2
|
|
|
c260t
|
|
|
parity
|
|
|
exceed
|
|
|
e4orf4
|
|
|
e22
|
|
|
e4orf6
|
|
|
herv46
|
|
|
e4orf3
|
|
|
ptdins4p
|
|
|
hypoglossal
|
|
|
hebbian
|
|
|
gave
|
|
|
urotheliumderived
|
|
|
gonococcal
|
|
|
methylationassociated
|
|
|
ma3f
|
|
|
malignancypromoting
|
|
|
chdfree
|
|
|
zmynd17
|
|
|
zmynd15
|
|
|
missense
|
|
|
zmynd10
|
zinc finger, MYND-type containing 10|
|
|
pik3
|
|
|
rs4148416
|
|
|
g14804a
|
|
|
gigantism
|
|
|
rmst
|
|
|
mirna449a
|
|
|
insulinsensitive
|
|
|
ptpzeta
|
|
|
minisatellite
|
|
|
andrographitis
|
|
|
pacs1
|
phosphofurin acidic cluster sorting protein 1|This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]
|
|
monomethylating
|
|
|
gutbrain
|
|
|
dysbindin
|
|
|
rarb
|
retinoic acid receptor, beta|This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
|
amn107
|
|
|
carried
|
|
|
rarg
|
retinoic acid receptor, gamma|This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
|
rarf
|
|
|
spata19
|
|
|
spata18
|
spermatogenesis associated 18|
|
|
nucleophosmin
|
|
|
carries
|
|
|
carrier
|
|
|
substistution
|
|
|
inwardlyrectifying
|
|
|
individually
|
|
|
tdp43
|
|
|
polished
|
|
|
gymnastic
|
|
|
s100a8s100a9is
|
|
|
cxcr12
|
|
|
hydroxide
|
|
|
amylase
|
|
|
arg498
|
|
|
crystallization
|
|
|
spiral
|
|
|
ipla2regulated
|
|
|
feline
|
|
|
vwfpp
|
|
|
monounsaturated
|
|
|
bronchi
|
|
|
rnapolymerase
|
|
|
arrythmogenic
|
|
|
acidregulated
|
|
|
volume
|
A volume is a size quality which describes the amount of 3-dimensional space an object occupies.|A 3-D extent quality inhering in a bearer by virtue of the bearer's amount of 3-dimensional space it occupies.
|
|
immunerelated
|
|
|
biliopancreatic
|
|
|
automated
|
|
|
superrepeat
|
|
|
tyr685
|
|
|
granzyme
|
|
|
tyr682
|
|
|
il23a
|
interleukin 23, alpha subunit p19|This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]
|
|
arnt
|
aryl hydrocarbon receptor nuclear translocator|This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
|
|
paktecadherin
|
|
|
ecadherinrepressed
|
|
|
faahir
|
|
|
sgms
|
|
|
copicoated
|
|
|
depletioninduced
|
|
|
il23r
|
Combining with interleukin-23 and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
|
|
h460m
|
|
|
arno
|
|
|
nonsmallcelllungcancer
|
A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy.
|
|
traf3regulated
|
|
|
kind1
|
|
|
tgfbmediated
|
|
|
progesteronestimulated
|
|
|
anticardiolipin
|
|
|
p38jnk
|
|
|
ang112
|
|
|
gaiii
|
|
|
att20
|
|
|
ca2oinduced
|
|
|
welldifferentiated
|
|
|
abruptio
|
|
|
npmalkexpressing
|
|
|
subab
|
|
|
sas4
|
|
|
grhpr
|
glyoxylate reductase/hydroxypyruvate reductase|This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]
|
|
sas6
|
|
|
mmp1112
|
|
|
factortnfalpha
|
|
|
rhbmp2
|
|
|
nrl
|
neural retina leucine zipper|This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]
|
|
rhbmp6
|
|
|
sympathoadrenal
|
|
|
betweenstudy
|
|
|
pi4kbeta
|
|
|
tbkbp1
|
TBK1 binding protein 1|TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008]
|
|
conclusion
|
|
|
hsp90akt
|
|
|
kinds
|
|
|
chelators
|
|
|
synthase1
|
|
|
shbgtaaaan
|
|
|
pumps
|
|
|
synthase2
|
|
|
il10responsive
|
|
|
a503v
|
|
|
lcn1
|
lipocalin 1|This gene encodes a member of the lipocalin family of small secretory proteins. Lipocalins are extracellular transport proteins that bind to a variety of hydrophobic ligands. The encoded protein is the primary lipid binding protein in tears and is overproduced in response to multiple stimuli including infection and stress. The encoded protein may be a marker for chromosome aneuploidy as well as an autoantigen in Sjogren's syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and two pseudogenes of this gene are also located on the long arm of chromosome 9. [provided by RefSeq, Nov 2011]
|
|
sasp
|
|
|
lcn2
|
lipocalin 2|
|
|
nhls
|
|
|
cadherins
|
|
|
fviifviia
|
|
|
complexdependent
|
|
|
jak2stat
|
|
|
nhlb
|
|
|
cadherine
|
|
|
estriol
|
|
|
estrogenprogestogen
|
|
|
androgenstat3
|
|
|
il18rbeta
|
|
|
yellow
|
|
|
cellcell
|
|
|
fig4
|
FIG4 phosphoinositide 5-phosphatase|The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
|
|
granulocytemonocyte
|
|
|
putamen
|
Subcortical nucleus of telencephalic , which together with the caudate nucleus, forms the striatum. The putamen lies lateral to the internal capsule and medial to the external medullary lamina, and is separated from the caudate nucleus by the fibers of the internal capsule for most of its length, except at its anterior portion.
|
|
nrp
|
Any process in which a dormant state is maintained by the symbiont within the host organism.
|
|
enediynyl
|
|
|
norovirus
|
|
|
beta1integrindependent
|
|
|
pcepcr
|
|
|
deoxycytidine
|
|
|
otrs
|
|
|
diabeticsevere
|
|
|
lutropin
|
|
|
shielding
|
|
|
p258
|
|
|
tl1a
|
|
|
cystinosin
|
Catalysis of the transfer of cystine from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy. Chemiosmotic sources of energy include uniport, symport or antiport.
|
|
brainstems
|
|
|
regional
|
|
|
buche
|
|
|
alienmlk2
|
|
|
ala119
|
|
|
egr2jarid1bmediated
|
|
|
pycr1
|
pyrroline-5-carboxylate reductase 1|This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
|
endotheliocytes
|
|
|
pcol2
|
|
|
cjun
|
|
|
adulttype
|
|
|
phidependent
|
|
|
n400
|
|
|
integrinb1mediated
|
|
|
intensification
|
|
|
s100a8
|
S100 calcium binding protein A8|The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. [provided by RefSeq, Jul 2008]
|
|
fam20a
|
|
|
cdk5splicing
|
|
|
actinin1
|
|
|
s100a7
|
S100 calcium binding protein A7|The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. The protein is overexpressed in hyperproliferative skin diseases, exhibits antimicrobial activities against bacteria and induces immunomodulatory activities. [provided by RefSeq, Nov 2014]
|
|
actinin3
|
|
|
actinin4
|
|
|
otr1
|
|
|
caspaserelated
|
|
|
fam20c
|
family with sequence similarity 20, member C|This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]
|
|
epithelialmesenchyme
|
|
|
miller
|
|
|
ebvinduced
|
|
|
tether
|
|
|
sug1
|
|
|
multimers
|
|
|
membranetethered
|
|
|
mlh1positive
|
|
|
negates
|
|
|
slc23a1
|
solute carrier family 23 (ascorbic acid transporter), member 1|The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
|
|
slc23a2
|
solute carrier family 23 (ascorbic acid transporter), member 2|The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]
|
|
jazf1jjaz1
|
|
|
increasing
|
|
|
miosis
|
Abnormal (non-physiological) constriction of the pupil.
|
|
reelinpositive
|
|
|
avert
|
|
|
mrendocytosisdependent
|
|
|
pathobiologic
|
|
|
a8923c
|
|
|
cardiogenesis
|
The developmental process pertaining to the initial formation of the heart from unspecified parts. This process begins with the specific processes that contribute to the appearance of the heart field and the arrival of cardiac neural crest to the heart region. The process ends when the structural rudiment is recognizable.
|
|
freeliving
|
|
|
neuroepithelium
|
1: Simple columnar epithelium made up of cells specialized to serve as sensory cells for the reception of external stimuli, as the sensory cells of the cochlea, vestibule, nasal mucosa, and tongue. 2: The epithelium of the ectoderm, from which the central nervous system is developed.
|
|
chemorepellent
|
|
|
h2hrs
|
|
|
myelinated
|
|
|
vanin1
|
|
|
vanin3
|
|
|
shps1
|
|
|
bmi1mel18
|
|
|
amiloride
|
A monocarboxylic acid amide that is N-carbamimidoylpyrazine-2-carboxamide substituted by amino groups at positions 3 and 5 and a chloro group at position 6.
|
|
mog1
|
|
|
pemt
|
phosphatidylethanolamine N-methyltransferase|Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
|
|
granulomatosis
|
Formation of multiple granulomas, i.e., localized nodular foci inflammation.
|
|
exocytosed
|
|
|
apob100
|
|
|
dualpurpose
|
|
|
pdk1rapgef4
|
|
|
sprr1a
|
small proline-rich protein 1A|
|
|
sprr1b
|
small proline-rich protein 1B|
|
|
adiposityrelated
|
|
|
nodelike
|
|
|
acpl1
|
|
|
skp2independent
|
|
|
factorinterleukin6
|
|
|
remodeled
|
|
|
explained
|
|
|
trretinoid
|
|
|
parasomnic
|
|
|
metalloproteases
|
|
|
ig5fn1
|
|
|
trpc1trpc4
|
|
|
preneoplasticneoplastic
|
|
|
melanosomal
|
|
|
fn14
|
|
|
pulmoanry
|
|
|
perijunctional
|
|
|
wwp2
|
WW domain containing E3 ubiquitin protein ligase 2|This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]
|
|
spoke
|
|
|
hneinduced
|
|
|
tyw3cryz
|
|
|
ostalpha
|
|
|
r92q
|
|
|
melanomainitiating
|
|
|
von
|
|
|
comorbid
|
|
|
successful
|
|
|
motors
|
|
|
oatp2b1
|
|
|
bcrpr482
|
|
|
abeta34
|
|
|
metalloprotease1
|
|
|
metalloprotease2
|
|
|
metalloprotease9
|
|
|
ckap4p63
|
|
|
tgfbeta1dependent
|
|
|
fivegeneration
|
|
|
fxrrxr
|
|
|
aalpha
|
|
|
lipooligosaccharides
|
|
|
lin12like
|
|
|
isgf3
|
|
|
fh1
|
|
|
trnagln
|
|
|
trnaglu
|
|
|
lightstrand
|
|
|
translocationallyarrested
|
|
|
nonanastomotic
|
|
|
tristetraprolinindependent
|
|
|
dualhit
|
|
|
steatosis
|
|
|
sipp1
|
|
|
cytokeratine
|
|
|
caveolin1containing
|
|
|
p53interacting
|
|
|
ppapdc1b
|
|
|
underphosphorylated
|
|
|
methylglyoxalmg
|
|
|
cytokeratins
|
|
|
gastroenterological
|
|
|
preferably
|
|
|
aneuploidization
|
|
|
racspecific
|
|
|
mir199a5p
|
|
|
damage
|
|
|
periinfarcted
|
|
|
machine
|
|
|
methodology
|
|
|
chymases
|
|
|
agglutination
|
|
|
preferable
|
|
|
malariainfected
|
|
|
nephronophthisisassociated
|
|
|
arylesterase
|
|
|
bcrabl
|
|
|
heparinoids
|
|
|
ubqln
|
|
|
oncogenically
|
|
|
forminlike
|
|
|
siberia
|
|
|
podocin
|
|
|
secretor
|
|
|
wins
|
|
|
attracts
|
|
|
centriole
|
A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
|
|
keeps
|
|
|
neuropathological
|
|
|
systemically
|
|
|
hashimoto
|
|
|
restriction
|
|
|
neuronspeci
|
|
|
oservations
|
|
|
fatherinfant
|
|
|
cdrsconcentrationdose
|
|
|
polyadenylate
|
|
|
cemc7
|
|
|
mta1tfap2c
|
|
|
cyp1a1mspi
|
|
|
tweakfn14
|
|
|
alpha1vi
|
|
|
wipwasp
|
|
|
semimature
|
|
|
tissuesreview
|
|
|
fty720p
|
|
|
alpine
|
|
|
beta1b
|
|
|
beta1a
|
|
|
sofarunexplored
|
|
|
inoculated
|
|
|
enrich
|
|
|
domainfe65
|
|
|
snitrosoglutathione
|
|
|
peptidemediated
|
|
|
fibrosiscirrhosis
|
|
|
pasp374tyr
|
|
|
rap1krit
|
|
|
vasoocclusive
|
|
|
jnkap1
|
|
|
icosb7h
|
|
|
p14arfp53mdm2
|
|
|
silver
|
|
|
flj11383
|
|
|
rhoaindependent
|
|
|
represents
|
|
|
releasate
|
|
|
twintwin
|
|
|
atpmediated
|
|
|
beta16
|
|
|
cftd
|
|
|
pyrothoraxassociated
|
|
|
beta10
|
|
|
alpha1v3
|
|
|
pypaf3
|
|
|
rasv12
|
|
|
cftr
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)|This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]
|
|
preceded
|
|
|
typifies
|
|
|
financial
|
|
|
basp1prohibitin
|
|
|
atpaseinsert
|
|
|
sterolregulatory
|
|
|
invitro
|
|
|
precedes
|
|
|
canakkale
|
|
|
sensor1
|
|
|
ameliorate
|
|
|
fcepsilonribeta
|
|
|
hladrb11502dqb10501
|
|
|
colostrummilk
|
|
|
cpga
|
|
|
cop9
|
|
|
tal1scl
|
|
|
msbased
|
|
|
intermembrane
|
|
|
noxs
|
|
|
cpgs
|
|
|
pulpal
|
|
|
pathogensensing
|
|
|
pigbaboon
|
|
|
dcb45
|
|
|
pi3kpak1erk
|
|
|
ctes
|
|
|
lekr1
|
|
|
cholesterol
|
|
|
midpoint
|
|
|
given
|
|
|
alphavbeta3vitronectinprovoked
|
|
|
necessarily
|
|
|
iai
|
|
|
sensors
|
|
|
udpglucuronic
|
|
|
gammaherpesviruses
|
|
|
kinasesignal
|
|
|
usscs
|
|
|
saha
|
|
|
upr
|
|
|
subepidermal
|
|
|
sahh
|
|
|
hgsc
|
|
|
ataxiatelangiectasiamutatedatm
|
|
|
ups
|
|
|
nox1
|
NADPH oxidase 1|This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
|
|
pilinked
|
|
|
nox2
|
|
|
nox5
|
NADPH oxidase, EF-hand calcium binding domain 5|This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
|
|
cd46dependent
|
|
|
abeta
|
|
|
rhassociated
|
|
|
itgalphav
|
|
|
c3ar
|
|
|
mirna5255p
|
|
|
utrophin
|
|
|
depressionreview
|
|
|
gefh1
|
|
|
mkcnq1
|
|
|
t514q35q322
|
|
|
nabu
|
|
|
stat3interleukin6
|
|
|
alphabetaglobin
|
|
|
iab
|
|
|
rhophilin2
|
|
|
suv420h2
|
suppressor of variegation 4-20 homolog 2 (Drosophila)|SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]
|
|
il18
|
Interacting selectively and non-covalently with the interleukin-18 receptor.
|
|
il19
|
Interacting selectively and non-covalently with the interleukin-19 receptor.
|
|
calmodulinregulated
|
|
|
damageresponsive
|
|
|
acesulfame
|
|
|
il11
|
Interacting selectively and non-covalently with the interleukin-11 receptor.
|
|
il12
|
Interacting selectively and non-covalently with the interleukin-12 receptor.
|
|
engagement
|
|
|
cytotrophoblastic
|
|
|
il16
|
Interacting selectively and non-covalently with the interleukin-16 receptor.
|
|
legg
|
|
|
mastitis
|
|
|
gluteninduced
|
|
|
postulate
|
|
|
legs
|
|
|
mcsfderived
|
|
|
selfcontrol
|
|
|
haemodynamics
|
|
|
lcmt1
|
leucine carboxyl methyltransferase 1|LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM, Mar 2008]
|
|
collapse
|
|
|
fibrous
|
|
|
cachexiarelated
|
|
|
p53padi4dependent
|
|
|
rs4680
|
|
|
didssensitive
|
|
|
oblongata
|
|
|
carcinogensis
|
|
|
stat1irf1dependent
|
|
|
fibrillogenic
|
|
|
mindfulnessbased
|
|
|
endosometorecycling
|
|
|
sw620
|
|
|
il1r
|
Combining with interleukin-1 to initiate a change in cell activity. Interleukin-1 is produced mainly by activated macrophages and is involved in the inflammatory response.
|
|
rs4072037a
|
|
|
pcplcmediated
|
|
|
iap
|
|
|
ckitpositive
|
|
|
il1a
|
interleukin 1, alpha|The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]
|
|
il1b
|
interleukin 1, beta|The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2008]
|
|
cubilin
|
|
|
kv11
|
|
|
kv12
|
|
|
kv13
|
|
|
kv14
|
|
|
kv15
|
|
|
hypermethylation
|
|
|
trpml
|
|
|
let7f
|
|
|
hrad1
|
|
|
ebna6
|
|
|
twogeneration
|
|
|
cellsinduced
|
|
|
responsible
|
|
|
igfigfrinduced
|
|
|
metallic
|
|
|
intron3
|
|
|
responsespecific
|
|
|
intron1
|
|
|
causing
|
|
|
intron4
|
|
|
intron8
|
|
|
hbmp2
|
|
|
amurense
|
|
|
antixa
|
|
|
srebp1cpparalpha
|
|
|
immunogenicity
|
|
|
traf2dependent
|
|
|
twolevel
|
|
|
slamslamassociated
|
|
|
depdc5
|
DEP domain containing 5|This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
|
breakpoint
|
|
|
retaining
|
|
|
subtilase
|
|
|
initiator
|
|
|
mrcka
|
|
|
introne
|
|
|
prothymosin
|
|
|
tridimensional
|
|
|
lpv
|
|
|
lps
|
|
|
gordons
|
|
|
lpp
|
LIM domain containing preferred translocation partner in lipoma|This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
|
|
introns
|
|
|
drb30202
|
|
|
microrna125a3p
|
|
|
lpi
|
|
|
lph
|
|
|
lpg
|
|
|
lpd
|
|
|
lpc
|
|
|
lpa
|
lipoprotein, Lp(a)|The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009]
|
|
shep1
|
|
|
bomb
|
|
|
decalvans
|
|
|
gly294val
|
|
|
tae226
|
|
|
gauge
|
|
|
induciblea
|
|
|
hungary
|
|
|
ungal
|
|
|
asyetundiscovered
|
|
|
copy
|
|
|
cupin
|
|
|
alpha9beta1
|
|
|
ment
|
|
|
psmb4gfp
|
|
|
topological
|
|
|
mens
|
|
|
theme
|
|
|
hypusine
|
An L-lysine derivative that is L-lysine bearing A (2R)-4-amino-2-hydroxybutyl substituent at position N6.
|
|
wntrelated
|
|
|
mend
|
|
|
aperef1
|
|
|
targetgenes
|
|
|
mena
|
|
|
sequestrating
|
|
|
tti2
|
TELO2 interacting protein 2|This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]
|
|
tti1
|
TELO2 interacting protein 1|
|
|
hormoneregulated
|
|
|
pyothoraxassociated
|
|
|
il23p19
|
|
|
ncf1
|
neutrophil cytosolic factor 1|The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
|
|
irak4deficient
|
|
|
chemokinespecific
|
|
|
drip78
|
|
|
ampatp
|
|
|
miteinduced
|
|
|
igf1rs
|
|
|
omega6omega3
|
|
|
gsdmbormdl3
|
|
|
haecs
|
|
|
charcot
|
|
|
theranostic
|
|
|
men4
|
|
|
rfree
|
|
|
men1
|
multiple endocrine neoplasia I|This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
|
|
men2
|
|
|
mapkp38
|
|
|
hspd1
|
heat shock 60kDa protein 1 (chaperonin)|This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
|
|
antirankligand
|
|
|
binucleation
|
|
|
ivs151ga
|
|
|
lama1
|
laminin, alpha 1|This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]
|
|
lama2
|
laminin, alpha 2|Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
lama3
|
laminin, alpha 3|The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
|
apoptosisblocking
|
|
|
hishis
|
|
|
ebrs
|
|
|
hyaluronancd44moesin
|
|
|
whigh
|
|
|
transesterification
|
|
|
adenylyltransferases
|
|
|
rs17021918t
|
|
|
nocturnal
|
|
|
best
|
|
|
oceanic
|
|
|
benzylbenzamide
|
|
|
ddimer
|
|
|
contentactivity
|
|
|
centerlung
|
|
|
tgfbeta1responsive
|
|
|
bookmarking
|
|
|
v64i
|
|
|
conceptual
|
|
|
cryptvillus
|
|
|
lmp1ctar1induced
|
|
|
hypertrabeculationnoncompaction
|
|
|
cullin
|
|
|
subcellularly
|
|
|
drb4010101
|
|
|
eukaryotic
|
|
|
thr681
|
|
|
carbon
|
|
|
delta12pgj2
|
|
|
ampkbeta1
|
|
|
ampkbeta2
|
|
|
jurkaat
|
|
|
jasplakinolide
|
|
|
ubap2
|
ubiquitin associated protein 2|The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
|
ubap1
|
ubiquitin associated protein 1|This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
|
|
hdgf
|
hepatoma-derived growth factor|This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. This gene was thought initially to be located on chromosome X, however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
|
|
responseelement
|
|
|
adapter
|
|
|
pkciotamediated
|
|
|
p27kip1binding
|
|
|
desmosome
|
A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism.
|
|
pi3kaktmtornrf2
|
|
|
multigene
|
|
|
foxm1
|
forkhead box M1|The protein encoded by this gene is a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
|
|
adapted
|
|
|
brca1positive
|
|
|
extractable
|
|
|
myopathies
|
|
|
npmanaplastic
|
|
|
sahariya
|
|
|
fev10
|
|
|
alpha2aadrenergic
|
|
|
gbetagammabinding
|
|
|
linguistically
|
|
|
ers1
|
|
|
chromo
|
|
|
bisphenola
|
|
|
der22
|
|
|
dred
|
|
|
extraction
|
|
|
temphis
|
|
|
p16ink4ap14arf
|
|
|
cajallike
|
|
|
life
|
|
|
hps4
|
Hermansky-Pudlak syndrome 4|This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
|
npmmlf1
|
|
|
hospitalized
|
|
|
tubuloepithelial
|
|
|
envelopeinduced
|
|
|
tatdependent
|
|
|
t654i
|
|
|
lifr
|
leukemia inhibitory factor receptor alpha|This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
|
chile
|
|
|
child
|
|
|
ersr
|
|
|
tyrphosphorylated
|
|
|
znp510
|
|
|
trp120
|
|
|
adaptations
|
|
|
perilesional
|
|
|
sstr15
|
|
|
igan
|
|
|
carbamylated
|
|
|
timeintegrated
|
|
|
atxn7l3
|
ataxin 7-like 3|
|
|
a20
|
Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]
|
|
a21
|
|
|
a22
|
|
|
p62
|
|
|
a24
|
|
|
a25
|
|
|
hurdependent
|
|
|
p66
|
|
|
p68
|
|
|
strongyloidiasis
|
A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
|
|
amy1
|
|
|
tollil1
|
|
|
tpl2
|
|
|
kv101
|
|
|
hypervascularization
|
|
|
arfaptin1
|
|
|
cistrome
|
|
|
psgl1lselectin
|
|
|
mcp2ccl8
|
|
|
androgenresponsiveness
|
|
|
phosphorylationdriven
|
|
|
chp126
|
|
|
adnshl
|
|
|
chlonagiocytes
|
|
|
babies
|
|
|
g89d
|
|
|
involuting
|
|
|
disruptedinschizophrenia1
|
|
|
a2s
|
|
|
a2t
|
|
|
mir371
|
|
|
a2v
|
|
|
mir373
|
microRNA 373|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
aapnh
|
|
|
mir378
|
|
|
mir379
|
microRNA 379|microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
|
|
a2a
|
|
|
a2b
|
|
|
a2e
|
|
|
a2m
|
alpha-2-macroglobulin|Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin, thrombin and collagenase. A2M is implicated in Alzheimer disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. [provided by RefSeq, Jul 2008]
|
|
ranged
|
|
|
ccr5interacting
|
|
|
serca1a2a
|
|
|
g1082a
|
|
|
ventricles
|
|
|
g894
|
|
|
cd94nkg2
|
|
|
integrinalphavbeta3
|
|
|
selfassembles
|
|
|
methylcpg
|
|
|
monocytedepleted
|
|
|
singleturnover
|
|
|
kg1
|
|
|
tyr529
|
|
|
chaperonelike
|
|
|
rs503464
|
|
|
ideas
|
|
|
ptpmeg2
|
|
|
anabolism
|
The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones.
|
|
rechallenge
|
|
|
calf2
|
|
|
calf1
|
|
|
caregiver
|
|
|
complex1
|
|
|
caseparent
|
|
|
isomerism
|
|
|
e1aassociated
|
|
|
irradiated
|
|
|
alphatectorin
|
|
|
thickening
|
|
|
cnm
|
|
|
collections
|
|
|
oas1oas3oas2
|
|
|
mgnucleotide
|
|
|
cellinduced
|
|
|
adaptator
|
|
|
protdelta146167
|
|
|
hemopressin
|
|
|
irelevance
|
|
|
arlts1
|
|
|
hnrpul1
|
|
|
birth
|
|
|
flrg
|
|
|
massively
|
|
|
grb2ras
|
|
|
singlewavelength
|
|
|
oncogeneexpressing
|
|
|
proliferaton
|
|
|
complexe
|
|
|
dengue
|
|
|
proliferator
|
|
|
cdk1cdc2
|
|
|
integrinrack1faksrc
|
|
|
egr1betacatenin
|
|
|
complexi
|
An integral membrane complex that possesses NADH oxidoreductase activity. The complex is one of the components of the electron transport chain. It catalyzes the transfer of a pair of electrons from NADH to a quinone.
|
|
immunonegative
|
|
|
abscesses
|
|
|
ep1srcher2neu
|
|
|
ccr4expressing
|
|
|
tie2tie1
|
|
|
mcmbp
|
minichromosome maintenance complex binding protein|This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
|
|
unrearranged
|
|
|
people
|
|
|
ikkbinding
|
|
|
invasivity
|
|
|
prp4k
|
|
|
ns2b3
|
|
|
unattached
|
|
|
retrovirus
|
|
|
truncates
|
|
|
haemopoietic
|
|
|
fcs
|
|
|
parietal
|
|
|
hhgli
|
|
|
cellpolarity
|
Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns.
|
|
cirp
|
|
|
rasraf1mekerk
|
|
|
cirb
|
|
|
c1qg
|
|
|
p53independent
|
|
|
alteredhost
|
|
|
cbfbetamyh11
|
|
|
fxiia
|
|
|
intermedin
|
|
|
mst1driven
|
|
|
energy
|
|
|
barobiotrauma
|
|
|
fxiii
|
|
|
inkt
|
|
|
lefty
|
|
|
clearer
|
|
|
microrearrangements
|
|
|
shifting
|
|
|
squelching
|
|
|
crestderived
|
|
|
gasp2
|
|
|
vegfr2plk1
|
|
|
gasp1
|
|
|
rs3134615
|
|
|
integrinalphavbeta3erk12s100a4
|
|
|
ankyrinrepeatcontaining
|
|
|
c494ga
|
|
|
mi319
|
|
|
repellent
|
|
|
antirplp0
|
|
|
linc00467
|
|
|
fcd
|
|
|
stsinduced
|
|
|
igf1sclu
|
|
|
kcnd3
|
potassium channel, voltage gated Shal related subfamily D, member 3|Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]
|
|
kcnd2
|
potassium channel, voltage gated Shal related subfamily D, member 2|Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]
|
|
symporter
|
|
|
actl9
|
|
|
tsinhibiting
|
|
|
cucurbitacin
|
|
|
trafs
|
|
|
jcpyv
|
|
|
attrition
|
|
|
reducing
|
|
|
igmigdcd27
|
|
|
h48q
|
|
|
migrationstimulating
|
|
|
panorama
|
|
|
subcompartment
|
|
|
fec100
|
|
|
pes1
|
pescadillo ribosomal biogenesis factor 1|This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]
|
|
copynumber
|
|
|
happy
|
|
|
actinbinding
|
Interacting selectively and non-covalently with monomeric or multimeric forms of actin, including actin filaments.
|
|
conclusively
|
|
|
normalaltered
|
|
|
mir1405p
|
|
|
alphahemolysin
|
|
|
hemisphere
|
|
|
fpgs
|
folylpolyglutamate synthase|This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, the |
