GeneRIF Biological Term Annotations Dataset

Description Statements describing functions of genes distilled from biomedical publications
Measurement association by literature curation
Association gene-biological term associations from literature-supported statements describing functions of genes
Category structural or functional annotations
Resource Gene Reference Into Function
Citation(s)
Last Updated 2015 Apr 06
Stats
  1. 15201 genes
  2. 91042 biological terms
  3. 2549478 gene-biological term associations

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biological term Gene Sets

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
a0101
a02
a020101
a0201restricted
a0206
a03
a10
a102
a103
a105a105
a1082g
a108p
a10hoxa10
a11
a111t
a1166
a1166c
a1166cat2r1
a1188c
a118g
a119c
a12
a1267g
a1298c
a13
a131g
a131tsema3a
a1330v
a1438g
a148g
a1500e
a1555g
a1555g1595
a161t
a163g
a172
a1730g
a17893g
a18
a181v
a189
a18involved
a194t
a1954g
a19g
a1a1
a1a2
a1a2a3
a1a3
a1abca1
a1alphalysophosphatidic
a1at
a1b8
a1bg alpha-1-B glycoprotein|The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]
a1c
a1c3a4a5
a1cyclin
a1domain
a1mediated
a1pim
a1r
a1rs
a1up1
a20 Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930]
a202c
a2044g
a2058
a20c
a20deficient
a20mediated
a21
a218c
a218g
a22
a222v
a223g
a2301
a23187
a23187induced
a2350gace
a238g
a23g
a24
a2402
a244v
a25
a2501
a2578c
a2756g
a2780
a2780cp
a2780cp70
a2780taxol
a2790g
a285222
a287p
a2962g
a299g
a2a
a2a2
a2aadenosine
a2aar
a2activating
a2ad2
a2alpha
a2ap
a2ar
a2ard2r
a2areceptors
a2ars
a2b
a2b1
a2b2
a2bar
a2barklf4
a2bars
a2bp1
a2br
a2cdk2
a2containing
a2dependent
a2e
a2eladen
a2gamma
a2like
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]
a2mg
a2mileval
a2mvalval
a2p11
a2positive
a2re
a2s
a2s100a10
a2subunit
a2t
a2v
a3001
a3012
a308a
a30p
a31
a3101
a312h
a313g
a315t
a316g
a3201
a3243g
a33
a33exos
a341v
a341vkcne1
a341vkcnq1kcne1
a35931c
a36
a370t
a375
a375s2
a386g
a387p
a388g
a392g
a39526aa
a39r
a3a
a3ar
a3b
a3d8
a3f
a3g
a3h
a3induced
a3ip
a3r
a419c
a431
a4401g
a457h
a46
a487a
a4889g
a489
a498
a501
a503v
a509v
a53t
a54
a549
a549cddp
a549ddp
a55v
a572v
a590t
a5activated
a61g
a65s
a66g
a670g
a673
a67g
a67t
a6986g
a69s
a6b1
a6g
a7445g
a761
a779c
a77g
a7r5
a80g
a816c
a8186
a821
a8344g
a839g
a861g
a87t
a880t
a89
a8923c
a8oxog
a8s100
a91vprf1
a922g
a986s
aa2m
aa307312
aa7690
aaa
aaaa
aaaag2
aaaassociated
aaaatpase
aaac
aaaca11
aaag
aaahs
aaas achalasia, adrenocortical insufficiency, alacrimia|The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
aaat
aaathe
aabs
aac
aac11
aaca
aacc
aacetylcholinesterase
aacid
aacs acetoacetyl-CoA synthetase|
aactivation
aacvribalk4smaddependent
aacytidine
aad
aadhd
aadinduced
aaf
aag
aag8
aaga
aagc
aagenotype
aah
aai
aaidna
aak1 AP2 associated kinase 1|Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
aallele
aalpha
aam
aamp angio-associated, migratory cell protein|The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]
aanat aralkylamine N-acetyltransferase|The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
aanatasmtmelatonin
aanchoring
aand
aandor
aao
aap
aapcs
aapnh
aar Catalysis of the reaction: L-2-aminoadipate 6-semialdehyde + NADP+ + H2O = L-2-aminoadipate + NADPH + H+.
aare
aars2 alanyl-tRNA synthetase 2, mitochondrial|The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
aarthritis
aas
aasociated
aassociated
aat
aat1
aataaa
aatd
aatf apoptosis antagonizing transcription factor|The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]
aatients
aatil8
aatt
aau
aauaaa
aauthere
aav
aav2
aav5
aav8mediated
aavmediated
aavs
ab1 Strain of C. elegans described with phenotypes such as; increased social feeding, foraging behavior variant, carbon dioxide response variant, bordering
ab142
ab18
ab192
ab42
ab814
abacavir
abad
abadabeta
abadinhibiting
abalphac
aband The dark-staining region of a sarcomere, in which myosin thick filaments are present; the center is traversed by the paler H zone, which in turn contains the M line.
abandon
abandonment
abands
abasic
abat 4-aminobutyrate aminotransferase|4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
abbased
abberant
abbp1
abbreviated
abc
abc1
abc50
abca
abca1 ATP-binding cassette, sub-family A (ABC1), member 1|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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]
abca12 ATP-binding cassette, sub-family A (ABC1), member 12|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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
abca1apoai
abca1dependent
abca1g1
abca1hcbs
abca1independent
abca1linked
abca1mediated
abca1r219k
abca1specific
abca2 ATP-binding cassette, sub-family A (ABC1), member 2|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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
abca3 ATP-binding cassette, sub-family A (ABC1), member 3|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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
abca4 ATP-binding cassette, sub-family A (ABC1), member 4|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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
abca4deficient
abca5 ATP-binding cassette, sub-family A (ABC1), member 5|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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
abca6 ATP-binding cassette, sub-family A (ABC1), member 6|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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]
abca7 ATP-binding cassette, sub-family A (ABC1), member 7|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 ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]
abca7rs3764650
abca8 ATP-binding cassette, sub-family A (ABC1), member 8|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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
abcb
abcb1 ATP-binding cassette, sub-family B (MDR/TAP), member 1|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. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. [provided by RefSeq, Jul 2008]
abcb10 ATP-binding cassette, sub-family B (MDR/TAP), member 10|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. The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008]
abcb11 ATP-binding cassette, sub-family B (MDR/TAP), member 11|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. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
abcb1abcb4
abcb1abcc4
abcb1abcg2review
abcb1mdr1
abcb4 ATP-binding cassette, sub-family B (MDR/TAP), member 4|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 as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
abcb5 ATP-binding cassette, sub-family B (MDR/TAP), member 5|ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
abcb5positive
abcb6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)|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 as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]
abcb7 ATP-binding cassette, sub-family B (MDR/TAP), member 7|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 as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
abcb8 ATP-binding cassette, sub-family B (MDR/TAP), member 8|This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
abcc1 ATP-binding cassette, sub-family C (CFTR/MRP), 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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]
abcc1mrp1
abcc2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2|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 MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]
abcc3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3|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 MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
abcc4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4|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 MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
abcc4abcc4
abcc4mrp4
abcc5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5|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 MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing of this gene has been detected; however, the complete sequence and translation initiation site is unclear. [provided by RefSeq, Jul 2008]
abcc6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6|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). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
abcc6p1
abcc7
abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8|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 MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
abcc8kcnj11
abcd
abcd1 ATP-binding cassette, sub-family D (ALD), 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 ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
abcd2 ATP-binding cassette, sub-family D (ALD), member 2|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 ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]
abcd3 ATP-binding cassette, sub-family D (ALD), member 3|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 ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
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]
abcf1 ATP-binding cassette, sub-family F (GCN20), 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 GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]
abcf1in
abcf2 ATP-binding cassette, sub-family F (GCN20), member 2|This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding casette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Jul 2013]
abcg1 ATP-binding cassette, sub-family G (WHITE), 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 White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]
abcg1dependent
abcg1mediated
abcg1specific
abcg2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)|The membrane-associated protein encoded by this gene is included in 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 White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
abcg2abcg2
abcg2bcrp
abcg2dependent
abcg2mediated
abcg2overexpressing
abcg4 ATP-binding cassette, sub-family G (WHITE), member 4|The protein encoded by this gene is included in 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 White subfamily and is expressed predominantly in liver tissue. The function has not yet been determined but may involve cholesterol transport. Alternate splice variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
abcg5 ATP-binding cassette, sub-family G (WHITE), member 5|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 White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
abcg58
abcg5abcg8
abcg5g8
abcg8 ATP-binding cassette, sub-family G (WHITE), member 8|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 White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
abcg8mediated
abcgg5
abciximab
abclip
abcp
abcr
abcrystallin
abctransporter Catalysis of the reaction: ATP + H2O = ADP + phosphate, to directly drive the active transport of a substance across a membrane.
abctransporters
abd
abd1556
abdeltac
abdomen 1: The part of the body between the thorax and the pelvis; also: the cavity of this part of the trunk containing the chief viscera. 2: The posterior section of the body behind the thorax in an arthropod.
abdominaal
abdominal
abelson
aberrance
aberrancies
aberrant
aberrantly
aberration
aberrations
abeta
abeta111
abeta140
abeta142
abeta142induced
abeta142reactive
abeta2535
abeta34
abeta40
abeta4042
abeta42
abeta4240
abeta4243
abeta42abeta40
abeta42induced
abeta42lowering
abeta42peptidetumor
abetaactivated
abetaassociated
abetabinding
abetadegrading
abetadependent
abetaindependent
abetainduced
abetalipoproteinaemia
abetalipoproteinemia A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).
abetamediated
abetaos
abetapeptide
abetapositive
abetapp
abetappnull
abetapppresenilin1
abetarelated
abetas
abf1
abg
abh
abh2
abh3
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]
abhydrolase
abi
abi1 abl-interactor 1|This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. 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 14. [provided by RefSeq, Sep 2011]
abi1bridged
abi1mediated
abi2 abl-interactor 2|
abi3 ABI family, member 3|This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
abidia
abilities
ability
abin
abin1
abin12
abin2
abin3
abinding
abinduced
abinsensitive
abiraterone
abiwave
abl
abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase|This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
abl1dependent
abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase|This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
abl2arg
ablate
ablated
ablates
ablating
ablation
ablbcr
ablcrkii
able
ablebodied
ablevoked
ablinteractor
ablkinase
ablmediated
abloop
ablrelated
ablumenal
abluminal
abmd
abmediated
abmr
abnormal
abnormalities
abnormality
abnormalization
abnormally
abnormity
abo ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)|This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]
aboincompatible
abolish
abolished
abolishes
abolishing
abolishment
abolition
aboriginal
aborigines
aborted
abortion
abortions
abortive
abortus
abounds
about
above
abovecited
abovemedian
abovementioned
abovenormal
abox
abp
abp1
abpa
abpositive
abrasively
abraxas
abrin
abro1
abrogate
abrogated
abrogates
abrogatesil6
abrogating
abrogation
abrupt
abruptio
abruption
abruptionassociated
abruptly
abs
abscence
abscess
abscesses
abscessus
abscission The controlled shedding of a body part.
absence
absense
absent
absentc1
absentgstm1
absentlow
absentreduced
absolute
absolutely
absorbance
absorbed
absorbing
absorption
absorptive
abstain
abstinence
abstinent
abstract
abt199
abt737
abt869
abundance
abundances
abundant
abundantly
abuse
abusedependence
abusereview
abusers
abusing
abutting
abvd
abysmal
ac1
ac1166
ac130710
ac133
ac133cd34
ac1cftr
ac2
ac3123
ac333
ac4
ac5
ac6
ac7
ac8
ac9
aca
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]
acaca acetyl-CoA carboxylase alpha|Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
acacb acetyl-CoA carboxylase beta|Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]
acaccc
acacetin
acad A T cell apoptotic process that occurs towards the end of the expansion phase following the initial activation of mature T cells by antigen via the accumulation of pro-apoptotic gene products and decrease in anti-apoptotic gene products.
academic
acadian
acalculous
acan aggrecan|This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]
acanthamoeba
acantholysis The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
acantholytic
acanthoma
acanthosis
acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1|
acap4
acapositive
acapsular
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.
acas
acat
acat1 acetyl-CoA acetyltransferase 1|This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]
acat2 acetyl-CoA acetyltransferase 2|The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
acatcholesterol
acativation
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]
acbd3interacting
acbp
acc
acc1
acc2
acca
accalpha
accampepac
accbeta
accc
accdlpfc
accelerate
accelerated
accelerates
accelerating
acceleration
accelerationdeceleration
accelerator
accentuate
accentuated
accentuates
accentuating
accept
acceptable
acceptance
accepted
acceptible
accepting
acceptor
acceptor1
acceptorbleaching
acceptors
accepts
access
accessibility
accessible
accessing
accession
accessory
accf
accg
accident
accidental
accidents
acclimation
acclimatization
accmybnfib
accommodate
accommodated
accommodates
accommodating
accommodation
accompanied
accompanies
accompaniment
accompany
accompanying
accomplish
accomplished
accomplishes
accomplishment
accord
accordance
accorded
according
accordingly
account
accountable
accounted
accounting
accounts
accreta
accretion
accrual
accrued
accumbens
accumulate
accumulated
accumulates
accumulating
accumulation
accumulationdeficient
accumulationfoam
accumulations
accumulative
accuracies
accuracy
accurate
accurately
acd adrenocortical dysplasia homolog (mouse)|This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
acdase
acdk
acdk1
acdk12
acdk2
acdk2dependent
acdkdependent
acdks
acdl
acdmpv
ace angiotensin I converting enzyme|This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]
ace1
ace2 angiotensin I converting enzyme 2|The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. The organ- and cell-specific expression of this gene suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronaviruses SARS and HCoV-NL63. [provided by RefSeq, Jul 2008]
ace2ang17mas
acea2350g
aceace2
aceae
aceagt
acecough
acedd
acei
aceid
aceinhibitor
aceis
acellular
acemerin
acenocoumarol
acentriolar
acentrosomal
acer
acer2
acer2sphingosine
acesulfame
acetabular
acetal
acetaldehyde The aldehyde formed from acetic acid by reduction of the carboxy group. It is the most abundant carcinogen in tobacco smoke.
acetaldehydedna
acetaldehydeinduced
acetaminophen
acetaminopheninduced
acetate
acetateactivated
acetatebound
acetateinduced
acetatepdgfbb
acetateresponsive
acetoacetylcoa
acetonide
acetyl
acetylase
acetylasecoactivator
acetylasedeacetylase
acetylatation
acetylate
acetylated
acetylatedfoxo
acetylates
acetylating
acetylation
acetylationbim
acetylationdeacetylation
acetylationdependent
acetylationexchange
acetylationh12
acetylationmediated
acetylationphosphorylation
acetylations
acetylator
acetylators
acetylcholine
acetylcholineesterase
acetylcholineinduced
acetylcholinesterase
acetylcoa
acetylcoacarboxylase
acetylcoenzyme
acetylglucosamine
acetylhydrolase
acetylized
acetyllysine
acetyllysinebinding
acetylmethyl
acetylsalicylic
acetyltranferasescbp
acetyltransferase
acetyltransferases
acf
acf1
acf1snf2h
acf7
acfso
acg
acgh
acgt
acgtct
ach
ach4
achaete
achaetescute
achain
achaindomain
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.
achang
achblf
ache An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
achebuche
acher
acheron
aches An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
achet
achievable
achieve
achieved
achievement
achievements
achieves
achieving
achilles
achinduced
achinery
achn
achr
achrgamma
achromatopsia A color blindness that is characterized by a congenital color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
achromats
achrs
aci
acicc
acid
acidactivated
acidaemia
acidb
acidbase
acidbased
acidbetaglucosidase
acidbinding
acidbound
acidcoa
acidcontaining
acidcoupled
aciddependent
aciddeprived
aciddifferentiated
acidelicited
acidemia
acidenhanced
acidergic
acidfast
acidgated
acidgrip1
acidic
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.
acidified
acidify
acidindependent
acidinduced
acidinducible
acidity
acidlabile
acidlinoleic
acidlysine
acidlysophosphatidic
acidmediated
acidmetabolizing
acidmodified
acidophilus
acidosis Abnormal acid accumulation or depletion of base.
acidosisgpr4
acidosisinduced
acidosismediated
acidotic
acidp2y5
acidphospholipase
acidproducing
acidra
acidregulated
acidrelated
acidresponsive
acidrich
acids
acidsa
acidscan
acidsensing
acidsensitive
acidspecific
acidstable
acidstarved
acidstimulated
acidsubstituted
acidthe
acidtreated
acidtriggered
acidunfolded
aciduria Ecretion of urine with an acid pH.
acidurias
acinar
acinartoductal
acinetobacter
acini
acinic
acinus
acinusdependent
acinusmediated
acis
acitivation
acitivty
acitvation
acivity
ack
ack1
ack1dependent
ack1mig6
ack2
acknowledged
ackr3
acl
aclass
acldl
aclfhbv
aclfpatients
aclp
acly ATP citrate lyase|ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]
acmpag
acn
acne A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.
acnes
acnesinduced
acnp
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]
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]
acociate
aconitase
aconitaseirp1
acontaining
acot4 acyl-CoA thioesterase 4|
acot8 acyl-CoA thioesterase 8|The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]
acoustic
acox1 acyl-CoA oxidase 1, palmitoyl|The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
acp
acp1 acid phosphatase 1, soluble|The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]
acp1aada12
acp1c
acp5 acid phosphatase 5, tartrate resistant|This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]
acpa
acpanegative
acpapositive
acpl1
acquire
acquired
acquirement
acquires
acquiring
acquisita
acquisition
acr acrosin|Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008]
acr16
acral
acreb
acreb1
acrebpgc1alpha
acrich
acridine
acrocallosal
acrodermatitis
acrodysostosis A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
acrofacial
acrolein An enal that is prop-2-ene with an oxo group at position 1.
acroleininduced
acromegalic
acromegaly A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
acromelic
acromesomelic
acromicric
acrorenalocular
acrosin
acrosomal
acrosome A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.
across
acrp30
acrylamide A member of the class of acrylamides that results from the formal condensation of acrylic acid with ammonia.
acrystallin
acs
acs5
acsl
acsl1 acyl-CoA synthetase long-chain family member 1|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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
acsl3 acyl-CoA synthetase long-chain family member 3|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 is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
acsl35
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]
acss2 acyl-CoA synthetase short-chain family member 2|This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
act
act1
act1traf6
act1traf6tak1mediated
act1v1d19n
act1v2d10n
acta
acta2 actin, alpha 2, smooth muscle, aorta|The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
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]
actbgli
actc
acted
actg1 actin gamma 1|Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
actg2 actin, gamma 2, smooth muscle, enteric|Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]
acth
acthcamp
acthdependent
acthindependent
acthinduced
acthmc2r
acthr
acthsecreting
acthstimulated
acti
actigraphyderived
actin
actinactivated
actinassociated
actinbased
actinbinding Interacting selectively and non-covalently with monomeric or multimeric forms of actin, including actin filaments.
actinbundling
actincapping
actincontaining
actincrosslinking The process in which two or more actin filaments are connected together by proteins that act as crosslinks between the filaments. The crosslinked filaments may be on the same or differing axes.
actincytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
actincytoskeletonbased
actindependent
actindepolymerizing
actinegfp
actinencoding
actinenriched
actinfilament A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane.
acting
actinic
actinin
actinin1
actinin2
actinin3
actinin4
actinlike
actinlinking
actinmediated
actinmkl1
actinmyosin
actinmyosiniibinding
actinnucleating
actinobacillus
actinomycetemcomitans
actinomycin
actinpositive
actinregulating
actinrelated
actinrich
actins
actinsevering
actinstabilizing
actinstress
actintropomyosin
action
actionable
actions
activ
activat
activatable
activate
activated
activatedeffector
activatedphosphorylated
activates
activati
activating
activatio
activationap1
activationare
activationassociated
activationbax
activationdeactivation
activationdegradation
activationdegranulation
activationdependent
activationdetoxication
activationdifferentiation
activationfor
activationinactivation
activationindependent
activationinduced
activationinvasiveness
activationloop
activationmediated
activationphosphorylation
activationpromoted
activationregulated
activationrepression
activationreview
activations
activationspecific
activationstate
activationstimulated
activationtermination
activativates
activator
activatorbinding
activatordependent
activatorfree
activatorinduced
activatorlike
activatormediated
activatorplasmin
activatorpromoter
activators
activatorstimulated
activatory
activatted
active
activeandrostane
actived
activeform
activeigf1r
activeligandbinding
actively
activemature
activemmp2
actives
activesite
activi
activiation
activin
activina
activinalk4
activinaresponsive
activinbetac
activinbmp
activininduced
activinlike
activinmediated
activinnodal
activinregulated
activins
activinstimulated
activities
activition
activitity
activitiy
activityassociated
activitybased
activitydependent
activityindependent
activityinduced
activityloss
activitymodifying
activityof
activityreducing
activityrelated
activityreview
activiy
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]
actl9
actn1 actinin, alpha 1|Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
actn3 actinin, alpha 3 (gene/pseudogene)|This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]
actn3ace
actn4 actinin, alpha 4|Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]
actn4mediated
actomyosin Any complex of actin, myosin, and accessory proteins.
actomyosindriven
actomyosinmediated
actopaxin
actor
actors
actr
actre2f1
actrib
actrii
actriia
actriib
acts
actual
actually
actuarial
actuator
acuity
acuminata
acuminatum
acupuncture
acure
acute
acutely
acuteonchronic
acutephase
acutetype
acutte
acv
acvr1 activin A receptor, type I|Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
acvr1b activin A receptor, type IB|This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
acvr2
acvr2b activin A receptor, type IIB|Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]
acvrl1 activin A receptor type II-like 1|This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
acvrl1activin
acvrl1alk1
acvrl1smad1
acw
acyanotic
acyclindependent
acyclovir An oxopurine that is guanine substituted by a (2-hydroxyethoxy)methyl substituent at position 9.
acyl
acylaminoacylpeptidase
acylated
acylation
acylationdeacylation
acylationstimulating
acylcarnitine
acylcarnitines
acylcoa
acylcoas
acylcoenzyme
acylglycerols
acylmodified
acyloxy
acylphosphatase
acylprotein
acyltransferase
acyltransferase1
acyltransferases
ad01
ad1
ad11
ad12
ad158
ad2
ad3
ad31
ad4bpsf1
ad4bpsf1binding
ad4bpsf1dependent
ad5
ad5e1a
ada adenosine deaminase|This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
ada1
ada2
ada2a
ada2b
ada3
adadeficient
adalimumab
adam
adam10 ADAM metallopeptidase domain 10|Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. [provided by RefSeq, Jul 2008]
adam1017
adam10adam17
adam10dependent
adam10dll4
adam10mediated
adam12 ADAM metallopeptidase domain 12|This gene encodes a member of a family of proteins that are 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. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
adam12l
adam12m
adam12s
adam15 ADAM metallopeptidase domain 15|The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
adam15b
adam15v2
adam17 ADAM metallopeptidase domain 17|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 biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene functions as a tumor necrosis factor-alpha converting enzyme; binds mitotic arrest deficient 2 protein; and also plays a prominent role in the activation of the Notch signaling pathway. [provided by RefSeq, Jul 2008]
adam17cleaved
adam17controlled
adam17dependent
adam17egfr
adam17mediated
adam17tace
adam19 ADAM metallopeptidase domain 19|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. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013]
adam22 ADAM metallopeptidase domain 22|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. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]
adam23 ADAM metallopeptidase domain 23|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. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]
adam27
adam28 ADAM metallopeptidase domain 28|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 is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
adam28s
adam29 ADAM metallopeptidase domain 29|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 is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
adam33 ADAM metallopeptidase domain 33|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. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
adam7
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]
adam910mediated
adamantiadesbehcets
adamantinomatous
adamantyl
adamantylsubstituted
adamhbegfdependent
adamindependent
adaminduced
adammediated
adams
adamsoliver
adamts
adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]
adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10|This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]
adamts12 ADAM metallopeptidase with thrombospondin type 1 motif, 12|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]
adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13|This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
adamts13cleavable
adamts13dependent
adamts13mediated
adamts13vwf
adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. This gene is highly similar to two family members, ADAMTS2 and ADAMTS3, in its sequence and gene structure, and the encoded protein shares the aminoprocollagen peptidase activity with the protein products encoded by ADAMTS2 and ADAMTS3. Various transcript variants of this gene have been identified. They result from the use of two different promoters and transcription initiation sites as well as alternative splicing sites. The full length nature of some transcripts has not been defined. [provided by RefSeq, Jul 2008]
adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the proteins encoded by ADAMTS1 and ADAMTS8. [provided by RefSeq, Jul 2008]
adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS18, another family member. [provided by RefSeq, Jul 2008]
adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. It is thought to function as a tumor suppressor. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
adamts19 ADAM metallopeptidase with thrombospondin type 1 motif, 19|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]
adamts1mediated
adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. It is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The cleavage of aggrecan and brevican suggests key roles of this enzyme in arthritic disease and in the central nervous system, potentially, in the progression of glioma. [provided by RefSeq, Jul 2008]
adamts4v1
adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs and functions as aggrecanase to cleave aggrecan, a major proteoglycan of cartilage. [provided by RefSeq, Jul 2008]
adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7|The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two C-terminal TS motifs. [provided by RefSeq, Jul 2008]
adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. [provided by RefSeq, Jul 2008]
adamts9 ADAM metallopeptidase with thrombospondin type 1 motif, 9|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. [provided by RefSeq, Jul 2008]
adamts9as2
adamtsl2 ADAMTS-like 2|This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]
adamtsl4 ADAMTS-like 4|This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]
adamtsl6beta
adamtslike
adap
adap1 ArfGAP with dual PH domains 1|
adapt
adaptability
adaptable
adaptation
adaptations
adaptative
adaptatively
adaptator
adapted
adapter
adapterlike
adapters
adapterscaffold
adaptin
adapting
adaption
adaptive
adaptively
adaptor
adaptorlike
adaptorrelated
adaptors
adaptorspecific
adapts
adar adenosine deaminase, RNA-specific|This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
adar1
adar2
adars
adascid
adassociated
adbr2
adc
adca
adcc Cytolysis of target cells by natural killer cells, eosinophils, neutrophils, monocytes, or macrophages following engagement of antibodies bound to the target cells by Fc receptors on the effector cells.
adck4 aarF domain containing kinase 4|This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
adcs
adcy2 adenylate cyclase 2 (brain)|This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]
adcy3 adenylate cyclase 3|This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. [provided by RefSeq, Jul 2008]
adcy5 adenylate cyclase 5|This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
adcy6 adenylate cyclase 6|This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]
adcy8 adenylate cyclase 8 (brain)|Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]
adcyap1 adenylate cyclase activating polypeptide 1 (pituitary)|This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
add
add1 adducin 1 (alpha)|Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
add2 adducin 2 (beta)|Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]
add3 adducin 3 (gamma)|Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]
adddiction
added
addicted
addiction Disorders related to substance abuse, the side effects of a medication, or toxin exposure.
addictionreview
addictions
addictive
addicts
adding
addison
addisons
addition
additional
additionally
additions
additive
additively
additives
additivism
additivity
addon
address
addressed
addresses
addressing
adds
adducin
adducins
adduct
adductcontaining
adducted
adduction
adducts
ade
adecatumumab
adeficient
adefovir
adehesiveness
adem
ademoma
adenine
adeninerich
adenines
adenineuridinerich
adeninguanine
adenitis
adenoassociated
adenocarcinoa
adenocarcinogenesis
adenocarcinom
adenocarcinoma A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization.
adenocarcinomaassociated
adenocarcinomaderived
adenocarcinomagenesis
adenocarcinomainitiating
adenocarcinomaprevalent
adenocarcinomas A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization.
adenocarcinomathis
adenocarcinomato
adenocarcioma
adenocarconima
adenocarinoma
adenocarinomas
adenocystic
adenohypophyseal
adenoid An enlarged mass of lymphoid tissue at the back of the pharynx characteristically obstructing breathing.
adenoidal
adenoids
adenoma A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.
adenomaadenocarcinoma
adenomacarcinoma
adenomapolyps
adenomas A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.
adenomatoid
adenomatosis
adenomatous
adenomyoma A carcinosarcoma that has_material_basis_in gland and muscle components.
adenomyosis
adenomyosisassociated
adenomyotic
adenopathy
adenosine A ribonucleoside composed of a molecule of adenine attached to a ribofuranose moiety via a beta-N(9)-glycosidic bond.
adenosine35diphosphate
adenosinea3
adenosinedependent
adenosineelicited
adenosineinduced
adenosinemediated
adenosineproducing
adenosinerelated
adenosinergic
adenosinestimulated
adenosineuridine
adenosineuridinerich
adenosquamous
adenosylcobalamin
adenosyltransferase
adenotonsillar
adenoviral
adenoviralinfected
adenoviralmediated
adenovirus
adenoviruscontaining
adenovirusdelivered
adenoviruses
adenovirusinduced
adenovirusinfected
adenovirusmediated
adenovirusp53
adenovirusreic
adenovirustransformed
adenyl
adenylate
adenylated
adenylation
adenylosuccinate
adenylyl
adenylyltransferase
adenylyltransferases
adeoncarcinoma
adependent
adequacy
adequate
adequately
adf
adfakcdinduced
adfcofilin
adfcofilin1dependent
adfp
adh
adh1
adh1a alcohol dehydrogenase 1A (class I), alpha polypeptide|This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]
adh1b alcohol dehydrogenase 1B (class I), beta polypeptide|The protein encoded by this gene 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. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
adh1b11
adh1b2
adh1badh1cadh7
adh1baldh2
adh1c
adh1c11
adh1c12
adh1c22
adh1c22mthfr
adh2
adh21
adh22
adh3
adh31
adh32
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]
adh5 alcohol dehydrogenase 5 (class III), chi polypeptide|This gene encodes 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 encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]
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]
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)
adhdct
adhdi
adhdwith
adhere
adhered
adherence
adherens
adherent
adherentinvasive
adherents
adhering
adhesin
adhesion
adhesionaggregation
adhesionassociated
adhesioncomplex
adhesiondependent
adhesiongrowthdependent
adhesionindependent
adhesioninduced
adhesioninducing
adhesionlocalized
adhesionmediated
adhesionmigration
adhesionrelated
adhesions
adhesionsignaling
adhesionsurvival
adhesiontargeting
adhesios
adhesive
adhesiveness
adhf
adhmediated
adhsp
adhu5apoptin
adhx9
adiopr1
adiose
adipo
adipocyte One of the fat-laden cells making up adipose tissue.
adipocytederived
adipocytelike
adipocytes
adipocytespecific
adipocytic
adipocytokine
adipocytokines
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.
adipogenesisdependent
adipogenic
adipoimmune
adipoinsular
adipokine
adipokines
adiponectin
adiponectinemia
adiponectinil10
adiponectininduced
adiponectinleptin
adiponectinmediated
adiponectinregulated
adiponectinresistin
adiponectins
adiponectinstimulated
adiponectinsuggesting
adiponectintcadherin
adiponectintoleptin
adiponection
adiponectionleptin
adiponutrin
adiponutrinpnpla3
adipophilin
adipoq adiponectin, C1Q and collagen domain containing|This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
adipor
adipor1 adiponectin receptor 1|This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]
adipor12
adipor1adipor2
adipor1adipor2appl1
adipor1dependent
adipor1independent
adipor1r2
adipor1specific
adipor2 adiponectin receptor 2|The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]
adipor2play
adipose
adiposederived
adiposeliver
adiposetissue
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).
adiposityrelated
adiposomes
adipsin
adirf3
adjacent
adjacently
adjhr185
adjhr244
adjoining
adjudicated
adjunct
adjunctive
adjuncts
adjust
adjustable
adjusted
adjusting
adjustment
adjustments
adjusts
adjuvant
adjuvants
adl
adld
adlike
adlte
adm adrenomedullin|The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014]
adma
admaindependent
admainduced
admidas
administered
administering
administration
administrationapproved
admission
admissions
admitted
admixed
admixture
admp
admr
admscs
adn
adnd
adnexa
adnexal
adnfle
adnos1
adnos3
adnp activity-dependent neuroprotector homeobox|Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
adnp2 ADNP homeobox 2|
adnrf2
adnshl
adoa
adocbl
adohcy
adolescence
adolescent
adolescents
adolescentsdrinking
adolescentsyoung
adolscent
adomain
adomet
adometdc
adopt
adopted
adopting
adoption
adoptive
adoptively
adopts
adora1 adenosine A1 receptor|The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
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]
adp A purine ribonucleoside 5'-diphosphate having adenine as the nucleobase.
adpactin
adpactivated
adpathology
adpatp
adpbinding Interacting selectively and non-covalently with ADP, adenosine 5'-diphosphate.
adpbound
adpdependent
adpinduced
adpkd
adpkinesin
adpmediated
adpmutsalphaatp
adppotentiation
adpr
adpr1
adpribose
adpribosyl
adpribosylated
adpribosylating
adpribosylation
adpribosyltransferase
adpribosyltransferases
adprotective
adprt
adprt1
adprtxrcc1
adpstimulated
adpten
adpttg
adpunc104
adr
adra1a adrenoceptor alpha 1A|Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008]
adra1c
adra1d adrenoceptor alpha 1D|Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]
adra2a adrenoceptor alpha 2A|Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
adra2b adrenoceptor alpha 2B|This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]
adra2c adrenoceptor alpha 2C|Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
adrb1 adrenoceptor beta 1|The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008]
adrb12
adrb2 adrenoceptor beta 2, surface|This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq, Jul 2008]
adrb2elucc
adrb2rs1800888thr164ile
adrb2tlr2
adrb3 adrenoceptor beta 3|The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. [provided by RefSeq, Feb 2009]
adrbeta2
adrbk2 adrenergic, beta, receptor kinase 2|The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]
adrelated
adrenal
adrenalectomy
adrenaline A catecholamine in which the aminoethyl side-chain is hydroxy-substituted at C-1 and methylated on nitrogen.
adrenals
adrenarche
adrenergic
adrenoceptor
adrenoceptors
adrenocortical
adrenocorticotropic
adrenocorticotropinproducing
adrenodoxin
adrenoleukodystrophy A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
adrenomedullary
adrenomedullin
adrenomedullinadrenomedullin
adrenomedullinevoked
adrenomedullinramp2
adrenomyeloneuropathy
adrenopeptidergic
adrenoreceptor
adrenoreceptors
adriamycin
adriamycininduced
adriamycinresistant
adriven
adrm1 adhesion regulating molecule 1|This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
adrp
adrpperilipin
adrs
ads
adsc
adscs
adscscm
adsl adenylosuccinate lyase|Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
adsorb
adsorbed
adsorption
adsorptioninduced
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]
adt
adtrp androgen-dependent TFPI-regulating protein|
aduckhubeil12004
adult Fully developed and mature: GROWN-UP.
adulthood
adultlike
adultonset
adults
adulttype
advance
advanced
advancedmetastatic
advancedstage
advancement
advancements
advances
advancing
advantage
advantagedisadvantage
advantageous
advantageously
advantages
advent
adventitia
adventitial
adventitias
adventitious
adverse
adversely
adversities
adversity
advillin
advisable
advised
advocate
advocated
advocates
ae1
ae1slc4a1band
ae2
aea
aeblex
aebox
aebsf
aec
aeca
aecdk2
aeciis
aecpatient
aecs
aeds
aee788
aeg1
aeg1akt2
aeg1mtdh
aegean
aegfr
aej
ael
aemerin
aen apoptosis enhancing nuclease|
aeolicus
aep
aerd
aerobic
aerodigestive
aeromonas
aeruginosa
aeruginosadependent
aeruginosainduced
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]
aesilenced
aetfc
aetiological
aetiologies
aetiology
aetiopathogenesis
aetiopathology
aettreated
aexu
af1
af10
af10mediated
af15q14
af17
af1mediated
af1q
af2
af2dependent
af4
af4dependent
af4mll
af6
af6afadin
af6pdz
af9
af9dot1l
afabp
afabp4
afabpap2
afadin
afadr
afap
afap1 actin filament associated protein 1|The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
afap110
afap1l1 actin filament associated protein 1-like 1|
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.
afb1
afb1related
afbn
afebrile
aff1 AF4/FMR2 family, member 1|
aff234
aff3 AF4/FMR2 family, member 3|This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
affect
affectd
affected
affectedcd44
affecteds
affecting
affection
affective
affects
afferent
afferents
affibody
affiliation
affiliative
affin
affinities
affinity
affinityregulating
affirm
affirms
affixin
afflicted
afford
affordable
afforded
affords
affymetrix
afg3l2 AFG3-like AAA ATPase 2|This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]
afg3l2spg7paraplegin
afgf
afghanistan
afibrinogenemia
aflatoxin Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins
aflibercept
afm
aforementioned
afp alpha-fetoprotein|This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008]
afp4655
afpl3
afpnegative
afpproducing
afpr
afpromoting
africa
african Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity.
africanamerican A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.
africanamericans
africanbrazilian
africanbrazilians
africanderived
africans
africansbutstill
afrobrazilian
afrocaribbean
afrocaribbeans
afrs
afs
afsc
after
afterdepolarizations
afterdepolarizationstriggered
afterhyperpolarization
afterload
afternoon
aftiphilingammasynergin
aftiphilinp200gammasynergin
afu
afx
ag1478
ag49
ag490
ag73
aga aspartylglucosaminidase|Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2010]
agaa
agab
agac
again
agains
against
againstas
agalactiae
agamma
agamma201
agammaglobin
agammaglobulinemia A B cell deficiency that is caused by a reduction in all types of gamma globulins.
agammapromoterdriven
aganglionic
aganglionosis
agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2|The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
agar
agaritine
agarose
agarwal
agat
agbl1 ATP/GTP binding protein-like 1|Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]
agbl2 ATP/GTP binding protein-like 2|
agc
agc1
agcontaininguridinerich
agdriven
age A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting).
age3
ageadjusted
agean
ageassociated
ageatdiagnosisonset
ageatonset The age at which some process, or disease started in a human individual.
agebmimatched
agebsa
aged
agedependent
ageincidence
ageinduced
ageing A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death (GO:0016265) and may succeed developmental maturation (GO:0021700).
ageingrelated
agematched
agemodified
agenesis
agent
agentinduced
agents
agentsinduced
ageofonset
ageproteins
ager advanced glycosylation end product-specific receptor|The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
ager1
agerage
agerageinduced
ageragerelated
agerelated
ages
agespecific
agespecifically
agesrage
agexperienced
agg
aggc
aggf1 angiogenic factor with G patch and FHA domains 1|This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]
aggg
agglutination
agglutinin
aggravate
aggravated
aggravates
aggravating
aggravation
aggrecan
aggrecanase
aggrecanase1
aggrecanases
aggregability
aggregate
aggregatecentered
aggregated
aggregates
aggregatibacter
aggregating
aggregation
aggregationprone
aggregations
aggregative
aggregatory
aggresive
aggresome An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules.
aggresomelike
aggresomes
aggresometargeting
aggression A behavioral interaction between organisms in which one organism has the intention of inflicting physical damage on another individual.
aggressionrelated
aggressive
aggressiveimpulsive
aggressively
aggressiveness
aggressivity
aggt
aggtca
agindependent
aging A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death (GO:0016265) and may succeed developmental maturation (GO:0021700).
agingassociated
agingdelaying
agingdependent
agingprone
agingrelated
agitation
agk acylglycerol kinase|The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]
agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase|This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
agldl
agldllrp1
aglycone
agm Region where blood progenitor markers are expressed. Probable site of definitive hematopoiesis between 36hpf and 4dpf.
agmatinase
agmatine A primary amino compound that has formula C5H14N4.
agmediated
agn
agnoprotein
agnor
ago
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]
ago1gw182
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]
ago2cleaved
ago2f2v2
ago2nicked
ago2slicerdependent
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]
ago3dependent
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]
agomir
agonism
agonist
agonistactivated
agonistantagonist
agonistbinding
agonistbound
agonistdependent
agonistenhanced
agonistevoked
agonistfxr
agonistic
agonistindependent
agonistinduced
agonistmediated
agonistoccupied
agonistpromoted
agonistreceptor
agonists
agonistselective
agonistspecific
agoniststimulated
agoraphobia A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
agouti
agoutirelated
agp
agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1|This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2|This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3|The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5|This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014]
agpresenting
agr
agr2 anterior gradient 2|
agranulocytosis
agree
agreeableness
agreed
agreement
agreements
agrees
agressive
agressiveness
agricultural
agrin
agrinindependent
agrinmusk
agrinstimulated
agrnas
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]
ags
ags1
ags3
ags3galphai2
agspecific
agstimulated
agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8)|The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]
agtr1 angiotensin II receptor, type 1|Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Multiple alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Jul 2012]
agtr13utr
agtr1accc
agtr1c573t
agtr2 angiotensin II receptor, type 2|The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked mental retardation. [provided by RefSeq, Jan 2010]
agtrl1
aguag
agvhd
agvhdgrade
agxt alanine-glyoxylate aminotransferase|This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]
agxtproiileu
ah1n1
ah1n1pdm09
ah2
aha1
aha1hsp90
ahc
ahead
ahf
ahi1 Abelson helper integration site 1|This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
ahnak AHNAK nucleoprotein|
ahnak1
aholes
aholike
ahong
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]
ahrarnt
ahraryl
ahrdependent
ahre5
ahreralpha
ahrmediated
ahrr aryl-hydrocarbon receptor repressor|The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]
ahrrarnt
ahrrncoa2
ahrsignaling
ahsct
ahsg alpha-2-HS-glycoprotein|Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq, Jul 2008]
ahsp alpha hemoglobin stabilizing protein|
ahspalphahb
aht
ahus
ahusassociated
ahve
ahyperactivation
aia
aiabca1dependent
aib1
aib1and
aib1delta3
aib1delta4
aib1dependent
aib1src3
aib1targeted
aibp
aicar
aicardigoutieres
aicaribosiduria
aicd
aicda activation-induced cytidine deaminase|This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009]
aicdadependent
aicdatargeted
aicdfe65tip60
aichi
aiclexpressing
aid
aida1
aida1c
aiddependent
aide
aided
aiderived
aidinduced
aiding
aidl
aidmediated
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.
aidsassociated
aidsrelated
aif
aif1 allograft inflammatory factor 1|This gene is induced by cytokines and interferon. Its protein product is thought to be involved in negative regulation of growth of vascular smooth muscle cells, which contributes to the anti-inflammatory response to vessel wall trauma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
aifcypa
aifdependent
aifendogdependent
aifindependent
aifm1 apoptosis-inducing factor, mitochondrion-associated, 1|This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010]
aifm3 apoptosis-inducing factor, mitochondrion-associated, 3|
aifmediated
aifrelated
aig1 androgen-induced 1|
aigf1raspirs2valucp2
aigg
aih
aiha
aii
aiibb3dependent
aiiinitiated
aiimediated
ail
ailimicos
ailments
ailoh
aim
aim1 absent in melanoma 1|
aim2 absent in melanoma 2|AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]
aimed
aimediated
aiming
aimp
aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1|The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]
aimp1induced
aimp3
aimp3p18
aims
ain
aindependent
ainduced
ainhibited
aiolos
aip aryl hydrocarbon receptor interacting protein|The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
aip1
aip2
aip4
aip4arrestin2
aip4itch
aip5
aipc
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]
aipret
air
airap
airapl
airborne
aire autoimmune regulator|This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
aireexpressing
aireinduced
airemediated
airep63
airephd1
aireregulated
aires
airesistant
airflow
airliquid
airspace
airspaces
airwater
airway
airways
ais
aitd
aitds
aitl
aiv
aiway
ajc
ajcc
ajoeneinduced
ajs
ajuba ajuba LIM protein|
ak1 adenylate kinase 1|Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. [provided by RefSeq, Jul 2008]
ak4 adenylate kinase 4|This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]
ak7 adenylate kinase 7|
ak8 adenylate kinase 8|
aka
akap
akap12 A kinase (PRKA) anchor protein 12|The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
akap12a
akap13 A kinase (PRKA) anchor protein 13|The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]
akap149
akap149dakap1
akap150
akap220
akap3 A kinase (PRKA) anchor protein 3|This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]
akap350
akap350a
akap450
akap5 A kinase (PRKA) anchor protein 5|The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]
akap7 A kinase (PRKA) anchor protein 7|This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]
akap79
akap79150
akap9 A kinase (PRKA) anchor protein 9|The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]
akap95
akap9braf
akaplbc
akaps
akari
akathisia
aki
aki1
akin
akinase
akinaseanchoring
akinesia Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
akip1 A kinase (PRKA) interacting protein 1|This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
akita
akkaa
akna AT-hook transcription factor|
aknobs
akr
akr1
akr1b1 aldo-keto reductase family 1, member B1 (aldose reductase)|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]
akr1b10 aldo-keto reductase family 1, member B10 (aldose reductase)|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]
akr1b3
akr1b3produced
akr1c
akr1c1 aldo-keto reductase family 1, member C1|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
akr1c2 aldo-keto reductase family 1, member C2|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
akr1c3 aldo-keto reductase family 1, member C3|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
akr1c4 aldo-keto reductase family 1, member C4|This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
akr1d1 aldo-keto reductase family 1, member D1|The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
akt
akt1 v-akt murine thymoma viral oncogene homolog 1|The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]
akt12
akt12and
akt1and
akt1e17k
akt1gli3vmp1
akt1mediated
akt1myc
akt1nfkappabnotch1pten
akt2 v-akt murine thymoma viral oncogene homolog 2|This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins. [provided by RefSeq, Jul 2008]
akt2b23
akt2dependent
akt2foxo3a
akt3 v-akt murine thymoma viral oncogene homolog 3|The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
aktactivated
aktactivation
aktactive
aktand
aktask1
aktbad
aktbcl2
aktbetacatenin
aktbetacateninsnail
aktcaspase9
aktdependent
aktenos
aktenoshsp90
akterk
akterkmediated
aktezrin
aktfoxo
aktfoxo1
aktfoxo3a
aktfoxo3abim
aktfoxo3agsk3betaar
aktfoxo3agsk3betabetacateninar
aktfoxobim
aktfoxomyocardin
aktgirdin
aktgsk3
aktgsk3beta
aktgsk3betacdc25a
aktgsk3betacyclin
aktgsk3betasnail
akthif1alphapdgfbb
akthsf1
akthsp27
akti
aktikappab
aktindependent
aktinduced
aktinducible
aktinhibitory
aktip AKT interacting protein|The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
aktmammalian
aktmdm2p53
aktmediated
aktmir21
aktmtor
aktmtor4ebp1
aktmtorc1
aktmtorcip70s6k
aktmtordependent
aktmtorp70s6
aktmtorp70s6k
aktmtorp70s6k1
aktnfkappab
aktnfkappabdependent
aktnfkb
aktp21
aktp53
aktp70s6k
aktp70s6k1
aktpak1
aktphosphoinositide
aktphosphorylated
aktphosphorylation
aktpi3k
aktpi3kdependent
aktpkb
aktprotein
aktpten
aktptenmediated
aktregulated
akts473
akts6k
aktser473
aktsignaling A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
aktsrebp1
aktsurvivin
akttorc1
akttscmtorc1
al2tf
al3
ala
ala1
ala119
ala12
ala147thr
ala148thr
ala158
ala16val
ala16valsod2
ala222val
ala23thr
ala26val
ala288ser
ala379val
ala382thr
ala428
ala499val
ala52
ala558
ala55val
ala629
ala67thr
ala72
ala92
ala9val
alaala
alaallele
alabama
alabased
alacrimia
alad aminolevulinate dehydratase|The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. [provided by RefSeq, Jul 2008]
alad2
aladin
alagille
alagly
alamandine
alanine
alanineaspartate
alanineglyoxylate
alaninerich
alanines
alaninescanning
alarm
alarmin
alarmins
alas
alas1 5'-aminolevulinate synthase 1|This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
alas2 5'-aminolevulinate synthase 2|The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
alascanning
alaska
alasod2
alathr
alats12aurora
alaval
alaxalaalaxvalprox4valprox8pro
alb albumin|Albumin is a soluble, monomeric protein which comprises about one-half of the blood serum protein. Albumin functions primarily as a carrier protein for steroids, fatty acids, and thyroid hormones and plays a role in stabilizing extracellular fluid volume. Albumin is a globular unglycosylated serum protein of molecular weight 65,000. Albumin is synthesized in the liver as preproalbumin which has an N-terminal peptide that is removed before the nascent protein is released from the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in the Golgi vesicles to produce the secreted albumin. [provided by RefSeq, Jul 2008]
alb6
alba
albanian
albatype
albeit
albendazole
alberta
albescens
albicans
albicansinduced
albicansnative
albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
albinisms
albino
albipunctatus
albright
albrights
albumin
albuminadvanced
albuminbinding
albumincreatinine
albuminhba1c
albuminin
albumininduced
albuminuria The presence of albumin in the urine, an indicator of KIDNEY DISEASES.
albuterol A member of the class of phenylethanolamines that is 4-(2-amino-1-hydroxyethyl)-2-(hydroxymethyl)phenol having a tert-butyl group attached to the nirogen atom. It acts as a beta-adrenergic agonist used in the treatment of asthma and chronic obstructive pulmonary disease (COPD).
alc
alc1
alcadein
alcalpha1
alcam activated leukocyte cell adhesion molecule|This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011]
alcammediated
alcbeta
alcgamma
alcl
alcohol A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom.
alcoholassociated
alcoholdependent
alcoholic
alcoholics
alcoholinduced
alcoholism A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)|Disorders related to or resulting from abuse or mis-use of alcohol.
alcoholmetabolizing
alcoholrelated
alcoholreview
alcohols
alcoholspecific
ald
aldehyde A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group.
aldehydes
aldh
aldh1
aldh16a1 aldehyde dehydrogenase 16 family, member A1|This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
aldh1a1 aldehyde dehydrogenase 1 family, member A1|The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
aldh1a2 aldehyde dehydrogenase 1 family, member A2|This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]
aldh1a2crabp2
aldh1a3 aldehyde dehydrogenase 1 family, member A3|This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
aldh1b1 aldehyde dehydrogenase 1 family, member B1|This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]
aldh1l1 aldehyde dehydrogenase 1 family, member L1|The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
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]
aldh21
aldh212
aldh22
aldh2504lys
aldh2a
aldh2or
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]
aldh4
aldh7a1 aldehyde dehydrogenase 7 family, member A1|The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
aldhgoverned
aldhlow
aldhs
aldoa aldolase A, fructose-bisphosphate|The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011]
aldoarelated
aldoketo
aldoketoreductase
aldolase
aldose
aldosterone A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney.
aldosteronedependent
aldosteroneinduced
aldosteronemediated
aldosteroneproducing
aldosterones
aldosteronesecreting
aldosteronetorenin
aldosteronism
aldp
aldrich
aldrp
aleglitazar
alele
alelle
alemtuzumab
alendronate
alert
alerting
alertness
aleurone
aleut
alexander
alexandria
alexithymia An agnosia that is a deficiency in understanding, processing, or describing emotions.
alf
alf1
alfa
alfa2a
alfainduced
alfentanil A member of the class of piperidines that is piperidine having a 2-(4-ethyl-5-oxo-4,5-dihydro-1H-tetrazol-1-yl)ethyl group at the 1-position as well as N-phenylpropanamido- and methoxymethyl groups at the 4-position.
alfy
alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit|The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit|This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
alg2 ALG2, alpha-1,3/1,6-mannosyltransferase|This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
alg2binding
alg2interacting
alg2sec31a
algeria
algerian
alginate
algorithm
algorithms
alheimer
ali Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis.
alia
alien
alienmlk2
aligarh
align
alignant
aligned
aligning
alignment
alignments
aligns
aliii
alike
alimentary
aliphatic
aliskiren
alive
alix
alixbinding
alixs
alixtype
alk anaplastic lymphoma receptor tyrosine kinase|This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]
alk1
alk1alk5
alk1mediated
alk1smad1
alk2
alk2r206h
alk2smad1
alk2smad1smad4
alk3
alk3mediated
alk4
alk4mediated
alk5
alk5dependent
alk5smad
alk5smad23
alk7
alk7induced
alkali
alkaline
alkalinization
alkaloid Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids.
alkaloids
alkalosis Depletion of acid or accumulation base in the body fluids.
alkassociated
alkb Catalysis of the oxidative demethylation of N1-methyladenine and N3-methylcytosine in DNA and RNA, with concomitant decarboxylation of 2-oxoglutarate and releases oxidized methyl group on N1-methyladenine and N3-methylcytosine as formaldehyde.
alkbh2 alkB, alkylation repair homolog 2 (E. coli)|The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]
alkbh2catalyzed
alkbh3dependent
alkbh5 AlkB family member 5, RNA demethylase|
alkmediated
alknegative
alkpositive
alkrearranged
alkshcc
alktcl
alkyl
alkyladenine
alkylamides
alkylated
alkylating
alkylation
alkylosing
all When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.|A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.|A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the precursor B lymphoblastic leukemia and precursor T lymphoblastic leukemia.
all02
all1
all1af4
all1af9
all2004
all38
allacute
allalphahelical
allassociated
allatom
allbeta
allcause
allcone
allderived
alleged
allegedly
allel
allele
allele2
allelecontaining
alleledependent
alleledosage
alleleg
allelegenotype
allelegenotypewise
alleleic
alleles
allelesgenotypes
alleleshaplotypes
allelesin
allelespecific
allelesreview
allelic
allelicgenotypic
allelle
allelotype
allelotypes
allels
allergen
allergenchallenged
allergenderived
allergenicity
allergeninduced
allergenmediated
allergens
allergenspecific
allergic
allergies
allergy
allergyrelated
alleviate
alleviated
alleviates
alleviating
alleviation
alliance
allicin A sulfoxide that has formula C6H10OS2.
allitridi
alll1
allo
alloantibodies
alloantibody
alloantigen
alloantigens
alloantigenspecific
allocated
allocation
allodynia Pain due to a stimulus that does not normally provoke pain.
alloferon
alloforms
allogeneic
allogenic
allograft
allografted
allografts
allohsct
alloimmune
alloimmuneinduced
alloimmunization
alloisoleucinea2
allopregnanolone
allopurinol A bicyclic structure comprising a pyrazole ring fused to a hydroxy-substituted pyrimidine ring.
allopurinolrelated
alloreactive
alloreactivity
allorecognition
alloresponse
alloresponsive
allornone
allosct
allospecific
allospecificities
allospecificity
allostasis
allostatic
allostem
allosteric
allosterically
allosterism
allostery
allostimulated
allostimulation
allostimulatory
allotcell
allotransplantation
allotropic
allotype
allotypes
allotypic
allow
allowance
allowed
allowing
allows
alloxan A member of the class of pyrimidones, the structure of which is that of perhydropyrimidine substituted at C-2, -4, -5 and -6 by oxo groups.
allozyme
allpositive
alls
alltrans
alltransra
alltransretinal
alltransretinaldehyde
alltransretinoic
alltransretinol
allude
alludes
alluding
allying
alm
almokalant
almost
alms1 Alstrom syndrome protein 1|This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
aln
alo17
aloe
aloeemodin
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.
alone
along
alongside
aloop
alopecia A hypotrichosis that is characterized by a loss of hair from the head or body.
alox
alox12 arachidonate 12-lipoxygenase|
alox12b arachidonate 12-lipoxygenase, 12R type|This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Jul 2008]
alox15 arachidonate 15-lipoxygenase|
alox15b arachidonate 15-lipoxygenase, type B|This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
alox5 arachidonate 5-lipoxygenase|This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
alox5ap arachidonate 5-lipoxygenase-activating protein|This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
alox5apsg13s114aa
aloxe3 arachidonate lipoxygenase 3|This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
alp
alp1
alp4
alp6
alpahvbeta6
alpha A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids.
alpha0
alpha1
alpha10
alpha11
alpha112
alpha11beta1
alpha12
alpha1213
alpha122h5hisgln
alpha12fucose
alpha12fucosyltransferase
alpha12iv
alpha12mannosidase
alpha13
alpha134
alpha13dxylosyltransferases
alpha13fucosyltransferase
alpha13fuctvii
alpha13p115rhogef
alpha16
alpha16fucosylation
alpha1a
alpha1a247rexpressing
alpha1a52s
alpha1aadrenoceptor
alpha1aadrenoceptors
alpha1aar
alpha1aars
alpha1acid
alpha1adrenergic
alpha1adrenoceptor Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of alpha1-adrenergic receptors; the activity involves transmitting the signal to the Gq alpha subunit of a heterotrimeric G protein.
alpha1adrenoceptors
alpha1alpha2
alpha1antichymotrypsin
alpha1antitripsin
alpha1antitrypsin
alpha1antitrypsindeficient
alpha1ar
alpha1arg120
alpha1ars
alpha1at
alpha1b
alpha1badrenergic
alpha1badrenoceptor
alpha1bar
alpha1beta1
alpha1beta1integrin
alpha1beta2
alpha1beta2gamma2
alpha1beta2gamma2l
alpha1beta3
alpha1beta3gamma2
alpha1betaxdelta
alpha1bglycoprotein
alpha1c
alpha1d
alpha1dadrenergic
alpha1dadrenoceptor
alpha1dar
alpha1derived
alpha1g
alpha1globin
alpha1h
alpha1helix
alpha1i
alpha1i2alpha2i
alpha1i3
alpha1iii
alpha1integrins
alpha1iv
alpha1iv382393
alpha1iv531543
alpha1microglobulin
alpha1nakatpase
alpha1pi
alpha1protease
alpha1proteinase
alpha1subunit
alpha1syntrophin
alpha1v2alpha2v
alpha1v3
alpha1vi
alpha1vii
alpha2
alpha2088
alpha23sialidase
alpha23sialyltransferase
alpha25dihydroxyvitamin
alpha25oh2d3induced
alpha26
alpha26linked
alpha26sialylated
alpha26sialylation
alpha26sialyltransferase
alpha28linked
alpha2a
alpha2aadrenergic
alpha2aadrenoreceptor
alpha2aar
alpha2abeta2adrenergic
alpha2adrenergic
alpha2adrenoceptors
alpha2alpha2
alpha2alpha3
alpha2antiplasmin
alpha2antiplasminplasmin
alpha2ap
alpha2ar
alpha2ars
alpha2b
alpha2badrenergic
alpha2bar
alpha2bbeta3
alpha2beta1
alpha2beta1alpha3beta1
alpha2beta1collagen
alpha2beta1gamma2l
alpha2beta1integrin
alpha2beta1mediated
alpha2beta1specific
alpha2beta2
alpha2c
alpha2cadrenoceptor
alpha2cadrenoceptors
alpha2cadrenoreceptor
alpha2car
alpha2cars
alpha2delta
alpha2delta1
alpha2globin
alpha2glycoprotein
alpha2glycoprotein1
alpha2i
alpha2integrin
alpha2iv
alpha2m
alpha2macroglobulin
alpha2mg
alpha2microglobulin
alpha2ml1
alpha2noradrenergic
alpha2plasmin
alpha2v
alpha2vi
alpha3
alpha32b13metlys
alpha36
alpha37
alpha3alpha5beta4
alpha3alpha6
alpha3alpha6beta1
alpha3beta1
alpha3beta1alpha6beta1
alpha3beta1dependent
alpha3beta1mediated
alpha3beta1shp1campprotein
alpha3beta1stimulated
alpha3beta2
alpha3beta2nachrs
alpha3beta3gamma
alpha3beta4
alpha3iv
alpha3nc1
alpha3qip1
alpha3ss3gamma2lm332
alpha4
alpha4alpha4
alpha4beta1
alpha4beta1cd81
alpha4beta1dependent
alpha4beta1mediated
alpha4beta2
alpha4beta22alpha4
alpha4beta2alpha5
alpha4beta2nachr
alpha4beta3gamma2l
alpha4beta4
alpha4beta7
alpha4beta7igg
alpha4beta7mediated
alpha4c589c594
alpha4cytoplasmic
alpha4integrin
alpha4iv
alpha4mediated
alpha4nachr
alpha4pp2ac
alpha5
alpha5alpha1
alpha5beta1
alpha5beta1dependent
alpha5beta1fc
alpha5beta1gamma1
alpha5beta1integrin
alpha5beta1integrincmetfaksrcdependent
alpha5beta1integrindependent
alpha5beta1integrinmediated
alpha5beta1mediated
alpha5beta2
alpha5beta2gamma2l
alpha5beta3
alpha5integrin
alpha5iv
alpha5ivalpha6iv
alpha5laminins
alpha6
alpha6abeta4
alpha6bbeta4
alpha6beta1
alpha6beta1integrin
alpha6beta1integrinmediated
alpha6beta2beta3
alpha6beta4
alpha6beta4dependent
alpha6bricd71dim
alpha6integrin
alpha6iv
alpha6nachr
alpha7
alpha7beta0
alpha7beta1
alpha7beta1d
alpha7hsmscob
alpha7integrin
alpha7nachr
alpha7nachrmediated
alpha7nachrs
alpha7nicotinic
alpha7x2beta1
alpha8
alpha807tt
alpha8beta1
alpha9
alpha9alpha10
alpha9beta1
alpha9beta1binding
alpha9dependent
alpha9helix
alpha9integrin
alpha9nachr
alpha9nachrmediated
alphaa
alphaaacetyl
alphaaalphabcrystallins
alphaacc1
alphaacontaining
alphaacrystallin
alphaactin
alphaactin4
alphaactinin
alphaactinin1
alphaactinin14regulated
alphaactinin1dependent
alphaactinin2
alphaactinin3
alphaactinin4
alphaactinindependent
alphaactinins
alphaactn4
alphaadaptin
alphaadducin
alphaadrenergic
alphaahrarnt
alphaalpha
alphaalphaalphaanti
alphaamino
alphaamino3hydroxy5methyl4isoxazolepropionic
alphaamylase
alphaamylases
alphaantagonistic
alphaantiplasmin
alphaapps
alphaarrestin
alphaassociated
alphab
alphabc
alphabcrystallin
alphabcrystallins
alphabeta
alphabeta1
alphabeta90
alphabetadependent
alphabetaenalsenones
alphabetagamma
alphabetaglobin
alphabetaheterodimers
alphabetainterface
alphabetamediated
alphabetarecognized
alphabetasubunit
alphabetat
alphabetaunsaturated
alphablockers
alphaborano
alphabromo
alphabungarotoxin
alphac
alphacamkii
alphacat
alphacatenin
alphacateninp120
alphacatenins
alphacateninvinculinfactin
alphacatulin
alphacdomain
alphacell
alphacells
alphachain
alphachains
alphachelix
alphachimaerin
alphacleaved
alphaconotoxin
alphaconotoxins
alphaconverting
alphacop
alphacouptfi
alphacp1
alphacp2
alphacrystallin
alphacrystallins
alphacys45phe
alphad
alphadefensin
alphadefensin1
alphadefensin1alphadefensin3
alphadefensins
alphadefensins13
alphadelta
alphadependent
alphadg
alphadgk
alphadihydrotestosterone
alphadystrobrevin
alphadystrobrevin1
alphadystroglycan
alphadystroglycanopathy
alphaebeta7
alphaebeta7ecadherin
alphaecatenin
alphaeffects
alphaegfr
alphaehelix
alphaenac
alphaenolase
alphaepidermal
alphaeralpha
alphaexon
alphafetoprotein
alphafetoproteinproducing
alphafhelix
alphafodrin
alphafoetoprotein
alphafp
alphafucosidase
alphagal
alphagalactosidase
alphagalactosylceramide
alphagamma
alphaglcnaccapped
alphaglobin
alphaglucosidase
alphaglucosidases
alphagmr
alphagranular
alphagranule
alphagranules
alphagst
alphagustducin
alphah
alphahb
alphahelical
alphahelices
alphahelicity
alphahelix
alphahelixcontaining
alphahemoglobin
alphahemoglobinstabilizing
alphahemolysin
alphaherpesviruses
alphahsd
alphahuman
alphahydroxylase
alphahydroxylation
alphai
alphai1
alphai2
alphaifn
alphaihelix
alphaii
alphaiib
alphaiibbeta3
alphaiibbeta3fcgammariia
alphaiibbeta3fibrinogen
alphaiibbeta3kindlins
alphaiibbeta3mediated
alphaiibbeta3s
alphaiibbeta3serotonin
alphaiibeta1
alphaiibeta3
alphaiibmediated
alphaiibsubunit
alphaiiph
alphaiisp
alphaiispectrin
alphainduced
alphainducible
alphainhibin
alphaintegrin
alphaintercalated
alphainternexin
alphaiodoestradiol
alphaisoform
alphajnknikikk
alphakap
alphaketo
alphaketoacid
alphaketoglutarate
alphaketoglutaratedependent
alphakg
alphakgdependent
alphaki
alphakinase
alphaklotho
alphal
alphala
alphalactalbumin
alphalbeta2
alphalbeta2dependent
alphalfucosidase
alphalinolenic
alphalipoic
alphaliposomes
alphaliver
alphaloop
alphalpailike
alpham
alphamacpfgamma
alphamangostin
alphamannosidase
alphambeta2
alphambeta2gpibalpha
alphambeta2mediated
alphamediated
alphamelanocyte
alphamelanocytestimulating
alphamethylacyl
alphamethylacylcoa
alphamethylacylcoenzyme
alphamethylene
alphamhc
alphamidomain
alphamigrating
alphamintegrin
alphamintegrinicam1
alphamir21tropomyosin
alphamsh
alphamshcamp
alphamshinduced
alphamshmediated
alphamyosin
alphanac
alphanacetylgalactosaminidase
alphanaphthoflavone
alphanegative
alphaneurexin
alphanfkappab
alphanmethyltransferase
alphanu
alphanubeta3
alphanubeta5
alphanuclear
alphapapillomavirus
alphaparticleinduced
alphaparvin
alphapdgfr
alphapix
alphapixmediated
alphaplateletderived
alphapositive
alphaprimase
alphaprocessing
alphaprogesterone
alphapropeller
alphaprotein
alphaq
alphaq11
alphaq11coupled
alphaq11pecam1
alphaqca2calmodulin
alphaqmediated
alphareceptor
alphareductase
alpharegulated
alpharelated
alpharesponsive
alpharetinoid
alphargs
alpharii
alphas
alphasarcoglycan
alphasatellite
alphasecretase
alphasecretasederived
alphasecretaselike
alphasecretases
alphasecretion
alphasecretory
alphasg
alphaskeletal
alphasma
alphasmapositive
alphasmediated
alphasmooth
alphasn
alphasnap
alphaspecific
alphaspectrin
alphastimulated
alphasubunit
alphasubunits
alphasyn
alphasynemin
alphasyngcase
alphasyninduced
alphasyntrophin
alphasynuclein
alphasynucleinalphasynuclein
alphasynucleinbinding
alphasynucleincontaining
alphasynucleindopamine
alphasynucleininduced
alphasynucleinmediated
alphasynucleinopathies
alphasynucleinopathy
alphasynucleinpositive
alphasynucleins
alphasynucleinsynphilin1
alphat
alphat663henac
alphatectorin
alphatectorininteracting
alphathal
alphathal1
alphathalassaemia
alphathalassemia
alphathalassemiamr
alphathalassemic
alphathrombin
alphatm
alphatocopherol
alphatocopheryl
alphatomatine
alphatoxin
alphatropomyosin
alphatsinduced
alphatubulin
alphav
alphav4beta3
alphavbeta
alphavbeta1
alphavbeta3
alphavbeta3alphavbeta5
alphavbeta3cd47
alphavbeta3dependent
alphavbeta3erk1erk2
alphavbeta3fakmtor
alphavbeta3focal
alphavbeta3igfigf1r
alphavbeta3integrin
alphavbeta3mediated
alphavbeta3overexpressing
alphavbeta3srcpi3kaktdependent
alphavbeta3tat
alphavbeta3vitronectinprovoked
alphavbeta5
alphavbeta5aktnfkappab
alphavbeta5beta6
alphavbeta5phosphoinositide3kinasedependent
alphavbeta6
alphavbeta6dependent
alphavbeta8
alphavbeta8integrins
alphavbeta8mediated
alphavegf
alphavintegrin
alphavirus
alphavmediated
alphavwf
alphaxbeta2
alphazearalanol
alphoid
alpi alkaline phosphatase, intestinal|There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]
alpine
alpinists
alpk2 alpha-kinase 2|
alpl alkaline phosphatase, liver/bone/kidney|There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
alport
alports
alpp alkaline phosphatase, placental|The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. The protein is primarily expressed in placental and endometrial tissue; however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Jan 2015]
alps
alpujarra
alr
alr1
alr2
already
alreadyreported
als A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
als2 amyotrophic lateral sclerosis 2 (juvenile)|The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
als2cl ALS2 C-terminal like|
als2cr7
als2uxt
als3
als4
alsassociated
alscausing
alsfrontotemporal
alsin
alslike
alslinked
alsspecific
alstrom
alt
alt1
alt2
altassociated
alter
alterated
alteration
alterations
alterative
altered
alteredhost
alterednormal
altering
alternans
alternaria
alternariaexposed
alternata
alternate
alternately
alternating
alternation
alternations
alternative
alternativecomplementary
alternatively
alternativelyspliced
alternatives
alternativve
alters
although
altitide
altitude
altitudeassociated
altitudedependent
altitudes
altnf2d9
altogether
altpositive
alts
altto
alu
alualu
alui
alul
alum
alumediated
alumina
aluminium
aluminum
alurepeat
alurepetitive
alusequences
aluy
aluya5
aluyb8
aluyb8mutyh
alveolar
alveolarcapillary
alveolarderived
alveolarization The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways.
alveoli
alveoliticgranuloma
alveolitis
alveolus A tiny, thin-walled, capillary-rich sac in the lungs where the exchange of oxygen and carbon dioxide takes place.
always
alx
alx1 ALX homeobox 1|The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
alx3
alx4 ALX homeobox 4|This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]
alxfpr2
alxfpr2dependent
aly
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]
alz50
alzeheimers
alzeimers
alzheimer
alzheimerassociated
alzheimerdisease A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
alzheimerlike
alzheimers A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
alzheimertype
alzheimiers
alzhemier
am1
am251
am80
am80induced
am9
amaco
amacr alpha-methylacyl-CoA racemase|This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
amacrine
amam2
amambp1
amangostin
amap1
amap1cortactin
amastigotes
amateur
amaurosis
amazingly
amazon
amazonas
amberw
ambient
ambiguity
ambiguous
ambivalent
amblyopia
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]
ambp1
ambra1 autophagy/beclin-1 regulator 1|
ambroise
ambulatory
amcak
amcase
amci
amd
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]
amd3100
amdassociated
amdrelated
amdrisk
amebiasis A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
amebic
amediated
amegakaryocytic
amel
amelanotic
ameliorate
ameliorated
ameliorates
ameliorating
amelioration
ameloblast A cylindrical epithelial cell in the innermost layer of the enamel organ which takes part in the elaboration of the enamel prism. The ameloblasts cover the dental papilla.
ameloblastic
ameloblastin
ameloblastoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
ameloblastomas
ameloblasts
amelogenesis The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage.
amelogenin
amelx
amelxy
amenability
amenable
amend
amenorrhea
amenorrheic
amenorrhoea
amer
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]
amer2eb1apc
america
american
americancaucasian
americans
americanus
americas
amerindian
amerindians
ames
amevoked
amf
amfamfr
amfher2
amfnlkmf
amfr autocrine motility factor receptor, E3 ubiquitin protein ligase|This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]
amh anti-Mullerian hormone|Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual differentiation. Anti-Mullerian hormone causes the regression of Mullerian ducts which would otherwise differentiate into the uterus and fallopian tubes. Some mutations in the anti-Mullerian hormone result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2008]
amhr
amhr2 anti-Mullerian hormone receptor, type II|This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]
amhrii
ami
amiacute
amid
amidase
amidation
amide An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group.
amides
amidolytic
amidoxime
amidoximes
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.
amiloridesensitive
amine A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.
amineassociated
aminemodified
amines
amino
aminoacid
aminoacidic
aminoacids
aminoaciduria An increased concentration of an amino acid in the urine.
aminoacyl
aminoacylated
aminoacylation
aminoacyltrna
aminobutyric
aminochrome
aminoflavone
aminoglycoside
aminoglycosides
aminonogo
aminonucleoside
aminopeptidase
aminopeptidase1
aminopeptidases
aminophospholipid
aminophospholipids
aminoproteolytic
aminoterminal
aminoterminally
aminotermini
aminoterminus
aminotransferase
aminotransferase1
aminotransferases
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.
amirelated
amish
amishmennonites
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.
amitriptylineinduced
amkl
aml Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.
aml1
aml1a
aml1b
aml1eto
aml1eto9a
aml1etoassociated
aml1etocontaining
aml1etodnmtshdacs
aml1etoexpressing
aml1etoinduced
aml1etopositive
aml1etos
aml1evi1
aml1fog2
aml1mediated
aml1mtg8
aml1positive
aml1runx1
aml2
amlassociated
amldc
amlderived
amlm0
amlm2
amlm4
amlm5
amlmds
amlodipine A fully substituted dialkyl 1,4-dihydropyridine-3,5-dicarboxylate derivative, which is used for the treatment of hypertension, chronic stable angina and confirmed or suspected vasospastic angina.
amls
amm
ammation
ammatory
ammonia
ammonium
ammoniuminduced
ammons
amn amnion associated transmembrane protein|The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]
amn107
amnesic
amnestic
amniocentesis
amniochorion Pertaining to the amnion and chorion.
amniocytes
amnion A thin, tough, membranous sac that encloses the embryo or fetus of a mammal, bird, or reptile. It is filled with a serous fluid in which the embryo is suspended.
amnionderived
amnionless
amnions
amnioquick
amniotic
amoebae
amoebic
amoeboid
amog
among
amongst
amont
amorphous
amot angiomotin|This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
amot130
amotl1 angiomotin like 1|The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
amotl2 angiomotin like 2|Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
amotp130
amotpatjmupp1syx
amoung
amount
amounting
amounts
amoxicillin A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group.
amoxycillin
amp
ampa
ampa3
ampactivated
ampainduced
ampamediated
ampar
ampars
ampatp
ampatype
ampd
ampd1 adenosine monophosphate deaminase 1|Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
ampdependent
amph1
amphetamine An amphetamine, the parent of the class of amphetamines, having the structure 1-phenylpropan-2-amine. It exists as a racemate.
amphetamineinduced
amphetamineregulated
amphioxus
amphipathic
amphiphilic
amphiphilicity
amphiphysin
amphiregulin
amphiregulinspecific
amphitelic
amphitropic
amphotericin
amphoterin
ampindependent
ampinduced
ampk
ampkactivating
ampkalpha
ampkalpha1
ampkalpha2
ampkalphamediated
ampkbeta1
ampkbeta2
ampkcox2
ampkdependent
ampkfoxo3amediated
ampkgamma3
ampkgbf1arf1
ampkgde
ampkgsk3beta
ampkinase
ampkindependent
ampklitaftnfsf15
ampkmediated
ampkmtor
ampkmtormcl1
ampkp53
ampkpaktcox2
ampkrelated
ampksirt1
ampkstimulated
ampktriggered
ample
amplication
amplicon
amplicondriven
amplicons
amplification
amplificationactivation
amplificationdeletion
amplificationoverexpression
amplifications
amplified
amplifier
amplifies
amplify
amplifying
amplitude
amplitudes
amplkb1
ampmediated
amppka
amppkacreb
amppnp
ampprotein
ampregulated
ampresponsive
amps
ampsensitive
ampstimulated
ampulla The constant contraction of ampulla (to extend and retract the tube feet) helps to move a starfish. The ampullae are teeth like structures surrounding the radial canal.
ampullary
amputation
ampylation
amr
amrs2
ams
amsacrine
amsh
amshlp
amsterdam
amsterdamcriteria
amt aminomethyltransferase|This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
amurense
amy
amy1
amy1binding
amygdala The one of the four basal ganglia in each cerebral hemisphere that is part of the limbic system and consists of an almond-shaped mass of gray matter in the anterior extremity of the temporal lobe.
amygdaladependent
amygdalahippocampus
amygdalar
amygdaloid
amylacea
amylase
amylin
amylinevoked
amylins
amyloid
amyloida
amyloidassociated
amyloidb
amyloidbeta
amyloidbeta140
amyloidbeta142
amyloidbeta40
amyloidbeta42
amyloidbetadependent
amyloidbetainduced
amyloidbetamediated
amyloidbetapeptide
amyloidforming
amyloidgenesis
amyloidinduced
amyloidlike
amyloidogenesis
amyloidogenic
amyloidogenicburden
amyloidogenicity
amyloidogenicprone
amyloidoses
amyloidosis An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.
amyloidotic
amyloidrelated
amyloids
amyloig
amylotrophic
amyopathic
amyotrophic
amyotrophy
amyotropic
amytrophic
an11
ana
anabolic
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.
anacardic
anacetrapib
anad
anadysplasia
anaemia
anaemic
anaerobes
anaerobic
anaesthesia
anagen The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair.
anagrelide A 1,5-dihydroimidazo[2,1-]quinazoline having an oxo substituent at the 2-position and chloro substituents at the 6- and 7-positions.
anakinra
anal
analgesia
analgesic
analgesics
analog
analogous
analogs
analogue
analogues
analogy
analyis
analys
analys9s
analyse
analysed
analyses
analysing
analysisof
analyte
analytes
analytic
analytical
analyze
analyzed
analyzedin
analyzes
analyzing
anamorsin
anandamide A fatty amide obtained by the formal condensation of arachidonic acid with ethanolamine.
anandamideinduced
anandamidestimulated
ananlsis
anapc1dependent
anaphase The cell cycle phase, following metaphase, during which the chromosomes separate and migrate towards the poles of the spindle.
anaphaseinhibitory
anaphasepromoting
anaphylactic
anaphylatoxin
anaphylaxis
anaplasia
anaplasma
anaplasstic
anaplastic
anaplerosis
anastomosis
anastrozole A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position.
anatolia
anatolian
anatomic
anatomical
anatomically
anatomoclinical
anatomy
anaylsis
anc
anca
ancaassociated
ancainduced
ancca
ancestor
ancestors
ancestral
ancestralspecific
ancestries
ancestry
ancestryinformative
anchor
anchorage
anchoragedependent
anchorageindependence
anchorageindependent
anchored
anchoring Interacting selectively and non-covalently with both a protein or protein complex and a membrane, in order to maintain the localization of the protein at a specific location on the membrane.
anchors
anchr
ancient
ancillary
anco
anco1
ancr
and1
and7
anda
andattenuated
andean
andermanns
anderogen
andersen
andersentawil
anderson
andes
andeven
andf
andhra
andmxi2
andor
andpdgfra
androge
androgen
androgenandrogen
androgenar
androgendependence
androgendependent
androgendepleted
androgendepletionindependent
androgendeprivation
androgenestrogen
androgenetic
androgenic
androgenindependence
androgenindependent
androgeninduced
androgeninduction
androgeninsensitive
androgenmediated
androgenmetaboliizing
androgenmodulated
androgennonresponsive
androgenprocessing
androgenreceptor
androgenreceptordependent
androgenreceptordriven
androgenreceptormediated
androgenregulated
androgenrelated
androgenresponse
androgenresponsive
androgenresponsiveness
androgens
androgenselective
androgensensitive
androgensensitivity
androgenstat3
androgenstimulated
androgentarget
androgentreated
andrographitis
andrographolide A labdane diterpenoid isolated from the leaves and roots of Andrographis paniculata that exhibits anti-HIV, anti-inflammatory and antineoplastic properties.
andrographolidemediated
android
androstane
androstanediol
androstenedione The chemical reactions and pathways resulting in the formation of androst-4-ene-3,17-dione.
androstenone
androsterone An androstanoid that is 5alpha-androstane having a hydroxy substituent at the 3alpha-position and an oxo group at the 17-position. It is a metabolite of dehydroepiandrosterone .
andrunx1
ands
andthe
ane
aneassociated
anembryonic
anemia A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.
anemiabrca
anemiafagene
anemias
anemic
anemone
anemonin A butenolide that has formula C10H8O4.
anencephaly
anergic
anergy
anesthesia
anesthetic
anestheticbinding
anesthetics
anesthetised
aneuploid
aneuploidies
aneuploidization
aneuploidy chromosome count is not an exact multiple of the haploid number
aneuploidyassociated
aneuploidytolerating
aneurysm Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
aneurysmal
aneurysmdissection
aneurysms
aneusomy
anf
anfh
anfinsen
ang angiogenin, ribonuclease, RNase A family, 5|The protein encoded by this gene is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic ribonuclease. In addition, the mature peptide has antimicrobial activity against some bacteria and fungi, including S. pneumoniae and C. albicans. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes ribonuclease, RNase A family, 4 share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2014]
ang1
ang112
ang17
ang1ang2
ang1ang2tie2
ang1induced
ang1tie2
ang1tie2mediated
ang2
ang21
ang2ang1
ang2angiopoietin
ang2tie2
ang2tie2pathway
ang4
angaite
angami
angbinding
angeles
angelman
anger
angerrelated
angiectatic
angii
angiiat1
angiierk
angiiinduced
angiimediated
angiingfibnurr1
angina
angio
angioarchitecture
angioassociated
angiocidin
angiodema
angiodysplasias
angioedema condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis
angiofibroma
angiofibromas Angiofibroma consist of many often dilated vessels.
angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
angiogenesisangiostasis
angiogenesisassociated
angiogenesisdependent
angiogenesisfgf2fibroblast
angiogenesisgrowth
angiogenesispromoting
angiogenesisrelated
angiogenetic
angiogenic
angiogenically
angiogenin
angiogenin1
angiogensis
angiographic
angiographical
angiographically
angiography
angiographycally
angioid
angioimmunoblastic
angioinhibitory
angiolymphatic
angioma
angiomas
angiomatoid
angiomirs
angiomotin
angiomotinlike
angiomotinrelated
angiomyogenesis
angiomyolipoma A cell type benign neoplasm that from perivascular epithelioid cells.
angiomyolipomas
angiopaathy
angiopathies
angiopathy
angiopathyrelated
angioplasties
angioplasty
angiopoietin
angiopoietin1
angiopoietin1induced
angiopoietin2
angiopoietinlike
angiopoietinlike4
angiopoietins
angiopoietintie2
angiosarcoma A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.
angiosarcomas
angiostasis
angiostatic
angiostatically
angiostatin
angiostatinlike
angiostatins
angiostrongyliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
angiostrongylus
angioteinsin
angiotensin
angiotensin1
angiotensin17
angiotensinconverting
angiotensinconvertingenzyme
angiotensindependent
angiotensinforming
angiotensinii
angiotensinogen
angiotensinogen6
angiotensinogenrenin
angiotensinreceptor
angiotensins
angiotension
angiotensiongen
angiotropic
angle
angleclosure
angles
angloceltic
angola
angolan
angpt1 angiopoietin 1|Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]
angpt12
angpt1angpt2
angpt2 angiopoietin 2|The protein encoded by this gene is an antagonist of angiopoietin 1 (ANGPT1) and endothelial TEK tyrosine kinase (TIE-2, TEK). The encoded protein disrupts the vascular remodeling ability of ANGPT1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
angptl
angptl1 angiopoietin-like 1|Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]
angptl2 angiopoietin-like 2|Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008]
angptl3 angiopoietin-like 3|This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metablism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Feb 2013]
angptl3induced
angptl4 angiopoietin-like 4|This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]
angptl5 angiopoietin-like 5|
angregulated
angrem104
angry
angstrom
angstroms
angtie
angtie2
angular
anhedonia Inability to experience pleasure activities usually found enjoyable.
anhidrosis OMIM mapping confirmed by DO. [SN].
anhidrotic
anhui
anhydrase
anhydraselike
anhydraserelated
anhydrotic
ani
anilinoquinazoline
anillin
anillinect2
anillinracgap50c
animal Any of a kingdom (Animalia) of living things including many-celled organisms and often many of the single-celled ones (as protozoans) that typically differ from plants in having cells without cellulose walls, in lacking chlorophyll and the capacity for photosynthesis, in requiring more complex food materials (as proteins), in being organized to a greater degree of complexity, and in having the capacity for spontaneous movement and rapid motor responses to stimulation.
animalis
animals
animo
anintrinsic
anion
anionbinding Interacting selectively and non-covalently with anions, charged atoms or groups of atoms with a net negative charge.
aniondicarboxylate
anionexchange
anionhydrogen
anionic
anions
anionselective
aniridia OMIM mapping confirmed by DO. [SN].
anisomycin
anisotropic
anisotropy
ank
ank1 ankyrin 1, erythrocytic|Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]
ank1e
ank2 ankyrin 2, neuronal|This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]
ank3 ankyrin 3, node of Ranvier (ankyrin G)|Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
anka
ankh ANKH inorganic pyrophosphate transport regulator|This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
ankhd1 ankyrin repeat and KH domain containing 1|This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]
ankk
ankk1
ankk1drd2
ankk1taqia
ankle
anklebrachial
ankolysing
ankra
ankrd
ankrd1 ankyrin repeat domain 1 (cardiac muscle)|The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
ankrd11 ankyrin repeat domain 11|This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]
ankrd13a ankyrin repeat domain 13A|
ankrd17 ankyrin repeat domain 17|This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
ankrd1carp
ankrd2 ankyrin repeat domain 2 (stretch responsive muscle)|This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
ankrd28 ankyrin repeat domain 28|
ankrd55 ankyrin repeat domain 55|
ankrd7 ankyrin repeat domain 7|
anks
anks3sam
anks3samanks6sam
anks6 ankyrin repeat and sterile alpha motif domain containing 6|
anks6sam
anksh3
ankyloblepharon Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
ankyloglossia Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.
ankylosing
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.
ankyrin
ankyrin1
ankyrinb
ankyrinbdependent
ankyrinbg
ankyrinbinding Interacting selectively and non-covalently with ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins.
ankyring
ankyrininsp3
ankyrinlike
ankyrinmembrane
ankyrinr
ankyrinrepeat
ankyrinrepeatcontaining
anlage
anlagen
anlalysis
anlaysis
anll Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.
anln anillin, actin binding protein|This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
anlysis
annealing
annexes
annexin
annexin1
annexin2
annexin3
annexina1
annexinii
annexins
annexinv
annihilation
annonacin
annotated
annotation
annotations
annual
annular
annulus The extracellular matrix that is a regularly spaced circumferential ridge present in the cortical region of the cuticle. Annuli are delineated by annular furrows and are present throughout the cuticle with the exception of lateral regions where longitudinal alae are present.
ano1 anoctamin 1, calcium activated chloride channel|
ano10 anoctamin 10|The transmembrane protein encoded by this gene is a member of a family of calcium-activated chloride channels. Defects in this gene may be a cause of autosomal recessive spinocerebellar ataxia-10. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
anoctamin
anodal
anogenital
anoikis Apoptosis triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix.
anoikisinducing
anoikislike
anoikisresistant
anomalies
anomalous
anomaly
anonsecretors
anonymous
anopheles
anophthalmia Absence of the globe or eyeball.
anophthalmiamicrophthalmia
anorchia
anorectal
anorectic
anorectum
anorexia A lack or loss of appetite for food (as a medical condition).
anorexiacachexia
anorexic
anorexigenic
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.
anosmin1
another
anothers
anova
anovel
anovulation
anovulatory
anoxia absence or almost complete absence of oxygen from inspired gases, in blood or tissues
anoxiainduced
anoxiareoxygenation
anoxic
anp
anp32a acidic (leucine-rich) nuclear phosphoprotein 32 family, member A|
anp32b acidic (leucine-rich) nuclear phosphoprotein 32 family, member B|
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]
anpgca
anplastic
anpmediated
anpnpra
anril
anrilmediated
ans
anscriptional
anserine A dipeptide comprising of beta-alanine and 3-methyl-L-histidine units.
answer
ant
ant1
ant2
ant3
antagomir
antagonises
antagonising
antagonism
antagonist
antagonistbound
antagonistic
antagonistically
antagonistil1ra
antagonistmediated
antagonists
antagonize
antagonized
antagonizes
antagonizing
antecedent
antedates
antemortem
antenatal
anteneonatal
antenna One of a pair of slender movable segmented sensory organs on the head of insects, myriapods, and crustaceans.
antepartum
anterior
anterograde
anteroposterior
anth
anthelmintics
anthocyanins Any flavonoid that is a glycoside derivative of anthocyanidin. They are water-souluble plant pigments that generally occur as acidic salts exhibiting bright colours.
anthracis
anthracycline
anthracyclinebased
anthracyclinecontaining
anthracyclineinduced
anthracyclinemitomycincontaining
anthracyclinerelated
anthracyclines
anthracyclinetaxanebased
anthrax
anthropological
anthropology
anthropometric
anthropometrics
anthropometry Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body.
anti
anti41bb
antia1
antiachr
antiadenoviral
antiadhesion
antiadhesive
antiadipogenic
antiageing
antiaggregation
antiaggression
antiaggressive
antiaging
antiallergic
antialpha2
antialpha5beta1
antialphaiibbeta3
antialphav
antiamyloidogenic
antianabolic
antiandrogen
antiandrogenic
antiandrogens
antiangiogenesis
antiangiogenic
antiangiogenicantitumor
antiannexin
antiapoa1
antiapoptosis Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
antiapoptotic
antiapoptoticcytoprotective
antiapoptotics
antiapoptotitc
antiapototic
antiaqp4
antiaquaporin
antiarrhythmic
antiatherogenesis
antiatherogenic
antiatherosclerotic
antiautophagic
antibacteria
antibacterial
antibax
antibcl2
antibeta1
antibeta2
antibeta2gp1
antibeta2gpi
antibeta2gpibeta2gpi
antibeta2gpibeta2gpiinduced
antibiotic
antibioticinduced
antibioticresistant
antibiotics
antibodies An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins.
antibodiesacpa
antibodiesnegative
antibodiespositive
antibody An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins.
antibodyantigen
antibodyassociated
antibodyavidin
antibodybased
antibodybinding
antibodyblockade
antibodybound
antibodycoated
antibodydependent
antibodydrug
antibodyfusion
antibodyindependent
antibodyinduced
antibodymediated
antibodynegative
antibodypositive
antibodyreactive
antibodysecreting
antibone
antibpde
antibreast
antic
antic1q
antica125
antica153
anticalcific
anticancer
anticancerdrug
anticancerstem
anticandidal
anticaner
anticarcinogenic
anticardiolipin
anticatabolic
anticcp
anticcpnegative
anticcppositive
anticd115
anticd11d
anticd14
anticd20
anticd25
anticd28
anticd3
anticd3cd28
anticd4
anticd40
anticd44
anticd45
anticd45ro
anticd79b
anticenpaspecific
anticenpb
anticentromere
antichlamydial
anticholinergic
antichronic
antichymotrypsin
anticipate
anticipated
anticipates
anticipating
anticipation
anticitrullinated
anticitrulline
anticlonogenic
anticoagulant An agent that prevents blood clotting.
anticoagulants
anticoagulated
anticoagulation
anticoagulationrelated
anticodon
anticomplement
anticontactinassociated
anticonvulsant A drug used to prevent seizures or reduce their severity.
anticonvulsants
anticoronaviral
anticorrelated
anticryptococcal
antictla4
anticxcr4
anticyclic
anticyp2d6
anticytochrome
anticytomegalovirus
anticytotoxicity
antidepressant
antidepressantinduced
antidepressants
antidepressive
antidiabetes
antidiabetic
antidiabetics
antidiarrheal
antidiuresis Any process that decreases the amount of urine excreted from the body over a unit of time.
antidiuretic
antidna
antidonor
antidote
antidouble
antidp
antidr5
antidromic
antidsdna
antidsg3
antidyslipidemic
antiegf
antiegfr
antiegfrmab
antielastase
antiemetic
antiemtbased
antiena
antiendothelial
antiepidermal
antiepileptic
antiestrogen
antiestrogenic
antiestrogenresistance
antiestrogenresistant
antiestrogens
antifactor
antifas
antifasinduced
antifc
antifibrinolysis
antifibrinolytic
antifibrogenic
antifibrosis
antifibrotic
antifolate An antimetabolite that impairs the action of folic acids
antifolates
antifungal
antigad65
antigalectin
antigalectin9
antiganglioside
antigastric
antigbm
antigen Any substance that stimulates an immune response in the body, such as through antibody production or by presentation to a T-cell receptor after binding to a major histocompability complex (MHC).
antigen1
antigen125
antigen199
antigen2
antigen3
antigen4
antigen4dependent
antigena0201
antigena11
antigenactivated
antigenbinding Interacting selectively and non-covalently with an antigen, any substance which is capable of inducing a specific immune response and of reacting with the products of that response, the specific antibody or specifically sensitized T-lymphocytes, or both. Binding may counteract the biological activity of the antigen.
antigenbw4i80
antigencoupled
antigendependent
antigendr
antigendriven
antigene
antigenexperienced
antigeng
antigenhuman
antigenic
antigenicity
antigenindependent
antigeninduced
antigeninteracting
antigenmediated
antigennonspecific
antigenome
antigenomic
antigenoverexpressing
antigenpcnain
antigenpositive
antigenpositve
antigenpresenting
antigenprocessing The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex.
antigenpulsed
antigenrecognition
antigenrelated
antigenresponsive
antigenrestricted
antigens
antigenspecific
antigenstimulated
antiglioma
antiglomerular
antiglycoprotein
antigp130
antigp210
antigrowth
antigsssen
antihbs
antihbv
antihcv
antihead
antihelicobacter
antihepatitis
antiher2
antihexon
antihistamines
antihistaminic
antihiv
antihiv1
antihla
antihmgbhmgb2
antihna3a
antihnrnp
antihormonal
antihormone
antihost
antihp1
antihsp60
antihsp65
antihsp70
antihsv
antihuman
antihyperglycemic
antihypertensive
antihypertensives
antiifngamma
antiifnomega
antiige
antiigfirinsr
antiigm
antiigminduced
antiiia
antiil17f
antiil6
antiil8
antiimmunity
antiinfectious
antiinfective
antiinflammation
antiinflammatory
antiinflammatoryantithrombotic
antiinflammatoryregulatory
antiinfluenza
antiinsulin
antiintegrin
antiinvasion
antiinvasive
antiinvasiveness
antiischemic
antiislet
antijo1
antikir2dl4
antiku
antila
antilaryngocarcinoma
antilassb
antileptin
antileukaemic
antileukemia
antileukemic
antilfa1based
antililrb1
antilipolytic
antilymphangiogenic
antilyve1
antim3r
antimad2
antimalarial
antimalarials
antimalignant
antimda5
antimetabolite
antimetabolites
antimetastasis
antimetastatic
antimicrobial
antimicrobials
antimicrotubule
antimigraine
antimigratory
antimir
antimir130a
antimir16
antimir182
antimir191
antimir197
antimir221
antimir3713
antimirs
antimitochondrial
antimitogenic
antimitotic
antimm
antimony
antimpo
antimullerian
antimutagenicity
antimycin
antimycobacterial
antimycobacterium
antimyeloma
antimyosin
antinatriuresis
antinecrotic
antineoplastic
antineoplastics
antineutrophil
antinociception
antinociceptive
antinuclear
antinxp2
antinyeso1
antiobesity
antiobesityantidiabetes
antioestrogen
antioncogene
antioncogenic
antioncomirs
antioncoprotein
antiopn1lw
antiopsonic
antiosteosarcoma
antioxidant A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides. In European countries, E-numbers for permitted antioxidant food additives are from E 300 to E 324.
antioxidantonly
antioxidantpigment
antioxidantresponse
antioxidantresponseelementmediated
antioxidantresponsive
antioxidants
antioxidase
antioxidation
antioxidative
antioxidativenitrative
antiparallel
antiparasitic
antipause
antipc
antipecamnanocarriers
antipenicillin
antipeptide
antipermeability
antiphospholipid
antipig
antiplasmin
antiplatelet
antiplgf
antipodoplanin
antiporcine
antiport
antiporter
antiporters
antipr3
antiprogestational
antiprogestin
antiprogrammed
antiproliferating
antiproliferation
antiproliferative
antiprotease
antiproteases
antiprotein
antiproteinuric
antiprotozoal
antipsychotic
antipsychoticfree
antipsychoticinduced
antipsychoticnaive
antipsychotics
antipv1
antirage
antirankligand
antiras
antirecombinase
antirecombinogenic
antirejection
antiremodelling
antirepressor
antiresorptive
antiret
antiretroviral
antirheumatic
antirheumatoid
antirhuepo
antiribp0
antiribp1
antiribp2
antirnap
antiro
antiro52
antirola
antirolanegative
antirossa
antirplp0
antiruvbl12
antisaccade
antisaccharomyces
antiscl70
antisecretory
antisenescence
antisense
antisenseablated
antisensehmg1
antisensemediated
antiseptic
antisera
antisheath
antisigma
antisignal
antisilencing
antism
antisocial
antisperm
antissa
antissaro
antistress
antisumo
antisumo1immunocapture
antisynthetase
antitb
antitge
antithrombin
antithrombinbased
antithrombinbinding
antithrombinheparin
antithrombinindependent
antithrombins
antithrombogenic
antithrombotic
antithymocyte
antithyroid
antitif1gamma
antitim3
antitissue
antititin
antitlr3
antitlr4
antitnf
antitnfalpha
antitopo
antitopoisomerase
antitopoisomerasepositive
antitpo
antitransforming
antitransglutaminase
antitrophoblast
antitrypsin
antittg
antitubercular
antituberculosis
antituberculous
antitumor
antitumoral
antitumorigenic
antitumour
antiu1snrnp
antivascular
antivegf
antivegfa
antiviral
antivirals
antivirus
antivn
antivwf
antiwnt5a
antixa
antiyoassociated
antizyme
antizymebinding
antleybixler
antofloxacin
antogonizes
antral
antralisation
antrocin
antrodia
antrum
antxr2 anthrax toxin receptor 2|This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
antxr2dependent
anulus
anus The posterior opening of the alimentary canal.
anx
anx2
anx7
anxa1 annexin A1|This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014]
anxa11 annexin A11|This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain the calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, May 2013]
anxa1induced
anxa2 annexin A2|This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
anxa4 annexin A4|Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. [provided by RefSeq, Jul 2008]
anxa5 annexin A5|The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008]
anxa6 annexin A6|Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]
anxa6depleted
anxa7 annexin A7|Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]
anxiety Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.
anxietydepressive
anxietylike
anxietyrelated
anxiogenic
anxiolyticlike
anxious
anxs
any
anymore
ao7
aoa1
aoah acyloxyacyl hydrolase (neutrophil)|This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]
aop1
aorta The great arterial trunk that carries blood from the heart to be distributed by branch arteries through the body.
aortae
aortagonadmesonephros
aortal
aortas
aortic
aortoiliac
aortopathy
aos
aos1
aosd
aot5cyp
aox
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]
ap1
ap15
ap1730
ap180
ap1a
ap1activation
ap1are
ap1b
ap1bdeficient
ap1binding
ap1cjun
ap1crelike
ap1cyclin
ap1dependent
ap1gamma
ap1like
ap1mediated
ap1nfkappab
ap1pma
ap1regulated
ap1responsive
ap1s3 adaptor-related protein complex 1, sigma 3 subunit|This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
ap1tgfbeta1
ap2
ap2a
ap2alpha
ap2alpharb
ap2beta
ap2clathrin
ap2epsilon
ap2g
ap2gamma
ap2like
ap2mediated
ap2mu
ap2picalm
ap2positive
ap2sp1
ap3
ap3a
ap3abinding
ap3b1 adaptor-related protein complex 3, beta 1 subunit|This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
ap3s1 adaptor-related protein complex 3, sigma 1 subunit|
ap4
ap4a
ap4b1 adaptor-related protein complex 4, beta 1 subunit|This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
ap4deficiency
ap5
ap50
ap736
apa
apa1
apaf1 apoptotic peptidase activating factor 1|This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
apaf1caspase9
apaf1caspasedependent
apaf1cytochrome
apaf1interacting
apai
apak
apap
apapinduced
apart
aparticle
apas
apathy Lack of emotion or emotional expression; a disorder of motivation that persists over time.
apatite
apba2 amyloid beta (A4) precursor protein-binding, family A, member 2|The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
apbdu
apc A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis. Substrate recognition by APC occurs through degradation signals, the most common of which is termed the Dbox degradation motif, originally discovered in cyclin B.
apc1
apc10
apc11
apc1a
apc2 adenomatosis polyposis coli 2|
apc2cell
apc3
apc3cdc27
apc4
apc5
apc6cdc16
apc7
apc8
apc8cdc23
apcactivated
apcaxin
apcbetacatenin
apcbetacatenincontaining
apcc
apcccdc20
apcccdc20mediated
apcccdh1
apcccdh1dependent
apccdc20
apccdh1
apccdh1induced
apccdh1mediated
apccfzr
apccfzy
apccindependent
apccmediated
apccofactor
apcdependent
apcdepleted
apcgsk3beta
apcindependent
apcinteracting
apcinteractive
apcl
apcmediated
apcmin
apcmutyh
apcpci
apcphospholipid
apcprotein
apcr
apcresistant
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
apctruncated
apd
apdna
ape
ape1
ape1148
ape1asp148glu
ape1induced
ape1npm1
ape1ref1
ape1ref1stat3
ape1s
ape1small
ape2
apee3
apeh acylaminoacyl-peptide hydrolase|This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]
apelin
apelin13
apelin13induced
apelinagtrl1
apelinapj
apelinlike
apelins
apendonuclease
apepol
aperef1
apert
aperture
apes
apex The anterior most point of a dinoflagellate epicone.
apex1 APEX nuclease (multifunctional DNA repair enzyme) 1|Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]
apf
apfmediated
apg
apg12papg5p
apg2
apg3paut1p
apgar
aph1
aph1a APH1A gamma secretase subunit|This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]
aph1al
aph1as
aph1b APH1B gamma secretase subunit|This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
aphanizomenon
aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
apheresis
aphidicolin A tetracyclic diterpenoid that has an tetradecahydro-8,11a-methanocyclohepta[a]naphthalene skeleton with two hydroxymethyl substituents at positions 4 and 9, two methyl substituents at positions 4 and 11b and two hydroxy substituents at positions 3 and 9. An antibiotic with antiviral and antimitotical properties. Aphidicolin is a reversible inhibitor of eukaryotic nuclear DNA replication.
aphinduced
aphthous
aphtous
api
api1
api2
api2malt1
api2malt1dependent
api5 apoptosis inhibitor 5|This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
apical Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical.
apicalbasolateral
apically
apice
apicidin
apicidinmediated
apicobasal
apigenin A trihydroxyflavone that is flavone substituted by hydroxy groups at positions 4', 5 and 7.
apim
apip APAF1 interacting protein|APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]
apj
apkc
apkciota
apkciotalambda
apkciotalambdadependent
apkclambdaiota
apkclambdaiotail6
apkcmediated
apkcp62traf6
apkczeta
apl An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and micro granular (hypo granular) variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) -- 2003|An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001)
apla
aplasia
aplastic
aplderived
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]
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]
aplnr apelin receptor|This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]
aplp1 amyloid beta (A4) precursor-like protein 1|This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
aplp2 amyloid beta (A4) precursor-like protein 2|This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
apls
aplysia
apm
apm1
apmcf1
apn
apncd13
apndependent
apnea Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
apneahypopnea
apnmediated
apnoea
apo
apo010mediated
apo1
apo10ol
apo11q
apo1cd95jnk
apo1on
apo2
apo2l
apo2ltrail
apo2ltrailbased
apo2ltrailinduced
apo2ltumor
apo3ah
apo4
apoa
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]
apoa1and
apoa1apoa5
apoa1c3a4a5
apoa1c3a5
apoa1dependent
apoa1mspi
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]
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]
apoa41
apoa42
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]
apoa51131
apoa51131c
apoa51131tc
apoa5znf259
apoai
apoaiabca1
apoaiapoe
apoaiciiiaiv
apoaidependent
apoaii
apoaiicontaining
apoaimediated
apoaipoor
apoaiv
apoal
apoapcc
apoav
apob apolipoprotein B|This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008]
apob100
apob1000
apob100apoai
apob100containing
apob48
apob48r
apoba1
apobac3a
apobac3c
apobai
apobapoa
apobapoa1
apobapoai
apobcontaining
apobea3d
apobea3f
apobea3g
apobea3hhapii
apobec Protein complex that mediates editing of the mRNA encoding apolipoprotein B; catalyzes the deamination of C to U (residue 6666 in the human mRNA). Contains a catalytic subunit, APOBEC-1, and other proteins (e.g. human ASP; rat ASP and KSRP).
apobec1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1|This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
apobec1enhanced
apobec1mediated
apobec2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2|
apobec3
apobec3a apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A|This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
apobec3aapobec3b
apobec3b apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B|This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
apobec3c apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C|This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008]
apobec3d apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D|This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008]
apobec3de
apobec3f apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F|This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
apobec3fa3f
apobec3fgspecific
apobec3g apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G|This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. The protein encoded by this gene has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Jul 2008]
apobec3g3f
apobec3gedited
apobec3gf
apobec3ginduced
apobec3h
apobec3mediated
apobecdependent
apobldl
apoblipoprotein
apoblipoproteins
apoblppla2
apoc1 apolipoprotein C-I|The protein encoded by this gene is a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
apoc2 apolipoprotein C-II|This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
apoc3 apolipoprotein C-III|Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008]
apoc3482ct
apoc4apoc2
apocam
apoceruloplasmin
apoci
apocii
apociii
apociiicontaining
apocimediated
apociv
apocrine
apocynin
apocytochrome
apod apolipoprotein D|This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008]
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]
apoe2
apoe3
apoe3e2
apoe3leiden
apoe4
apoe44
apoe4dependent
apoe4induced
apoeabeta
apoeace
apoeamyloid
apoeapoe4
apoec1c4c2
apoecarrying
apoecontaining
apoedeficient
apoedependent
apoee4
apoeenriched
apoeepsilon
apoeepsilon4
apoeepsilon4chrna4
apoeepsilon4negative
apoeinduced
apoeldlr
apoemediated
apoenzyme
apoepsilon4
apoer2
apoesdc4
apoetomm40
apoetransfected
apoevarepsilon4
apoevarepsilon4associated
apof apolipoprotein F|The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008]
apoforms
apohtf
apoj
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]
apol1myh9
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]
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]
apolar
apolf
apoli
apolipoprotein
apolipoproteina
apolipoproteina4
apolipoproteinc3
apolipoproteine
apolipoproteinlike
apolipoproteins
apoliprotein
apollo
apollon
apom apolipoprotein M|The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012]
apomtg
apomucins
apomyoglobin
aponeuroses
apool apolipoprotein O-like|This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011]
apoplexy A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)|A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)|A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH).|A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.|Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.
apopotosis
apoprotein
apoproteins
apoptin
apoptininduced
apopto
apoptogenesis
apoptogenic
apoptopsis
apoptosic
apoptosing
apoptosis
apoptosisactivating
apoptosisanoikis
apoptosisassociated
apoptosisautophagy
apoptosisblocking
apoptosisboth
apoptosisdeficient
apoptosisindependent
apoptosisinduced
apoptosisinducer
apoptosisinducible
apoptosisinducing
apoptosisinduction
apoptosisinductor
apoptosisinhibiting
apoptosisinhibitor
apoptosisinitiated
apoptosislinked
apoptosismediated
apoptosismediating
apoptosismesc
apoptosispermissive
apoptosisproliferation
apoptosispromoting
apoptosispuma
apoptosisregulating
apoptosisregulatory
apoptosisrelated
apoptosisresistance
apoptosisresistant
apoptosisspecific
apoptosisstimulating
apoptosissuppressing
apoptosisthe
apoptosomal
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.
apoptosomemediated
apoptotic
apoptotically
apoptoticinducing
apoptoticinhibitory
apoptoticsignalling
apoptotis
apoptotoic
apos100b
aposgcbeta1
apositive
aposuperoxide
apotential
apotentiated
apotf
apotosis
apotransferrin
app amyloid beta (A4) precursor protein|This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]
app23
app695
app751
appalpha
apparatus
apparatuser
apparatusindependent
apparatuslocalized
apparent
apparently
appbace1
appbp1
appbp1uba3
appbp1uba3nedd8
appbp1uba3s
appcleaving
appctf
appctfs
appcts
appdependent
appealing
appear
appearance
appeared
appearing
appears
appeasing
appeear
appendage
appendages
appendectomy
appendiceal
appendicitis A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.
appendicular
appendix A narrow blind tube usually about three or four inches (7.6 to 10.2 centimeters) long that extends from the cecum in the lower right-hand part of the abdomen, has much lymphoid wall tissue, normally communicates with the cavity of the cecum, and represents an atrophied terminal part of the cecum.|Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix.
apperar
appetite
appetiteregulating
appetitive
appfe65
appinteracting
appl
appl1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1|The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
appl12
appl1dependent
appl1labelled
appl1lkb1dependent
appl1related
appl2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2|The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]
apple
appliances
applicability
applicable
application
applications
applied
applies
applike
apply
applying
appmediated
appoint
appolon
apposed
apposition
apppositive
apppresenilin
apppresenilin1
appprotease
appps1
appps1htau
appraisal
appreciable
appreciably
appreciated
appreciation
appregulated
approach
approachavoidance
approached
approaches
approachesreview
approaching
appropriate
appropriateforgestational
appropriateforgestationalage
appropriately
appropriateness
approval
approved
approx
approximate
approximately
approximation
apps
appsalpha
appsod1
appsw
appswe
appswepresenilin1deltae9deleted
appsweps1de9
appsweps1m146v
apptransgenic
appwt
appxps1
apr
apr1
apr3
apr834
aprataxin
apraxia An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
apri
april
aprilmediated
apriltaci
apriltacispecific
aprin
apromoted
apromoter
aprotinin
aps
aps1
apt
apt2
apta
aptamer
aptamerfacilitated
aptamers
aptitude
aptr
aptx aprataxin|This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
apurinic
apurinicapyrimidinic
apyrase
apyrene
aqp
aqp1 aquaporin 1 (Colton blood group)|Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
aqp10
aqp11 aquaporin 11|
aqp12
aqp2 aquaporin 2 (collecting duct)|This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
aqp3 aquaporin 3 (Gill blood group)|This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. [provided by RefSeq, Aug 2011]
aqp3notch1
aqp4 aquaporin 4|This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
aqp5 aquaporin 5|Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]
aqp5p38
aqp6 aquaporin 6, kidney specific|The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]
aqp7
aqp8
aqp9 aquaporin 9|The aquaporins are a family of water-selective membrane channels. The protein encoded by this gene allows passage of a wide variety of noncharged solutes. It stimulates urea transport and osmotic water permeability; there are contradicting reports about its role in providing glycerol permeability. The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. [provided by RefSeq, Jul 2008]
aqp9induced
aqps
aqua
aquaporin Transport systems of this type catalyze facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
aquaporin1
aquaporin2
aquaporin4
aquaporin5
aquaporins
aqueduct
aqueducts
aqueous
aquired
ar114
ar42j
ar45
ara
ara24ran
ara267alpha
ara54
ara54enhanced
ara70
arab
arabia
arabian
arabic
arabidopsis
arabinoside
arabinosideinduced
arabmuslim
arabs
arac
arachidonate
arachidonic
arachidonoylglycerol
arachnodactyly Abnormally long and slender fingers (spider fingers).
arachnoid
aracresistant
aractp
arad52
araf A-Raf proto-oncogene, serine/threonine kinase|This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012]
aralipoarabinomannan
araomatic
arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1|The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
arap1arf15
arap2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2|The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]
arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3|This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2008]
arb
arbitrary
arbitrate
arborization
arbors
arbound
arc activity-regulated cytoskeleton-associated protein|
arc105
arc1mosc1
arc2mosc2
arca
arcagn
arcap
arch
archaea
archaeal
archaemetzincin1
archazolid
archease
arches
archetypal
archetypical
architectural
architecture
architectures
archival
archive
archived
archvillin
arcis
arcmt
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]
arcoactivator
arcrd
arcs Catalysis of the reaction: L-glutamine + 7-cyano-7-carbaguanine15 in tRNA + H2O = L-glutamate + archaeine15 in tRNA.
arctic
arcuate
ard
ard1
ard1b
ard1tsc2mtor
ardeltactd
ardependent
ardriven
ards
are2
area A 2-D extent quality inhering in a bearer by virtue of the bearer's two dimensional extent.|An area is a size quality which describes the two dimensional extent of a material entity.
areal
arealization
areas
areata
areaurich
areavta
arebinding Interacting selectively and non-covalently with a region of RNA containing frequent adenine and uridine bases.
arebp
areca
arecaassociated
areceptor
arecoline A tetrahydropyridine that is 1,2,5,6-tetrahydropyridine with a methyl group at position 1, and a methoxycarbonyl group at position 3. An alkaloid found in the areca nut, it acts as an agonist of muscarinic acetylcholine.
arecontaining
aredependent
aredirected
aredriven
areds
areepre
areepredependent
areflexia Absence of neurologic reflexes such as the knee-jerk reaction.
areg amphiregulin|The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014]
aregegfr
aregfr
aregulated
areindependent
areis
arelated
aremediated
aremrna
arena
arenavirus
arenaviruses
arenhanced
areolar
arep
arer
arerich
ares
aresolution
arexpressing
arf
arf1 ADP-ribosylation factor 1|ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
arf1arf3
arf1arf4
arf1dependent
arf1gtp
arf1phospholipase
arf3 ADP-ribosylation factor 3|ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq, Jul 2008]
arf4 ADP-ribosylation factor 4|This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008]
arf4l
arf4mediated
arf5 ADP-ribosylation factor 5|This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010]
arf5arf6
arf6 ADP-ribosylation factor 6|This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008]
arf6acap1
arf6dependent
arf6gap
arf6gtp
arf6mediated
arf6pip5k
arfaptin
arfaptin1
arfaptin2
arfbinding Interacting selectively and non-covalently with ARF, ADP-ribosylation factor, a small monomeric cytosolic GTPase that, when bound to GTP, binds to the membranes of cells.
arfbp1
arfdependent
arfgap
arfgap1 ADP-ribosylation factor GTPase activating protein 1|The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
arfgap2 ADP-ribosylation factor GTPase activating protein 2|
arfgap3 ADP-ribosylation factor GTPase activating protein 3|The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]
arfgef1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)|ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
arfgef3 ARFGEF family member 3|
arfgtp
arfinduced
arflike
arflnaintegrin
arfmdm2p53
arfmediated
arfp53
arfpf
arfrp1 ADP-ribosylation factor related protein 1|The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
arfs
arftopo
arg
arg1 arginase 1|Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
arg100
arg114
arg135trp
arg138residues
arg142trp
arg144gln
arg15
arg155
arg156arg
arg158cys
arg163
arg1668
arg16gly
arg176trp
arg179
arg183
arg190
arg192glu
arg194arg
arg194trp
arg2 arginase 2|Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008]
arg20
arg213gly
arg214215
arg238
arg25
arg25pro
arg261
arg272ile350
arg280his
arg300
arg306
arg307
arg320
arg336
arg34
arg347
arg35
arg3765
arg381gln
arg389gly
arg399gln
arg399glu
arg415gln
arg441
arg443
arg463
arg466
arg47
arg47his
arg487tyrval
arg489alaarg490alalys493ala
arg492cys
arg498
arg500
arg506
arg506gln
arg57
arg61
arg63
arg64
arg643
arg64arg64
arg653gln
arg659
arg660
arg67
arg677trp
arg72
arg723gln
arg72pro
arg73
arg737
arg74
arg751gln
arg753gln
arg753glu
arg76
arg77
arg77cys
arg8
arg852lys859arg860
arg9
arg904gln
arg92his
arg96
arg972
arg98
argarg
argb20
argbp2
argbp2gamma
argentina
argentine
argentinean
argentinian
arggln
arggln353
argglnserser
arggly
argglyasp
arggn
arghis
argii
arginase
arginase1
arginase2
arginasei
arginaseii
arginine
arginine194tryptophan
arginine340
arginineglutamate
arginineglycinerich
argininelysinerich
argininemediated
argininemethylated
argininemethylation
argininerich
arginines
arginineserine
arginineserinerich
argininetocysteine
argininevasopressin
arginini
argininosuccinate
arginyltrna
argipressin
argleu
arglu1 arginine and glutamate rich 1|
argonaute
argonaute1
argonaute12
argonaute2
argonaute3
argonautes
argpro
argser
argtrp
arguably
argue
argues
arguing
argument
arguments
argyrophilic
arh
arhgap10 Rho GTPase activating protein 10|
arhgap12 Rho GTPase activating protein 12|This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
arhgap13
arhgap14
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]
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]
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|
arhgap30 Rho GTPase activating protein 30|
arhgap36 Rho GTPase activating protein 36|
arhgap4 Rho GTPase activating protein 4|This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
arhgap5 Rho GTPase activating protein 5|Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
arhgap6 Rho GTPase activating protein 6|This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
arhgdia Rho GDP dissociation inhibitor (GDI) alpha|This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
arhgdibeta
arhgef1 Rho guanine nucleotide exchange factor (GEF) 1|Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
arhgef12 Rho guanine nucleotide exchange factor (GEF) 12|Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
arhgef15 Rho guanine nucleotide exchange factor (GEF) 15|Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
arhgef16 Rho guanine nucleotide exchange factor (GEF) 16|Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008]
arhgef3 Rho guanine nucleotide exchange factor (GEF) 3|Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
arhgef5src
arhgef6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6|Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008]
arhgef7 Rho guanine nucleotide exchange factor (GEF) 7|Rho GTPases play a fundamental role in numerous cellular processes triggered by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. This protein can induce membrane ruffling. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
arhi
arhr
arhsp
ari
aria
ariadne
ariation
aric
arid
arid1a AT rich interactive domain 1A (SWI-like)|This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and 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, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
arid1abaf250a
arid1b AT rich interactive domain 1B (SWI1-like)|This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012]
arid3a AT rich interactive domain 3A (BRIGHT-like)|This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
arid3b AT rich interactive domain 3B (BRIGHT-like)|This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
arid4a AT rich interactive domain 4A (RBP1-like)|The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]
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]
aright
arih
arih1 ariadne RBR E3 ubiquitin protein ligase 1|
arih2 ariadne RBR E3 ubiquitin protein ligase 2|
arinduced
aring
arinhibition
arip4
aripiprazole A quinolone that has formula C23H27Cl2N3O2.
arise
arisen
arises
arising
aristaless
aristolochic
arithmetic
arix
arjp
ark5
arkadia
arkl1
arl
arl1 ADP-ribosylation factor-like 1|The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
arl13b ADP-ribosylation factor-like 13B|This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
arl15 ADP-ribosylation factor-like 15|
arl16 ADP-ribosylation factor-like 16|
arl1arfaptin2
arl2 ADP-ribosylation factor-like 2|This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]
arl2gtpbart
arl3 ADP-ribosylation factor-like 3|ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]
arl3gppnhp
arl4a ADP-ribosylation factor-like 4A|ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
arl4ainteracting
arl4c ADP-ribosylation factor-like 4C|ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]
arl4d ADP-ribosylation factor-like 4D|ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008]
arl5
arl6 ADP-ribosylation factor-like 6|The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). Alternative splicing results in multiple transcript variants of this gene. A vision-specific transcript encoding a different protein has been described (PMID: 20333246). [provided by RefSeq, May 2013]
arl7
arl701h
arl8
arl8b ADP-ribosylation factor-like 8B|
arlts1
arm A human upper limb; especially: the part between the shoulder and the wrist.
armadillo
armadillobetacatenin
armamentarium
armc8alpha
armc8beta
armcx2 armadillo repeat containing, X-linked 2|This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]
armd Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.|Degenerative changes in the macula lutea of the retina.
armed
armediated
armediating
armenia
armenian
armet
armigeres
arms A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.|Alveolar
arms2
arms2htra
arms2htra1
arms2loc387715
armspcr
armsreview
armtype
armus
army
arn127
arno
arnoarf6
arnox
arnshl
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]
arnt1
arnt2 aryl-hydrocarbon receptor nuclear translocator 2|This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]
arnt2hif1alpha
arnt2sim1
arntl aryl hydrocarbon receptor nuclear translocator-like|The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
arntl1
arntl2 aryl hydrocarbon receptor nuclear translocator-like 2|This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
arntlike
arnull
aro
aroa
aroi
arole
aromatase
aromatasedeficient
aromatic
aromaticheterocyclic
aromaticity
aromatics
aromaticturmerone
aromatization
aronj
aros
arose
around
arousal
arp
arp1
arp2
arp23
arp23based
arp23complex
arp23complexdependent
arp23dependent
arp23driven
arp23mediated
arp23vcaindependent
arp2actin
arp2arp3
arp3
arp3mediated
arp44smad1
arp6
arp7a
arpa
arpc
arpc1b actin related protein 2/3 complex, subunit 1B, 41kDa|This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]
arpc5 actin related protein 2/3 complex, subunit 5, 16kDa|This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
arpd
arpe19
arpikfyve
arpkd
arpositive
arpp
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]
arq
arranged
arrangement
arrangementpositive
arrangements
array An instrument which consists of nucleic acid or protein molecules bound to a substrate
arraybased
arraycgh
arraycomparative
arrayed
arrays
arrb1 arrestin, beta 1|Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]
arrb2 arrestin, beta 2|Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
arrdc1 arrestin domain containing 1|
arrdc3 arrestin domain containing 3|
arregulated
arresponsive
arrest
arrested
arresten
arrestin
arrestin1
arrestin2
arrestin3
arrestindependent
arrestinduced
arrestinducing
arresting
arrestinmediated
arrestins
arrestinubiquitin
arrests
arrestspecific
arrestspecific6
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.
arrhythmiaassociated
arrhythmias
arrhythmic
arrhythmogenesis
arrhythmogenic
arrhythmogenicity
arrival
arrives
arrow
arrp
arrythmogenic
ars
ars2
arsa arylsulfatase A|The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
arselective
arsenal
arsenate
arsenic
arsenicals
arsenicassociated
arsenicinduced
arsenicosis
arsenicrelated
arsenicresistant
arsenictransformed
arsenite
arseniteinduced
arseniteinducible
arsenitemediated
arser81
arsg arylsulfatase G|The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
arsgk3p70s6kcyclin
art
art27
artargeted
artd1
artd15
artd8
artd9
artefacts
artemin
artemis
artemisdeficient
artemisdnapkcs
artemisinin
arter
arterial
arterialization
arterialvenous
arteries
arteriesreview
arteriogenesis The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs.
arteriogenic
arteriolar
arterioles
arteriolosclerosis
arteriopathy
arteriosclerosis An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
arteriosclerotic
arteriosus
arteriovenous
arteritis Arterial inflammation.
artert
artery Any of the tubular branching muscular- and elastic-walled vessels that carry blood from the heart through the body.
arterydisease
artesunate
artety
arthitis
arthralgia Joint pain.
arthrinium
arthritic
arthritides Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints.
arthritis Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints.
arthritisassociated
arthritisfibroblastlike
arthritisinduced
arthritisjia
arthritisra
arthritisspecific
arthritogenic
arthrits
arthrogryposis Persistent flexure or contracture of a joint. (Dorland, 27th ed)
arthropathies
arthropathy A bone inflammation disease that is located_in joint.
arthroplasty
arthroscopic
article
articles
articular The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate.
articulate
artifact
artifacts
artificial
artificially
artistic
artmprss2ergwnt
artn artemin|The protein encoded by this gene is a member of the glial cell line-derived neurotophic factor (GDNF) family of ligands which are a group of ligands within the TGF-beta superfamily of signaling molecules. GDNFs are unique in having neurotrophic properties and have potential use for gene therapy in neurodegenerative disease. Artemin has been shown in culture to support the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. Its role in the PNS and CNS is further substantiated by its expression pattern in the proximity of these neurons. This protein is a ligand for the RET receptor and uses GFR-alpha 3 as a coreceptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
artriosclerosis
arts
arts1associated
arts1nucleobindin
arv1 ARV1 homolog (S. cerevisiae)|
arv7
arvc
arvcf armadillo repeat gene deleted in velocardiofacial syndrome|Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]
arvd
arvd1
arvd2associated
arvdc
arwhhypotrichosis
arx
aryl
arylamine
arylamines
arylesterase
arylhydrocarbon
arylsulfatase
arylsulfonamide
arylsulphatase
as1
as1411
as155r
as160
as2
as2o3
as2o3induced
as3
as30d
as3mt arsenite methyltransferase|AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]
as77
asa
asaa
asah
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]
asap
asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1|This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
asap1gefh1
asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3|This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
asb
asb2 ankyrin repeat and SOCS box containing 2|This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
asb2alphamediated
asb3 ankyrin repeat and SOCS box containing 3|The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011]
asb9 ankyrin repeat and SOCS box containing 9|This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
asbestos Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements.
asbestosexposed
asbestosexposure
asbestosinduced
asbestosis A pneumoconiosis caused by inhalation and retention of asbestos fibers.
asbestosrelated
asbt
asc
asc1
asc2
asca
ascadditionally
ascc
ascc1 activating signal cointegrator 1 complex subunit 1|This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
ascc3 activating signal cointegrator 1 complex subunit 3|This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
ascdependent
ascending
ascent
ascertain
ascertained
ascertaining
ascertainment
asch
ascididemin
ascites Accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen.
ascitesderived
ascitic
ascizdynll1
ascl1 achaete-scute family bHLH transcription factor 1|This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]
ascl1pathway
ascl2 achaete-scute family bHLH transcription factor 2|This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]
ascmediated
ascochlorin
ascom
ascommll3
ascommll4
ascorbate
ascorbatedependent
ascorbateinduced
ascorbic
ascribe
ascribed
ascs
asct
asct1
asct2
asd
asdlike
asds
ase
asef
asef2
asensitive
aseptic
asf
asf1
asf1a anti-silencing function 1A histone chaperone|This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]
asf1aindependent
asf1antisilencing
asf1b anti-silencing function 1B histone chaperone|This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008]
asf1h3h4mcm27
asfsf2
asfsf2associated
asfv
asgpr
asgr
ash
ash1
ash1l ash1 (absent, small, or homeotic)-like (Drosophila)|This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
ash1mediated
ash2
ash2l ash2 (absent, small, or homeotic)-like (Drosophila)|
ashk
ashkenazi
ashkenazim
asia
asialoglycoprotein
asialogm1
asian Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.
asianderived
asianindian In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.
asianindians In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.
asians Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.
asiansmetaanalysis
asianspecific
asiansreview
asibasic
asic
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]
asic1a
asic1a2a
asic1aasic2a
asic2 acid sensing (proton gated) ion channel 2|This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
asic2a
asic3 acid sensing (proton gated) ion channel 3|This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
asic4 acid sensing (proton gated) ion channel family member 4|This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
asics
aside
asiii
asiiiinduced
asinglestranded
asip agouti signaling protein|In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]
asiv
ask
ask1
ask1dependent
ask1erkp38
ask1foxo3atraddcaspase
ask1induced
ask1interacting
ask1jnk
ask1jnk1
ask1jnkp38
ask1mediated
ask1mekjnkp38bimbaxdependent
ask1mkk4jnk
ask1mkk4jnk3
ask1mkk4p38mapkjnk
ask1p38
ask1sek1jnk
ask1sek1jnk1hipk1
ask1thioredoxin
ask2
askdbf4
askl1
asl argininosuccinate lyase|This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
asm
asm8
asma
asmase
asmc
asmcs
asmderived
asmndependent
asmt
asn
asn102
asn110
asn118asn
asn1288
asn148glu
asn175
asn248
asn289
asn290
asn302
asn306ser
asn312
asn312asn
asn40asp
asn453ser
asn49
asn78ile
asn89
asn95
asna1transmembranedomain
asna1trc40dependent
asnasn
asnresidues
asns asparagine synthetase (glutamine-hydrolyzing)|The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
asnser
aso
asociated
asociation
asodn
asosciated
asp
asp109tyr
asp1104
asp1104asp
asp119
asp140asp
asp142asp
asp145
asp148glu
asp1595
asp175asn
asp181
asp293
asp299gly
asp299glywere
asp312asn
asp315
asp32
asp330
asp353glu
asp358ala
asp382
asp398asn
asp40
asp421cleaved
asp42gly
asp816val
asp919gly
asparagin
asparaginase
asparagine
asparaginelinked
asparagines
asparaginyl
aspartate
aspartate187
aspartates
aspartatetotal
aspartic
aspartyl
aspartyltrna
aspasn
aspasp
aspc1
aspd
aspecific
aspect
aspects
asperger
aspergillosis An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
aspergillus
aspglu
aspglualaasp
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]
asphishiscys
asphyxia
asphyxiated
asphyxiating
aspirate
aspirates
aspiration Inspiration of a foreign object into the airway.
aspirations
aspirin
aspirinexacerbated
aspirininduced
aspirinintolerant
aspirinintolerantasthma
aspirinmediated
aspirinpersistent
aspirinsensitive
aspirintolerant
aspirintreated
aspl
asplenia Absence (aplasia) of the spleen.
aspltfe3
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
asporin
aspp
aspp1
aspp2
aspp253bp2l
aspp2anksh3
aspp2betacateninecadherin
aspp2dda3
asps
aspscr1tfe3
asrs
ass
ass1 argininosuccinate synthase 1|The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
assam
assassociated
assault
assay
assayed
assaying
assays
assciated
asscociated
asscoiated
assemble
assembled
assembles
assemblies
assembling
assembly
assemblycompromised
assemblydisassembly
assemblystability
assertion
assess
assessed
assesses
assessing
assessment
assessments
asset
assiciated
assiciation
assign
assigned
assigning
assignment
assignments
assigns
assimilation
assiociated
assist
assistance
assistant
assisted
assisting
assists
assoc
assocaited
assocated
assocation
assocciated
assocd
associ9ated
associaed
associataed
associatd
associate
associateds100a8a9
associatedubiquitin
associateed
associates
associatetd
associating
associationdissociation
associationinduced
associations
associative
associaton
associatted
associayed
associiated
associtated
associted
assocition
assocn
assocoated
assoiated
assoicated
assopciated
assoscsiated
assosiated
assosiates
asspciated
asssociaed
asssociated
asssociation
assume
assumed
assumes
assuming
assumption
assumptions
assurance
assure
assuring
ast
astalt
astaxanthin
astca1
aste1ht001
astemizole
asters
astf
asthenospermia
asthenospermic
asthenozoospermia loss or reduction of the mobility of the spermatozoa, frequently associated with infertility
asthenozoospermic
asthma A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.
asthmaassociated
asthmalike
asthmarelated
asthmasusceptibility
asthmatic A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.
asthmatics
astigmatism Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed).
astimulated
astn2 astrotactin 2|This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]
astonishing
astoring
astragalus
astral
astrin
astroctye
astrocyte A star-shaped cell, especially a neuroglial cell of nervous tissue.
astrocytederived
astrocytemediated
astrocyteproduced
astrocytes
astrocytespecific
astrocytetimp1
astrocytic
astrocytoma A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
astrocytomas A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
astrocytomassegas
astrocytosis Proliferation of astrocytes in the area of a lesion of the central nervous system.
astroglia Neuroglia tissue made up of astrocytes.
astroglial
astroglioma A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
astrogliomas A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
astrogliosis
astrovirus
asubunit
asun asunder spermatogenesis regulator|
asun1
asura
asv
asxl1 additional sex combs like transcriptional regulator 1|This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
asxl2 additional sex combs like transcriptional regulator 2|ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM, Sep 2009]
asxl2mediated
asy
asyet
asyetundiscovered
asyetunidentified
asyinduced
asyip
asymmetric
asymmetrical
asymmetrically
asymmetries
asymmetry
asymptomatic
asymptotically
asyn
asynchronous
asynchrony
at1
at101
at1381
at1a
at1aas
at1ar
at1at2
at1b2r
at1cox2pge2
at1mediated
at1pkcpkd
at1r
at1ra
at1rb2r
at1receptor
at1receptors
at1rmediated
at1roserk12
at1rpositive
at2
at2r
at2r1
at2ractivity
at2receptor
at3
at4
at4r
at8
ata
ata1
ataa
atac
atacicept
atack
atad
atad2 ATPase family, AAA domain containing 2|A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]
atad3
atad3a ATPase family, AAA domain containing 3A|ATAD3A and ATAD3B (MIM 612317) are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008]
atad3b ATPase family, AAA domain containing 3B|ATAD3A (MIM 612316) and ATAD3B are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008]
atad5 ATPase family, AAA domain containing 5|
atafi
atap
atase1
atase2
ataxia
ataxiacausing
ataxias
ataxiasca
ataxiatelangiectasia
ataxiatelangiectasiamutated
ataxiatelangiectasiamutatedatm
ataxic
ataxin
ataxin1
ataxin10
ataxin1q84
ataxin2
ataxin3
ataxin7
ataxinl
ataxn1
atazanavir
atazanavirassociated
atazanavirinduced
atbf1
atbinding Interacting selectively and non-covalently with oligo(A) and oligo(T) tracts of DNA (AT DNA).
atc
atca
atcatenin
atcatg
atcc
atcl
atcs
atctt
atd
atdc
atdc5
atdh
atdili
atdinduced
atdtolerant
ater
atf
atf1 activating transcription factor 1|This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010]
atf1and
atf2 activating transcription factor 2|This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014]
atf2dependent
atf2jun
atf2mediated
atf2stat3
atf3 activating transcription factor 3|This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011]
atf3fl
atf3nag1
atf3nfkappab
atf3silencing
atf4 activating transcription factor 4|This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011]
atf4deficient
atf4dependent
atf4independent
atf4mediated
atf4regulated
atf5 activating transcription factor 5|
atf5dependent
atf5targeted
atf6 activating transcription factor 6|This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]
atf6alpha
atf6alphamediated
atf6alpharhebmtor
atf6beta
atf6chop
atf6dependent
atf6mediated
atf7 activating transcription factor 7|
atf74
atf7ip activating transcription factor 7 interacting protein|ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]
atf7ip2 activating transcription factor 7 interacting protein 2|
atf7ipmbd1
atfcamp
atfcre
atfcreb
atg
atg1
atg101
atg12 autophagy related 12|Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]
atg12atg3
atg12atg5
atg12atg5atg16n
atg13 autophagy related 13|
atg14 autophagy related 14|
atg14l
atg16l
atg16l1 autophagy related 16-like 1 (S. cerevisiae)|The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
atg16l1binding
atg16l1positive
atg16l2 autophagy related 16-like 2 (S. cerevisiae)|
atg1ulk1
atg2
atg2a autophagy related 2A|
atg2b autophagy related 2B|
atg3 autophagy related 3|This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
atg4
atg4a autophagy related 4A, 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. Transcript variants that encode distinct isoforms have been identified. [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]
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]
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]
atg5 autophagy related 5|
atg7 autophagy related 7|This gene was identified based on homology to Pichia pastoris GSA7 and Saccharomyces cerevisiae APG7. In the yeast, the protein appears to be required for fusion of peroxisomal and vacuolar membranes. The protein shows homology to the ATP-binding and catalytic sites of the E1 ubiquitin activating enzymes. [provided by RefSeq, Jan 2009]
atg7caspase9
atg8
atg8lapg8l
atg8lc3
atg9
atg9a autophagy related 9A|
atg9containing
atginduced
atgl
atglcgi58
atglg0s2
athabascanspeaking
athanogene
atheroclerosis
atherogenesis A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.
atherogenic
atherogenicity
atheroma
atheromas
atheromatosis
atheromatous
atheroprone
atheroprotection
atheroprotective
atheroscleros
atherosclerosis A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.
atherosclerosisassociated
atherosclerosisprone
atherosclerosisrelated
atherosclerosisreview
atherosclerotic
atherosusceptibility
atherothrombosis
atherothrombotic
athlete
athletes
athletic
athook
athymic
ati
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]
atients
atii
atiii
atiprimod
ativation
atk1
atl
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]
atlantic
atlantoaxial
atlastin
atlastin1
atlastin2
atleast
atll Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa.|This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)|Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)
atm ATM serine/threonine kinase|The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
atmampk
atmatm
atmatr
atmatrchk
atmatrdependent
atmchek2p53
atmchk1
atmchk1cdc25
atmchk2
atmchk2and
atmchk2cdc25a
atmchk2mediated
atmchk2p53
atmdependent
atmin ATM interactor|
atmindependent
atmmediated
atmmutant
atmnbs1dependent
atmnemosumoylationdependent
atmospheric
atmp53
atmp53mediated
atmp53p21
atmp95nbs1smc1
atmrad3related
atmrelated
atms
atmsignalling
atmtip60
atmtoatr
atmtraf6ciap1
atmyap1driven
atn
atn1 atrophin 1|Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Feb 2010]
atnbr1
ato
atog
atoh1 atonal homolog 1 (Drosophila)|This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008]
atoh7 atonal homolog 7 (Drosophila)|This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]
atoh8 atonal homolog 8 (Drosophila)|
atoi
atoinduced
atom
atomic
atomiclevel
atomicresolution
atomistic
atomoxetine A secondary amino compound having methyl and 3-(2-methylphenoxy)-3-phenylpropan-1-yl substituents.
atoms
atopic
atopics
atopy
atopyrelated
atorvastatin A dihydroxy monocarboxylic acid that is a member of the drug class known as statins, used primarily for lowering blood cholesterol and for preventing cardiovascular diseases.
atorvastatinmediated
atorvastatinsimvastatin
atox1 antioxidant 1 copper chaperone|This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]
atp
atp10a ATPase, class V, type 10A|The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
atp11b ATPase, class VI, type 11B|P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]
atp11c ATPase, class VI, type 11C|
atp13a2 ATPase type 13A2|This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
atp13a2knockdown
atp1a1 ATPase, Na+/K+ transporting, alpha 1 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 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
atp1a2 ATPase, Na+/K+ transporting, alpha 2 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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]
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]
atp1a4 ATPase, Na+/K+ transporting, alpha 4 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 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
atp1b1 ATPase, Na+/K+ transporting, beta 1 polypeptide|The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]
atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide|The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
atp1b3 ATPase, Na+/K+ transporting, beta 3 polypeptide|The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]
atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1|This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
atp2a2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2|This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]
atp2b1 ATPase, Ca++ transporting, plasma membrane 1|The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
atp2b3 ATPase, Ca++ transporting, plasma membrane 3|The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
atp2b4 ATPase, Ca++ transporting, plasma membrane 4|The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
atp2c1 ATPase, Ca++ transporting, type 2C, member 1|The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
atp5a1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle|This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
atp5b ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide|This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]
atp5hkctd2
atp6
atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1|This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]
atp6l
atp6v0a1 ATPase, H+ transporting, lysosomal V0 subunit a1|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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
atp6v0d1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1|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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]
atp6v0d2interacting
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]
atp7a ATPase, Cu++ transporting, alpha polypeptide|This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
atp7amediated
atp7arelated
atp7b ATPase, Cu++ transporting, beta polypeptide|This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]
atp7binteracting
atp8a1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1|The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
atp8a2 ATPase, aminophospholipid transporter, class I, type 8A, member 2|
atp8b1 ATPase, aminophospholipid transporter, class I, type 8B, member 1|This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
atpadp
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]
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]
atpase
atpase3
atpase6
atpase8
atpasedead
atpasedefective
atpasedependent
atpaseindependent
atpaseinsert
atpases
atpbinding Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
atpbound
atpc
atpcobialamin
atpcompetitive
atpdependant
atpdependent
atpdriven
atpenriched
atpgammas
atpgated
atpif1if1
atpindependent
atpinduced
atpinsensitive
atpmediated
atpmgpi
atpp2x4
atpresponsive
atpsensitive
atpstimulated
atptoadp
atr ATR serine/threonine kinase|The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]
atr1
atr2
atra
atradependent
atrainduced
atramediated
atrap
atrassociated
atratm
atratmindependent
atratreated
atratrinteracting
atratrip
atrazine A diamino-1,3,5-triazine that is 1,3,5-triazine-2,4-diamine substituted by a chloro group at position 6 while one of hydrogens of each amino group is replaced respectively by an ethyl and a propan-2-yl group.
atrbrca1chk1
atrcheckpoint
atrchek1
atrchk1
atrchk1cdc25
atrchk1cdc25c
atrchk1dependent
atrchk1mdmx1433gamma
atrchk2
atrdependent
atreg
atregs
atresia
atresias
atria
atrial
atrialspecific
atrich
atrinteracting
atrioventricular
atrip ATR interacting protein|This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
atrisk
atrium In the heart, the atrium is an upper chamber found on both sides of the heart. The left atrium receives red, oxygenated blood from the lungs by way of the pulmonary veins. The right atrium receives dark red blood from the other parts of the body.
atrmediated
atrogin1
atrogin1mediated
atrophic
atrophies
atrophin1interacting
atrophoderma
atrophy
atrophychoroidal
atropine A racemate composed of equimolar concentrations of (S)- and (R)-atropine . It is obtained from deadly nightshade (Atropa belladonna) and other plants of the family Solanaceae.
atropy
atrp53
atrp53dependent
atrselective
atrt
atrtochk1
atrx alpha thalassemia/mental retardation syndrome X-linked|The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013]
atrxdaxx
atrxpa
ats
ats1
atsc
atsp7041
att
att20
attach
attached
attaches
attaching
attachment
attachmentindependent
attachments
attack
attackfree
attacking
attacks
attain
attainable
attained
attaining
attainment
attains
attempt
attempted
attempters
attempting
attempts
attend
attendance
attendant
attended
attendees
attending
attention
attentional
attentiondeficit
attentiondeficithyperactivity
attentuates
attenuate
attenuated
attenuates
attenuating
attenuation
attenuator
attenuators
attest
attg
attg2
attgg
attgtg
attitude
attitudes
attr
attract
attractant Providing the environmental signal that initiates the directed movement of a motile cell or organism towards a higher concentration of that signal.
attractantactivator
attracted
attractin
attracting
attraction
attractive
attracts
attributable
attribute
attributed
attributes
attributing
attrition
attt
attt10
atx
atx1
atx3
atx7
atxagklpa
atxlpa
atxlpalpar
atxn1 ataxin 1|The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]
atxn10 ataxin 10|This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
atxn2 ataxin 2|The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]
atxn3 ataxin 3|Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]
atxn3depleted
atxn7 ataxin 7|The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
atxn7l3 ataxin 7-like 3|
atxn7l3b ataxin 7-like 3B|
atxn8
atxn8os
atype
atypia
atypic
atypical
atypicality
atypically
atypicalsuspicious
atz
atzdependent
aua
aubps
auc
auc0infinity
aud
audiogenic
audiogram
audiologic
audiological
audiometric
auditory
auds
auf1
auf1containing
aug
augment
augmentation
augmented
augmenter
augmenting
augments
augmin
auml
aunps
aup1 ancient ubiquitous protein 1|The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
aup1ube2g2
aupd
aupregulated
aur
aura
auramediated
auratpx2
auraunphosphorylatable
aurb
aureus
aureusinduced
aureusplatelet
aurich
auriculocondylar
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]
aurkab
aurkagsk3beta
aurkahdac6dependent
aurkaip1 aurora kinase A interacting protein 1|
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]
aurora
auroraa
auroraabora
auroraag198n
auroraageminincdt1
auroraamediated
auroraapositive
auroraarap1a
aurorab
aurorac
auroras
australasian
australia
australian
australians
austria
austrian
authentic
authenticate
author
authors
authros
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.
autismassociated
autismcausing
autismepilepsy
autismrelated
autismspectrum
autistic
auto
autoabs
autoacetylation
autoactivated
autoactivation
autoaggressive
autoamplification
autoantibodies
autoantibody
autoantibodyassociated
autoantibodyil8
autoantibodymediated
autoantibodynegative
autoantibodypositive
autoantigen
autoantigenic
autoantigens
autocatalytic
autocatalytically
autochthonous
autocleavage
autocrine
autocrinejuxtacrine
autocrineparacrine
autodegradation
autoepitope
autofat10ylated
autofluorescence
autograft
autografts
autohsct
autoimmune
autoimmuneassociated
autoimmunelymphoproliferative
autoimmunemediated
autoimmuneprone
autoimmunerelated
autoimmunity
autoimmunityassociated
autoimmunitylymphoproliferation
autoimmunitypositive
autoimmunological
autoinduction
autoinductive
autoinflammation
autoinflammatory
autoinhibited
autoinhibition
autoinhibitory
autointegration
autoisgylation
autologous
autolysis The spontaneous death by lysis of bacteria in response to environmental conditions.
autolysosome A type of secondary lysosome in which a primary lysosome has fused with the outer membrane of an autophagosome. It is involved in the second step of autophagy in which it degrades contents with acidic lysosomal hydrolases.
autolysosomes
autolytic
automatable
automated
automatic
automatically
automaticity
automethylation
automimmune
automobile
automodification
automodifying
autonomic
autonomicfunction
autonomous
autonomously
autonomy
autoparacrine
autophagic
autophagiclysosomal
autophagicrelated
autophagocytosis
autophagosomal
autophagosome A double-membrane-bounded compartment in which endogenous cellular material is sequestered; known as autophagosome in yeast.
autophagosomebinding
autophagosomelysosome
autophagosomes
autophagy The process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
autophagyassociated
autophagydeficient
autophagydependent
autophagyeradii
autophagyindependent
autophagyinducing
autophagyinhibitory
autophagyinitiating
autophagylysosomal
autophagylysosome
autophagymediated
autophagymultivesicular
autophagyrelated
autophagyspecific
autophagystimulatory
autophagyunrelated
autophosphorylated
autophosphorylates
autophosphorylation
autophosphorylationactivation
autophosphorylationdependent
autophosphorylations
autoprocessing
autoproteolysis
autoproteolytic
autopsied
autopsy
autopsyconfirmed
autopsyproven
autoptic
autoreactive
autoreactivity
autoreceptor
autoreceptors
autoregulate
autoregulated
autoregulates
autoregulation
autoregulationcrossregulation
autoregulatory
autorepression
autorepressive
autosomal
autosomaldominant
autosomalrecessive
autosomatic
autosomic
autostimulation
autosumoylated
autotaxin
autotaxininduced
autoubiquitination
autoubiquitinationindependent
autoubiquitylation
autozygome
autozygosity
auts1auts5
autumn
auucu
auuua
auuuafree
auxiliary
auxilin
auxilin1
auxotrophy
ava
avaii
availabilities
availability
available
avascular
avb3
avb6
avbeta6tgfbeta
avellino
aven apoptosis, caspase activation inhibitor|
avenue
avenues
average
averagerisk
averaging
aversion
aversive
avert
averts
avf
avian
avic
avics
avid
avidity
avidityimproved
avidly
aviremic
avium
aviumhiv1
avl
avm
avms
avoid
avoidance
avoidant
avoided
avoiding
avoids
avp arginine vasopressin|This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin 2 and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). [provided by RefSeq, Mar 2010]
avpr1a arginine vasopressin receptor 1A|The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]
avpr1b arginine vasopressin receptor 1B|The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008]
avpr2 arginine vasopressin receptor 2|This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]
avr
avs
avsd
avulsed
avvv
await
awaited
awaiting
awaits
awake
awakening
aware
awareness
awas
awat1
awat2
away
awry
aws
axenfeldrieger
axes
axesinduced
axh
axial
axii
axiiaxiir
axiir
axilla
axillary
axillarynode
axin
axin1 axin 1|This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]
axin1pdia2
axin2 axin 2|The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]
axin2gsk3betasnail1
axin2tgfa
axinbinding
axinck1alpha
axininduced
axinmediated
axis The main trunk of a plant; specifically: a primary plant axis that develops buds and shoots instead of roots.
axisderived
axisreview
axl AXL receptor tyrosine kinase|The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
axldependent
axlgas6
axlmapk
axlnegative
axlpositive
axlsignaling
axltargeted
axltyro3dcsign
axoglial
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
axonal
axonemal
axonemes
axonglial
axonogenesis De novo generation of a long process of a neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells. Refers to the morphogenesis or creation of shape or form of the developing axon.
axonopathy
axons
axonsreview
axotomy
axud1
ayloid
aystemic
az1
az95176
aza
aza6mp
azacitidine
azacytidine
azadc
azadirone
azar
azathioprine A thiopurine that is 6-mercaptopurine in which the mercapto hydrogen is replaced by a 1-methyl-4-nitroimidazol-5-yl group. It is a prodrug for mercaptopurine and is used as an immunosuppressant, prescribed for the treatment of inflammatory conditions and after organ transplantation and also for treatment of Crohn's didease and MS.
azc
azd1152
azd6244
azd7545
azd8055
azeri
azf
azfbp4
azfc
azgp1 alpha-2-glycoprotein 1, zinc-binding|
azi
azide Any nitrogen molecular entity containing the group -N3.
azin1 antizyme inhibitor 1|The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]
azin2
azipm
azithromycin A macrolide antibiotic useful for the treatment of bacterial infections.
azole
azoospermia A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
azoospermialike
azoospermianoa
azoospermiaoligospermia
azoospermic
azoreans
azotemia An increased concentration of nitrogen compounds in the blood.
azt
azu1 azurocidin 1|Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. The protein encoded by this gene is an azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Dec 2014]
azurin
azurophil
azurophilic
azx100
b070201
b08
b08011517
b0at
b0at1
b0at2sbat1
b10
b100
b12
b1223
b12dependent
b13
b1517
b1647
b16f1
b16f10
b16f2
b17
b18r
b19
b19v
b1ar
b1associated
b1b1
b1b2
b1cb2
b1cdc2
b1cdk1
b1cdk1mediated
b1dependent
b1faksrcmediated
b1integrin
b1kb2
b1mediated
b1r
b1rdependent
b1rinduced
b1rs
b1yb2
b220
b23
b23nucleophosmin
b25
b27
b270505
b27positive
b29
b2a2
b2ar
b2ars
b2b2
b2b3
b2ephb4
b2g1
b2m beta-2-microglobulin|This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
b2p100
b2plectin
b2r
b2ris
b302
b302spry
b35
b3541
b3906
b3a2
b3b4
b3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2|This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
b3gat1 beta-1,3-glucuronyltransferase 1|The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
b3gnt1
b3induced
b4002
b42c17
b44
b48
b4galnt2
b4galt
b4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1|This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]
b4galt3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3|This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
b4galt5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5|This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
b54
b55
b558
b55alpha
b56
b561
b56alpha
b56alphamediated
b56containing
b56delta
b56e
b56gamma
b56gamma1
b56gamma2
b56gamma3
b56gammapp2a
b56gammaprotein
b5703
b58
b5802
b5p450
b5rm
b6restricted
b71
b71b72
b72
b731leu11c
b7cd28
b7cd28ctla4
b7dc
b7dependent
b7h
b7h1
b7h1expressing
b7h2
b7h3
b7h4
b7h5
b7h6
b7h67d8
b7hicos
b7t
b8dr3dq2
b9d1 B9 protein domain 1|This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011]
b9l
ba1
ba2
ba46
baalc brain and acute leukemia, cytoplasmic|This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]
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]
baat1
babies
baboon
baboons
baby
bac A carcinoma thought to be derived from epithelium of terminal bronchioles, in which the neoplastic tissue extends along the alveolar walls and grows in small masses within the alveoli. Involvement may be uniformly diffuse and massive, or nodular, or lobular. The neoplastic cells are cuboidal or columnar and form papillary structures. Mucin may be demonstrated in some of the cells and in the material in the alveoli, which also includes denuded cells. Metastases in regional lymph nodes, and in even more distant sites, are known to occur, but are infrequent. (From Stedman, 25th ed)|A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion.
bace
bace1 beta-site APP-cleaving enzyme 1|Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
bace1gpi
bace1interacting
bace1mediated
bace1processing
bace2 beta-site APP-cleaving enzyme 2|This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
bacel
bacemediated
bach1 BTB and CNC homology 1, basic leucine zipper transcription factor 1|This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]
bach1dependent
bach1fancj
bach2 BTB and CNC homology 1, basic leucine zipper transcription factor 2|
bacilli
bacillus
back
backbone
backbones
backcrossed
background
backgrounds
backgroundsa
backness
backregulation
backup
backupnonhomologous
backward
bacs
bacteraemia
bacteremia An infection that has as part bacteria located in the blood.
bacteria
bacteriabinding
bacteriacontaining
bacteriaderived
bacteriaengaged
bacteriainduced
bacteriainfected
bacterial
bacterialderived
bacterialinduced
bacterially
bacteriatriggered
bactericidal
bacteriocidal
bacteriophage
bacteriostatic
bacterium
bacteriuminduced
bacteriuria A urinary system disease which consists of the presence of bacteria in urine.
bacteroides
baculoviral
baculovirus
baculovirusinfected
baculovirusinsect
bacute
bad BCL2-associated agonist of cell death|The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008]
badaga
badbcl2
badhypophosphorylation
badlike
badmediated
bads
badser112
baec
baf
baf155
baf155170
baf155mediated
baf170
baf180
baf250
baf250a
baf3
baf53
baf57
baf60c
baf60csix4
bafa1sensitive
baff
baffapril
baffbaffr
baffbaffrdependent
baffblys
baffcxcl12
baffmediated
baffmedicated
baffmodified
baffr
baffreceptor
baffrmediated
baffsystem
bag1 BCL2-associated athanogene|The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010]
bag1l
bag1m
bag1mmediated
bag1s
bag2 BCL2-associated athanogene 2|BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
bag3 BCL2-associated athanogene 3|BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
bag3hspb8
bag3mediated
bag4 BCL2-associated athanogene 4|The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
bag5 BCL2-associated athanogene 5|The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
bag6 BCL2-associated athanogene 6|This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
bag6686936
bag6associated
bag6bat3scythe
bag6sgta
bag6ubl4atrc35
bahamas
bahrain
bahraini
bahrainis
bai
bai1
bai2
bai3
baicalein A trihydroxyflavone with the hydroxy groups at positions C-5, -6 and -7.
baicalin The glycosyloxyflavone which is the 7-O-glucuronide of baicalein.
baicalininduced
bais
bait
baixo
baja
bak
bak1 BCL2-antagonist/killer 1|The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]
bakbax
bakdeltac21
bakderived
bakmediated
bakt
bal
bal1
bal1bbap
bal2
bal3
balance
balanced
balances
balancing
balbc BALB/c is a mouse strain of albion mice.
bald
balding
baldness
balf
balf5
balkan
ball A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia). When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003
balloon
ballooninjured
balm1
balm3
balp
balpha
balpha1
baluchi
bam
bam32
bambi BMP and activin membrane-bound inhibitor|This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]
bamh
bamhi
bamhie111a
bancroftian
band
banded
banding
bands
bandshift
banf1 barrier to autointegration factor 1|The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]
bangladesh
bangladeshi
bani
bank
bank1 B-cell scaffold protein with ankyrin repeats 1|The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
banked
banks
bantu
bap
bap1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)|This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
bap15
bap1brafv600e
bap1mutant
bap31
bap31interacting
bapde
bapinduced
bapo
bapolipoprotein
bar
baraitserwinter
barbadian
barbados
barbed
barcelona
barchytherapy
barcode
bard
bard1 BRCA1 associated RING domain 1|This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
bard1brca1
bardetbiedl
bardetbiedle
bardomain
bare
baregulated
barely
barentsz
barf1
bariatric
bark The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm.
barkor
barkoratg14l
barobiotrauma
baroreflex
barph
barr
barreett
barrel
barrets
barrett
barretts
barrettsassociated
barrier
barrierdisruptive
barrierforming
barrierprotective
barrierregulatory
barriers
barrierspecific
barriertoautointegration
barrters
bart
bartonella
barts
bartter
bartters
barttersgitelmans
barttin
barx1 BARX homeobox 1|This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]
barx2 BARX homeobox 2|This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]
basal Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia.
basalcell
basalderived
basalintermediate
basalioma
basalis
basallike
basally
basaloid
basaltype
base
basebase
based
baseexcision
baseline
basement
basepair
basepairing Interacting selectively and non-covalently with nucleic acid via hydrogen bonds between the bases of a gene product molecule and the bases of a target nucleic acid molecule.
bases
bashkirs
bashkorstan
bashkortostan
basic
basically
basichelixloophelix
basicity
basigin
basilar
basiliximab
basin
basing
basis
basket
basketball
basolateral
basolaterally
basomedial
basonuclin
basophil Mammalian granulocyte with large heterochromatic basophilic granules that contain histamine bound to a protein and heparin-like mucopolysaccharide matrix. They are not phagocytic. Very similar to mast cells though it is not clear whether they have common lineage.
basophilactivation The change in morphology and behavior of a basophil resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the basophil has specifically bound via IgE bound to Fc-epsilonRI receptors.
basophilic
basophils
basp1 brain abundant, membrane attached signal protein 1|This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]
basp1prohibitin
basque
basques
bassoon
bat
bat1
bat2
bat25
bat26
bat3
bat3dependent
bat5
batf basic leucine zipper transcription factor, ATF-like|The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008]
batfirf4spi1runx3
bath
bathing
batimastat
batten
battery
battle
battles
baumannii
bav
bavm
bax BCL2-associated X protein|The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]
baxbak
baxbakdependent
baxbakindependent
baxbakmediated
baxbcl2
baxbclxl
baxcytochrome
baxdeficient
baxdependent
baxdriven
baxgfp
baximmunopositive
baxindependent
baxinduced
baxinteracting
baxmediated
baxpermeabilizing
baxproficient
baxsmac
baxtruncated
baxvdac1
bay
bayesian
bazf
bb0172
bbap
bbb
bbbcht
bbc3 BCL2 binding component 3|This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
bbc3mediated
bbck
bbcrasp2
bbd
bbenefit
bbeta
bbeta148ct
bbetachain
bbf2h7
bbf2h7mediated
bbinding
bblf23
bbox
bbs
bbs1 Bardet-Biedl syndrome 1|Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
bbs10 Bardet-Biedl syndrome 10|This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
bbs11
bbs12 Bardet-Biedl syndrome 12|The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
bbs2 Bardet-Biedl syndrome 2|This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
bbs4 Bardet-Biedl syndrome 4|This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Oct 2014]
bbs6
bbs7 Bardet-Biedl syndrome 7|This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
bbs9 Bardet-Biedl syndrome 9|This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
bbsome A protein complex that associates with the primary cilium and is involved in cilium biogenesis; consists of seven conserved proteins: BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9.
bc3
bca
bca2
bcam basal cell adhesion molecule (Lutheran blood group)|This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
bcamlulaminin
bcan brevican|This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
bcap
bcap37
bcar1 breast cancer anti-estrogen resistance 1|BCAR1, or CAS, is an Src (MIM 190090) family kinase substrate involved in various cellular events, including migration, survival, transformation, and invasion (Sawada et al., 2006 [PubMed 17129785]).[supplied by OMIM, May 2009]
bcar1cfdp1tmem170a
bcar1p130cas
bcar3 breast cancer anti-estrogen resistance 3|Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
bcar3p130cas
bcar4
bcas2 breast carcinoma amplified sequence 2|
bcas2mediated
bcas3 breast carcinoma amplified sequence 3|
bcat
bcat1 branched chain amino-acid transaminase 1, cytosolic|This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
bcatc
bcatenin
bcatenins
bcatm
bcc
bccd
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]
bccipalpha
bccipdependent
bccm
bccs
bcd
bcdc2
bcdin3d BCDIN3 domain containing|
bcdk1
bcell
bcellactivating
bcellassociated
bcellderived
bcelllike
bcelllymphoma2
bcellrestricted
bcells
bcellspecific
bcg
bcgactivated
bcginduced
bcginfected
bcgvaccinated
bch
bchain
bchaindomain
bchains
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]
bchek
bchronic
bcie
bckdha branched chain keto acid dehydrogenase E1, alpha polypeptide|The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
bckdhb branched chain keto acid dehydrogenase E1, beta polypeptide|Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]
bckdk branched chain ketoacid dehydrogenase kinase|The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
bcl
bcl1
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]
bcl10dependent
bcl10malt1traf6tak1
bcl10mediated
bcl10nfkappab
bcl10nfkappabinterleukin8
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]
bcl11axl
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]
bcl2 B-cell CLL/lymphoma 2|This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq, Jul 2008]
bcl2a1 BCL2-related protein A1|This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
bcl2adenovirus
bcl2antagonistkiller
bcl2associated
bcl2bad
bcl2bax
bcl2bcl6
bcl2bclxl
bcl2binding
bcl2dependent
bcl2expression
bcl2family
bcl2igh
bcl2immunostaining
bcl2induced
bcl2jh
bcl2l1 BCL2-like 1|The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. [provided by RefSeq, Jul 2008]
bcl2l11 BCL2-like 11 (apoptosis facilitator)|The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]
bcl2l12 BCL2-like 12 (proline rich)|This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
bcl2l12a
bcl2l12induced
bcl2l13 BCL2-like 13 (apoptosis facilitator)|This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
bcl2l14 BCL2-like 14 (apoptosis facilitator)|The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]
bcl2l2
bcl2like
bcl2mediated
bcl2modulated
bcl2negative
bcl2overexpressed
bcl2p53
bcl2positive
bcl2rearranged
bcl2regulated
bcl2related
bcl2s
bcl2sensitive
bcl2suppressible
bcl2topo2
bcl2translocations
bcl2triggered
bcl2vegf
bcl2xl
bcl3 B-cell CLL/lymphoma 3|This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]
bcl3dependent
bcl3p50
bcl3regulated
bcl6 B-cell CLL/lymphoma 6|The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
bcl6bcorsirt1
bcl6cxcr5
bcl6dependent
bcl6low
bcl6mediated
bcl6transfected
bcl6translocations
bcl6weakmum1
bcl7a B-cell CLL/lymphoma 7A|This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
bcl9 B-cell CLL/lymphoma 9|BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]
bcl92
bcl92b9l
bcl9betacatenin
bcl9legless
bcl9ltcell
bclaf1 BCL2-associated transcription factor 1|This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
bclb
bcleaved
bclg
bclgl
bclgs
bcli
bcll
bclls
bclrambo
bclw
bclwinduced
bclx
bclxbax
bclxl
bclxlbax
bclxlbaxmediated
bclxlbcl2
bclxlbim
bclxlinduced
bclxlinduction
bclxlmediated
bclxlp53
bclxltargeting
bclxlwith
bclxs
bcm
bcma
bcmo1
bcnu
bco1
bco2 beta-carotene oxygenase 2|This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
bcontaining
bcor BCL6 corepressor|The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]
bcorccnb3
bcorl1 BCL6 corepressor-like 1|The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
bcorrara
bcpall
bcr breakpoint cluster region|A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
bcr1
bcr3
bcra1
bcrabl
bcrabl1
bcrabl1induced
bcrabl1like
bcrabl1negative
bcrabl1positive
bcrabldelexon7
bcrabldependent
bcrablexpressing
bcrablinduced
bcrablmediated
bcrablnegative
bcrablpositive
bcrablraserk
bcrablregulated
bcrablstat5irf8
bcrablt315i
bcrablt315ipositive
bcrabltransformed
bcrablvecadherinbetacatenin
bcrably177
bcrcontrolled
bcrebpgc1alpha
bcrinduced
bcrjak2
bcrlike
bcrmediated
bcrp
bcrp1
bcrp1abcg2
bcrpabcg2
bcrpr482
bcrsignal
bcrsignaling
bcrtcf1
bcrtriggered
bcrystallin
bcrystallinmediated
bcs
bcs1l BC1 (ubiquinol-cytochrome c reductase) synthesis-like|This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012]
bcsc1
bcscs
bcsg1
bcss
bct
bcystatin
bd1
bd2
bd2may
bd3
bda1
bdc25
bdca1
bdca2
bdca3
bdecs
bdefensin4
bdeficient
bdependent
bdh1 3-hydroxybutyrate dehydrogenase, type 1|This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
bdh2 3-hydroxybutyrate dehydrogenase, type 2|
bdi
bdim
bdkrb
bdkrb2 bradykinin receptor B2|This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. [provided by RefSeq, Jul 2008]
bdn
bdna
bdnf brain-derived neurotrophic factor|The protein encoded by this gene is a member of the nerve growth factor family. It is induced by cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jan 2009]
bdnfaktbcl2
bdnfinduced
bdnfmediated
bdnfrelated
bdnfstimulated
bdnftotrkb
bdnftrkb
bdnftrkberk12
bdnftyrosine
bdnfval66metxapoexage
bdnfval66metxapoexhba1c
bdnfvariant
bdomain
bdomains
bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB|The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]
bdpcs
bdrb1
bea
beach
beacons
bead
beads
beam
beamline
beams
bean
bear
bearing
bears
beas2b
beat
beating
beats
beaujolais
beauty
bec
became
because
beck
becker
beckwithwiedemann
beclin
beclin1
beclin1binding
beclin1independent
beclin1mediated
beclin1pi3kmediated
becn1 beclin 1, autophagy related|Beclin-1 participates in the regulation of autophagy and has an important role in development, tumorigenesis, and neurodegeneration (Zhong et al., 2009 [PubMed 19270693]).[supplied by OMIM, Jul 2010]
becn1beclin
become
becomes
becoming
becs
bed
bednar
bedouin
bedrest
beds
bedside
bee
beef
been
beer
before
beforeduring
began
begin
beginning
begins
begun
behave
behaved
behaves
behaving
behavior The internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.
behavioral
behaviorally
behaviorhuman
behaviors
behaviour The internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.
behavioural
behaviours
behcet
behcets
behind
beige
beijing
being
beings
bel
bel1
bel5fu
bel7402
bel74025fluorouracil
bel74025fu
bel7404
belarus
belarusian
belatacept
belemene
belgian
belgians
belgium
belief
beliefs
believe
believed
belinostat A hydroxamic acid-type histone deacetylase (HDAC) inhibitor with antineoplastic activity.
bells
bellshaped
belong
belonged
belonging
belongs
below
belowknee
belowmedian
belt
ben
benazepril A benzazepine that has formula C24H28N2O5.
benc511
benchmarks
bend
bending
bendingtwisting
bends
bene
beneath
beneficial
beneficially
benefit
benefited
benefiting
benefits
bengal
bengalee
bengali
benificial
benign For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health.
benignpleural
benin
beninese
benspm
bent
benzalkonium
benzamidine A carboxamidine that is benzene carrying an amidino group.
benzbromarone
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.
benzeneexposed
benzeneinduced
benzidine A biphenyl that has formula C12H12N2.
benzimidazole A mancude organic heterobicyclic parent that is a heterocyclic organic compound comprising fused benzene and imidazole rings.
benzimidazoles1
benzo
benzoapyrene
benzoapyreneaccelerated
benzoapyreneinduced
benzoate
benzocphenanthrene
benzodiazepine A group of two-ring heterocyclic compounds consisting of a benzene ring fused to a diazepine ring.
benzodiazepinone
benzofuran
benzoic
benzokfluoranthene
benzyl
benzylbenzamide
benzylguanine
benzyloxycarbonylvad
bepotastine
ber In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase.
berardinelliseip
berbamine An isoquinoline that has formula C37H40N2O6.
berberine
berberineinduced
berberines
berbers
berep4
bergmann
bernardsoulier
berp
berry A simple fruit (as a currant, grape, tomato, or banana) with a pulpy or fleshy pericarp.
beryllium
berylliumresponsive
beside
besides
bespeaks
best
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]
best2
best4
bestcharacterized
bestowed
bestows
bestpairing
bestrophin
bestrophins
bet
bet3tpc6b
beta
beta0thalassemia
beta1
beta10
beta1186270gamma1
beta1191619
beta12nacetlyglucosaminyltransferase
beta12nacetylglucosaminyltransferase
beta130
beta13exoglucanase
beta13galactosyltransferase
beta13glucuronosyltransferases
beta140
beta142
beta14galactosyltransferase
beta14galt
beta14galti
beta14gt1
beta14linkage
beta14nacetylgalactosaminyl
beta14nacetylglucosaminyltransferase
beta15a
beta16
beta16branched
beta16branches
beta16glcnac
beta16nglucosaminyltransferase
beta1a
beta1adrenergic
beta1adrenoceptor Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of beta1-adrenergic receptors.
beta1ar
beta1arg389
beta1arinduced
beta1arlike
beta1armediated
beta1b
beta1beta2
beta1dependent
beta1egfrrac1dependent
beta1epsilon
beta1erk12mmp2
beta1fak
beta1focal
beta1gamma2
beta1gly389arg
beta1ibeta5i
beta1igfir
beta1induced
beta1integrin
beta1integrindependent
beta1integrininteracting
beta1integrinligand
beta1integrinmediated
beta1integrinrelated
beta1integrins
beta1laminins
beta1mediated
beta1ogalactosyltransferases
beta1pix
beta1receptor
beta1signaling
beta1subunit
beta1subunitdependent
beta1subunitindependent
beta1syntrophin
beta2
beta23
beta26b8glulys
beta2adaptin
beta2adrenergic
beta2adrenoceptor Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of beta2-adrenergic receptors.
beta2adrenoceptors
beta2agonist
beta2agonists
beta2ar
beta2arcgrpr
beta2arinduced
beta2armediated
beta2ars
beta2asp163
beta2beta3
beta2beta3negative
beta2c
beta2chimaerin
beta2dependent
beta2glycoprotein
beta2gp1
beta2gpi
beta2gpidependent
beta2gpilpa
beta2i
beta2idomain
beta2integrin
beta2integrindependent
beta2integrins
beta2laminins
beta2m
beta2mg
beta2microglobulin
beta2microglobulinfree
beta2microglogulintati
beta2nachrs
beta2sp
beta2spectrin
beta2syntrophin
beta2tryptase
beta2tubulin
beta3
beta35
beta3adrenergic
beta3adrenoceptor Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of beta3-adrenergic receptors.
beta3adrenoceptors
beta3adrenoreceptor
beta3ar
beta3beta2
beta3beta3
beta3dependent
beta3endonexin
beta3galt4
beta3galt5
beta3gamma2
beta3gnt1
beta3gnt2
beta3gnt7
beta3gnt8
beta3gntl1
beta3integrin
beta3lncap
beta3mediated
beta3met227
beta3strand
beta3subunit
beta3tail
beta4
beta42
beta4associated
beta4beta5
beta4c
beta4dependent
beta4galnact3
beta4galnact4
beta4galt1
beta4galt4
beta4galt7
beta4integrin
beta4mediated
beta4nachrs
beta5
beta511
beta5i
beta5t
beta6
beta6a3gluval
beta7
beta7c494c526
beta7integrinindependent
beta8
beta8strand
betaa
betaa3a1crystallin
betaa3crystallin
betaabeta
betaacc2
betaact
betaactin
betaactinarp4
betaactininvolved
betaactintric
betaactivated
betaadaptins
betaadducin
betaadrenergic
betaadrenoceptor Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of beta-adrenergic receptors; the activity involves transmitting the signal to the Gs alpha subunit of a heterotrimeric G protein.
betaadrenoceptormediated
betaadrenoceptors
betaadrenoreceptor
betaaggregation
betaagonist
betaagonists
betaalanine
betaalpha
betaamyloid
betaamyloid140
betaamyloid142
betaamyloid42
betaamyloidassociated
betaamyrin
betaapo14carotenal
betaapp
betaar
betaark1associated
betaarr
betaarr1
betaarr2
betaarrestin
betaarrestin1
betaarrestin1dependent
betaarrestin1jnk
betaarrestin2
betaarrestin2dependent
betaarrestin2mediated
betaarrestinassociated
betaarrestinbiased
betaarrestindependent
betaarrestinmediated
betaarrestins
betaarrestins1
betaarrestinscaffolded
betaarretin
betaarrs
betaars
betaasp99
betaassociated
betab
betab1
betab1crystallin
betab1crystallins
betab2
betab2crystallin
betabarrel
betabinding
betablockade
betablocker
betablockers
betabone
betabsubunit
betabulge
betac
betacarbon
betacardiac
betacargo
betacarotene
betacasein
betacat
betacatenin
betacatenina
betacateninactivated
betacateninactive
betacateninassociated
betacateninbcl9like
betacateninbinding Interacting selectively and non-covalently with the beta subunit of the catenin complex.
betacatenincmyc
betacatenindegrading
betacatenindependent
betacateninecadherin
betacateningsk3beta
betacateninhur
betacateninindependent
betacatenininteracting
betacateninlef1
betacateninlinked
betacateninmediated
betacateninp300
betacateninregulated
betacateninresponsive
betacateninret
betacatenins
betacateninsignaling
betacatenint
betacatenintcell
betacatenintcellfactordependent
betacatenintcf
betacatenintcf1
betacatenintcf4
betacatenintcf4dependent
betacatenintcf4mediated
betacatenintcf4survivin
betacatenintcf7l2
betacatenintcfactivated
betacatenintcfbound
betacatenintcfdependent
betacatenintcflef
betacatenintcflef1
betacatenintcflefdependent
betacatenintcfmediated
betacatenintcfs
betacatenintriggered
betacateninwnt
betacattcf4
betacell
betacellenriched
betacelllike
betacells
betacellspecific
betacellulin
betacellulinmediated
betacfamily
betachain
betachains
betachemokines
betacki
betacleavage
betacomponent
betacop
betacr
betacryptoxanthin
betacrystallin
betacrystallins
betactx
betacya
betacyclodextrin
betacytoplasmic
betadefensin
betadefensin1
betadefensin2
betadefensin3
betadefensins
betadefensins1
betadelta
betadeltacore
betadependent
betadna
betadomain
betadystrobrevin
betadystroglycan
betae
betaenac
betaendorphin
betaenin
betaenos
betaestradiol
betaesubunits
betaexon
betaf1
betaf1atpase
betafak
betafibrinogen
betaform
betafoxa2
betagadd45
betagal
betagalactose
betagalactosidase
betagalactoside
betagamma
betagene
betaglobin
betaglucan
betaglucanbearing
betaglucans
betaglucocerebrosidase
betaglucosidase
betaglucuronidase
betaglycan
betagoblin
betagt3
betagt4
betahairpin
betahb
betahcg
betahelical
betahelix
betahematin
betahemoglobin
betahemoglobinopathy
betahexosaminidase
betahexosaminidases
betahnenac
betahpv
betahsd
betahsd1
betahsd2
betahydroxybetamethylbutyrate
betahydroxybetamethylbutyratefree
betahydroxylase
betahydroxysteroid
betai
betaigh3
betaii
betaiii
betaiiit
betaiiitubulin
betaiitubulin
betail3
betaindependent
betainduced
betaine
betainehomocysteine
betaintegrin
betaintegrinindependent
betainterferon
betaisotypes
betajak3stat5b
betaketoacyl
betaklotho
betaklothoindependent
betalactam
betalactams
betalapachone
betalike
betamediated
betamelanocortin
betamethylaminolalanine
betamicroseminoprotein
betamkk7
betamodulatory
betamrna
betamsh
betamshmc4r
betamutationderived
betamyhc
betamyosin
betanacetyldglucosaminidase
betanacetylglucosamine
betanad
betanaphthoflavone
betaneurexin
betanfkappab
betangf
betaoestradioldependent
betaoligomers
betaoxidation
betaparvin
betapde
betapdgfr
betapeptide
betapeptides
betapix
betapixs
betapixwaspspin90
betaplus
betapol
betapromoter
betapropeller
betaprotein
betaprotein142
betaproteininduced
betaprotryptases
betarangtp
betareceptor
betareceptors
betaregulated
betaretinoid
betarich
betas
betasandwich
betasarcoglycan
betasbetathal
betase
betasecretase
betasecretase1
betasecretases
betaselection The process in which successful recombination of a T cell receptor beta chain into a translatable protein coding sequence leads to rescue from apoptosis and subsequent proliferation of an immature T cell.
betasglobules
betasheet
betasheetamyloidprone
betasheetrich
betasheets
betasite
betasites
betasitosterol
betasmmhc
betaspectrin
betastrand
betastrands
betastrandturnbetastrand
betastructure
betasubunit
betasubunits
betasyn
betasynemin
betasynthase
betasynuclein
betatail
betataxilin
betatcpthe
betatectorin
betatg
betatglike
betathal
betathalassaemia
betathalassaemic
betathalassemia
betathalassemic
betathromboglobulin
betathymosins
betatm
betatp
betatrace
betatransducin
betatrcp
betatrcp1
betatrcp1mediated
betatrcp2
betatrcpcontaining
betatrcpdependent
betatrcpdriven
betatrcpmediated
betatrcprest
betatrcps
betatrcpscf
betatrefoil
betatropomyosin
betatryptase
betatub
betatubulin
betatubulincctbeta
betatubulinssfluorobenzyl
betaturn
betatype
betaunsaturated
betaxolol A propanolamine that is 3-aminopropane-1,2-diol in which the hydrogen of the primary hydoxy is substituted by a 4-[2-(cyclopropylmethoxy)ethyl]phenyl group and one of the hydrogens attached to the amino group is substituted by isopropyl. It is a selective beta1-receptor blocker and is used in the treatment of glaucoma as well as hypertension, arrhythmias, and coronary heart disease. It is also used to reduce non-fatal cardiac events in patients with heart failure.
betazeta
betel
betelquid
bethesda
bethlem
better
betulinic
betweeen
betweenindividual
betweenstudy
betweenthe
betwwen
bevacizumab
beverage
beverages
beween
bewo
bewteen
bex1 brain expressed, X-linked 1|
bex2 brain expressed X-linked 2|This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
bexarotene
beyond
bezafibrate
bf1
bf3
bfa
bfaadpribose
bfabp
bfar bifunctional apoptosis regulator|
bfbts
bfgf
bfgf2
bfgfbasic
bfgfdependent
bfgfdirected
bfgffgfr1pi3krac1
bfgfinduced
bfgfmediated
bfh
bfic
bfis
bfl1
bfl1a1
bfmtreated
bfnc
bform
bfp60
bfsp1 beaded filament structural protein 1, filensin|This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
bfsp2 beaded filament structural protein 2, phakinin|More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
bft
bfue
bgc823
bgin
bglap bone gamma-carboxyglutamate (gla) protein|
bglf4
bgli
bgliib
bgn biglycan|The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to two other small proteoglycans, decorin and fibromodulin. The encoded protein and decorin are thought to be the result of a gene duplication. Decorin contains one attached glycosaminoglycan chain, while this protein probably contains two chains. For this reason, this protein is called biglycan. This protein plays a role in assembly of collagen fibrils and muscle regeneration. It interacts with several proteins involved in muscular dystrophy, including alpha-dystroglycan, alpha- and gamma-sarcoglycan and collagen VI, and it is critical for the assembly of the dystrophin-associated protein complex. [provided by RefSeq, Nov 2009]
bgp
bgs
bgscs
bgt1
bh1
bh2
bh3
bh3like
bh3m6
bh3only
bh4
bhc
bhc80
bhd
bhec1mps1
bhecets
bhk21
bhkabca1
bhlh
bhlhb2
bhlhb3
bhlhe40 basic helix-loop-helix family, member e40|This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014]
bhlhe41 basic helix-loop-helix family, member e41|This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
bhlhlz
bhlhpas
bhmt betaine--homocysteine S-methyltransferase|This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
bhmt2 betaine--homocysteine S-methyltransferase 2|Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
bholes
bhr
bhrf1
bi1
bia
biaka
biallelic
biallelically
bias
biased
biases
biasing
biaspartic
bibc
bibi
bibp3226
bibr1532
bibw2992
bic
bicalutamide A sulfone that is an oral non-steroidal antiandrogen used in the treatment of prostate cancer and hirsutism.
bicarbonate
bicarbonatecontrolled
bicaudal
bicaudald1
bicd1 bicaudal D homolog 1 (Drosophila)|This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
bicd2 bicaudal D homolog 2 (Drosophila)|This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]
bicd2n
bicd2positive
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.
bicistronic
bicp0
bicuspid
bicyclic123triazoles
bid BH3 interacting domain death agonist|This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
biddependent
bidentate
bidindependent
bidinduced
bidirectional
bidirectionally
bidmediated
bidsilenced
biettis
bif1
bif1dependent
bifaceted
bifid
bifida
bifidobacterium
bifidum
bifunctional
bifurcate
bifurcates
bifurcation
big
big1
big12
big2
big3
big3wrd5phb2
bigene
bigenic
biget
bigger
bigh3
biglycan
bigs
biguanide
biii
biiii
bik BCL2-interacting killer (apoptosis-inducing)|The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011]
bike
bikunin
bilary
bilateral
bilaterality
bilaterally
bilaterian
bilayer
bilayerbound
bilayers
bile A fluid secreted by the liver and poured into the small intestine via the bile ducts. Important constituents are conjugated bile salts, cholesterol, phospholipid, bilirubin diglucuronide, and electrolytes. Bile is alkaline due to its bicarbonate content, is golden brown to greenish yellow in color, and has a bitter taste. Bile secreted by the liver is concentrated in the gallbladder.
bileacid
bileacidstimulated
bileinduced
bilf1
bilharzial
bilharziasis
biliary
biliaryprogenitor
biliopancreatic
bilirubin A member of the class of biladienes that is a linear tetrapyrrole, product of heme degradation. It is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin.
bilirubinmediated
biliverdin A linear tetrapyrrole produced in the reticuloendothelial system by the first step of heme degradation, catalysed by heme oxygenase.
billion
biloba
bilobed
bim
bim1p
bim23a760
bimatoprost
bimdependent
bimel
bimelbclxl
bimelmcl1
biminduced
biml
bimmediated
bimodal
bimodally
bimodular
bimolecular
bims
bimutations
bin1 bridging integrator 1|This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Sep 2011]
bin1ku
binary
binase
bincard
bind
binded
binder
binders
bindin
binding3
bindingautoactivation
bindingchannel
bindingcompetent
bindingdependent
bindingdimerization
bindingegf
bindingindependent
bindinginduced
bindinginternalization
bindingpartners
bindingprotein
bindingrelease
bindings
bindingsite
bindingtransport
bindnig
binds
binduced
binducing
binet
binge
bingeeating binge eating with or without purging
bingeeatingpurging
binging
binuclear
binucleate two nuclei present per cell body when one is expected; often due to failed cytokinesis
binucleated
binucleation
bio
bioactivating
bioactivation
bioactive
bioactivities
bioactivity
bioassay
bioavailability
bioavailable
biochanina
biocharacter
biochemiacl
biochemical
biochemically
biochemistries
biochemistry
bioconversion
biodegradable
biodisposition
biodistribution
bioenergetic
bioenergetics
biofilm A thin usually resistant layer of microorganisms (as bacteria) that form on and coat various surfaces (as of water pipes and catheters).
biofilms
biofunctions
biogenesis
biogenesisrelated
biogenic
bioinformatic
bioinformaticallydirected
bioinformatics
biol
biologcial
biologic
biological
biologicallink
biologically
biologicallyclinically
biology
biologybased
biologyreview
bioluminescence The production of light by certain enzyme-catalyzed reactions in cells.
bioluminescent
biomaker
biomakers
biomarker
biomarkers
biomarks
biomass
biomaterial
biomaterialmodulated
biomechanical
biomechanics
biomedical
biomembrane
biometal
biometric
biomimetic
biomineralization Formation of hard tissues that consist mainly of inorganic compounds, and also contain a small amounts of organic matrices that are believed to play important roles in their formation.
biomolecular
biomolecules
biopathology
biophysical
biophysically
biophysics
bioplar
biopolymer
bioprinted
bioprinting
bioprosthetic
biopsied
biopsies
biopsy
biopsyproven
bioptates
biopterin A pterin derivative that consists of pterin bearing amino, oxo and 1,2-dihydroxypropyl substituents at positions 2, 4 and 6 respectively. The parent of the class of biopterins.
bioreactor
bioreactors
biorientation
bioriented
biosensing
biosensor
biosynthesis 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.
biosynthesized
biosynthesizing
biosynthetic
biotarget
biotherapy
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.
biotinylated
biotinylation
biotransformation
bip
biparental
bipartite
bipcholera
bipdependent
bipgrp78
biphasic
biphenotypic
biphenyl
biphenyls
biphosphate
bipolar
bipolari
bipolarii
bipolarity
bipolarize
bipotent
bipotential
bips
bir
bir2
bir2selective
bir3
bira
birbeck
birc1
birc2 baculoviral IAP repeat containing 2|The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
birc2map3k14
birc3 baculoviral IAP repeat containing 3|This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011]
birc4
birc5 baculoviral IAP repeat containing 5|This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
birc531cc
birc7 baculoviral IAP repeat containing 7|This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]
birch
birds
birdshot
birinapantinduced
birth
birthoggdube
births
birthweight The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
bis
bisans
bisecting
bishydroxamic
bisindolylmaleimide
bisoform
bisoprolol A secondary amine that has formula C18H31NO4.
bispecific
bisphenol
bisphenola
bisphosphate
bisphosphonate
bisphosphonateassociated
bisphosphonaterelated
bisphosphonates
bisphosphorylated
bistable
bisubstrate
bisulfite
bisulfitemodified
bit1
bitargeted
bitc
bite
bitopic
bitransgenic
bitter
bitterness
bittertaste
bitumenexposed
biu87
biv
bivalent
bivalirudin
bivariate
biventricular
biweekly
bizarre
bjab The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line.
bjhcc20a
bkb2
bkb2r
bkbeta1
bkca
bkcachannel
bki
bknobs
bkpyv
bkv
bl21
bl41e95a
bla
blach
black A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.
blackfan
blackfoot
blacks
bladder A membranous sac in animals that serves as the receptacle of a liquid or contains gas.
bladders
bladderspecific
blade
blades
bland
blap75
blap75rmi1
blast
blastema A group of cells that give rise to a new individual, in asexual reproduction, or to an organ or part, in either normal development or in regeneration.
blastemal
blastic
blastocyst The modified blastula of a placental mammal.
blastocystendometrial
blastocystis
blastocysts
blastoid
blastoma A malignant neoplasm composed of undifferentiated cells.
blastphase
blasts
blau
blbc
blbcs
blbp
blca4
blccxcl13
bleaching
bleb A cell extension characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusions.
blebbing
blebbistatin A pyrroloquinoline that is 1,2,3,3a-tetrahydro-H-pyrrolo[2,3-b]quinolin-4-one substituted by a hydroxy group at position 3a, a methyl group at position 6 and a phenyl group at position 1. It acts as an inhibitor of ATPase activity of non-muscle myosin II.
blebs
bleeding
bleedings
bleomycin A glycopeptide antibiotic produced by the bacterium Streptomyces verticillus. The term, 'bleomycin' refers to a family of structurally related compounds. When used as an anti-cancer agent, the chemotherapeutical forms are primarily bleomycin A2 and B2.
bleomycina5
bleomycininduced
bleomycintreated
blepharophimosis
blepharospasm A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
blessed
blh
blhx
blid BH3-like motif containing, cell death inducer|This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011]
blike
blimp1
blind
blindness
blineage
blinkin
blipoprotein
blister
blistering
blk BLK proto-oncogene, Src family tyrosine kinase|This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
blm Bloom syndrome, RecQ helicase-like|The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
blmassociated
blmdeficient
blmp53rad51
blmtop3armi1
blmtopo
blnc1
blnk B-cell linker|This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
bloc
bloc1
bloc1s1 biogenesis of lysosomal organelles complex-1, subunit 1|BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2|This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
bloc2
bloc3
bloc4
block A block or batch is an experimental unit arrangement into a group which is similar to one another. Typically, a blocking factor is a source of variability that is not of primary interest to the experimenter. An example of a blocking factor might be the sex of a patient; by blocking on sex, this source of variability is controlled for, thus leading to greater accuracy.
block1
block70
blockade
blockadeinduced
blockades
blockage
blocked
blocker
blockers
blocking
blocks
blod
blok
blom7alpha
blond
blood 1: The fluid that circulates in the heart, arteries, capillaries, and veins of a vertebrate animal carrying nourishment and oxygen to and bringing away waste products from all parts of the body. 2: A comparable fluid of an invertebrate.
bloodbased
bloodborne
bloodbrain
bloodbrainbarrier
bloodcerebrospinal
bloodcsf
bloodderived
bloodgroup
bloodlymphatic
bloodnerve
bloodpromoting
bloodretinal
bloods
bloodstage
bloodstasis
bloodstream
bloodtestis
bloodtobrain
bloodtumor
bloodvessel
bloom
blooms
bloop
blos1
blot
blots
blotting
blp
blp2
blt
blt1
blt1giopi3kerk
blt1receptor
blt2
blt2mediated
blt2nox1reactive
blt4
blu
blue
bluetongue
blunt
blunted
blunting
blunts
blymphoblast
blymphoblastic
blymphocyte
blymphocytes
blymphoid
blymphoma
blys
blysapril
blysexpression
blzip
bm2
bmal1
bmal1brain
bmal1clock
bmal2
bmal2clock
bmammalian
bmanf1
bmax
bmbc
bmc
bmca
bmcc1
bmd The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.
bmdcs
bmderived
bme
bmec
bmecs
bmediated
bmes
bmf Bcl2 modifying factor|The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
bmfs
bmi An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)
bmi1 BMI1 proto-oncogene, polycomb ring finger|
bmi1aurka
bmi1containing
bmi1mediated
bmi1mel18
bmi1overexpressing
bmi1positive
bmi1ring1b
bmi1silenced
bmi1targeted
bmimatched
bmis
bmk1
bmlv
bmmc
bmmcs
bmmsc
bmmscs
bmnc
bmnsclc
bmoc
bmov
bmp
bmp1 bone morphogenetic protein 1|This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]
bmp10 bone morphogenetic protein 10|The protein encoded by this gene is a member of the TGF-beta family of growth factors. Data suggest that the similar protein in mouse plays an important role in trabeculation of the embryonic heart. In human, this protein may signal through receptor serine/threonine kinases. [provided by RefSeq, Jul 2008]
bmp11
bmp13
bmp14
bmp15 bone morphogenetic protein 15|The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The transforming growth factor-beta superfamily includes large families of growth and differentiation factors. It is thought that this protein may be involved in oocyte maturation and follicular development as a homodimer or by forming heterodimers with a related protein, Gdf9. Defects in this gene are the cause of ovarian dysgenesis 2.[provided by RefSeq, Sep 2009]
bmp1like
bmp2 bone morphogenetic protein 2|The protein encoded by this gene belongs to the transforming growth factor-beta (TGFB) superfamily. The encoded protein acts as a disulfide-linked homodimer and induces bone and cartilage formation. [provided by RefSeq, Jul 2008]
bmp24
bmp26
bmp27
bmp2cbfalpha1
bmp2induced
bmp2k BMP2 inducible kinase|This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
bmp2mediated
bmp2ppargammaapoe
bmp2smad15
bmp2smad6smad7
bmp3 bone morphogenetic protein 3|BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein, also known as osteogenin, induces bone formation. [provided by RefSeq, Jul 2008]
bmp3b
bmp4 bone morphogenetic protein 4|The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. [provided by RefSeq, Jul 2008]
bmp4bmp7
bmp4elicited
bmp4induced
bmp4mediated
bmp4mir302bmprii
bmp4thrombospondin1
bmp4which
bmp4wnt3a
bmp5 bone morphogenetic protein 5|This gene encodes a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. [provided by RefSeq, Jul 2008]
bmp6 bone morphogenetic protein 6|The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008]
bmp67
bmp6ho1
bmp6mediated
bmp7 bone morphogenetic protein 7|The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development and possible bone inductive activity. [provided by RefSeq, Jul 2008]
bmp7induced
bmp9
bmp9alk1
bmp9induced
bmpa
bmpbone
bmpdpp
bmper BMP binding endothelial regulator|This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011]
bmpinduced
bmpmediated
bmpnfkb
bmpr
bmpr1a bone morphogenetic protein receptor, type IA|The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 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. [provided by RefSeq, Jul 2008]
bmpr1amediated
bmpr1b bone morphogenetic protein receptor, type IB|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 2 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. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
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]
bmpr2mediated
bmpreceptor
bmpregulated
bmpresponsive
bmpria
bmprib
bmpribdependent
bmprii
bmprs
bmprspecific
bmps
bmpsignaling
bmpsmad
bmpsmad4
bmpspecific
bms
bms754807
bmsc
bmscderived
bmscs
bmt
bmx BMX non-receptor tyrosine kinase|This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Sep 2009]
bmyb
bmzf2
bmzf3
bn1
bn2
bnc2 basonuclin 2|
bnf
bnhej
bnhl
bnip
bnip1 BCL2/adenovirus E1B 19kDa interacting protein 1|This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]
bnip2 BCL2/adenovirus E1B 19kDa interacting protein 2|This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. [provided by RefSeq, Mar 2011]
bnip3 BCL2/adenovirus E1B 19kDa interacting protein 3|This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]
bnip3induced
bnip3l BCL2/adenovirus E1B 19kDa interacting protein 3-like|This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]
bnip3lnix
bnipl2
bnipxl
bnonhodgkin
bnp
bnpincreased
bnrf1
boat
boat1
bob1
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]
bocavirus
bod1 biorientation of chromosomes in cell division 1|
bodies
bodiesreview
bodily
body
bodylike
bodys
bodyweight The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
bohr
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]
bokmcl1
bola
bola3 bolA family member 3|This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
bolalike
bold
boldineinduced
boll boule-like RNA-binding protein|This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
bolster
bolstering
bolus
bomb
bomb2
bombesin
bombesindependent
bombesininduced
bon
bon1
bona
bonafide
bond
bonding
bonds
bone The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone.
boneassociated
bonecartilage
bonederived
boneenhancer
boneerosive
boneforming
bonelung
bonemarrow
bonemarrowderived
bonemetastatic
bonemineral
bonemorphogenetic
boneosteolysis
boneprotective
boneregeneration The regrowth of bone following its loss or destruction.
bonerelated
boneresorbing
bones The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone.
boneseeking
bonesparing
bonespecific
bonetooth
bonferroni
bonferronicorrected
bonferronis
bonta
bontb
bony
bookmarking
bookmarks
boost
boosted
booster
boosting
boosts
bop1 block of proliferation 1|
bor
bora bora, aurora kinase A activator|BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]
borate
borbera
border
borderassociated
bordering
borderline
borders
bordetella
bore
borealin
borealinhp1
boredom
boris
borisctcf
born
borna
borne
boron
boronic
borrelia
borrelial
borreliosis
borrmann
bortezomib
bortezomibinduced
bortezomibinducing
bortezomibrituximab
bos
bosentan
bosnia
boston
bosutinib
boswellic
bothnia
botrocetinmediated
bottleneck
bottom
bottomup
botulinum
boulardii
boule
bound
boundaries
boundary
bouquetlike
bout
bouton Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal bouton is a specialized region of it.
bouts
bovine
bovis
bovismediated
bowel
bowenoid
bowens
bowl
bowman
bowmans
box
box1
box2
boxassociated
boxbinding
boxdependent
boxes
boxindependent
boxless
boxskp2
boxv
boy
boyd
boyden
boys
bozf1
bp1 Blood pressure QTL 1|
bp180
bp230
bp90k
bpa
bpad
bpag1
bpag1b
bpag1e
bpd
bpde
bpdedna
bpdeinduced
bpdeleted
bpdi
bperforin
bpes
bpgap1
bph A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.|A disease caused by hyperplastic process of non-transformed prostatic cells.|Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.
bph1
bphosphorylated
bpi bactericidal/permeability-increasing protein|This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014]
bpia645g
bpiexpression
bpii
bplf1
bpn
bpositive
bpoz2
bpq
bprecursor
bprisk
bprogenitor
bprolymphocytic
bps
bptes
bpv1
bpy2
bpy22bpy23
bqrelated
bqtc
br3
bra
braak
brachial
brachialankle
brachydactyly A bone development disease characterized by short fingers and toes.
brachyolmia An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
brachytherapy
brachyury
bradycardia A slower than normal heart rate (in adults, slower than 60 beats per minute).
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.
bradykinin2receptor
bradykinininduced
bradykininmediated
bradyopsia
braf B-Raf proto-oncogene, serine/threonine kinase|This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008]
braf35
brafcraf
brafdependent
brafdirected
brafdriven
braferk
brafibased
brafinduced
brafinitiated
brafkiaa1549
brafkras
brafmapk
brafmediated
brafmek
brafmekerk
brafmkkerk
brafmutant
brafmutated
brafnras
brafpositive
brafpv600e
brafv599e
brafv600
brafv600e
brafv600econtaining
brafv600edriven
brafv600einduced
brafv600ek
brafv600emediated
brafve
brafwterk
brag2
brahma
brahmarelated
brahmaswi2related
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.
brainbehavior
brainblood
brainderived
brainenriched
brainexpressed
braininfiltrating
brainmental
brainneuron
brainparenchymal
brainplasma
brainregion
brainreview
brains
brainseeking
brainspecific
brainstem
brainstemcerebellum
brainstems
braintype
brak
brakcxcl14
brake
brakes
branch A natural subdivision of a plant stem; especially: a secondary shoot or stem (as a bough) arising from a main axis (as of a tree).
branched
branchedchain
branches
branchial
branching
branchiooto
branchiootorenal
branchmigration
branchpoint
brap BRCA1 associated protein|The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]
brap2
brasiliensis
brat
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]
bratmediated
brazil
brazilian
brazilians
braziliensis
brazzein
brb
brc
brc4
brca
brca1 breast cancer 1, early onset|This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]
brca11a1b
brca12
brca12deficient
brca12mutated
brca12negative
brca153bp1depleted
brca1a
brca1associated
brca1bach1
brca1bard1
brca1brca2
brca1brct
brca1c4868cgpala1623gly
brca1chk1p53
brca1complex
brca1ctipmediated
brca1defective
brca1deficiency
brca1deficient
brca1deltadelta
brca1deltanp63
brca1dependent
brca1gata3
brca1independent
brca1induced
brca1interacting
brca1iris
brca1ku80
brca1like
brca1mediated
brca1mutant
brca1mutated
brca1mutation
brca1negative
brca1p50
brca1p53
brca1partner
brca1positive
brca1proficient
brca1rap80
brca1related
brca1s
brca2 breast cancer 2, early onset|Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008]
brca2associated
brca2c7988atpglu2663val
brca2deficient
brca2expressing
brca2focus
brca2interacting
brca2linked
brca2mediated
brca2mutated
brca2plectin
brca2rad51
brca2rad51dependent
brca2related
brca2stimulated
brca3
brcaassociated
brcafmr1
brcamutated
brcamutation
brcaness
brcapositive
brcapro
brcaproficient
brcarelated
brcax
brcc
brcc36
brcc36containing
brct
brct1
brct2
brct6
brctx
brd2 bromodomain containing 2|This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]
brd24mediated
brd3 bromodomain containing 3|This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]
brd4 bromodomain containing 4|The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
brd4driven
brd4nut
brd4ptefb
brd7 bromodomain containing 7|This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
brd7mediated
brd8 bromodomain containing 8|The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]
brdim
brdnut
brdt bromodomain, testis-specific|BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
brdu
brduinduced
bre brain and reproductive organ-expressed (TNFRSF1A modulator)|
bre1
bre1ab
bre1abdeficient
breach
breaching
bread
breadth
break
breakage
breakapart
breakdown The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism.
breakdownbetacatenin
breakdsb
breaker
breakfast
breakinduced
breaking
breakpoint
breakpoints
breaks
breakthrough
brease
breasst
breast The fore or ventral part of the body between the neck and the abdomen.
breastcancer Tumors or cancer of the human BREAST.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma that derives_from breast tissue.|Cancer of the human MAMMARY GLAND.|Tumor or cancer of the human MAMMARY GLAND.|A carcinoma that originates from breast tissue.
breastcancerspecific
breastconserving
breastfed
breastfeeding
breastmilk
breastovarian
breastovary
breastpancreas
breastprostate
breasts
breat
breath
breathing The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms.
brec
breech
breeding
brefeldin
breg
bregulated
brek
brel
brelated
brenner
brepressing
breslow
breslows
bresol
brest
bret2
breve
brevican
brf
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]
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]
brfs
brg1
brg1based
brg1brm
brg1containing
brg1dependent
brg1mediated
brg1swisnf
bri2
bri2bace1
bri2itm2b
bri3 brain protein I3|
brib
brichos
bridge
bridged
bridges
bridging
brief
briefly
bright
brightness
brights
bring
bringing
brings
brip1 BRCA1 interacting protein C-terminal helicase 1|The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
brip1fancj
brisk
brit1
britain
brite
british
brittle
brivanib
brk
brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit|
brkelicited
brkinduced
brkmediated
brkproteintyrosine
brkptk6
brkptk6sik
brkstap2mediated
brlf1
brm
brms1 breast cancer metastasis suppressor 1|This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
brms1arid4a
brms1dependent
brms1induced
brms1mediated
brmtype
brn2
brn2mitf
brn3a
brn5
bro1
broad
broadband
broaden
broadened
broadening
broadens
broader
broadest
broadly
broadrange
broadspectrum
broccoli
broccoliderived
brodmanns
broken
bromelain
bromelaintreated
bromide A monoatomic bromine that has formula Br.
bromine
bromo
bromoacetyl
bromocriptine An indole alkaloid that has formula C32H40BrN5O5.
bromodeoxyuridine
bromodomain
bromodomaincontaining
bromodomainphd
bromodomains
bronchi
bronchial
bronchiale
bronchiectasis A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
bronchioalveolar
bronchiolalveolar
bronchiolar
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.
bronchiolitisassociated
bronchioloalveolar
bronchitis A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
bronchoalveolar
bronchoalveolarlavage
bronchoconstriction
bronchodilation
bronchodilator
bronchoepithelial
broncholitis
bronchoprotection
bronchopulmonary
bronchospasm
bronchus Either of the two primary divisions of the trachea that lead respectively into the right and the left lung.
broncoalveolar
brookespiegler
brosarcoma
brosis
broth
brother
brothers
brought
brown
browning
brownlike
brox BRO1 domain and CAAX motif containing|
brp
brpf
brr2
brradykinin
brrf1
brs
brs3
brs3activated
brsk1 BR serine/threonine kinase 1|
brsk12
brsk2 BR serine/threonine kinase 2|
bruce
brucei
brucella
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.
bruchs
bruck
brugada
brugadalike
brugadatype
brush
brushborder Dense covering of microvilli on the apical surface of epithelial cells in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.
brushing
brushings
bruton
brutons
bs69
bs69mediated
bsa
bsac
bsap
bsappax5
bscc
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]
bsdl
bsecretase
bsensitive
bsep
bsepabcb11
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]
bsi
bsm
bsmc
bsmi
bsnd barttin CLCNK-type chloride channel accessory beta subunit|This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
bsnmst1
bsp
bspa
bspry B-box and SPRY domain containing|
bss
bssis
bssl
bst
bst1 bone marrow stromal cell antigen 1|Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]
bst1cd38
bst2 bone marrow stromal cell antigen 2|Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008]
bst2mediated
bst2tetherin
bst2tetherinmediated
bstui
bsx
bsynthase
bt474
bt549
bta
btaf1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa|This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]
btak
btas
btb
btbback
btbd1 BTB (POZ) domain containing 1|The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
btbd12
btbd2 BTB (POZ) domain containing 2|The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]
btbd3 BTB (POZ) domain containing 3|
btbd9 BTB (POZ) domain containing 9|This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
btbkelch
btbpoz
btc betacellulin|The protein encoded by this gene is a member of the EGF family of growth factors. It is synthesized primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic events. This protein is a ligand for the EGF receptor. [provided by RefSeq, Jul 2008]
btcc
btd biotinidase|The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
bteb1klf9
bteb1progesterone
bteb3
bteb4
btf
btf3 basic transcription factor 3|This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [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]
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]
btg2tis21pc3
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]
btg3dependent
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]
btgtob
bthb
bths
btic
bticinitiated
btics
btk Bruton agammaglobulinemia tyrosine kinase|The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
btkdependent
btkinduced
btla B and T lymphocyte associated|This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]
btlahvem
btn1a1 butyrophilin, subfamily 1, member A1|Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
btn2a1 butyrophilin, subfamily 2, member A1|This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
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]
btnl2 butyrophilin-like 2|
btp
btpabtp1
btrc beta-transducin repeat containing E3 ubiquitin protein ligase|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 Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]
btrcp
btreated
bts
btsh
btype
btz
bu40
bub1 BUB1 mitotic checkpoint serine/threonine kinase|This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
bub1b BUB1 mitotic checkpoint serine/threonine kinase B|This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
bub1bpink1
bub1bubr1
bub1mediated
bub3 BUB3 mitotic checkpoint protein|This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
bubble
bubbles
bubr1
bubr1dependent
buc
buccal
buche
buchem
bucindolol
buckwheat
bud Any small part of the embryo or adult metazoon more or less resembling the bud of a plant and presumed to have potential for growth and differentiation.
bud13 BUD13 homolog (S. cerevisiae)|
budd
buddchiari
budded
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.
buddingtsg101
budesonide A glucocorticoid steroid having a highly oxygenated pregna-1,4-diene structure. It is used mainly in the treatment of asthma and non-infectious rhinitis and for treatment and prevention of nasal polyposis.
buds
budsvesicles
buerger
buergers
bufalin A 14beta-hydroxy steroid that is bufan-20,22-dienolide having hydroxy substituents at the 5beta- and 14beta-positions. It has been isolated from the skin of the toad Bufo bufo.
bufalininduced
buffalo
buffer
buffered
buffering
buffers
build
building
buildup
built
builtin
bulb A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves.
bulbar
bulbs
bulemia
bulgarian
bulge
bulged
bulimia An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING.
bulimiaspectrum
bulimic
bulk
bulkier
bulky
bull
bullosa
bullosaassociated
bullous
bullseye
bumetanide A member of the class of benzoic acids that is 4-phenoxybenzoic acid in which the hydrogens ortho to the phenoxy group are substituted by butylamino and sulfamoyl groups. Bumetanide is a diuretic, and is used for treatment of oedema associated with congestive heart failure, hepatic and renal disease.
bundle
bundled
bundles
bundling
bunyamwera
bunyaviridae
buoyant
bupivacaine A racemate composed of equimolar amounts of dextrobupivacaine and levobupivacaine. Used (in the form of its hydrochloride hydrate) as a local anaesthetic.
buprenorphine A morphinane alkaloid that is 7,8-dihydromorphine 6-O-methyl ether in which positions 6 and 14 are joined by a -CH2CH2- bridge, one of the hydrogens of the N-methyl group is substituted by cyclopropyl, and a hydrogen at position 7 is substituted by a 2-hydroxy-3,3-dimethylbutan-2-yl group.
bupropion A propanone that is propan-1-one substituted by a tert-butylamino group at position 2 and a 3-chlorophenyl group at position 1.
bur
burden
burdened
burdens
burgdorferi
burgdorferiinduced
buried
burkholderia
burkina
burkitt
burkitts
burkittslike
burn
burned
burnetii
burning
burns
bursa
bursal
bursitis
burst
bursts
buruli
burundese
buryat
buryatia
bushen
buspirone An azaspiro compound that is 8-azaspiro[4.5]decane-7,9-dione substituted at the nitrogen atom by a 4-(piperazin-1-yl)butyl group which in turn is substituted by a pyrimidin-2-yl group at the nitrogen atom.
buster
busulfan
butadine
butein A chalcone that is (E)-chalcone bearing four additional hydroxy substituents at positions 2', 3, 4 and 4'.
buteintreated
buthionine
butterflyshaped
butyl
butyrate
butyrateinduced
butyratemediated
butyratetreated
butyric
butyricum
butyrophilin
butyrylcholinesterase
butyrylcholinesterasek
bv677278
bv8
bvr
bvra
bvrelated
bw4
bw46
bw4ile80
bw6
bwave
bws
bx471
bx7b
bxdc1
bxpc3 Human pancreatic adenocarcinoma cell line, established from a 61 year old human female.
bypass
bypassed
bypasses
bypassing
byproduct
byproducts
byrsonima
bystander
bz423
bzeta
bzip
bzlf1
bzw
c0602
c0701
c0dose
c10
c100211101113deltaag
c101918g
c1019g
c1019t
c1027
c1048ga
c1049gt
c106
c106a
c106t
c10orf90 chromosome 10 open reading frame 90|
c10orf97
c10x
c11
c1127c
c1135ct
c11374g
c116
c1165cg
c1171ga
c11771178delaa
c1187ga
c118t
c1196ag
c11orf10
c11orf25
c11orf30 chromosome 11 open reading frame 30|
c11orf30lrrc32
c11orf59
c11orf92c11orf93
c11orf95mkl2
c11orf95rela
c12
c12151218dupccga
c1236t
c1243ga
c12491251
c127
c1279ga
c12orf3
c12orf30
c12orf42
c12orf51
c13
c1305
c1344delc
c1351gt
c1363ct
c1377ct
c137ga
c13nj
c14
c1402c1402
c1402t
c1420t
c143ga
c1444t
c1445ga
c145
c1494t
c14orf1 chromosome 14 open reading frame 1|
c14orf166 chromosome 14 open reading frame 166|
c14orf28 chromosome 14 open reading frame 28|
c1502
c150t
c152
c1528gc
c156157insalu
c1562t
c1565
c157160delgagg
c159t
c16
c161t
c162165delaaga
c1622at
c1639ga
c1654t
c167delt
c1687ga
c16ceramide
c16orf35
c17
c171cg
c17315ga
c17391740insalu
c1772t
c178
c17t
c18
c182dela
c1858t
c1867
c187g
c187tc
c188
c18ceramide
c19
c190t
c1910ct
c1918cg
c196
c196gt
c19ga
c19mc
c19orf12 chromosome 19 open reading frame 12|This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
c1a
c1ag
c1b
c1c1
c1c2
c1c4
c1d C1D nuclear receptor corepressor|The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]
c1galt
c1galt1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1|The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
c1galt1330gt
c1galt1vc
c1inh
c1inhibitor
c1level
c1orf103
c1orf142
c1orf86 chromosome 1 open reading frame 86|
c1p
c1q
c1qa complement component 1, q subcomponent, A chain|This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq, Jul 2008]
c1qb complement component 1, q subcomponent, B chain|This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the B-chain polypeptide of human complement subcomponent C1q [provided by RefSeq, Jul 2008]
c1qc complement component 1, q subcomponent, C chain|This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
c1qc3d
c1qc4d
c1qg
c1qgc1qr
c1qigg
c1qmediated
c1qrelated
c1qtnf
c1r complement component 1, r subcomponent|
c1rc1s
c1rlp
c1s complement component 1, s subcomponent|This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
c1sc1rc1rc1s
c1ten
c20
c203
c204
c20orf112
c21
c2111gc
c211delc
c211t
c214242c
c2157dupt
c2171ga
c2210ga
c222
c2221
c2237522375
c224t
c2269t
c226ga
c228t
c229y
c23
c233a
c235delc
c2362f
c238
c238ga
c242t
c243244insa
c247ga
c24t
c252253insc
c2531t
c2548ga
c25581492558203del54
c25u
c260
c260t
c262t
c26392640deltg
c269ga
c27
c274ag
c28
c28052808delagat
c282y
c282yh63d
c287ga
c292
c292ct
c2967ca
c299s
c2a
c2alpha
c2b
c2bbe1
c2beta
c2c12
c2c2
c2cer
c2ceramide
c2ceramideinduced
c2cfb
c2domain
c2gnt
c2gnt1
c2gntexpressing
c2gntm
c2gntmcarrying
c2gntmvc
c2h2
c2h2type
c2ish2
c2like
c2orf3
c2orf43
c2orf44alk
c2orf71
c2oslex
c2prs
c2t
c2tc
c305
c3123aat2r2
c31243133delagcaatatta
c313t
c316ga
c319ct
c31a
c31ag
c31t
c321
c3221
c323
c326y
c327
c329t
c32t
c331
c331a
c331ct
c334
c33a
c33t
c3429
c3435t
c343ct
c344t
c345c
c34g
c34t
c35
c352t
c35delg
c35ga
c35t
c36
c365ag
c370ct
c376ct
c37gc
c381t
c382
c387
c3a
c3aanaphylatoxininduced
c3adesargacylation
c3ar
c3arc3a
c3b
c3bb
c3bc4b
c3bi
c3binding
c3d
c3dcr2
c3deficient
c3dp1
c3f
c3g
c3ga
c3gmay
c3h10t12
c3i
c3mediated
c3orf10
c3orf60
c3orf75elp6
c3po
c3r102g
c41657t
c418y
c42
c421a
c421t
c425a
c4268
c426ct
c42b
c430gt
c43ta
c449
c44a
c46359t
c46t
c47103t
c480t
c482t
c493
c494ga
c499t
c4a complement component 4A (Rodgers blood group)|This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
c4aq0
c4b complement component 4B (Chido blood group)|This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008]
c4bbinding
c4binding
c4bp
c4bpbc4bpa
c4bpbinding
c4bq0
c4d
c4dnegative
c4gnt
c4orf32 chromosome 4 open reading frame 32|
c4orf6
c4s
c4st1
c4type
c503ga
c508g
c509
c509t
c50t
c51145117deltaaa
c511t
c514t
c521delt
c521t
c5266dupc
c52ct
c52ga
c53
c5314at
c53c53
c53lzap
c546110tc
c55
c551ga
c5562ag
c562ct
c5639
c569y
c56t
c573t
c57bl An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology.
c57bl6 C57BL/6 is a mouse strain as described in Jackson Laboratory strain index
c57bl6j C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7
c57bl6nodaec1aec2
c588t
c589t
c590t
c593t
c5a
c5adesarg74
c5ainduced
c5amediated
c5ar
c5armediated
c5arp
c5b6
c5b9
c5b9af488
c5b9induced
c5bt
c5epimerase
c5l2
c5m3
c5orf42 chromosome 5 open reading frame 42|The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
c5t
c601cng
c609t
c61
c618r
c61g
c627t
c634g
c63g
c640t
c643
c64gt
c6589dela
c6607t
c667t
c674t
c677
c677t
c677tt
c69t
c6cer
c6ceramide
c6orf204pdgfrb
c6orf217
c6orf221
c6orf26rdbp
c6orf37
c6orf48 chromosome 6 open reading frame 48|
c6orf66interacting
c6orf97
c6s
c6st1
c704ct
c7091ga
c712c712
c712t
c718ct
c71ga
c722t
c729delg
c73r
c742t
c74ct
c7623t
c776g
c77g
c79771gc
c799
c7l
c7orf30
c7orf59
c7t
c80
c802tc
c807t
c8092a
c80ga
c81
c8168agpasp2723gly
c8246t
c824t
c825t
c8347ga
c855delg
c85t
c871ct
c889t
c8993t
c8alpha
c8beta
c8gamma
c8guanyl
c8hydroxylation
c8orf13
c8orf13blk
c8orf42were
c923t
c929ga
c936t
c939t
c957t
c958ca
c970cg
c972gcmutyh
c977cghogg1
c985ct
c98x
c99
c9orf140
c9orf5
c9orf65
c9orf72 chromosome 9 open reading frame 72|The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
ca1 carbonic anhydrase I|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. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
ca10
ca12 carbonic anhydrase XII|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. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]
ca125
ca125muc16
ca150
ca153
ca199
ca2 carbonic anhydrase II|The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
ca24
ca24cam
ca2activated
ca2affinity
ca2atpase
ca2atpases
ca2binding
ca2bound
ca2buffering
ca2c
ca2calcineurin
ca2calgranulin
ca2calmodulin
ca2calmodulindependent
ca2calmodulinindependent
ca2calpain
ca2calpainp73
ca2cam
ca2camcav12
ca2camdependent
ca2camkiidependent
ca2camkkbeta
ca2camp
ca2channel
ca2cib1
ca2concentrations
ca2csensitive
ca2dependent
ca2dependently
ca2differentiated
ca2ef3driven
ca2emediated
ca2entry
ca2free
ca2h
ca2handling
ca2i
ca2idependent
ca2in
ca2independent
ca2induced
ca2influx
ca2inositolphosphate
ca2ionophore
ca2loaded
ca2mediated
ca2mg2
ca2nfat
ca2o
ca2occupied
ca2oinduced
ca2osensitivity
ca2permeable
ca2pkcmapks
ca2regulated
ca2release
ca2rosmediated
ca2saturated
ca2selective
ca2sensing
ca2sensitive
ca2sensitivity
ca2sensitizing
ca2sensor
ca2stimulable
ca2triggered
ca3 carbonic anhydrase III|Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]
ca4 carbonic anhydrase IV|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. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
ca46
ca724
ca8 carbonic anhydrase VIII|The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. [provided by RefSeq, Jul 2008]
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]
ca922
caa
caaa
caaac
caad
caagcc
caaml
caancer
caarcinoma
caarelated
caat
caatenhancer
caatenhancerbinding
caax
cab
cab39 calcium binding protein 39|
cab45s
cabcer
cabg Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion.
cabin1 calcineurin binding protein 1|Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]
cabinding
cabl
cablcrkassociated
cabldependent
cablinteracting
cablmediated
cablmst
cablpkcdelta
cablpkcdeltarac1p38
cabp
cabp1 calcium binding protein 1|Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012]
cabp1p5
cabp4 calcium binding protein 4|This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
cabp7
cabps
cabyr calcium binding tyrosine-(Y)-phosphorylation regulated|To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
cac
cac02
cac1
cac2
cacalmodulin
cacc
caccc
cacd
cacgtg
cach
cachectic
cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
cachexiaassociated
cachexiarelated
cacinoma
cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit|Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010]
cacna1b calcium channel, voltage-dependent, N type, alpha 1B subunit|The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit|This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
cacna1ccacnb2
cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit|Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
cacna1f calcium channel, voltage-dependent, L type, alpha 1F subunit|This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit|Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]
cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit|This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
cacna2d1 calcium channel, voltage-dependent, alpha 2/delta subunit 1|The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]
cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2|Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
cacna2d3 calcium channel, voltage-dependent, alpha 2/delta subunit 3|This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
cacnb2 calcium channel, voltage-dependent, beta 2 subunit|This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
cacnb2b
cacnb4 calcium channel, voltage-dependent, beta 4 subunit|This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
cacner
caco
caco2
caco215
caco2bbe
caco2bbenhe3
caco2tc7
cacs
cact
cactus
cacul1 CDK2-associated, cullin domain 1|
cacx
cacybp calcyclin binding protein|The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
cacybpsip
cad Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
cadasil
cadassociated
cadaver
cadein1
cadependent
caderofloxacin
cadherin
cadherin11
cadherin17
cadherin23
cadherinassociated
cadherinbased
cadherincatenin
cadherindeficient
cadherine
cadherinmediated
cadherins
cadin
cadm1 cell adhesion molecule 1|
cadm1m18
cadmi
cadmium
cadmiuminduced
cadpr
cadprrelated
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]
cadre
cadrs
cae
caebv
caenorhabditis
caerphilly
caeruleus
caesarean
caesarian
caev
caexpas
caf
caf1
caf1a
caf1b
cafe
cafeaulait
cafestol A naphthofuran that has formula C20H28O3.
caffeic
caffeinated
caffeine A trimethylxanthine in which the three methyl groups are located at positions 1, 3, and 7. A purine alkaloid that occurs naturally in tea and coffee.
caffeinecoffee
caffeineinduced
caffeinetreated
cafs
cag
caga
cagadirected
cagaindependent
cagamediated
cagapositive
cagavacas1
cagavacas1m1
cagcaa
cagctg
cage Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5′ ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP).
cage1
caged
cages
cagl
cagly58e59
cagn
cagnctgn
cagocel
cagpai
cagpaihelicobacter
cagrepeat
cagtag
cah
cahl
cai
cai2
caid
caii
caiii
cain
caincabin1
caindependent
cainduced
caiv
caix
cajal
cajallike
cajalretzius
cak Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein; increases the activity of a cyclin-dependent protein kinase (CDK).
cakcdk7
caki
caki1
caki2
cakt
caktregulated
cakut
cal
cal27
calabria
calbindin
calbindind28k
calbindind9k
calbindinpositive
calcaneal
calcaneus
calcidiol A hydroxycalciol that is calciol in which the hydrogen at position 25 has been replaced by a hydroxy group. A prehormone resulting from the oxidation of calciol in the liver, it is further hydroxylated in the kidney to give calcitriol, the active form of vitamin D3.
calcific
calcification
calcificationassociated
calcificationrelated
calcifications
calcified
calcifying
calcimimetic
calcineurin
calcineurincyclophilincyclosporin
calcineurindependent
calcineurinmediated
calcineurinnfat
calcineurinnfatc
calcineurinregulated
calcinosis A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
calciotropic
calcipotriol A seco-cholestane that has formula C27H40O3.
calcite
calcitonin
calcitonincgrp
calcitrio
calcitriol A hydroxycalciol that is calcidiol in which the pro-S hydrogen of calcidiol is replaced by a hydroxy group. It is the active form of vitamin D3, produced fom calciol via hydoxylation in the liver to form calcidiol, which is subsequently oxidised in the kidney to give calcitriol.
calcitriolinduced
calcitriolmediated
calcitropic
calcium
calcium2permeable
calciumactivated
calciumbased
calciumbinding
calciumbound
calciumcalmodulin
calciumcalmodulindependent
calciumcalpaincaspase12caspase3
calciumcamakt
calciumchannel
calciumdependent
calciumindependent
calciuminduced
calciumion
calciumloaded
calciummediated
calciummodulating
calciummodulator
calciumpermeable
calciumphosphate
calciumregulated
calciumregulating
calciumselective
calciumsensing
calciumsensitive
calciumsensitivity
calciumstimulated
calciumvitamin
calcr calcitonin receptor|This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
calcrl calcitonin receptor-like|
calcrlramp
calculate
calculated
calculating
calculation
calculations
calculator
calculi
calculous
calculus
calcyclin
calcyon
cald1 caldesmon 1|This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
caldaggefi
caldendrin
caldesmon
calf
calf1
calf2
calgizzarin
calgranulin
calhm1
calhm1mediated
caliber
calibration
calibre
california
californians
call
called
callele
calling
callithrix
callosal
callosum
callosumcausing
callousunemotional
calls
callus Undifferentiated tissue that develops on or around an injured or cut plant surface or in tissue culture.
calm
calm1 calmodulin 1 (phosphorylase kinase, delta)|This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
calmaf10
calmaf10in
calmetteguerin
calmodulin
calmodulinbinding Interacting selectively and non-covalently with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
calmodulincamkiidependent
calmodulinckii
calmodulindependent
calmodulinregulated
calnexin
calnexindependent
calnnfat
calnuc
caloric
calorie
calories
calorimetric
calorimetry
calp
calpactin
calpain
calpain1
calpain10
calpain2
calpain3
calpain5
calpain6
calpain7
calpainactivated
calpainb
calpaincalpastatin
calpaindependent
calpainindependent
calpainmediated
calpainopathy
calpains
calpastatin
calpastatinbased
calpastatincalpain
calpha
calphacamkii
calphaformylglycinegenerating
calphoglin
calphostin
calponin
calponinhomology
calprotectin
calr calreticulin|Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008]
calrasxl1
calreticulin
calreticulincalnexin
calreticulindependent
calreticulinlrp1
calreticulinmediated
calretinin
calrmut
calrmutated
cals
calsenilin
calsequestrin
calsequestrin1
calsyntenin1
calu calumenin|The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
calu12egfp
calu12egfpcontaining
calu15
calu3
calumenin
calvaria
calvarial
calve
calyces
calyculin
cam
cam1
cam52
cama2ad2
cambd
cambinding Interacting selectively and non-covalently with a cell adhesion molecule.
cambridge
camcer
camdependent
camdi
camdr
came
camel
camendocytosis
cameroon
camf90lryr2
camfasdd
camk
camk1d calcium/calmodulin-dependent protein kinase ID|This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]
camk1g calcium/calmodulin-dependent protein kinase IG|This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008]
camk2a calcium/calmodulin-dependent protein kinase II alpha|The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008]
camk2b calcium/calmodulin-dependent protein kinase II beta|The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2|This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008]
camk4 calcium/calmodulin-dependent protein kinase IV|The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]
camk4dependent
camk4induced
camki
camkialpha
camkii
camkiia
camkiialpha
camkiid
camkiidelta
camkiidelta6
camkiideltab
camkiidependent
camkiigamma
camkiimediated
camkiv
camkivcrebbcl2
camkivregulated
camkk
camkk2 calcium/calmodulin-dependent protein kinase kinase 2, beta|The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]
camkkaktp300
camkkalpha
camkkb
camkkbeta
camkkbetaampk
camkkii
caml
camnav12iqp
camp cathelicidin antimicrobial peptide|This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation. [provided by RefSeq, Sep 2014]
campalpha
campania
campassociated
campath1h
campathtreated
campbinding Interacting selectively and non-covalently with cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate).
campcreb1
campcrebatf
campdependent
campdetermined
campelevating
campepac
campepac1rap1
campepacrap1
campepacrap1socs3
campesterol
campfoxp3dependent
campindependent
campinduced
campmediated
campothecin
camppcreb
camppi3kpkbmekerk12trpc6
camppka
camppkaca2
camppkacreb
camppkacrebactivated
camppkadependent
camppkaerk
camppkapathway
camppkatiam1rac1
campprotein
campregulated
campresponse
campresponsive
camprhoasignaling
campsignaling Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell.
campsp1
campspecific
campstimulated
camptodactyly The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
camptothecin A pyranoindolizinoquinoline that has formula C20H16N2O4.
camptothecindriven
camptothecininduced
camptothecintreated
campvasoactive
campylobacter
cams
camsap1 calmodulin regulated spectrin-associated protein 1|
camsappatronin
camt
camta1 calmodulin binding transcription activator 1|
camta1wwtr1
camy1
canada
canadian
canadians
canakkale
canal
canalicular
canaliculi
canaliculus
canalisation
canals
canary
cance
canceer
canceled
cancellous
cancels
cancera
canceraffected
cancerassociated
cancerassociatedmesenchymal
cancerbearing
cancercausing
cancercell
cancercrc
cancercrctissues
cancerderived
cancerdriver
cancerendothelial
cancereoc
cancerfound
cancerfree
cancergrowth
cancerhigh
cancerinduced
cancerinitiating
canceris
cancerization
cancerlinked
cancermetaanalysis
cancernormal
cancernsclc
cancerogenesis
cancerous
cancerpca
cancerpredisposing
cancerpromoting
cancerprone
cancerracgap1
cancerrelated
cancerrelevant
cancerresistant
cancerresults
cancerretina
cancerreview
cancers
cancersinactivation
cancerspecific
cancersreview
cancerstageassociated
cancerstromal
cancersusceptibility
cancersustaining
cancertestis
cancertestisassociated
cancerthere
cancervby
cand1 cullin-associated and neddylation-dissociated 1|
cand1cul1roc1
cand2 cullin-associated and neddylation-dissociated 2 (putative)|
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.
candian
candida
candidacidal
candidacy
candidainfected
candidaspecific
candidate
candidategene
candidates
candidature
candidemia
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.
candidosis
candis
caner
cangrelor
canine
canines
canis
cannabidiol An organic molecular entity that has formula C21H30O2.
cannabinoid A diverse group of pharmacologically active secondary metabolite characteristic to Cannabis plant as well as produced naturally in the body by humans and animals. Cannabinoids contain oxygen as a part of the heterocyclic ring or in the form of various functional groups. They are subdivided on the basis of their origin.
cannabinoid1
cannabinoidinduced
cannabinoids
cannabinol
cannabis
cannibalism
cannonical
cannot
cannup214
canonic
canonical
canril
cant
cantly
cantonensis
cantonese
canuts
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]
caov3
caox
cap
cap1 CAP, adenylate cyclase-associated protein 1 (yeast)|The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2008]
cap18
cap2 CAP, adenylate cyclase-associated protein, 2 (yeast)|This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
cap350
cap43
capabilities
capability
capable
capably
capacitance
capacitation
capacitative
capacities
capacity
capacitydegree
capaf1
capaf1caspase
capaf1dependent
capan1
capan2
capase3
capbinding
capc
capd
capd3
capdependent
cape
capecitabine
capecitabineinduced
capecitabineraltitrexed
caperalpha
capg capping protein (actin filament), gelsolin-like|This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]
capgly
capglymediated
caph
capicua
capillaries
capillarization
capillarized
capillaroscopy
capillary A capillary tube; especially: any of the smallest blood vessels connecting arterioles with venules and forming networks throughout the body.
capillarylike
capindependent
capinitiation
capital
capn
capn1 calpain 1, (mu/I) large subunit|The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
capn10 calpain 10|Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
capn3 calpain 3, (p94)|Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
capn4
capn5 calpain 5|Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]
capn7 calpain 7|Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
capns
capns1 calpain, small subunit 1|This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
capox
capped
capper
capping
cappl1aappl2
cappuzzo
capri
caprin1 cell cycle associated protein 1|
caprin1g3bp1
caprin2 caprin family member 2|The protein encoded by this gene may be involved in the transitioning of erythroblasts from a highly proliferative state to a terminal phase of differentiation. High level expression of the encoded protein can lead to apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
caprine
caps
caps1
capsaicin A capsaicinoid that has formula C18H27NO3.
capsaicinmediated
capsaicinsensitive
capsazepine A benzazepine that is 2,3,4,5-tetrahydro-1H-2-benzazepine which is substituted by hydroxy groups at positions 7 and 8 and on the nitrogen atom by a 2-(p-chlorophenyl)ethylaminothiocarbonyl group. A synthetic analogue of capsaicin, it was the first reported capsaicin receptor antagonist.
capsid
capsids
capsular
capsule A protective structure surrounding some fungi and bacteria, attached externally to the cell wall and composed primarily of polysaccharides. Capsules are highly organized structures that adhere strongly to cells and cannot be easily removed. Capsules play important roles in pathogenicity, preventing phagocytosis by other cells, adherance, and resistance to dessication.
capsules
captopril A L-proline derivative in which L-proline is substituted on nitrogen with a (2S)-2-methyl-3-sulfanylpropanoyl group. It is used as an anti-hypertensive ACE inhibitor drug.
capture
captured
captures
capturing
caput
capz
capzalpha
capzip
caqrcinogenesis
car A cytoskeletal structure composed of actin filaments and myosin that forms beneath the plasma membrane of many cells, including animal cells and yeast cells, in a plane perpendicular to the axis of the spindle, i.e. the cell division plane. Ring contraction is associated with centripetal growth of the membrane that divides the cytoplasm of the two daughter cells. In animal cells, the contractile ring is located inside the plasma membrane at the location of the cleavage furrow. In budding fungal cells, e.g. mitotic S. cerevisiae cells, the contractile ring forms beneath the plasma membrane at the mother-bud neck before mitosis.
caraqp2
carbachol An ammonium salt that has formula C6H15N2O2.Cl.
carbacholinduced
carbamazepine A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant.
carbamazepineinduced
carbamoyl
carbamoylphosphate
carbamoyltransferase
carbamoyltransferasedihydroorotase
carbamylated
carbamylation
carbimazole
carbocysteine
carbohydrate Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates.
carbohydratebinding Interacting selectively and non-covalently with any carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates.
carbohydratedependent
carbohydratelinked
carbohydratelow
carbohydraterecognition
carbohydraterich
carbohydrates
carbohydratespecific
carbon
carbonate
carbonatebased
carbonic
carbonion
carbonyl
carbonylated
carbonylation
carbonyls
carboplatin A platinum coordination entity with cis square-planar geometry in which platinum(II) is coordinated to two ammonia ligands and a bidentate cyclobutane-1,1-dicarboxylate ligand.
carboplatingemcitabine
carboxamide
carboxy
carboxykinase
carboxyl
carboxylase
carboxylasealpha
carboxylate
carboxylatecontaining
carboxylated