| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AKAP1
|
A kinase (PRKA) anchor protein 1
|
|
ALOX5
|
arachidonate 5-lipoxygenase
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP1
|
aquaporin 1 (Colton blood group)
|
|
ARL3
|
ADP-ribosylation factor-like 3
|
|
ARMC4
|
armadillo repeat containing 4
|
|
ARMS2
|
age-related maculopathy susceptibility 2
|
|
ATAD3A
|
ATPase family, AAA domain containing 3A
|
|
ATP11C
|
ATPase, class VI, type 11C
|
|
AURKB
|
aurora kinase B
|
|
BAK1
|
BCL2-antagonist/killer 1
|
|
BAX
|
BCL2-associated X protein
|
|
BCL2
|
B-cell CLL/lymphoma 2
|
|
BCL2L1
|
BCL2-like 1
|
|
BCL2L11
|
BCL2-like 11 (apoptosis facilitator)
|
|
BECN1
|
beclin 1, autophagy related
|
|
BID
|
BH3 interacting domain death agonist
|
|
BNIP3
|
BCL2/adenovirus E1B 19kDa interacting protein 3
|
|
BNIP3L
|
BCL2/adenovirus E1B 19kDa interacting protein 3-like
|
|
BPI
|
bactericidal/permeability-increasing protein
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
C4BPA
|
complement component 4 binding protein, alpha
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CAMP
|
cathelicidin antimicrobial peptide
|
|
CASC5
|
cancer susceptibility candidate 5
|
|
CASP2
|
caspase 2, apoptosis-related cysteine peptidase
|
|
CBFB
|
core-binding factor, beta subunit
|
|
CCDC114
|
coiled-coil domain containing 114
|
|
CCDC151
|
coiled-coil domain containing 151
|
|
CCND1
|
cyclin D1
|
|
CD14
|
CD14 molecule
|
|
CDC50A
|
cell division cycle 50 P4-ATPase accessory subunit A
|
|
CDHR1
|
cadherin-related family member 1
|
|
CEACAM1
|
carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
|
|
CENPC
|
centromere protein C
|
|
CENPE
|
centromere protein E, 312kDa
|
|
CENPH
|
centromere protein H
|
|
CENPI
|
centromere protein I
|
|
CENPJ
|
centromere protein J
|
|
CENPK
|
centromere protein K
|
|
CENPT
|
centromere protein T
|
|
CEP135
|
centrosomal protein 135kDa
|
|
CFH
|
complement factor H
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHCHD4
|
coiled-coil-helix-coiled-coil-helix domain containing 4
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYCS
|
cytochrome c, somatic
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
DAB1
|
Dab, reelin signal transducer, homolog 1 (Drosophila)
|
|
DAW1
|
dynein assembly factor with WDR repeat domains 1
|
|
DIABLO
|
diablo, IAP-binding mitochondrial protein
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DNAH5
|
dynein, axonemal, heavy chain 5
|
|
DNAI2
|
dynein, axonemal, intermediate chain 2
|
|
DNM1L
|
dynamin 1-like
|
|
DSG1
|
desmoglein 1
|
|
DSG2
|
desmoglein 2
|
|
DSG3
|
desmoglein 3
|
|
ELANE
|
elastase, neutrophil expressed
|
|
ELN
|
elastin
|
|
EMD
|
emerin
|
|
EPPIN
|
epididymal peptidase inhibitor
|
|
ESR2
|
estrogen receptor 2 (ER beta)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FAM65B
|
family with sequence similarity 65, member B
|
|
FBN1
|
fibrillin 1
|
|
FECH
|
ferrochelatase
|
|
FGF2
|
fibroblast growth factor 2 (basic)
|
|
FIS1
|
fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)
|
|
FLT1
|
fms-related tyrosine kinase 1
|
|
FN1
|
fibronectin 1
|
|
GAP43
|
growth associated protein 43
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GFRA1
|
GDNF family receptor alpha 1
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLI1
|
GLI family zinc finger 1
|
|
GLRX
|
glutaredoxin (thioltransferase)
|
|
GNB5
|
guanine nucleotide binding protein (G protein), beta 5
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HEBP2
|
heme binding protein 2
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HSD3B1
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HSP90B1
|
heat shock protein 90kDa beta (Grp94), member 1
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HSPA8
|
heat shock 70kDa protein 8
|
|
HSPA9
|
heat shock 70kDa protein 9 (mortalin)
|
|
HTR4
|
5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HTT
|
huntingtin
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
IFNB1
|
interferon, beta 1, fibroblast
|
|
IFNG
|
interferon, gamma
|
|
IL1B
|
interleukin 1, beta
|
|
ING4
|
inhibitor of growth family, member 4
|
|
IRF3
|
interferon regulatory factor 3
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
ITGB1
|
integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
|
|
KCNB1
|
potassium channel, voltage gated Shab related subfamily B, member 1
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNK4
|
potassium channel, two pore domain subfamily K, member 4
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
KCNN3
|
potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
KDR
|
kinase insert domain receptor
|
|
KLC3
|
kinesin light chain 3
|
|
KRT14
|
keratin 14, type I
|
|
KRT16
|
keratin 16, type I
|
|
LAMC2
|
laminin, gamma 2
|
|
LRRC6
|
leucine rich repeat containing 6
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MARC1
|
mitochondrial amidoxime reducing component 1
|
|
MARCH5
|
membrane-associated ring finger (C3HC4) 5
|
|
MCL1
|
myeloid cell leukemia 1
|
|
MFAP2
|
microfibrillar-associated protein 2
|
|
MFN1
|
mitofusin 1
|
|
MIEF1
|
mitochondrial elongation factor 1
|
|
MIEF2
|
mitochondrial elongation factor 2
|
|
MIS12
|
MIS12 kinetochore complex component
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MTCH1
|
mitochondrial carrier 1
|
|
MTNR1B
|
melatonin receptor 1B
|
|
MYC
|
v-myc avian myelocytomatosis viral oncogene homolog
|
|
MYH11
|
myosin, heavy chain 11, smooth muscle
|
|
NDC80
|
NDC80 kinetochore complex component
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NEU3
|
sialidase 3 (membrane sialidase)
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NOD1
|
nucleotide-binding oligomerization domain containing 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
NUF2
|
NUF2, NDC80 kinetochore complex component
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PAPPA
|
pregnancy-associated plasma protein A, pappalysin 1
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDPN
|
podoplanin
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PKP1
|
plakophilin 1
|
|
PLA2G1B
|
phospholipase A2, group IB (pancreas)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLAUR
|
plasminogen activator, urokinase receptor
|
|
PLD6
|
phospholipase D family, member 6
|
|
PLG
|
plasminogen
|
|
PPP1R15A
|
protein phosphatase 1, regulatory subunit 15A
|
|
PRKAA1
|
protein kinase, AMP-activated, alpha 1 catalytic subunit
|
|
PRKAA2
|
protein kinase, AMP-activated, alpha 2 catalytic subunit
|
|
PRPH
|
peripherin
|
|
PTGIR
|
prostaglandin I2 (prostacyclin) receptor (IP)
|
|
RDH8
|
retinol dehydrogenase 8 (all-trans)
|
|
RHOT1
|
ras homolog family member T1
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
SASS6
|
spindle assembly 6 homolog (C. elegans)
|
|
SCARB1
|
scavenger receptor class B, member 1
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SEMA3F
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SH3GLB1
|
SH3-domain GRB2-like endophilin B1
|
|
SLC26A5
|
solute carrier family 26 (anion exchanger), member 5
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC32A1
|
solute carrier family 32 (GABA vesicular transporter), member 1
|
|
SLC5A1
|
solute carrier family 5 (sodium/glucose cotransporter), member 1
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPATA18
|
spermatogenesis associated 18
|
|
SPTBN5
|
spectrin, beta, non-erythrocytic 5
|
|
SSTR2
|
somatostatin receptor 2
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STXBP1
|
syntaxin binding protein 1
|
|
STYXL1
|
serine/threonine/tyrosine interacting-like 1
|
|
SYNE4
|
spectrin repeat containing, nuclear envelope family member 4
|
|
SYP
|
synaptophysin
|
|
TBK1
|
TANK-binding kinase 1
|
|
TCTE3
|
t-complex-associated-testis-expressed 3
|
|
TECTA
|
tectorin alpha
|
|
THSD1
|
thrombospondin, type I, domain containing 1
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TLR2
|
toll-like receptor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TNFRSF4
|
tumor necrosis factor receptor superfamily, member 4
|
|
TNMD
|
tenomodulin
|
|
TOMM20
|
translocase of outer mitochondrial membrane 20 homolog (yeast)
|
|
TOMM22
|
translocase of outer mitochondrial membrane 22 homolog (yeast)
|
|
TP53
|
tumor protein p53
|
|
TRPM2
|
transient receptor potential cation channel, subfamily M, member 2
|
|
TRPM5
|
transient receptor potential cation channel, subfamily M, member 5
|
|
TTR
|
transthyretin
|
|
TXNRD1
|
thioredoxin reductase 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VCP
|
valosin containing protein
|
|
VDAC1
|
voltage-dependent anion channel 1
|
|
VDAC2
|
voltage-dependent anion channel 2
|
|
VDAC3
|
voltage-dependent anion channel 3
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VTN
|
vitronectin
|
|
XIAP
|
X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
|
|
ZFYVE9
|
zinc finger, FYVE domain containing 9
|
|
ZW10
|
zw10 kinetochore protein
|
|
ZWINT
|
ZW10 interacting kinetochore protein
|
