| Symbol |
Name |
|
ABCC1
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 1
|
|
ACHE
|
acetylcholinesterase (Yt blood group)
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADAMTS4
|
ADAM metallopeptidase with thrombospondin type 1 motif, 4
|
|
ADAMTS5
|
ADAM metallopeptidase with thrombospondin type 1 motif, 5
|
|
ADRB2
|
adrenoceptor beta 2, surface
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALB
|
albumin
|
|
ALDH2
|
aldehyde dehydrogenase 2 family (mitochondrial)
|
|
ANGPT2
|
angiopoietin 2
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
APC
|
adenomatous polyposis coli
|
|
APOA2
|
apolipoprotein A-II
|
|
APOBEC3A
|
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A
|
|
AQP4
|
aquaporin 4
|
|
ARF6
|
ADP-ribosylation factor 6
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ATM
|
ATM serine/threonine kinase
|
|
AURKA
|
aurora kinase A
|
|
AXL
|
AXL receptor tyrosine kinase
|
|
BACH2
|
BTB and CNC homology 1, basic leucine zipper transcription factor 2
|
|
BCLAF1
|
BCL2-associated transcription factor 1
|
|
BGLAP
|
bone gamma-carboxyglutamate (gla) protein
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSG
|
basigin (Ok blood group)
|
|
C1QA
|
complement component 1, q subcomponent, A chain
|
|
C1QB
|
complement component 1, q subcomponent, B chain
|
|
C1QC
|
complement component 1, q subcomponent, C chain
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA2
|
carbonic anhydrase II
|
|
CADM1
|
cell adhesion molecule 1
|
|
CCL27
|
chemokine (C-C motif) ligand 27
|
|
CCND1
|
cyclin D1
|
|
CD1C
|
CD1c molecule
|
|
CD47
|
CD47 molecule
|
|
CD52
|
CD52 molecule
|
|
CD68
|
CD68 molecule
|
|
CD72
|
CD72 molecule
|
|
CDC6
|
cell division cycle 6
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDH2
|
cadherin 2, type 1, N-cadherin (neuronal)
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CEP63
|
centrosomal protein 63kDa
|
|
CETN2
|
centrin, EF-hand protein, 2
|
|
CHGA
|
chromogranin A
|
|
CHIT1
|
chitinase 1 (chitotriosidase)
|
|
CLEC4C
|
C-type lectin domain family 4, member C
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
COL4A6
|
collagen, type IV, alpha 6
|
|
COL6A5
|
collagen, type VI, alpha 5
|
|
COL6A6
|
collagen, type VI, alpha 6
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CPB2
|
carboxypeptidase B2 (plasma)
|
|
CREBBP
|
CREB binding protein
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CRYGD
|
crystallin, gamma D
|
|
CRYGS
|
crystallin, gamma S
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CSMD1
|
CUB and Sushi multiple domains 1
|
|
CSTB
|
cystatin B (stefin B)
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTCFL
|
CCCTC-binding factor (zinc finger protein)-like
|
|
CTSB
|
cathepsin B
|
|
CTSS
|
cathepsin S
|
|
CTTN
|
cortactin
|
|
CUL1
|
cullin 1
|
|
CXCL14
|
chemokine (C-X-C motif) ligand 14
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
DIRAS3
|
DIRAS family, GTP-binding RAS-like 3
|
|
DMD
|
dystrophin
|
|
DMP1
|
dentin matrix acidic phosphoprotein 1
|
|
DOCK2
|
dedicator of cytokinesis 2
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DYNLL1
|
dynein, light chain, LC8-type 1
|
|
EBI3
|
Epstein-Barr virus induced 3
|
|
EDN1
|
endothelin 1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EIF4E
|
eukaryotic translation initiation factor 4E
|
|
EIF4EBP1
|
eukaryotic translation initiation factor 4E binding protein 1
|
|
EIF4EBP2
|
eukaryotic translation initiation factor 4E binding protein 2
|
|
EIF5B
|
eukaryotic translation initiation factor 5B
|
|
ELMO1
|
engulfment and cell motility 1
|
|
EP300
|
E1A binding protein p300
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
F11
|
coagulation factor XI
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FBXL21
|
F-box and leucine-rich repeat protein 21 (gene/pseudogene)
|
|
FGA
|
fibrinogen alpha chain
|
|
FH
|
fumarate hydratase
|
|
FOXP3
|
forkhead box P3
|
|
FXR1
|
fragile X mental retardation, autosomal homolog 1
|
|
GAK
|
cyclin G associated kinase
|
|
GAP43
|
growth associated protein 43
|
|
GAS6
|
growth arrest-specific 6
|
|
GATA3
|
GATA binding protein 3
|
|
GH1
|
growth hormone 1
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GMFB
|
glia maturation factor, beta
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GRB2
|
growth factor receptor-bound protein 2
|
|
GRB7
|
growth factor receptor-bound protein 7
|
|
GSDMA
|
gasdermin A
|
|
GSDMB
|
gasdermin B
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GYPB
|
glycophorin B (MNS blood group)
|
|
H2AFX
|
H2A histone family, member X
|
|
HBB
|
hemoglobin, beta
|
|
HDAC2
|
histone deacetylase 2
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HIST2H3C
|
histone cluster 2, H3c
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-C
|
major histocompatibility complex, class I, C
|
|
HLA-DPA1
|
major histocompatibility complex, class II, DP alpha 1
|
|
HLA-G
|
major histocompatibility complex, class I, G
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HOXA9
|
homeobox A9
|
|
HOXD3
|
homeobox D3
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HRC
|
histidine rich calcium binding protein
|
|
HRH3
|
histamine receptor H3
|
|
HSD17B1
|
hydroxysteroid (17-beta) dehydrogenase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
ICAM1
|
intercellular adhesion molecule 1
|
|
IFNA2
|
interferon, alpha 2
|
|
IFNL3
|
interferon, lambda 3
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IL13
|
interleukin 13
|
|
IL17C
|
interleukin 17C
|
|
IL18
|
interleukin 18
|
|
IL1B
|
interleukin 1, beta
|
|
IL3
|
interleukin 3
|
|
IL4
|
interleukin 4
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
IRAK3
|
interleukin-1 receptor-associated kinase 3
|
|
JAK2
|
Janus kinase 2
|
|
KAT6A
|
K(lysine) acetyltransferase 6A
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNK4
|
potassium channel, two pore domain subfamily K, member 4
|
|
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
|
|
KIF23
|
kinesin family member 23
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLF4
|
Kruppel-like factor 4 (gut)
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LCT
|
lactase
|
|
LEP
|
leptin
|
|
LGALS1
|
lectin, galactoside-binding, soluble, 1
|
|
LMNB1
|
lamin B1
|
|
LRP1
|
low density lipoprotein receptor-related protein 1
|
|
LRRC15
|
leucine rich repeat containing 15
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
LYVE1
|
lymphatic vessel endothelial hyaluronan receptor 1
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MEF2A
|
myocyte enhancer factor 2A
|
|
MEP1B
|
meprin A, beta
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MIEN1
|
migration and invasion enhancer 1
|
|
MLH1
|
mutL homolog 1
|
|
MMP10
|
matrix metallopeptidase 10
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MMP3
|
matrix metallopeptidase 3
|
|
MMP7
|
matrix metallopeptidase 7
|
|
MSH2
|
mutS homolog 2
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
NAA11
|
N(alpha)-acetyltransferase 11, NatA catalytic subunit
|
|
NEDD1
|
neural precursor cell expressed, developmentally down-regulated 1
|
|
NES
|
nestin
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NGFR
|
nerve growth factor receptor
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NOS2
|
nitric oxide synthase 2, inducible
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
NOTCH3
|
notch 3
|
|
NPY
|
neuropeptide Y
|
|
NT5E
|
5'-nucleotidase, ecto (CD73)
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAH
|
phenylalanine hydroxylase
|
|
PCBP3
|
poly(rC) binding protein 3
|
|
PDCD5
|
programmed cell death 5
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDIA2
|
protein disulfide isomerase family A, member 2
|
|
PDPN
|
podoplanin
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PHOSPHO1
|
phosphatase, orphan 1
|
|
PHOSPHO2
|
phosphatase, orphan 2
|
|
PI4KA
|
phosphatidylinositol 4-kinase, catalytic, alpha
|
|
PLA2G5
|
phospholipase A2, group V
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLP1
|
proteolipid protein 1
|
|
PML
|
promyelocytic leukemia
|
|
PNMT
|
phenylethanolamine N-methyltransferase
|
|
PNPLA3
|
patatin-like phospholipase domain containing 3
|
|
POLH
|
polymerase (DNA directed), eta
|
|
POLRMT
|
polymerase (RNA) mitochondrial (DNA directed)
|
|
PON1
|
paraoxonase 1
|
|
PPM1D
|
protein phosphatase, Mg2+/Mn2+ dependent, 1D
|
|
PPP1R1B
|
protein phosphatase 1, regulatory (inhibitor) subunit 1B
|
|
PRG4
|
proteoglycan 4
|
|
PRNP
|
prion protein
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROZ
|
protein Z, vitamin K-dependent plasma glycoprotein
|
|
PSD
|
pleckstrin and Sec7 domain containing
|
|
PSEN1
|
presenilin 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
PUM1
|
pumilio RNA-binding family member 1
|
|
PUM2
|
pumilio RNA-binding family member 2
|
|
RAD51
|
RAD51 recombinase
|
|
RAG2
|
recombination activating gene 2
|
|
RAN
|
RAN, member RAS oncogene family
|
|
RBM5
|
RNA binding motif protein 5
|
|
RBMX
|
RNA binding motif protein, X-linked
|
|
REN
|
renin
|
|
REST
|
RE1-silencing transcription factor
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RPLP0
|
ribosomal protein, large, P0
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SBSN
|
suprabasin
|
|
SEMA4D
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
|
|
SEPT11
|
septin 11
|
|
SEPT7
|
septin 7
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SET
|
SET nuclear proto-oncogene
|
|
SHH
|
sonic hedgehog
|
|
SIRPA
|
signal-regulatory protein alpha
|
|
SLC12A5
|
solute carrier family 12 (potassium/chloride transporter), member 5
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC7A5
|
solute carrier family 7 (amino acid transporter light chain, L system), member 5
|
|
SLC9A1
|
solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SP7
|
Sp7 transcription factor
|
|
SPAST
|
spastin
|
|
STARD3
|
StAR-related lipid transfer (START) domain containing 3
|
|
SYP
|
synaptophysin
|
|
SYPL2
|
synaptophysin-like 2
|
|
TACR1
|
tachykinin receptor 1
|
|
TAP1
|
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TCAP
|
titin-cap
|
|
TERF1
|
telomeric repeat binding factor (NIMA-interacting) 1
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAM
|
transcription factor A, mitochondrial
|
|
TFB2M
|
transcription factor B2, mitochondrial
|
|
TFPI
|
tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
THBD
|
thrombomodulin
|
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
|
TLR4
|
toll-like receptor 4
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TNC
|
tenascin C
|
|
TNF
|
tumor necrosis factor
|
|
TNFSF10
|
tumor necrosis factor (ligand) superfamily, member 10
|
|
TNXB
|
tenascin XB
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TP53
|
tumor protein p53
|
|
TP53BP1
|
tumor protein p53 binding protein 1
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UPF1
|
UPF1 regulator of nonsense transcripts homolog (yeast)
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VTN
|
vitronectin
|
|
WDR41
|
WD repeat domain 41
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
ZFP36
|
ZFP36 ring finger protein
|
|
ZNF804A
|
zinc finger protein 804A
|
