exon Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description An exon is a nucleic acid sequence that is represented in the mature form of an RNA molecule either after portions of a precursor RNA (introns) have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing. (Experimental Factor Ontology, EFO_0004423)
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Genes

1175 genes co-occuring with the biological term exon in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
A2M alpha-2-macroglobulin
A4GALT alpha 1,4-galactosyltransferase
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACADVL acyl-CoA dehydrogenase, very long chain
ACSL6 acyl-CoA synthetase long-chain family member 6
ACSM1 acyl-CoA synthetase medium-chain family member 1
ACTA1 actin, alpha 1, skeletal muscle
ACTA2 actin, alpha 2, smooth muscle, aorta
ACYP1 acylphosphatase 1, erythrocyte (common) type
ADAM15 ADAM metallopeptidase domain 15
ADAM33 ADAM metallopeptidase domain 33
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
ADAR adenosine deaminase, RNA-specific
ADARB1 adenosine deaminase, RNA-specific, B1
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADIPOQ adiponectin, C1Q and collagen domain containing
AGER advanced glycosylation end product-specific receptor
AGO2 argonaute RISC catalytic component 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AGXT alanine-glyoxylate aminotransferase
AHSG alpha-2-HS-glycoprotein
AICDA activation-induced cytidine deaminase
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAS1 5'-aminolevulinate synthase 1
ALAS2 5'-aminolevulinate synthase 2
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALK anaplastic lymphoma receptor tyrosine kinase
ALOX5 arachidonate 5-lipoxygenase
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMACR alpha-methylacyl-CoA racemase
AMBN ameloblastin (enamel matrix protein)
AMELX amelogenin, X-linked
AMPD1 adenosine monophosphate deaminase 1
ANK2 ankyrin 2, neuronal
ANKH ANKH inorganic pyrophosphate transport regulator
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOA2 apolipoprotein A-II
APOB apolipoprotein B
APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
APTX aprataxin
AQP4 aquaporin 4
AR androgen receptor
ARHGAP31 Rho GTPase activating protein 31
ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARMS2 age-related maculopathy susceptibility 2
ARNT aryl hydrocarbon receptor nuclear translocator
ARSA arylsulfatase A
ARX aristaless related homeobox
ASIP agouti signaling protein
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ATF1 activating transcription factor 1
ATF6 activating transcription factor 6
ATL1 atlastin GTPase 1
ATM ATM serine/threonine kinase
ATP11B ATPase, class VI, type 11B
ATP13A2 ATPase type 13A2
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP5C1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN2 ataxin 2
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
AXL AXL receptor tyrosine kinase
AZIN1 antizyme inhibitor 1
B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2
BAAT bile acid CoA:amino acid N-acyltransferase
BACE1 beta-site APP-cleaving enzyme 1
BAG6 BCL2-associated athanogene 6
BAX BCL2-associated X protein
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BCHE butyrylcholinesterase
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCL2A1 BCL2-related protein A1
BCL2L1 BCL2-like 1
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BCR breakpoint cluster region
BDKRB2 bradykinin receptor B2
BDNF brain-derived neurotrophic factor
BFSP1 beaded filament structural protein 1, filensin
BHMT betaine--homocysteine S-methyltransferase
BIN1 bridging integrator 1
BMP2 bone morphogenetic protein 2
BMPR1A bone morphogenetic protein receptor, type IA
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRD4 bromodomain containing 4
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
C10ORF2 chromosome 10 open reading frame 2
C5 complement component 5
CA2 carbonic anhydrase II
CA6 carbonic anhydrase VI
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CALCA calcitonin-related polypeptide alpha
CALR calreticulin
CASC3 cancer susceptibility candidate 3
CASP2 caspase 2, apoptosis-related cysteine peptidase
CASP5 caspase 5, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAT catalase
CATSPER1 cation channel, sperm associated 1
CAV3 caveolin 3
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CCDC88C coiled-coil domain containing 88C
CCL11 chemokine (C-C motif) ligand 11
CCM2 cerebral cavernous malformation 2
CCND1 cyclin D1
CCR2 chemokine (C-C motif) receptor 2
CCR3 chemokine (C-C motif) receptor 3
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD209 CD209 molecule
CD24 CD24 molecule
CD33 CD33 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD3EAP CD3e molecule, epsilon associated protein
CD4 CD4 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CD6 CD6 molecule
CD79B CD79b molecule, immunoglobulin-associated beta
CD80 CD80 molecule
CD82 CD82 molecule
CD86 CD86 molecule
CD8A CD8a molecule
CDC73 cell division cycle 73
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH23 cadherin-related 23
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDK11B cyclin-dependent kinase 11B
CDK4 cyclin-dependent kinase 4
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKL5 cyclin-dependent kinase-like 5
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CEL carboxyl ester lipase
CELF1 CUGBP, Elav-like family member 1
CELF2 CUGBP, Elav-like family member 2
CERS2 ceramide synthase 2
CES2 carboxylesterase 2
CETP cholesteryl ester transfer protein, plasma
CFH complement factor H
CFI complement factor I
CFL2 cofilin 2 (muscle)
CFP complement factor properdin
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CHGB chromogranin B
CHIA chitinase, acidic
CHL1 cell adhesion molecule L1-like
CHM choroideremia (Rab escort protein 1)
CHMP2B charged multivesicular body protein 2B
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CIITA class II, major histocompatibility complex, transactivator
CIZ1 CDKN1A interacting zinc finger protein 1
CKAP4 cytoskeleton-associated protein 4
CLCN1 chloride channel, voltage-sensitive 1
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLEC4M C-type lectin domain family 4, member M
CLN3 ceroid-lipofuscinosis, neuronal 3
CLOCK clock circadian regulator
CLU clusterin
CNR1 cannabinoid receptor 1 (brain)
CNTFR ciliary neurotrophic factor receptor
CNTN2 contactin 2 (axonal)
CNTNAP2 contactin associated protein-like 2
COL17A1 collagen, type XVII, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A5 collagen, type IV, alpha 5
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL7A1 collagen, type VII, alpha 1
COL9A2 collagen, type IX, alpha 2
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COMP cartilage oligomeric matrix protein
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CP ceruloplasmin (ferroxidase)
CPB2 carboxypeptidase B2 (plasma)
CPOX coproporphyrinogen oxidase
CPSF1 cleavage and polyadenylation specific factor 1, 160kDa
CPSF6 cleavage and polyadenylation specific factor 6, 68kDa
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CR2 complement component (3d/Epstein Barr virus) receptor 2
CREB1 cAMP responsive element binding protein 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CREBBP CREB binding protein
CREM cAMP responsive element modulator
CRHR1 corticotropin releasing hormone receptor 1
CRHR2 corticotropin releasing hormone receptor 2
CRLF2 cytokine receptor-like factor 2
CRTAC1 cartilage acidic protein 1
CRTC1 CREB regulated transcription coactivator 1
CRX cone-rod homeobox
CRYAA crystallin, alpha A
CRYBB2 crystallin, beta B2
CSF1R colony stimulating factor 1 receptor
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CTH cystathionine gamma-lyase
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSC cathepsin C
CTSD cathepsin D
CTSK cathepsin K
CUL3 cullin 3
CUL7 cullin 7
CWC22 CWC22 spliceosome-associated protein
CXADR coxsackie virus and adenovirus receptor
CXCL8 chemokine (C-X-C motif) ligand 8
CYBB cytochrome b-245, beta polypeptide
CYLD cylindromatosis (turban tumor syndrome)
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP2S1 cytochrome P450, family 2, subfamily S, polypeptide 1
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
CYR61 cysteine-rich, angiogenic inducer, 61
CYYR1 cysteine/tyrosine-rich 1
DAZAP1 DAZ associated protein 1
DAZL deleted in azoospermia-like
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
DCLRE1C DNA cross-link repair 1C
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDR1 discoidin domain receptor tyrosine kinase 1
DDX17 DEAD (Asp-Glu-Ala-Asp) box helicase 17
DDX5 DEAD (Asp-Glu-Ala-Asp) box helicase 5
DEFB103B defensin, beta 103B
DES desmin
DFNB59 deafness, autosomal recessive 59
DGUOK deoxyguanosine kinase
DHRS4 dehydrogenase/reductase (SDR family) member 4
DISC1 disrupted in schizophrenia 1
DKC1 dyskeratosis congenita 1, dyskerin
DLD dihydrolipoamide dehydrogenase
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMD dystrophin
DNAH11 dynein, axonemal, heavy chain 11
DNASE1 deoxyribonuclease I
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DOCK8 dedicator of cytokinesis 8
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
DRD2 dopamine receptor D2
DRD4 dopamine receptor D4
DROSHA drosha, ribonuclease type III
DSCAM Down syndrome cell adhesion molecule
DSG4 desmoglein 4
DSP desmoplakin
DSPP dentin sialophosphoprotein
DTD1 D-tyrosyl-tRNA deacylase 1
DVL2 dishevelled segment polarity protein 2
DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNLT1 dynein, light chain, Tctex-type 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
DYSF dysferlin
ECM1 extracellular matrix protein 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDN1 endothelin 1
EDNRB endothelin receptor type B
EFNA1 ephrin-A1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EGLN3 egl-9 family hypoxia-inducible factor 3
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EIF4A3 eukaryotic translation initiation factor 4A3
ELAVL1 ELAV like RNA binding protein 1
ELF4 E74-like factor 4 (ets domain transcription factor)
ELL2 elongation factor, RNA polymerase II, 2
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EN2 engrailed homeobox 2
ENAM enamelin
ENG endoglin
ENOX2 ecto-NOX disulfide-thiol exchanger 2
EP300 E1A binding protein p300
EPB41 erythrocyte membrane protein band 4.1
EPCAM epithelial cell adhesion molecule
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPHX2 epoxide hydrolase 2, cytoplasmic
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EPOR erythropoietin receptor
ERAP1 endoplasmic reticulum aminopeptidase 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ETFDH electron-transferring-flavoprotein dehydrogenase
ETV6 ets variant 6
EWSR1 EWS RNA-binding protein 1
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EXTL3 exostosin-like glycosyltransferase 3
EYA1 EYA transcriptional coactivator and phosphatase 1
F10 coagulation factor X
F11 coagulation factor XI
F12 coagulation factor XII (Hageman factor)
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
FADD Fas (TNFRSF6)-associated via death domain
FAM20A family with sequence similarity 20, member A
FAM46A family with sequence similarity 46, member A
FANCA Fanconi anemia, complementation group A
FANCG Fanconi anemia, complementation group G
FAS Fas cell surface death receptor
FBLN1 fibulin 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FBP1 fructose-1,6-bisphosphatase 1
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
FECH ferrochelatase
FEN1 flap structure-specific endonuclease 1
FERMT1 fermitin family member 1
FERMT3 fermitin family member 3
FFAR4 free fatty acid receptor 4
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGG fibrinogen gamma chain
FH fumarate hydratase
FHIT fragile histidine triad
FLCN folliculin
FLNA filamin A, alpha
FLNB filamin B, beta
FLNC filamin C, gamma
FLT3 fms-related tyrosine kinase 3
FLT4 fms-related tyrosine kinase 4
FMR1 fragile X mental retardation 1
FN3K fructosamine 3 kinase
FOXA2 forkhead box A2
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FOXP2 forkhead box P2
FOXP3 forkhead box P3
FPGS folylpolyglutamate synthase
FRAS1 Fraser extracellular matrix complex subunit 1
FRK fyn-related Src family tyrosine kinase
FRMD7 FERM domain containing 7
FRZB frizzled-related protein
FSHR follicle stimulating hormone receptor
FTL ferritin, light polypeptide
FUS FUS RNA binding protein
FXN frataxin
FYN FYN proto-oncogene, Src family tyrosine kinase
FZD4 frizzled class receptor 4
G6PC2 glucose-6-phosphatase, catalytic, 2
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GADD45A growth arrest and DNA-damage-inducible, alpha
GALNS galactosamine (N-acetyl)-6-sulfatase
GAN gigaxonin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCH1 GTP cyclohydrolase 1
GCK glucokinase (hexokinase 4)
GCM2 glial cells missing homolog 2 (Drosophila)
GFAP glial fibrillary acidic protein
GGCX gamma-glutamyl carboxylase
GH1 growth hormone 1
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GJA3 gap junction protein, alpha 3, 46kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GJD2 gap junction protein, delta 2, 36kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNMT glycine N-methyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNRH2 gonadotropin-releasing hormone 2
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GPI glucose-6-phosphate isomerase
GPR143 G protein-coupled receptor 143
GPX1 glutathione peroxidase 1
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRK1 G protein-coupled receptor kinase 1
GRM3 glutamate receptor, metabotropic 3
GRN granulin
GSC goosecoid homeobox
GSK3B glycogen synthase kinase 3 beta
GSTM1 glutathione S-transferase mu 1
GSTO1 glutathione S-transferase omega 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GYPB glycophorin B (MNS blood group)
GYPC glycophorin C (Gerbich blood group)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
H2AFB2 H2A histone family, member B2
H3F3A H3 histone, family 3A
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HAVCR1 hepatitis A virus cellular receptor 1
HAX1 HCLS1 associated protein X-1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBS1L HBS1-like translational GTPase
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HES1 hes family bHLH transcription factor 1
HESX1 HESX homeobox 1
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGD homogentisate 1,2-dioxygenase
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-E major histocompatibility complex, class I, E
HLA-G major histocompatibility complex, class I, G
HMBS hydroxymethylbilane synthase
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
HMX1 H6 family homeobox 1
HMX3 H6 family homeobox 3
HNF1A HNF1 homeobox A
HNF4A hepatocyte nuclear factor 4, alpha
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2)
HNRNPF heterogeneous nuclear ribonucleoprotein F
HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 (H)
HNRNPK heterogeneous nuclear ribonucleoprotein K
HNRNPL heterogeneous nuclear ribonucleoprotein L
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HOOK3 hook microtubule-tethering protein 3
HOXA9 homeobox A9
HOXD13 homeobox D13
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPS1 Hermansky-Pudlak syndrome 1
HPS6 Hermansky-Pudlak syndrome 6
HPX hemopexin
HR hair growth associated
HRH3 histamine receptor H3
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
HSF4 heat shock transcription factor 4
HTT huntingtin
ICA1 islet cell autoantigen 1, 69kDa
ICAM1 intercellular adhesion molecule 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDO1 indoleamine 2,3-dioxygenase 1
IDS iduronate 2-sulfatase
IFNA1 interferon, alpha 1
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFBP7 insulin-like growth factor binding protein 7
IGHMBP2 immunoglobulin mu binding protein 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL10 interleukin 10
IL12A interleukin 12A
IL12RB1 interleukin 12 receptor, beta 1
IL13 interleukin 13
IL17RA interleukin 17 receptor A
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL23R interleukin 23 receptor
IL33 interleukin 33
IL4R interleukin 4 receptor
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
IL7 interleukin 7
IL7R interleukin 7 receptor
INF2 inverted formin, FH2 and WH2 domain containing
ING4 inhibitor of growth family, member 4
INHA inhibin, alpha
INS insulin
INSR insulin receptor
INVS inversin
IRAK1 interleukin-1 receptor-associated kinase 1
IRF5 interferon regulatory factor 5
IRF6 interferon regulatory factor 6
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
ITGA9 integrin, alpha 9
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
ITLN1 intelectin 1 (galactofuranose binding)
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JAG1 jagged 1
JAK2 Janus kinase 2
JAK3 Janus kinase 3
JPH3 junctophilin 3
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
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
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCTD7 potassium channel tetramerization domain containing 7
KDM5C lysine (K)-specific demethylase 5C
KDR kinase insert domain receptor
KEL Kell blood group, metallo-endopeptidase
KIF23 kinesin family member 23
KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF6 Kruppel-like factor 6
KLK12 kallikrein-related peptidase 12
KLK2 kallikrein-related peptidase 2
KLK3 kallikrein-related peptidase 3
KMT2A lysine (K)-specific methyltransferase 2A
KMT2E lysine (K)-specific methyltransferase 2E
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT12 keratin 12, type I
KRT14 keratin 14, type I
KRT3 keratin 3, type II
KRT4 keratin 4, type II
KRT5 keratin 5, type II
KRT9 keratin 9, type I
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA2 laminin, alpha 2
LAMP2 lysosomal-associated membrane protein 2
LCAT lecithin-cholesterol acyltransferase
LCK LCK proto-oncogene, Src family tyrosine kinase
LCT lactase
LDB3 LIM domain binding 3
LDLR low density lipoprotein receptor
LEF1 lymphoid enhancer-binding factor 1
LEMD3 LEM domain containing 3
LEO1 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
LEP leptin
LEPR leptin receptor
LGALS1 lectin, galactoside-binding, soluble, 1
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX3 LIM homeobox 3
LIG4 ligase IV, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPC lipase, hepatic
LIPH lipase, member H
LMNA lamin A/C
LOX lysyl oxidase
LOXL1 lysyl oxidase-like 1
LPL lipoprotein lipase
LRP1 low density lipoprotein receptor-related protein 1
LRRK2 leucine-rich repeat kinase 2
LTA lymphotoxin alpha
LTF lactotransferrin
LY96 lymphocyte antigen 96
LYST lysosomal trafficking regulator
LYZ lysozyme
MACROD2 MACRO domain containing 2
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEA11 melanoma antigen family A11
MAGED4B melanoma antigen family D4B
MAGOH mago-nashi homolog, proliferation-associated (Drosophila)
MAGOHB mago-nashi homolog B (Drosophila)
MAGT1 magnesium transporter 1
MAK male germ cell-associated kinase
MAML2 mastermind-like 2 (Drosophila)
MAOA monoamine oxidase A
MAP2K1 mitogen-activated protein kinase kinase 1
MAPRE3 microtubule-associated protein, RP/EB family, member 3
MAPT microtubule-associated protein tau
MAST2 microtubule associated serine/threonine kinase 2
MB myoglobin
MBD2 methyl-CpG binding domain protein 2
MBD3 methyl-CpG binding domain protein 3
MBL1P mannose-binding lectin (protein A) 1, pseudogene
MBL2 mannose-binding lectin (protein C) 2, soluble
MBNL1 muscleblind-like splicing regulator 1
MBNL2 muscleblind-like splicing regulator 2
MCFD2 multiple coagulation factor deficiency 2
MCL1 myeloid cell leukemia 1
MCOLN1 mucolipin 1
MECOM MDS1 and EVI1 complex locus
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED15 mediator complex subunit 15
MEF2A myocyte enhancer factor 2A
MEFV Mediterranean fever
MEN1 multiple endocrine neoplasia I
MERTK MER proto-oncogene, tyrosine kinase
MET MET proto-oncogene, receptor tyrosine kinase
MGAM maltase-glucoamylase
MICA MHC class I polypeptide-related sequence A
MICB MHC class I polypeptide-related sequence B
MID1 midline 1
MIR122 microRNA 122
MIR132 microRNA 132
MITF microphthalmia-associated transcription factor
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MLH1 mutL homolog 1
MMP20 matrix metallopeptidase 20
MMP9 matrix metallopeptidase 9
MPL MPL proto-oncogene, thrombopoietin receptor
MPP1 membrane protein, palmitoylated 1, 55kDa
MPZ myelin protein zero
MRC1 mannose receptor, C type 1
MRLN myoregulin
MSH2 mutS homolog 2
MST1R macrophage stimulating 1 receptor
MSTN myostatin
MSX1 msh homeobox 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MUC1 mucin 1, cell surface associated
MUC4 mucin 4, cell surface associated
MUTYH mutY homolog
MVK mevalonate kinase
MYBPC3 myosin binding protein C, cardiac
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYLK myosin light chain kinase
MYO15A myosin XVA
MYO5A myosin VA (heavy chain 12, myoxin)
MYO6 myosin VI
MYO7A myosin VIIA
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
MYOM1 myomesin 1
MYOT myotilin
NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1)
NAGA N-acetylgalactosaminidase, alpha-
NAIP NLR family, apoptosis inhibitory protein
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NBAS neuroblastoma amplified sequence
NBN nibrin
NCAM1 neural cell adhesion molecule 1
NCF2 neutrophil cytosolic factor 2
NCOA1 nuclear receptor coactivator 1
NCSTN nicastrin
NDE1 nudE neurodevelopment protein 1
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NEB nebulin
NEWENTRY Record to support submission of GeneRIFs for a gene not in Gene (human; man).
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NKX2-1 NK2 homeobox 1
NLRP3 NLR family, pyrin domain containing 3
NLRP7 NLR family, pyrin domain containing 7
NOD1 nucleotide-binding oligomerization domain containing 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOS1 nitric oxide synthase 1 (neuronal)
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOTCH3 notch 3
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPPB natriuretic peptide B
NQO1 NAD(P)H dehydrogenase, quinone 1
NQO2 NAD(P)H dehydrogenase, quinone 2
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
NR4A2 nuclear receptor subfamily 4, group A, member 2
NR4A3 nuclear receptor subfamily 4, group A, member 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRG1 neuregulin 1
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NTF3 neurotrophin 3
NUP98 nucleoporin 98kDa
NUTM1 NUT midline carcinoma, family member 1
OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
ODAM odontogenic, ameloblast asssociated
OFD1 oral-facial-digital syndrome 1
OGG1 8-oxoguanine DNA glycosylase
OPA1 optic atrophy 1 (autosomal dominant)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPRM1 opioid receptor, mu 1
ORMDL3 ORMDL sphingolipid biosynthesis regulator 3
OTOF otoferlin
OXCT1 3-oxoacid CoA transferase 1
OXR1 oxidation resistance 1
PABPC1P2 poly(A) binding protein, cytoplasmic 1 pseudogene 2
PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
PAH phenylalanine hydroxylase
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PARP1 poly (ADP-ribose) polymerase 1
PAX2 paired box 2
PAX5 paired box 5
PAX6 paired box 6
PAX8 paired box 8
PAX9 paired box 9
PCA3 prostate cancer associated 3 (non-protein coding)
PCBP2 poly(rC) binding protein 2
PCBP3 poly(rC) binding protein 3
PCDH15 protocadherin-related 15
PCSK9 proprotein convertase subtilisin/kexin type 9
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PECAM1 platelet/endothelial cell adhesion molecule 1
PER3 period circadian clock 3
PGBD3 piggyBac transposable element derived 3
PGR progesterone receptor
PHACTR3 phosphatase and actin regulator 3
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF6 PHD finger protein 6
PHOX2B paired-like homeobox 2b
PICALM phosphatidylinositol binding clathrin assembly protein
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PINK1 PTEN induced putative kinase 1
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKLR pyruvate kinase, liver and RBC
PKP2 plakophilin 2
PKP3 plakophilin 3
PLA2G4C phospholipase A2, group IVC (cytosolic, calcium-independent)
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PLAA phospholipase A2-activating protein
PLAU plasminogen activator, urokinase
PLEC plectin
PLEK pleckstrin
PLP1 proteolipid protein 1
PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1
PML promyelocytic leukemia
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNKD paroxysmal nonkinesigenic dyskinesia
PNPLA2 patatin-like phospholipase domain containing 2
PNPO pyridoxamine 5'-phosphate oxidase
POLH polymerase (DNA directed), eta
POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa
POMC proopiomelanocortin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
PON1 paraoxonase 1
POU1F1 POU class 1 homeobox 1
POU2F1 POU class 2 homeobox 1
POU2F2 POU class 2 homeobox 2
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PPOX protoporphyrinogen oxidase
PQBP1 polyglutamine binding protein 1
PRDM9 PR domain containing 9
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCG protein kinase C, gamma
PRLR prolactin receptor
PRNP prion protein
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROS1 protein S (alpha)
PRPF31 pre-mRNA processing factor 31
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRSS1 protease, serine, 1 (trypsin 1)
PSEN1 presenilin 1
PSEN2 presenilin 2
PSIP1 PC4 and SFRS1 interacting protein 1
PSMB7 proteasome (prosome, macropain) subunit, beta type, 7
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTBP1 polypyrimidine tract binding protein 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTH parathyroid hormone
PTK6 protein tyrosine kinase 6
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRD protein tyrosine phosphatase, receptor type, D
PTPRS protein tyrosine phosphatase, receptor type, S
RAB27A RAB27A, member RAS oncogene family
RAD51 RAD51 recombinase
RAG1 recombination activating gene 1
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RB1 retinoblastoma 1
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2
RBM20 RNA binding motif protein 20
RBM4 RNA binding motif protein 4
RBM5 RNA binding motif protein 5
RBM8A RNA binding motif protein 8A
RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1
RCVRN recoverin
REEP1 receptor accessory protein 1
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RELN reelin
REST RE1-silencing transcription factor
RET ret proto-oncogene
RETN resistin
RFT1 RFT1 homolog (S. cerevisiae)
RHCE Rh blood group, CcEe antigens
RHD Rh blood group, D antigen
RHO rhodopsin
RHOBTB2 Rho-related BTB domain containing 2
RLBP1 retinaldehyde binding protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RPGR retinitis pigmentosa GTPase regulator
RRN3 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)
RS1 retinoschisin 1
RSPO4 R-spondin 4
RSU1 Ras suppressor protein 1
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SAA1 serum amyloid A1
SACK1H scaffolding CK1 anchoring protein H
SACS sacsin molecular chaperone
SAG S-antigen; retina and pineal gland (arrestin)
SALL4 spalt-like transcription factor 4
SATB1 SATB homeobox 1
SBDS Shwachman-Bodian-Diamond syndrome
SCARB1 scavenger receptor class B, member 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SEPN1 selenoprotein N, 1
SEPT9 septin 9
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SF3B1 splicing factor 3b, subunit 1, 155kDa
SFPQ splicing factor proline/glutamine-rich
SFTPA1 surfactant protein A1
SFTPA2 surfactant protein A2
SFTPB surfactant protein B
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCE sarcoglycan, epsilon
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SH2D1A SH2 domain containing 1A
SH3BP2 SH3-domain binding protein 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHBG sex hormone-binding globulin
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SLC14A2 solute carrier family 14 (urea transporter), member 2
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SLURP1 secreted LY6/PLAUR domain containing 1
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMOC2 SPARC related modular calcium binding 2
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMPX small muscle protein, X-linked
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
SOCS1 suppressor of cytokine signaling 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SP1 Sp1 transcription factor
SP110 SP110 nuclear body protein
SP2 Sp2 transcription factor
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPINK7 serine peptidase inhibitor, Kazal type 7 (putative)
SPTA1 spectrin, alpha, erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRRM1 serine/arginine repetitive matrix 1
SRSF1 serine/arginine-rich splicing factor 1
SRSF11 serine/arginine-rich splicing factor 11
SRSF2 serine/arginine-rich splicing factor 2
SRSF3 serine/arginine-rich splicing factor 3
SRSF4 serine/arginine-rich splicing factor 4
SRSF5 serine/arginine-rich splicing factor 5
SRSF6 serine/arginine-rich splicing factor 6
SRSF7 serine/arginine-rich splicing factor 7
SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1
SSTR2 somatostatin receptor 2
SSX1 synovial sarcoma, X breakpoint 1
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STK11 serine/threonine kinase 11
STK24 serine/threonine kinase 24
STK25 serine/threonine kinase 25
STOX1 storkhead box 1
STX16 syntaxin 16
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
SYNGR1 synaptogyrin 1
TACR3 tachykinin receptor 3
TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa
TAPBP TAP binding protein (tapasin)
TARDBP TAR DNA binding protein
TAT tyrosine aminotransferase
TAZ tafazzin
TBX3 T-box 3
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TDH L-threonine dehydrogenase (pseudogene)
TECTA tectorin alpha
TEK TEK tyrosine kinase, endothelial
TENM4 teneurin transmembrane protein 4
TERT telomerase reverse transcriptase
TF transferrin
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFCP2 transcription factor CP2
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 1
THADA thyroid adenoma associated
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1
TIMP3 TIMP metallopeptidase inhibitor 3
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TK2 thymidine kinase 2, mitochondrial
TLL1 tolloid-like 1
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TMC1 transmembrane channel-like 1
TMEM173 transmembrane protein 173
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNNT3 troponin T type 3 (skeletal, fast)
TOP1 topoisomerase (DNA) I
TOR1A torsin family 1, member A (torsin A)
TOR1AIP1 torsin A interacting protein 1
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TP53BP2 tumor protein p53 binding protein 2
TP53I3 tumor protein p53 inducible protein 3
TP53INP2 tumor protein p53 inducible nuclear protein 2
TP63 tumor protein p63
TP73 tumor protein p73
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TPMT thiopurine S-methyltransferase
TPP1 tripeptidyl peptidase I
TPR translocated promoter region, nuclear basket protein
TRA2A transformer 2 alpha homolog (Drosophila)
TRA2B transformer 2 beta homolog (Drosophila)
TRAPPC2 trafficking protein particle complex 2
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TRPS1 trichorhinophalangeal syndrome I
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSHB thyroid stimulating hormone, beta
TSPY1 testis specific protein, Y-linked 1
TTBK2 tau tubulin kinase 2
TTC12 tetratricopeptide repeat domain 12
TTC8 tetratricopeptide repeat domain 8
TTN titin
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUBB1 tubulin, beta 1 class VI
TYMP thymidine phosphorylase
U2AF2 U2 small nuclear RNA auxiliary factor 2
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UBR5 ubiquitin protein ligase E3 component n-recognin 5
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UCMA upper zone of growth plate and cartilage matrix associated
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9
UMOD uromodulin
UPF1 UPF1 regulator of nonsense transcripts homolog (yeast)
UPF2 UPF2 regulator of nonsense transcripts homolog (yeast)
USP9Y ubiquitin specific peptidase 9, Y-linked
VAMP7 vesicle-associated membrane protein 7
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VAV3 vav 3 guanine nucleotide exchange factor
VCAN versican
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIP vasoactive intestinal peptide
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WASF3 WAS protein family, member 3
WDR62 WD repeat domain 62
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WIBG within bgcn homolog (Drosophila)
WISP3 WNT1 inducible signaling pathway protein 3
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4
WNT10A wingless-type MMTV integration site family, member 10A
WNT7A wingless-type MMTV integration site family, member 7A
WNT9B wingless-type MMTV integration site family, member 9B
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XK X-linked Kx blood group
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
YBX1 Y box binding protein 1
YTHDC1 YTH domain containing 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB33 zinc finger and BTB domain containing 33
ZEB1 zinc finger E-box binding homeobox 1
ZEB2 zinc finger E-box binding homeobox 2
ZMPSTE24 zinc metallopeptidase STE24
ZNF268 zinc finger protein 268
ZNF469 zinc finger protein 469
ZPBP2 zona pellucida binding protein 2