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Binding
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Protein binding
Protein binding
ABCA1
: ATP-binding cassette, sub-family A (ABC1), member 1
ABCD1
: ATP-binding cassette, sub-family D (ALD), member 1
ACAT1
: acetyl-Coenzyme A acetyltransferase 1
ACTG1
: actin, gamma 1
ACVR1
: activin A receptor, type I
ACVRL1
: activin A receptor type II-like 1
ADA
: adenosine deaminase
ADAMTS13
: ADAM metallopeptidase with thrombospondin type 1 motif, 13
AGXT
: alanine-glyoxylate aminotransferase
AHCY
: adenosylhomocysteinase
AIRE
: autoimmune regulator
ALAS2
: aminolevulinate, delta-, synthase 2
ALDH5A1
: aldehyde dehydrogenase 5 family, member A1
ALS2
: amyotrophic lateral sclerosis 2 (juvenile)
AMELX
: amelogenin (amelogenesis imperfecta 1, X-linked)
ANG
: angiogenin, ribonuclease, RNase A family, 5
ANK2
: ankyrin 2, neuronal
ANTXR2
: anthrax toxin receptor 2
APC
: adenomatous polyposis coli
APOB
: apolipoprotein B (including Ag(x) antigen)
APOE
: apolipoprotein E
APP
: amyloid beta (A4) precursor protein
APTX
: aprataxin
AR
: androgen receptor
ASS1
: argininosuccinate synthetase 1
ATG16L1
: ATG16 autophagy related 16-like 1 (S. cerevisiae)
ATM
: ataxia telangiectasia mutated
ATN1
: atrophin 1
ATP2A2
: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP6V0A2
: ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A
: ATPase, Cu++ transporting, alpha polypeptide
ATP7B
: ATPase, Cu++ transporting, beta polypeptide
ATRX
: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
BARD1
: BRCA1 associated RING domain 1
BCKDHB
: branched chain keto acid dehydrogenase E1, beta polypeptide
BCOR
: BCL6 co-repressor
BLM
: Bloom syndrome, RecQ helicase-like
BMPR1A
: bone morphogenetic protein receptor, type IA
BMPR2
: bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF
: v-raf murine sarcoma viral oncogene homolog B1
BRCA1
: breast cancer 1, early onset
BRCA2
: breast cancer 2, early onset
BRIP1
: BRCA1 interacting protein C-terminal helicase 1
BTK
: Bruton agammaglobulinemia tyrosine kinase
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
CACNB4
: calcium channel, voltage-dependent, beta 4 subunit
CCM2
: cerebral cavernous malformation 2
CD40LG
: CD40 ligand
CDAN1
: congenital dyserythropoietic anemia, type I
CDH1
: cadherin 1, type 1, E-cadherin (epithelial)
CDH23
: cadherin-like 23
CDKL5
: cyclin-dependent kinase-like 5
CDKN1C
: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CFTR
: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHEK2
: CHK2 checkpoint homolog (S. pombe)
CHN1
: chimerin (chimaerin) 1
CLDN14
: claudin 14
CLN3
: ceroid-lipofuscinosis, neuronal 3
CNBP
: CCHC-type zinc finger, nucleic acid binding protein
COL11A1
: collagen, type XI, alpha 1
COL11A2
: collagen, type XI, alpha 2
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)
COL5A1
: collagen, type V, alpha 1
COL7A1
: collagen, type VII, alpha 1
COMT
: catechol-O-methyltransferase
CPS1
: carbamoyl-phosphate synthetase 1, mitochondrial
CREBBP
: CREB binding protein
CSTB
: cystatin B (stefin B)
CTSA
: cathepsin A
CUL7
: cullin 7
CYP1B1
: cytochrome P450, family 1, subfamily B, polypeptide 1
D2HGDH
: D-2-hydroxyglutarate dehydrogenase
DCTN1
: dynactin 1 (p150, glued homolog, Drosophila)
DCX
: doublecortin
DDC
: dopa decarboxylase (aromatic L-amino acid decarboxylase)
DHCR7
: 7-dehydrocholesterol reductase
DMD
: dystrophin
DMPK
: dystrophia myotonica-protein kinase
DNM2
: dynamin 2
DRD3
: dopamine receptor D3
DSPP
: dentin sialophosphoprotein
EDA
: ectodysplasin A
EDAR
: ectodysplasin A receptor
EDARADD
: EDAR-associated death domain
EDN3
: endothelin 3
EFEMP2
: EGF-containing fibulin-like extracellular matrix protein 2
EGR2
: early growth response 2 (Krox-20 homolog, Drosophila)
EIF2B1
: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2
: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3
: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4
: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5
: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EMD
: emerin
ENG
: endoglin
EP300
: E1A binding protein p300
EPM2A
: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERAP1
: endoplasmic reticulum aminopeptidase 1
ERBB2
: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
ERCC6
: excision repair cross-complementing rodent repair deficiency, complementation group 6
ERCC8
: excision repair cross-complementing rodent repair deficiency, complementation group 8
EXT1
: exostoses (multiple) 1
EXT2
: exostoses (multiple) 2
F12
: coagulation factor XII (Hageman factor)
F2
: coagulation factor II (thrombin)
F8
: coagulation factor VIII, procoagulant component
FBLN5
: fibulin 5
FBN1
: fibrillin 1
FECH
: ferrochelatase (protoporphyria)
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
FLCN
: folliculin
FLNA
: filamin A, alpha
FLT4
: fms-related tyrosine kinase 4
FMR1
: fragile X mental retardation 1
FOXL2
: forkhead box L2
FOXP3
: forkhead box P3
FTL
: ferritin, light polypeptide
FXN
: frataxin
G6PD
: glucose-6-phosphate dehydrogenase
GALE
: UDP-galactose-4-epimerase
GAN
: gigaxonin
GBA
: glucosidase, beta; acid (includes glucosylceramidase)
GCDH
: glutaryl-Coenzyme A dehydrogenase
GCH1
: GTP cyclohydrolase 1
GFAP
: glial fibrillary acidic protein
GJA1
: gap junction protein, alpha 1, 43kDa
GLA
: galactosidase, alpha
GLI3
: GLI family zinc finger 3
GNAS
: GNAS complex locus
GNPTG
: N-acetylglucosamine-1-phosphate transferase, gamma subunit
GPR56
: G protein-coupled receptor 56
GRHPR
: glyoxylate reductase/hydroxypyruvate reductase
GTF2I
: general transcription factor IIi
GTF2IRD1
: GTF2I repeat domain containing 1
HBA2
: hemoglobin, alpha 2
HBB
: hemoglobin, beta
HEXA
: hexosaminidase A (alpha polypeptide)
HEXB
: hexosaminidase B (beta polypeptide)
HPRT1
: hypoxanthine phosphoribosyltransferase 1
HRAS
: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
HSD17B10
: hydroxysteroid (17-beta) dehydrogenase 10
HSPB1
: heat shock 27kDa protein 1
HTT
: huntingtin
IGF2
: insulin-like growth factor 2 (somatomedin A)
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
IL1A
: interleukin 1, alpha
IL2RG
: interleukin 2 receptor, gamma (severe combined immunodeficiency)
ITGB4
: integrin, beta 4
JAG1
: jagged 1 (Alagille syndrome)
JPH3
: junctophilin 3
KCNJ2
: potassium inwardly-rectifying channel, subfamily J, member 2
KCNQ1
: potassium voltage-gated channel, KQT-like subfamily, member 1
KIF1B
: kinesin family member 1B
KRAS
: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
KRIT1
: KRIT1, ankyrin repeat containing
KRT14
: keratin 14
KRT16
: keratin 16
KRT17
: keratin 17
KRT5
: keratin 5
KRT6A
: keratin 6A
LDLR
: low density lipoprotein receptor
LDLRAP1
: low density lipoprotein receptor adaptor protein 1
LETM1
: leucine zipper-EF-hand containing transmembrane protein 1
LIMK1
: LIM domain kinase 1
LITAF
: lipopolysaccharide-induced TNF factor
LMNA
: lamin A/C
LMX1B
: LIM homeobox transcription factor 1, beta
LPL
: lipoprotein lipase
LRP2
: low density lipoprotein-related protein 2
LRRK2
: leucine-rich repeat kinase 2
LYST
: lysosomal trafficking regulator
MAP2K1
: mitogen-activated protein kinase kinase 1
MAP2K2
: mitogen-activated protein kinase kinase 2
MECP2
: methyl CpG binding protein 2 (Rett syndrome)
MED12
: mediator complex subunit 12
MEFV
: Mediterranean fever
MEN1
: multiple endocrine neoplasia I
MID1
: midline 1 (Opitz/BBB syndrome)
MKKS
: McKusick-Kaufman syndrome
MLH1
: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
MMP20
: matrix metallopeptidase 20
MSH2
: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
MSH6
: mutS homolog 6 (E. coli)
MSTN
: myostatin
MSX2
: msh homeobox 2
MTHFR
: 5,10-methylenetetrahydrofolate reductase (NADPH)
MTMR2
: myotubularin related protein 2
MT-ND1
: mitochondrially encoded NADH dehydrogenase 1
MT-ND4L
: mitochondrially encoded NADH dehydrogenase 4L
MTR
: 5-methyltetrahydrofolate-homocysteine methyltransferase
MUTYH
: mutY homolog (E. coli)
MYCN
: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
MYO6
: myosin VI
MYO7A
: myosin VIIA
NBN
: nibrin
NCF1
: neutrophil cytosolic factor 1
NDP
: Norrie disease (pseudoglioma)
NDRG1
: N-myc downstream regulated 1
NEFL
: neurofilament, light polypeptide
NF1
: neurofibromin 1
NLRP12
: NLR family, pyrin domain containing 12
NLRP3
: NLR family, pyrin domain containing 3
NOD2
: nucleotide-binding oligomerization domain containing 2
NOTCH2
: Notch homolog 2 (Drosophila)
NOTCH3
: Notch homolog 3 (Drosophila)
NPC1
: Niemann-Pick disease, type C1
NPC2
: Niemann-Pick disease, type C2
NR0B1
: nuclear receptor subfamily 0, group B, member 1
NR5A1
: nuclear receptor subfamily 5, group A, member 1
NSD1
: nuclear receptor binding SET domain protein 1
OAT
: ornithine aminotransferase (gyrate atrophy)
PABPN1
: poly(A) binding protein, nuclear 1
PAFAH1B1
: platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
PANK2
: pantothenate kinase 2
PARK2
: Parkinson disease (autosomal recessive, juvenile) 2, parkin
PARK7
: Parkinson disease (autosomal recessive, early onset) 7
PAX3
: paired box 3
PAX6
: paired box 6
PAX8
: paired box 8
PCBD1
: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCSK9
: proprotein convertase subtilisin/kexin type 9
PDCD10
: programmed cell death 10
PHOX2B
: paired-like homeobox 2b
PIGA
: phosphatidylinositol glycan anchor biosynthesis, class A
PKD1
: polycystic kidney disease 1 (autosomal dominant)
PKD2
: polycystic kidney disease 2 (autosomal dominant)
PKHD1
: polycystic kidney and hepatic disease 1 (autosomal recessive)
PLOD1
: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
PMS2
: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PPP1R12A
: protein phosphatase 1, regulatory (inhibitor) subunit 12A
PRKAG2
: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRNP
: prion protein
PROC
: protein C (inactivator of coagulation factors Va and VIIIa)
PROK2
: prokineticin 2
PRX
: periaxin
PSEN1
: presenilin 1
PSEN2
: presenilin 2 (Alzheimer disease 4)
PTCH1
: patched homolog 1 (Drosophila)
PTEN
: phosphatase and tensin homolog
PTPN11
: protein tyrosine phosphatase, non-receptor type 11
RAB7A
: RAB7A, member RAS oncogene family
RAD50
: RAD50 homolog (S. cerevisiae)
RAD51
: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
RAF1
: v-raf-1 murine leukemia viral oncogene homolog 1
RB1
: retinoblastoma 1
RPL11
: ribosomal protein L11
RPL35A
: ribosomal protein L35a
RPL5
: ribosomal protein L5
RPS19
: ribosomal protein S19
RPS24
: ribosomal protein S24
RPS7
: ribosomal protein S7
RUNX2
: runt-related transcription factor 2
RYR1
: ryanodine receptor 1 (skeletal)
SAA1
: serum amyloid A1
SBDS
: Shwachman-Bodian-Diamond syndrome
SBF2
: SET binding factor 2
SCN5A
: sodium channel, voltage-gated, type V, alpha subunit
SEPN1
: selenoprotein N, 1
SEPT9
: septin 9
SERPINA1
: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINC1
: serpin peptidase inhibitor, clade C (antithrombin), member 1
SH3BP2
: SH3-domain binding protein 2
SHANK3
: SH3 and multiple ankyrin repeat domains 3
SIL1
: SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
SIX1
: SIX homeobox 1
SIX5
: SIX homeobox 5
SLC5A1
: solute carrier family 5 (sodium/glucose cotransporter), member 1
SMAD4
: SMAD family member 4
SMC1A
: structural maintenance of chromosomes 1A
SMC3
: structural maintenance of chromosomes 3
SMN2
: survival of motor neuron 2, centromeric
SNCA
: synuclein, alpha (non A4 component of amyloid precursor)
SNCAIP
: synuclein, alpha interacting protein
SOD1
: superoxide dismutase 1, soluble
SOS1
: son of sevenless homolog 1 (Drosophila)
SOX10
: SRY (sex determining region Y)-box 10
SPAST
: spastin
SPG7
: spastic paraplegia 7 (pure and complicated autosomal recessive)
SRY
: sex determining region Y
STAT3
: signal transducer and activator of transcription 3 (acute-phase response factor)
STK11
: serine/threonine kinase 11
SUCLA2
: succinate-CoA ligase, ADP-forming, beta subunit
TAF1
: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TBP
: TATA box binding protein
TBX1
: T-box 1
TBX5
: T-box 5
TCOF1
: Treacher Collins-Franceschetti syndrome 1
TEK
: TEK tyrosine kinase, endothelial
TFAP2B
: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1
: transforming growth factor, beta 1
TGFBR2
: transforming growth factor, beta receptor II (70/80kDa)
TH
: tyrosine hydroxylase
TIMM8A
: translocase of inner mitochondrial membrane 8 homolog A (yeast)
TNXB
: tenascin XB
TOR1A
: torsin family 1, member A (torsin A)
TP53
: tumor protein p53
TRAPPC2
: trafficking protein particle complex 2
TRIOBP
: TRIO and F-actin binding protein
TSC1
: tuberous sclerosis 1
TSC2
: tuberous sclerosis 2
TSHB
: thyroid stimulating hormone, beta
TTN
: titin
TWIST1
: twist homolog 1 (Drosophila)
TYMP
: thymidine phosphorylase
TYR
: tyrosinase (oculocutaneous albinism IA)
TYROBP
: TYRO protein tyrosine kinase binding protein
TYRP1
: tyrosinase-related protein 1
UBE3A
: ubiquitin protein ligase E3A
UCHL1
: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
USH1C
: Usher syndrome 1C (autosomal recessive, severe)
USH2A
: Usher syndrome 2A (autosomal recessive, mild)
USP9Y
: ubiquitin specific peptidase 9, Y-linked
VAPB
: VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP
: valosin-containing protein
VHL
: von Hippel-Lindau tumor suppressor
VLDLR
: very low density lipoprotein receptor
VPS13A
: vacuolar protein sorting 13 homolog A (S. cerevisiae)
VWF
: von Willebrand factor
WAS
: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
WFS1
: Wolfram syndrome 1 (wolframin)
WRN
: Werner syndrome, RecQ helicase-like
XK
: X-linked Kx blood group (McLeod syndrome)
YARS
: tyrosyl-tRNA synthetase
YWHAE
: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
ZAP70
: zeta-chain (TCR) associated protein kinase 70kDa
ZEB2
: zinc finger E-box binding homeobox 2
Source:
Gene Ontology
Consortium
(June 2009).
Published: November 20, 2009