pigmentation phenotype Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001186
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Genes

318 gene mutations causing the pigmentation phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACD adrenocortical dysplasia homolog (mouse)
ACER1 alkaline ceramidase 1
ACTN4 actinin, alpha 4
ADAM17 ADAM metallopeptidase domain 17
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
AEBP2 AE binding protein 2
ALDH16A1 aldehyde dehydrogenase 16 family, member A1
ANK1 ankyrin 1, erythrocytic
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APOE apolipoprotein E
ARCN1 archain 1
ARHGAP25 Rho GTPase activating protein 25
ARHGAP35 Rho GTPase activating protein 35
ASCL1 achaete-scute family bHLH transcription factor 1
ASIP agouti signaling protein
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATOX1 antioxidant 1 copper chaperone
ATP13A2 ATPase type 13A2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATR ATR serine/threonine kinase
ATRN attractin
B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3
BARX2 BARX homeobox 2
BBS4 Bardet-Biedl syndrome 4
BCL2 B-cell CLL/lymphoma 2
BEST1 bestrophin 1
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BMP7 bone morphogenetic protein 7
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BTD biotinidase
C1QTNF5 C1q and tumor necrosis factor related protein 5
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBX6 chromobox homolog 6
CCL13 chemokine (C-C motif) ligand 13
CCR2 chemokine (C-C motif) receptor 2
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CEP290 centrosomal protein 290kDa
CERS1 ceramide synthase 1
CFAP36 cilia and flagella associated protein 36
CFH complement factor H
CHM choroideremia (Rab escort protein 1)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CISD2 CDGSH iron sulfur domain 2
CLCN2 chloride channel, voltage-sensitive 2
CLCN7 chloride channel, voltage-sensitive 7
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
COL1A1 collagen, type I, alpha 1
CORIN corin, serine peptidase
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRB2 crumbs family member 2
CRX cone-rod homeobox
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CUX1 cut-like homeobox 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCC DCC netrin 1 receptor
DCT dopachrome tautomerase
DFNB31 deafness, autosomal recessive 31
DOCK7 dedicator of cytokinesis 7
DPH1 diphthamide biosynthesis 1
DRD2 dopamine receptor D2
DSG4 desmoglein 4
DST dystonin
DTNBP1 dystrobrevin binding protein 1
DUSP1 dual specificity phosphatase 1
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN3 endothelin 3
EDNRB endothelin receptor type B
EED embryonic ectoderm development
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGFR epidermal growth factor receptor
EIF3C eukaryotic translation initiation factor 3, subunit C
ELOVL3 ELOVL fatty acid elongase 3
ELOVL4 ELOVL fatty acid elongase 4
EN1 engrailed homeobox 1
ERCC2 excision repair cross-complementation group 2
ERP44 endoplasmic reticulum protein 44
FAM134C family with sequence similarity 134, member C
FAM151B family with sequence similarity 151, member B
FAS Fas cell surface death receptor
FAT1 FAT atypical cadherin 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXN1 forkhead box N1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
FZD4 frizzled class receptor 4
GAS1 growth arrest-specific 1
GATA3 GATA binding protein 3
GGT1 gamma-glutamyltransferase 1
GLI3 GLI family zinc finger 3
GLMP glycosylated lysosomal membrane protein
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNPAT glyceronephosphate O-acyltransferase
GPC3 glypican 3
GPNMB glycoprotein (transmembrane) nmb
GPR143 G protein-coupled receptor 143
GPR161 G protein-coupled receptor 161
GRM1 glutamate receptor, metabotropic 1
GRN granulin
GSK3A glycogen synthase kinase 3 alpha
GTF2IRD1 GTF2I repeat domain containing 1
HELLS helicase, lymphoid-specific
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL22RA1 interleukin 22 receptor, alpha 1
KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
KDM4D lysine (K)-specific demethylase 4D
KDM8 lysine (K)-specific demethylase 8
KIAA1549L KIAA1549-like
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KRT1 keratin 1, type II
KRT17 keratin 17, type I
KRT2 keratin 2, type II
KRT4 keratin 4, type II
KRT9 keratin 9, type I
KXD1 KxDL motif containing 1
L1CAM L1 cell adhesion molecule
LCA5 Leber congenital amaurosis 5
LDLR low density lipoprotein receptor
LEF1 lymphoid enhancer-binding factor 1
LIPH lipase, member H
LMNA lamin A/C
LMO7 LIM domain 7
LMX1A LIM homeobox transcription factor 1, alpha
LRP5 low density lipoprotein receptor-related protein 5
LRRK2 leucine-rich repeat kinase 2
LYST lysosomal trafficking regulator
MAB21L1 mab-21-like 1 (C. elegans)
MAB21L2 mab-21-like 2 (C. elegans)
MAGOH mago-nashi homolog, proliferation-associated (Drosophila)
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MBTPS1 membrane-bound transcription factor peptidase, site 1
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCM2 minichromosome maintenance complex component 2
MCOLN3 mucolipin 3
MDM1 Mdm1 nuclear protein homolog (mouse)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MED1 mediator complex subunit 1
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MITF microphthalmia-associated transcription factor
MKLN1 muskelin 1, intracellular mediator containing kelch motifs
MLANA melan-A
MLPH melanophilin
MPV17 MpV17 mitochondrial inner membrane protein
MPZL3 myelin protein zero-like 3
MRPL10 mitochondrial ribosomal protein L10
MSX2 msh homeobox 2
MYO10 myosin X
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
MYSM1 Myb-like, SWIRM and MPN domains 1
NAGLU N-acetylglucosaminidase, alpha
NCOA6 nuclear receptor coactivator 6
NDP Norrie disease (pseudoglioma)
NF1 neurofibromin 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NPHP4 nephronophthisis 4
NSDHL NAD(P) dependent steroid dehydrogenase-like
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OAT ornithine aminotransferase
OCA2 oculocutaneous albinism II
OSTM1 osteopetrosis associated transmembrane protein 1
OTX2 orthodenticle homeobox 2
PAH phenylalanine hydroxylase
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PDE3B phosphodiesterase 3B, cGMP-inhibited
PDGFB platelet-derived growth factor beta polypeptide
PDGFC platelet derived growth factor C
PDPK1 3-phosphoinositide dependent protein kinase 1
PEPD peptidase D
PER2 period circadian clock 2
PFAS phosphoribosylformylglycinamidine synthase
PHACTR4 phosphatase and actin regulator 4
PIAS2 protein inhibitor of activated STAT, 2
PITX3 paired-like homeodomain 3
PKNOX1 PBX/knotted 1 homeobox 1
PLXNB2 plexin B2
PMEL premelanosome protein
POLG polymerase (DNA directed), gamma
POLH polymerase (DNA directed), eta
POMC proopiomelanocortin
PPT1 palmitoyl-protein thioesterase 1
PRIMPOL primase and polymerase (DNA-directed)
PRKCZ protein kinase C, zeta
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PTCH1 patched 1
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTS 6-pyruvoyltetrahydropterin synthase
PXDN peroxidasin
RAB27A RAB27A, member RAS oncogene family
RAB38 RAB38, member RAS oncogene family
RABGGTA Rab geranylgeranyltransferase, alpha subunit
RAG1 recombination activating gene 1
RBP1 retinol binding protein 1, cellular
RECQL4 RecQ protein-like 4
RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RPL24 ribosomal protein L24
RPL27A ribosomal protein L27a
RPL38 ribosomal protein L38
RPS19 ribosomal protein S19
RPS20 ribosomal protein S20
RPS7 ribosomal protein S7
RS1 retinoschisin 1
RTBDN retbindin
RUNDC1 RUN domain containing 1
RUVBL2 RuvB-like AAA ATPase 2
RXRA retinoid X receptor, alpha
S1PR2 sphingosine-1-phosphate receptor 2
SEA S13 erythroblastosis (avian) oncogene homolog
SECISBP2 SECIS binding protein 2
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SETD4 SET domain containing 4
SETMAR SET domain and mariner transposase fusion gene
SIRT1 sirtuin 1
SIRT7 sirtuin 7
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SLC35F6 solute carrier family 35, member F6
SLC45A2 solute carrier family 45, member 2
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11
SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
SMOC1 SPARC related modular calcium binding 1
SNAI2 snail family zinc finger 2
SNX5 sorting nexin 5
SOD2 superoxide dismutase 2, mitochondrial
SOX10 SRY (sex determining region Y)-box 10
SOX18 SRY (sex determining region Y)-box 18
SOX2 SRY (sex determining region Y)-box 2
SPAG9 sperm associated antigen 9
SPNS2 spinster homolog 2 (Drosophila)
SPTA1 spectrin, alpha, erythrocytic 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
STRA6 stimulated by retinoic acid 6
SUFU suppressor of fused homolog (Drosophila)
SZT2 seizure threshold 2 homolog (mouse)
TAL1 T-cell acute lymphocytic leukemia 1
TBC1D32 TBC1 domain family, member 32
TBX10 T-box 10
TBX15 T-box 15
TBX19 T-box 19
TCF4 transcription factor 4
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TIMP3 TIMP metallopeptidase inhibitor 3
TLR4 toll-like receptor 4
TMC8 transmembrane channel-like 8
TMEM189 transmembrane protein 189
TMEM79 transmembrane protein 79
TP53 tumor protein p53
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAPPC6A trafficking protein particle complex 6A
TSFM Ts translation elongation factor, mitochondrial
TTC7A tetratricopeptide repeat domain 7A
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UNC119 unc-119 homolog (C. elegans)
UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
USF2 upstream transcription factor 2, c-fos interacting
USP4 ubiquitin specific peptidase 4 (proto-oncogene)
VAC14 Vac14 homolog (S. cerevisiae)
VLDLR very low density lipoprotein receptor
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
VSX2 visual system homeobox 2
XXYLT1 xyloside xylosyltransferase 1
YDJC YdjC homolog (bacterial)
ZDHHC21 zinc finger, DHHC-type containing 21
ZEB1 zinc finger E-box binding homeobox 1
ZIC2 Zic family member 2