abnormal coat/hair pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description irregular or unusual pigmentation of the hair (Mammalian Phenotype Ontology, MP_0002075)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002075
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Genes

146 gene mutations causing the abnormal coat/hair pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
ARCN1 archain 1
ASIP agouti signaling protein
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATR ATR serine/threonine kinase
ATRN attractin
BCL2 B-cell CLL/lymphoma 2
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
BRCA1 breast cancer 1, early onset
BTD biotinidase
CASR calcium-sensing receptor
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CISD2 CDGSH iron sulfur domain 2
COL1A1 collagen, type I, alpha 1
CORIN corin, serine peptidase
CUX1 cut-like homeobox 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCT dopachrome tautomerase
DOCK7 dedicator of cytokinesis 7
DRD2 dopamine receptor D2
DTNBP1 dystrobrevin binding protein 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
EIF3C eukaryotic translation initiation factor 3, subunit C
ELOVL3 ELOVL fatty acid elongase 3
ERCC2 excision repair cross-complementation group 2
ERP44 endoplasmic reticulum protein 44
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXN1 forkhead box N1
FREM2 FRAS1 related extracellular matrix protein 2
FZD4 frizzled class receptor 4
GATA3 GATA binding protein 3
GGT1 gamma-glutamyltransferase 1
GLI3 GLI family zinc finger 3
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GPC3 glypican 3
GPR161 G protein-coupled receptor 161
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
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
KIAA1549L KIAA1549-like
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KRT17 keratin 17, type I
KRT4 keratin 4, type II
L1CAM L1 cell adhesion molecule
LEF1 lymphoid enhancer-binding factor 1
LIPH lipase, member H
LMNA lamin A/C
LMX1A LIM homeobox transcription factor 1, alpha
LYST lysosomal trafficking regulator
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
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
MYO10 myosin X
MYO5A myosin VA (heavy chain 12, myoxin)
MYSM1 Myb-like, SWIRM and MPN domains 1
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
PAH phenylalanine hydroxylase
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
PEPD peptidase D
PER2 period circadian clock 2
PFAS phosphoribosylformylglycinamidine synthase
PLXNB2 plexin B2
PMEL premelanosome protein
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PRIMPOL primase and polymerase (DNA-directed)
PTCH1 patched 1
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
RECQL4 RecQ protein-like 4
RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
RLBP1 retinaldehyde binding protein 1
RPL24 ribosomal protein L24
RPL38 ribosomal protein L38
RPS7 ribosomal protein S7
RUVBL2 RuvB-like AAA ATPase 2
RXRA retinoid X receptor, alpha
SEA S13 erythroblastosis (avian) oncogene homolog
SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLC45A2 solute carrier family 45, member 2
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11
SMOC1 SPARC related modular calcium binding 1
SNAI2 snail family zinc finger 2
SNX5 sorting nexin 5
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
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SUFU suppressor of fused homolog (Drosophila)
SZT2 seizure threshold 2 homolog (mouse)
TBX10 T-box 10
TBX15 T-box 15
TBX19 T-box 19
TMEM79 transmembrane protein 79
TP53 tumor protein p53
TRAPPC6A trafficking protein particle complex 6A
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
USF2 upstream transcription factor 2, c-fos interacting
VAC14 Vac14 homolog (S. cerevisiae)
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
ZDHHC21 zinc finger, DHHC-type containing 21
ZEB1 zinc finger E-box binding homeobox 1
ZIC2 Zic family member 2