From: Human pigmentation genes under environmental selection
Gene | Animal color locusa | Human disease/phenotype | Protein | Candidate | GWAS | GWAS |
---|---|---|---|---|---|---|
TYR | Albino | OCA1 | Melanogenic enzyme | + | + | + |
OCA2 | Pink-eyed dilute | OCA2 | Membrane transporter | + | + | + |
TYRP1 | Brown | OCA3 | Melanogenic enzyme | Â | + | Â |
SLC45A2 | Underwhite/b-locusb | OCA4 | Membrane transporter (MATP) | + | + | + |
MC1R | Extension | Red hair | G-protein coupled receptor | + | + | + |
ASIP | Agouti | - | MC1R antagonist | + | + | + |
POMC | Pomc | Red hair | Proopiomelanocortin (POMC/α-MSH) | + | - | - |
DCT | Slaty | - | Melanogenic enzyme | + | - | - |
SLC24A5 | Goldenc | - | Membrane transporter (NCKX5) | + | + | + |
KITLG | Steel | FPHH | Growth factor (SCF) | + | + | + |
KIT | Dominant white spotting | Piebaldism | Receptor tyrosine kinase (c-Kit) | + | - | - |
IRF4 | - | - | Interferon regulatory factor-4 (IRF4) | - | + | + |
HBD3 | Black coatd | - | Antimicrobial peptide (β-defensin 3) | - | - | - |
SILV | Silver | - | Melanosomal protein (pMel17) | + | - | - |
TPCN2 | - | - | Two pore segment channel/ion transport (TPC2) | - | + | + |
MITF | Microphthalmia | Waardburg II | Transcription factor (MITF) | + | - | - |
MYO5A | Dilute | Usher syndrome | Myosin type Va | + | - | - |
DTNBP1 | Sandy | HPS7 | Lysosome-related organelles complex 1 (BLOC-1) (dysbindin) | + | - | - |
RAB27A | Ashen | Griscelli | Rab protein for melanosome transport | + | - | - |
ATRN | Mahogany | - | Attractin | + | - | - |
LYST | Beige | Chediak Higashi | Membrane protein | + | - | - |
MLPH | Leaden | Griscelli | Melanophilin | + | - | - |
HPS6 | - | HPS6 | BLOC-2 complex, HSP6 subunit | + | - | - |
TRPM1 | - | - | TRP cation channel | - | + | + |
ADAM17 | Adam17 | - | Disintegrin and metalloproteinase | + | Â | - |
ADAMTS20 | Belted | - | Disintegrin and metalloproteinase with thrombospondin | + | - | - |
EGFR | Dsk5 | - | Epidermal growth factor receptor | + | - | - |
CORIN | 'Dirty blonde' | - | Serine protease/modifier of agouti | + | - | - |
OPRM1 | - | - | Opioid receptor | + | - | - |
NRG1 e | - | - | Paracrine factor (neuregulin-1) | - | - | - |
BNC2 | Bonapartec | - | Zn finger protein (basonuclin-2) | + | + | + |
CTNS | Ctns -/- | Cystinosis | Cystine transporter (cystinosin) | + | - | - |
EDNRB | Piebald spotting | Hirshsprung 2 | G-protein coupled receptor | + | - | - |
EDN3 | Lethal spotting | Waardburg-Shah | Ligand for EDNRB | + | - | - |