Table 1

Human pigmentation gene identification and function

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

+

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

+

-

ADAMTS20

Belted

-

Disintegrin and metalloproteinase with thrombospondin

+

-

-

EGFR

Dsk5

-

Epidermal growth factor receptor

+

-

-

CORIN

'Dirty blonde'

-

Serine protease/modifier of agouti

+

-

-

OPRM1

-

-

Opioid receptor

+

-

-

NRG1e

-

-

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

+

-

-


aMouse coat color unless stated otherwise.

bMedaka fish.

cZebrafish.

dCanine.

eBiochemical/cellular.

Sturm and Duffy Genome Biology 2012 13:248   doi:10.1186/gb-2012-13-9-248