• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
OCA2 (HGNC:8101) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
OCA2 melanosomal transmembrane protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
D15S12, P, EYCL3, EYCL2
Alias symbols
BEY2, EYCL, BEY, BEY1
%HI
62.33(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.86(Read more about gnomAD LOEUF score)
Cytoband
15q12-q13.1
Genomic Coordinates
GRCh37/hg19: chr15:28000021-28344461 NCBI Ensembl UCSC
GRCh38/hg38: chr15:27719008-28099315 NCBI Ensembl UCSC
MANE Select Transcript
NM_000275.3 ENST00000354638.8 (Read more about MANE Select)
Function
Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation (PubMed:25513726, PubMed:11310796, PubMed:15262401, PubMed:22234890). One of the components of the mammalian pigmentary system (PubMed:15262401, PubMed:18252222, PubMed:7601462). May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color (PubMe... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15425
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
04/28/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • oculocutaneous albinism type 2 Monarch
HI Evidence Comments:
Homozygous mutations in the OCA2 gene cause oculocutaneous albinism type 2

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)