OCA2 |
- 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)