OCA2 OCA2 melanosomal transmembrane protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: OCA2provided by HGNC
Official Full Name: OCA2 melanosomal transmembrane proteinprovided by HGNC
Primary source: HGNC:HGNC:8101
See related: Ensembl:ENSG00000104044 MIM:611409; AllianceGenome:HGNC:8101
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P; BEY; PED; BEY1; BEY2; BOCA; EYCL; HCL3; EYCL2; EYCL3; SHEP1; D15S12
Summary: This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression: Biased expression in skin (RPKM 1.8), thyroid (RPKM 1.2) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q12-q13.1

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (27719008..28099315, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (25461432..25841842, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (28000021..28344461, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Title: Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Title: Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
Title: Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets.
Title: Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets.
Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema.
Title: Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema.
Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
Title: Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
Title: A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.
Title: Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.
Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
Title: Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
[Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing].
Title: [Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing].

Submit: New GeneRIF Correction See all GeneRIFs (75)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES MedGen: C1856895 OMIM: 227220 GeneReviews: Not available	Compare labs
Tyrosinase-positive oculocutaneous albinism MedGen: C0268495 OMIM: 203200 GeneReviews: Oculocutaneous Albinism and Ocular Albinism Overview	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Gene network analysis in a pediatric cohort identifies novel lung function genes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of hair, eye and skin pigmentation in Europeans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association study for onset age in Parkinson disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Web-based, participant-driven studies yield novel genetic associations for common traits. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:593280 (e-PCR)
- UniSTS:157953

SHGC-12468 (e-PCR)
- UniSTS:69890

GDB:593284 (e-PCR)
- UniSTS:157954

SHGC-147969 (e-PCR)
- UniSTS:176131

GDB:593290 (e-PCR)
- UniSTS:157956

GDB:593293 (e-PCR)
- UniSTS:157957

GDB:593377 (e-PCR)
- UniSTS:157958

GDB:593381 (e-PCR)
- UniSTS:157959

GDB:593391 (e-PCR)
- UniSTS:157960

GDB:593466 (e-PCR)
- UniSTS:157962

D15S156 (e-PCR), detects polymorphism
- UniSTS:26123

GDB:593504 (e-PCR)
- UniSTS:157964

GDB:593534 (e-PCR)
- UniSTS:157965

GDB:593548 (e-PCR)
- UniSTS:157966

GDB:593558 (e-PCR)
- UniSTS:157967

GDB:593798 (e-PCR)
- UniSTS:157973

GDB:593820 (e-PCR)
- UniSTS:157975

GDB:593842 (e-PCR)
- UniSTS:157976

GDB:593865 (e-PCR)
- UniSTS:157977

GDB:593876 (e-PCR)
- UniSTS:157978

GDB:593922 (e-PCR)
- UniSTS:157980

GDB:593931 (e-PCR)
- UniSTS:157981

GDB:593955 (e-PCR)
- UniSTS:157982

RH119044 (e-PCR)
- UniSTS:138272

D15S931 (e-PCR)
- UniSTS:41591

D15S661 (e-PCR)
- UniSTS:45948

D15S217 (e-PCR)
- UniSTS:45949

SHGC-156027 (e-PCR)
- UniSTS:182916

L29654 (e-PCR)
- UniSTS:13447

G63215 (e-PCR)
- UniSTS:140189

WI-15852 (e-PCR)
- UniSTS:20389

D15S144 (e-PCR), detects polymorphism
- UniSTS:11942

D15S1250 (e-PCR)
- UniSTS:20390

SGC32570 (e-PCR)
- UniSTS:30899

RH69210 (e-PCR)
- UniSTS:11708

SHGC-149153 (e-PCR)
- UniSTS:176834

GDB:593271 (e-PCR)
- UniSTS:157950

GDB:593274 (e-PCR)
- UniSTS:157951

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in lysosomal lumen pH elevation	IDA Inferred from Direct Assay more info	PubMed
involved_in melanin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanin biosynthetic process from tyrosine	IDA Inferred from Direct Assay more info	PubMed
involved_in melanocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatid development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in melanosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: P protein

Names: P-protein; eye color 2 (central brown); eye color 3 (brown); hair color 3 (brown); melanocyte-specific transporter protein; oculocutaneous albinism II (pink-eye dilution homolog, mouse); pink-eyed dilution protein homolog; total brown iris pigmentation

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009846.2 RefSeqGene

Range

5000..349440

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000275.3 → NP_000266.2 P protein isoform 1

See identical proteins and their annotated locations for NP_000266.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC135329, BC012097, M99564

Consensus CDS

CCDS10020.1

UniProtKB/Swiss-Prot

Q04671, Q15211, Q15212, Q96EN1, Q9UMI5

UniProtKB/TrEMBL

A0A0J9YWU3

Related

ENSP00000346659.3, ENST00000354638.8

Conserved Domains (2) summary

COG1055
Location:329 → 829

ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]

cd01116
Location:338 → 829

P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
NM_001300984.2 → NP_001287913.1 P protein isoform 2

See identical proteins and their annotated locations for NP_001287913.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AC135329, BC012097, BX398277, M99564

Consensus CDS

CCDS73701.1

UniProtKB/TrEMBL

A0A0J9YXL8

Related

ENSP00000261276.8, ENST00000353809.9

Conserved Domains (2) summary

COG1055
Location:333 → 805

ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]

cd01116
Location:338 → 805

P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

27719008..28099315 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432619.1 → XP_047288575.1 P protein isoform X26

UniProtKB/TrEMBL

A0A0J9YXL8
XM_047432618.1 → XP_047288574.1 P protein isoform X25

UniProtKB/TrEMBL

A0A0J9YXL8
XM_047432609.1 → XP_047288565.1 P protein isoform X12

UniProtKB/TrEMBL

A0A0J9YXL8
XM_047432614.1 → XP_047288570.1 P protein isoform X21

UniProtKB/TrEMBL

A0A0J9YWU3
XM_047432606.1 → XP_047288562.1 P protein isoform X7

UniProtKB/TrEMBL

A0A0J9YWU3
XM_017022264.2 → XP_016877753.1 P protein isoform X20

UniProtKB/TrEMBL

A0A0J9YWU3
XM_017022258.2 → XP_016877747.1 P protein isoform X5

UniProtKB/TrEMBL

A0A0J9YWU3
XM_047432607.1 → XP_047288563.1 P protein isoform X10

UniProtKB/TrEMBL

A0A0J9YXL8
XM_047432611.1 → XP_047288567.1 P protein isoform X16

UniProtKB/TrEMBL

A0A0J9YXL8
XM_047432608.1 → XP_047288564.1 P protein isoform X11

UniProtKB/TrEMBL

A0A0J9YXL8
XM_047432617.1 → XP_047288573.1 P protein isoform X24

UniProtKB/TrEMBL

A0A0J9YXL8
XM_047432605.1 → XP_047288561.1 P protein isoform X6

UniProtKB/TrEMBL

A0A0J9YXL8
XM_047432613.1 → XP_047288569.1 P protein isoform X19

UniProtKB/TrEMBL

A0A0J9YWU3
XM_047432612.1 → XP_047288568.1 P protein isoform X18

UniProtKB/TrEMBL

A0A0J9YWU3
XM_011521640.3 → XP_011519942.1 P protein isoform X2

UniProtKB/TrEMBL

A0A0J9YWU3

Conserved Domains (2) summary

COG1055
Location:329 → 843

ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]

cd01116
Location:338 → 843

P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
XM_017022262.2 → XP_016877751.1 P protein isoform X15

UniProtKB/TrEMBL

A0A0J9YWU3
XM_017022255.2 → XP_016877744.1 P protein isoform X1

UniProtKB/TrEMBL

A0A0J9YWU3

Conserved Domains (2) summary

COG1055
Location:387 → 851

ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]

cd01116
Location:346 → 851

P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
XM_017022260.2 → XP_016877749.1 P protein isoform X9

UniProtKB/TrEMBL

A0A0J9YXL8

Conserved Domains (2) summary

COG1055
Location:343 → 805

ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]

cd01116
Location:351 → 805

P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
XM_047432615.1 → XP_047288571.1 P protein isoform X22

UniProtKB/TrEMBL

A0A0J9YXL8
XM_017022257.2 → XP_016877746.1 P protein isoform X4

UniProtKB/TrEMBL

A0A0J9YXL8

Conserved Domains (2) summary

COG1055
Location:341 → 827

ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]

cd01116
Location:346 → 827

P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
XM_017022263.2 → XP_016877752.1 P protein isoform X17

UniProtKB/TrEMBL

A0A0J9YWU3

Conserved Domains (2) summary

COG1055
Location:387 → 782

ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]

cd01116
Location:346 → 782

P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
XM_047432616.1 → XP_047288572.1 P protein isoform X23

UniProtKB/TrEMBL

A0A0J9YXL8
XM_017022256.2 → XP_016877745.1 P protein isoform X3

UniProtKB/TrEMBL

A0A0J9YWU3

Conserved Domains (2) summary

COG1055
Location:387 → 837

ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]

cd01116
Location:346 → 837

P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
XM_047432610.1 → XP_047288566.1 P protein isoform X13

UniProtKB/TrEMBL

A0A0J9YXL8
XM_017022259.2 → XP_016877748.1 P protein isoform X8

UniProtKB/TrEMBL

A0A0J9YXL8

Conserved Domains (2) summary

COG1055
Location:341 → 813

ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]

cd01116
Location:346 → 813

P_permease; Permease P (pink-eyed dilution). Mutations in the human melanosomal P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2). Although the precise function of the P protein is unknown, it was predicted to regulate the ...
XM_017022261.2 → XP_016877750.1 P protein isoform X14

UniProtKB/TrEMBL

A0A0J9YWU3
XM_017022265.2 → XP_016877754.1 P protein isoform X27

UniProtKB/TrEMBL

A0A0J9YWU3

Conserved Domains (1) summary

cl21473
Location:346 → 652

ArsB_NhaD_permease; Anion permease ArsB/NhaD. These permeases have been shown to translocate sodium, arsenate, antimonite, sulfate and organic anions across biological membranes in all three kingdoms of life. A typical anion permease contains 8-13 transmembrane helices ...