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

Gene ID: 4948, updated on 8-Jul-2018
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; Vega:OTTHUMG00000128871
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
See OCA2 in Genome Data Viewer
Location:
15q12-q13.1
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (27719008..28099342, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (28000021..28344483, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor gamma3 subunit Neighboring gene serpin family E member 4, pseudogene Neighboring gene uncharacterized LOC105370741 Neighboring gene ribosomal protein L5 pseudogene 32 Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 2 Neighboring gene ribosomal protein L41 pseudogene 2 Neighboring gene hect domain and RLD 2 pseudogene 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Skin/hair/eye pigmentation, variation in, 1
MedGen: C1856895 OMIM: 227220 GeneReviews: Not available
Compare labs
Tyrosinase-positive oculocutaneous albinism
MedGen: C0268495 OMIM: 203200 GeneReviews: Oculocutaneous Albinism Type 2
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
NHGRI GWA Catalog
Gene network analysis in a pediatric cohort identifies novel lung function genes.
NHGRI GWA Catalog
Genetic determinants of hair, eye and skin pigmentation in Europeans.
NHGRI GWA Catalog
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
NHGRI GWA Catalog
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
NHGRI GWA Catalog
Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.
NHGRI GWA Catalog
Genomewide association study for onset age in Parkinson disease.
NHGRI GWA Catalog
Web-based, participant-driven studies yield novel genetic associations for common traits.
NHGRI GWA Catalog
  • Melanin biosynthesis, organism-specific biosystem (from REACTOME)
    Melanin biosynthesis, organism-specific biosystemMelanin biosynthesis takes place in specialized cells called melanocytes, within membrane-bound organelles referred to as melanosomes. Melanosomes are transferred via dendrites to surrounding keratin...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-tyrosine transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
eye pigment biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
melanin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
tyrosine transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
melanosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
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

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

  1. NG_009846.1 RefSeqGene

    Range
    5001..349438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000275.2NP_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)
    BC012097, M99564
    Consensus CDS
    CCDS10020.1
    UniProtKB/Swiss-Prot
    Q04671
    Related
    ENSP00000346659.3, OTTHUMP00000159102, ENST00000354638.7, OTTHUMT00000250823
    Conserved Domains (2) summary
    COG1055
    Location:329829
    ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]
    cd01116
    Location:338829
    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 ...
  2. NM_001300984.1NP_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)
    BC012097, BX398277, M99564
    Consensus CDS
    CCDS73701.1
    UniProtKB/Swiss-Prot
    Q04671
    Related
    ENSP00000261276.8, OTTHUMP00000159103, ENST00000353809.9, OTTHUMT00000250824
    Conserved Domains (2) summary
    COG1055
    Location:333805
    ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]
    cd01116
    Location:338805
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    27719008..28099342 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022264.1XP_016877753.1  P protein isoform X11

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

  3. XM_011521640.2XP_011519942.1  P protein isoform X2

    Conserved Domains (2) summary
    COG1055
    Location:329843
    ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]
    cd01116
    Location:338843
    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 ...
  4. XM_017022256.1XP_016877745.1  P protein isoform X3

    Conserved Domains (2) summary
    COG1055
    Location:387837
    ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]
    cd01116
    Location:346837
    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 ...
  5. XM_017022260.1XP_016877749.1  P protein isoform X7

    Conserved Domains (2) summary
    COG1055
    Location:343805
    ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]
    cd01116
    Location:351805
    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 ...
  6. XM_017022259.1XP_016877748.1  P protein isoform X6

    Conserved Domains (2) summary
    COG1055
    Location:341813
    ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]
    cd01116
    Location:346813
    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 ...
  7. XM_017022257.1XP_016877746.1  P protein isoform X4

    Conserved Domains (2) summary
    COG1055
    Location:341827
    ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]
    cd01116
    Location:346827
    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 ...
  8. XM_017022263.1XP_016877752.1  P protein isoform X10

    Conserved Domains (2) summary
    COG1055
    Location:387782
    ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]
    cd01116
    Location:346782
    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 ...
  9. XM_017022262.1XP_016877751.1  P protein isoform X9

  10. XM_017022255.1XP_016877744.1  P protein isoform X1

    Conserved Domains (2) summary
    COG1055
    Location:387851
    ArsB; Na+/H+ antiporter NhaD or related arsenite permease [Inorganic ion transport and metabolism]
    cd01116
    Location:346851
    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 ...
  11. XM_017022261.1XP_016877750.1  P protein isoform X8

  12. XM_017022265.1XP_016877754.1  P protein isoform X12

    Conserved Domains (1) summary
    cl21473
    Location:346652
    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 ...

RNA

  1. XR_001751294.1 RNA Sequence

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p12 PATCHES

    Range
    5441..233611 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    5441..233611 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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