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

    Gene ID: 4948, updated on 7-May-2017
    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]
    Orthologs
    Location:
    15q12-q13.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 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.p7 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p7 PATCHES

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

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p7 ALT_REF_LOCI_2

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      27949611..28294279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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