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

    Gene ID: 4948, updated on 11-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    15q12-q13.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (27719008..28099315, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (25461432..25841842, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (28000021..28344461, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit gamma3 Neighboring gene RNA, 5S ribosomal pseudogene 391 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:27585914-27587113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:27603646-27604146 Neighboring gene serpin family E member 4, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:27657550-27658104 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:27699000-27700199 Neighboring gene Sharpr-MPRA regulatory region 4259 Neighboring gene NANOG hESC enhancer GRCh37_chr15:27757723-27758304 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:27833083-27833211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:27883709-27884453 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:27890620-27891400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:27931705-27932684 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:27939287-27940486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:27947009-27947605 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:27958849-27960048 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:27996457-27996958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28115926-28116426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28142467-28142967 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:28149284-28149784 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39258 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28228378-28228878 Neighboring gene ribosomal protein L5 pseudogene 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28264414-28265082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28268807-28269306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28343756-28344408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:28352349-28352910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:28352911-28353471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:28359141-28359640 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 15:28365618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:28377589-28378366 Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 2 Neighboring gene MPRA-validated peak2277 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:28526505-28527006 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:28537256-28537799 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:28563777-28564427 Neighboring gene ribosomal protein L41 pseudogene 2 Neighboring gene HERC2 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_009846.2 RefSeqGene

      Range
      5000..349440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000275.3NP_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: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_001300984.2NP_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: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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      27719008..28099315 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432619.1XP_047288575.1  P protein isoform X26

    2. XM_047432618.1XP_047288574.1  P protein isoform X25

    3. XM_047432609.1XP_047288565.1  P protein isoform X12

    4. XM_047432614.1XP_047288570.1  P protein isoform X21

    5. XM_047432606.1XP_047288562.1  P protein isoform X7

    6. XM_017022264.2XP_016877753.1  P protein isoform X20

      UniProtKB/TrEMBL
      A0A0J9YWU3
    7. XM_017022258.2XP_016877747.1  P protein isoform X5

      UniProtKB/TrEMBL
      A0A0J9YWU3
    8. XM_047432607.1XP_047288563.1  P protein isoform X10

    9. XM_047432611.1XP_047288567.1  P protein isoform X16

    10. XM_047432608.1XP_047288564.1  P protein isoform X11

    11. XM_047432617.1XP_047288573.1  P protein isoform X24

    12. XM_047432605.1XP_047288561.1  P protein isoform X6

    13. XM_047432613.1XP_047288569.1  P protein isoform X19

    14. XM_047432612.1XP_047288568.1  P protein isoform X18

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

      UniProtKB/TrEMBL
      A0A0J9YWU3
      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 ...
    16. XM_017022262.2XP_016877751.1  P protein isoform X15

      UniProtKB/TrEMBL
      A0A0J9YWU3
    17. XM_017022255.2XP_016877744.1  P protein isoform X1

      UniProtKB/TrEMBL
      A0A0J9YWU3
      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 ...
    18. XM_017022260.2XP_016877749.1  P protein isoform X9

      UniProtKB/TrEMBL
      A0A0J9YXL8
      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 ...
    19. XM_047432615.1XP_047288571.1  P protein isoform X22

    20. XM_017022257.2XP_016877746.1  P protein isoform X4

      UniProtKB/TrEMBL
      A0A0J9YXL8
      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 ...
    21. XM_017022263.2XP_016877752.1  P protein isoform X17

      UniProtKB/TrEMBL
      A0A0J9YWU3
      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 ...
    22. XM_047432616.1XP_047288572.1  P protein isoform X23

    23. XM_017022256.2XP_016877745.1  P protein isoform X3

      UniProtKB/TrEMBL
      A0A0J9YWU3
      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 ...
    24. XM_047432610.1XP_047288566.1  P protein isoform X13

    25. XM_017022259.2XP_016877748.1  P protein isoform X8

      UniProtKB/TrEMBL
      A0A0J9YXL8
      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 ...
    26. XM_017022261.2XP_016877750.1  P protein isoform X14

      UniProtKB/TrEMBL
      A0A0J9YWU3
    27. XM_017022265.2XP_016877754.1  P protein isoform X27

      UniProtKB/TrEMBL
      A0A0J9YWU3
      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_001751294.2 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

      Range
      5441..233614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      5441..233614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      25461432..25841842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378101.1XP_054234076.1  P protein isoform X26

    2. XM_054378100.1XP_054234075.1  P protein isoform X25

    3. XM_054378087.1XP_054234062.1  P protein isoform X12

    4. XM_054378096.1XP_054234071.1  P protein isoform X21

    5. XM_054378082.1XP_054234057.1  P protein isoform X7

    6. XM_054378095.1XP_054234070.1  P protein isoform X20

    7. XM_054378077.1XP_054234052.1  P protein isoform X28

    8. XM_054378085.1XP_054234060.1  P protein isoform X10

    9. XM_054378080.1XP_054234055.1  P protein isoform X5

    10. XM_054378091.1XP_054234066.1  P protein isoform X16

    11. XM_054378086.1XP_054234061.1  P protein isoform X11

    12. XM_054378099.1XP_054234074.1  P protein isoform X24

    13. XM_054378081.1XP_054234056.1  P protein isoform X6

    14. XM_054378094.1XP_054234069.1  P protein isoform X19

    15. XM_054378093.1XP_054234068.1  P protein isoform X18

    16. XM_054378076.1XP_054234051.1  P protein isoform X2

    17. XM_054378084.1XP_054234059.1  P protein isoform X9

    18. XM_054378098.1XP_054234073.1  P protein isoform X23

    19. XM_054378097.1XP_054234072.1  P protein isoform X22

    20. XM_054378079.1XP_054234054.1  P protein isoform X4

    21. XM_054378092.1XP_054234067.1  P protein isoform X17

    22. XM_054378090.1XP_054234065.1  P protein isoform X15

    23. XM_054378074.1XP_054234049.1  P protein isoform X1

    24. XM_054378088.1XP_054234063.1  P protein isoform X13

    25. XM_054378083.1XP_054234058.1  P protein isoform X8

    26. XM_054378078.1XP_054234053.1  P protein isoform X3

    27. XM_054378075.1XP_054234050.1  P protein isoform X1

    28. XM_054378089.1XP_054234064.1  P protein isoform X14

    29. XM_054378103.1XP_054234078.1  P protein isoform X29

    30. XM_054378102.1XP_054234077.1  P protein isoform X27

    RNA

    1. XR_008488954.1 RNA Sequence