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

Gene ID: 4948, updated on 10-Oct-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
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Genomic context

See OCA2 in Genome Data Viewer
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_000015.10Genomic 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 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_2024_08

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