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OCA2 Gene

protein-coding   GIFtS: 59
GCID: GC15M028000

Oculocutaneous Albinism II

(Previous names: oculocutaneous albinism II (pink-eye dilution (murine) homolog),...)
(Previous symbols: D15S12, P, EYCL3, EYCL2)
  See OCA2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Oculocutaneous Albinism II1 2     HCL32 5
D15S121 2 3 5     PED2 5
P1 2 3 5     SHEP12 5
Melanocyte-Specific Transporter Protein1 2 3     Oculocutaneous Albinism II (Pink-Eye Dilution (Murine) Homolog)1
EYCL31 2 5     BEY2
EYCL21 2     BEY12
Eye Color 2 (Central Brown)1 2     BEY22
Eye Color 3 (Brown)1 2     EYCL2
Oculocutaneous Albinism II (Pink-Eye Dilution Homolog, Mouse)1 2     Hair Color 3 (Brown)2
Pink-Eyed Dilution Protein Homolog2 3     P Protein2
BOCA2 5     Total Brown Iris Pigmentation2

External Ids:    HGNC: 81011   Entrez Gene: 49482   Ensembl: ENSG000001040447   OMIM: 6114095   UniProtKB: Q046713   

Export aliases for OCA2 gene to outside databases

Previous GC identifers: GC15M024087 GC15M020867 GC15M025396 GC15M025602 GC15M025673 GC15M006126


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OCA2 Gene:
This gene encodes the human homologue 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 - a precursor of
melanin. Mutations in this gene result in type 2 oculocutaneous albinism. (provided by RefSeq, Jul 2008)

GeneCards Summary for OCA2 Gene:
OCA2 (oculocutaneous albinism II) is a protein-coding gene. Diseases associated with OCA2 include oculocutaneous albinism type 2, and acute conjunctivitis. GO annotations related to this gene include transporter activity and L-tyrosine transmembrane transporter activity.

UniProtKB/Swiss-Prot: P_HUMAN, Q04671
Function: Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the
melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian
pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the
limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is
determined. Major determinant of brown and/or blue eye color

Gene Wiki entry for OCA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  NT_187660.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the OCA2 gene promoter:
         STAT1   POU2F1   p53   POU2F1a   FOXO4   HTF   IRF-7A   Pax-2a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOCA2 promoter sequence
   Search Chromatin IP Primers for OCA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OCA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q   Ensembl cytogenetic band:  15q13.1   HGNC cytogenetic band: 15q12

OCA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OCA2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M028000:  view genomic region     (about GC identifiers)

Start:
28,000,021 bp from pter      End:
28,344,504 bp from pter
Size:
344,484 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: P_HUMAN, Q04671 (See protein sequence)
Recommended Name: P protein  
Size: 838 amino acids; 92850 Da
Secondary accessions: Q15211 Q15212 Q96EN1 Q9UMI5
Alternative splicing: 3 isoforms:  Q04671-1   Q04671-2   Q04671-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for OCA2: NX_Q04671

Explore proteomics data for OCA2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn214, Asn218, Asn273, Asn442, Asn781
  • Modification sites at PhosphoSitePlus

  • See OCA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000266.2  
    ENSEMBL proteins: 
     ENSP00000261276   ENSP00000346659   ENSP00000414425   ENSP00000415431   ENSP00000372457  

    OCA2 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for OCA2

     
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    Search eBioscience for ELISAs for OCA2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004680 Cit_transptr-like_dom

    Graphical View of Domain Structure for InterPro Entry Q04671

    ProtoNet protein and cluster: Q04671

    UniProtKB/Swiss-Prot: P_HUMAN, Q04671
    Similarity: Belongs to the CitM (TC 2.A.11) transporter family


    Find genes that share domains with OCA2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P_HUMAN, Q04671
    Function: Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the
    melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian
    pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the
    limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is
    determined. Major determinant of brown and/or blue eye color
    Induction: Expression is under the control of an enhancer element that is encoded in an intron of the close-by
    HERC2 gene. The enhancer element containing the T-allele of the polymorphism rs12913832 mediates binding of the
    transcription factors HLTF, LEF1 and MITF and increases OCA2 expression. In contrast, transcription factor
    binding and OCA2 expression are reduced in carriers of the C-allele of polymorphism rs12913832. Thus, people
    homozygous for the C-allele have light-colored eyes, while people homozygous for the T-allele of polymorphism
    rs12913832 most often have brown eyes

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS8302318
    GO:0005302L-tyrosine transmembrane transporter activity TAS7601462
    GO:0005515protein binding IPI19116314
    GO:0015105arsenite transmembrane transporter activity ----
         
    Find genes that share ontologies with OCA2           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 71 alleles(MGI details for Oca2) (see all 21):
     adipose tissue  behavior/neurological  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  liver/biliary system  mortality/aging  no phenotypic analysis 

    Find genes that share phenotypes with OCA2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OCA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for OCA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OCA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OCA2

    miRNA
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    miRTarBase miRNAs that target OCA2:
    hsa-mir-181a-5p (MIRT047322), hsa-mir-124-3p (MIRT022272)

    Block miRNA regulation of human, mouse, rat OCA2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate OCA2:
    hsa-miR-3163 hsa-miR-3920
    SwitchGear 3'UTR luciferase reporter plasmidOCA2 3' UTR sequence
    Inhib. RNA
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    OriGene ORF clones in mouse, rat for OCA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OCA2 (NM_000275)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OCA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCA2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    P_HUMAN, Q04671: Melanosome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome5
    lysosome5
    vacuole5
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS7601462
    GO:0005765lysosomal membrane IDA19116314
    GO:0005789endoplasmic reticulum membrane IDA19116314
    GO:0010008endosome membrane IDA19116314
    GO:0016020membrane ----

    Find genes that share ontologies with OCA2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OCA2
    Interactions:

        GeneGlobe Interaction Network for OCA2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for OCA2 (ENSP000003466594) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMTENSP000002735884STRING: ENSP00000273588
    DLDENSP000002054024STRING: ENSP00000205402
    TENSP000002969464STRING: ENSP00000296946
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006726eye pigment biosynthetic process TAS8421497
    GO:0006814sodium ion transport ----
    GO:0007286spermatid development IEA--
    GO:0008283cell proliferation IEA--
    GO:0015700arsenite transport ----

    Find genes that share ontologies with OCA2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OCA2 (P)

    1 HMDB Compound for OCA2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Melanin 8049-97-6--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for OCA2 gene: 
    NM_000275.2  

    Unigene Cluster for OCA2:

    Oculocutaneous albinism II
    Hs.654411  [show with all ESTs]
    Unigene Representative Sequence: NM_000275
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000353809(uc010ayv.3) ENST00000354638(uc001zbh.4) ENST00000445578
    ENST00000431101 ENST00000382996
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate OCA2:
    hsa-miR-3163 hsa-miR-3920
    SwitchGear 3'UTR luciferase reporter plasmidOCA2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat OCA2
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    GenScript: all cDNA clones in your preferred vector: OCA2 (NM_000275)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OCA2
      QuantiTect SYBR Green Assays in human, mouse, rat OCA2
      QuantiFast Probe-based Assays in human, mouse, rat OCA2

    Additional mRNA sequence: 

    BC012097.1 M97901.1 M99564.1 

    5 DOTS entries:

    DT.211208  DT.97837707  DT.121054587  DT.40117136  DT.97837706 

    Selected AceView cDNA sequences (see all 31):

    M99564 NM_000275 BC012097 M97901 BM695542 T29709 BG388843 BX283620 
    BU681148 BM926459 AA063005 AI097486 BG765188 BG760895 H98884 BM764701 
    AA062643 CB994934 BX398277 BI549288 BU728954 R52315 BX375094 BG478111 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for OCA2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
    SP1:                                                        -                                                                                             
    SP2:                                                              -                                                                                       


    ECgene alternative splicing isoforms for OCA2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OCA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAAATAAT
    OCA2 Expression
    About this image


    OCA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Adipose (Muscoskeletal System)
             HyStem+BMP4-induced 7SMOO32 cells
    OCA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OCA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654411
        Custom PCR Arrays for OCA2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for OCA2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Oca21 , 5 oculocutaneous albinism II1, 5 79.69(n)1
    79.69(a)1
      7 (33.44 cM)5
    184311  NM_021879.21  NP_068679.11 
     562397605 
    chicken
    (Gallus gallus)
    Aves OCA21 oculocutaneous albinism II 70.32(n)
    70.49(a)
      428009  XM_425579.4  XP_425579.4 
    lizard
    (Anolis carolinensis)
    Reptilia OCA26
    oculocutaneous albinism II
    67(a)
    1 ↔ 1
    3(111251653-111519021)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia oca21 oculocutaneous albinism II 68.31(n)
    70.45(a)
      100487559  XM_002936980.2  XP_002937026.2 
    zebrafish
    (Danio rerio)
    Actinopterygii oca21 oculocutaneous albinism II 64.9(n)
    65.99(a)
      567419  XM_690715.6  XP_695807.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta hoe23 tyrosine transporter 40(a)
    (best of 3)
      25B4   --


    ENSEMBL Gene Tree for OCA2 (if available)
    TreeFam Gene Tree for OCA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    P_HUMAN, Q04671: Genetic variants in OCA2 define the skin/hair/eye pigmentation variation locus 1 (SHEP1)
    [MIM:227220]; also known as skin/hair/eye pigmentation type 1, blue/nonblue eyes or skin/hair/eye pigmentation
    type 1, blue/brown eyes or skin/hair/eye pigmentation type 1, blond/brown hair or eye color, brown/blue or eye
    color, blue/nonblue or eye color type 3 (EYCL3) or brown eye color type 2 (BEY2) or hair color type 3 (HCL3).
    Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad
    normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to
    have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in
    human eye and hair color is found among individuals of European ancestry, with most other human populations fixed
    for brown eyes and black hair. OCA2 polymorphisms may act as a penetrance modifier of the risk of malignant
    melanoma


    Selected SNPs for OCA2 (see all 7363)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs746533301,2,,4
    C,FAlbinism, oculocutaneous, 2 (OCA2)4 pathogenic18222826(-) GAGCTG/ACCACT 2 /T /A mis14Minor allele frequency- A:0.00NA EA EU 6113
    rs1432181681,2,,4
    C,FAlbinism, oculocutaneous, 2 (OCA2)4 --8224592(+) TCCCCG/AGGAGA 2 /R /W mis11Minor allele frequency- A:0.00NA 4552
    rs1448125941,2,,4
    C,FAlbinism, oculocutaneous, 2 (OCA2)4 --8226034(+) ATCCCG/ATTTCT 2 /T /M mis11Minor allele frequency- A:0.00NA 4540
    rs1379566051,2,,4
    C,FAlbinism, oculocutaneous, 2 (OCA2)4 --8229051(+) CTCAAA/TATCAA 2 I F mis11Minor allele frequency- T:0.00NA 4552
    rs617451501,2,,4
    CAlbinism, oculocutaneous, 2 (OCA2)4 --8230010(+) TCACAG/ACCAGT 2 /A /V mis11Minor allele frequency- A:0.01NS 76
    rs1834870201,2,,4
    CAlbinism, oculocutaneous, 2 (OCA2)4 --8262005(+) GATCCA/GGATAT 2 P L mis10--------
    rs617383941,2,,4
    C,FAlbinism, oculocutaneous, 2 (OCA2)4 --8321248(+) GAGTCC/TGCTGG 2 R G mis15Minor allele frequency- T:0.01NS WA NA EU 3433
    VAR_0061434
    Albinism, oculocutaneous, 2 (OCA2)4--see VAR_0061432 A P mis40--------
    VAR_0061194
    Albinism, oculocutaneous, 2 (OCA2)4--see VAR_0061192 C F mis40--------
    VAR_0061344
    Albinism, oculocutaneous, 2 (OCA2)4--see VAR_0061342 I S mis40--------

    HapMap Linkage Disequilibrium report for OCA2 (28000021 - 28250021 bp, first 250kb of OCA2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for OCA2 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749503CNV Deletion23290073
    esv2749502CNV Deletion23290073
    esv2749501CNV Deletion23290073
    esv2126699CNV Deletion18987734
    esv2663244CNV Deletion23128226
    esv269728CNV Insertion20981092
    esv267642CNV Insertion20981092
    nsv1472CNV Insertion18451855
    esv273744CNV Insertion20981092
    nsv94457CNV Insertion16902084

    Human Gene Mutation Database (HGMD): OCA2
    Locus Specific Mutation Databases (LSDB): OCA2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OCA2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611409   
    OMIM disorders: 203200  227220  
    UniProtKB/Swiss-Prot: P_HUMAN, Q04671
  • Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]: An autosomal recessive disorder in which the
    biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth
    to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual
    anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected
    individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American
    individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been
    described in African and African American populations and is characterized by light brown hair and skin color and
    gray to tan irides. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for OCA2:    
    About MalaCards
    oculocutaneous albinism type 2    acute conjunctivitis    albinism, brown oculocutaneous    oculocutaneous albinism
    albinism, oculocutaneous, type ii, modifier of    albinism    prader-willi syndrome due to maternal uniparental disomy of chromosome 15    prader-willi syndrome due to paternal deletion of 15q11q13 type 1
    prader-willi syndrome due to paternal deletion of 15q11q13 type 2    oculocutaneous albinism type 1    hyperprolinemia    angelman syndrome
    prader-willi syndrome    congenital nystagmus    familial melanoma

    8 diseases from the University of Copenhagen DISEASES database for OCA2:
    Oculocutaneous albinism     Ocular albinism     Hermansky-Pudlak syndrome     Acute conjunctivitis
    Angelman syndrome     Congenital nystagmus     Skin cancer     Prader-Willi syndrome

    Find genes that share disorders with OCA2           About GenesLikeMe

    5 Novoseek inferred disease relationships for OCA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    albinism oculocutaneous 95.2 20 20019752 (2), 17385796 (2), 17931990 (1), 8651291 (1) (see all 13)
    albinism 85.8 3 20019752 (2), 15889046 (1)
    chagas disease 30.5 1 7693813 (1)
    melanoma 29.7 4 15889046 (2), 19710684 (1), 14709592 (1)
    influenza 0 2 10600605 (1)

    Genatlas disease: OCA2
    albinism,oculocutaneous 2,tyrosinase positive,most common,autosomal recessive disorder among southern African
    Blacks also including a milder hypopigmentation phenotype known as the brown oculocutaneous albinism

    GeneTests: OCA2
    GeneReviews: OCA2
    Genetic Association Database (GAD): OCA2
    Human Genome Epidemiology (HuGE) Navigator: OCA2 (40 documents)

    Export disorders for OCA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for OCA2 gene, integrated from 10 sources (see all 131):
    (articles sorted by number of sources associating them with OCA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. (PubMed id 17236130)1, 2, 4, 9 Duffy D.L.... Sturm R.A. (Am. J. Hum. Genet. 2007)
    2. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. (PubMed id 15889046)1, 2, 4, 9 Jannot A.-S.... Soufir N. (Eur. J. Hum. Genet. 2005)
    3. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PubMed id 17952075)1, 2, 4 Sulem P.... Stefansson K. (Nat. Genet. 2007)
    4. Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2. (PubMed id 18528436)1, 4, 9 Shekar S.N....Martin N.G. (J. Invest. Dermatol. 2008)
    5. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PubMed id 19710684)1, 4, 9 Duffy D.L....Montgomery G.W. (J. Invest. Dermatol. 2010)
    6. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. (PubMed id 19060277)1, 4, 9 GrA...Rosenberg T. (amp 2009)
    7. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. (PubMed id 18463683)1, 4, 9 Hutton S.M. and Spritz R.A. (J. Invest. Dermatol. 2008)
    8. Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes. (PubMed id 17570052)1, 4, 9 Yuasa I....Henke J. (Biochem. Genet. 2007)
    9. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. (PubMed id 11310796)1, 2, 9 Brilliant M.H. (Pigment Cell Res. 2001)
    10. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (PubMed id 19865097)1, 4, 9 Wei A....Li W. (J. Invest. Dermatol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4948 HGNC: 8101 AceView: OCA2 Ensembl:ENSG00000104044 euGenes: HUgn4948
    ECgene: OCA2 H-InvDB: OCA2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OCA2 Pharmacogenomics, SNPs, Pathways
    Mutations of the P genehttp://www.retina-international.org/files/sci-news/pgenemut.htm
    Albinism database (ADB)http://albinismdb.med.umn.edu/oca2mut.html
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/054
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OCA2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OCA2 gene:
    Search GeneIP for patents involving OCA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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