V3 here soon-try beta now
Gene Search (GeneCards Home) | GeneCards Guide | User Feedback | Terms of Use | Notice about third-party sites
 

OCA2 Gene

protein-coding   GIFtS: 62

GC15M025673
oculocutaneous albinism II
(Previous names: oculocutaneous albinism II (pink-eye dilution (murine) homolog), eye color 3 (brown), eye color 2 (central brown), oculocutaneous albinism II (pink-eye dilution homolog, mouse) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: D15S12, P, EYCL3, EYCL2)
Services    

Aliases &
Descriptions
for OCA2

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
BEY 1, 2
BEY1 1, 2
BEY2 1, 2
BOCA 2, 5
D15S12 2, 3, 5
EYCL 1, 2
EYCL2 2
EYCL3 2, 5
HCL3 2, 5
P 2, 3, 5
PED 2, 5
SHEP1 2, 5
Descriptions
Melanocyte-specific transporter protein 2, 3
Pink-eyed dilution protein homolog 3
eye color 2 (central brown) 1, 2
eye color 3 (brown) 1, 2
hair color 3 (brown) 2
oculocutaneous albinism II 2
oculocutaneous albinism II (pink-eye dilution (murine)
homolog) 1
oculocutaneous albinism II (pink-eye dilution homolog,
mouse) 1, 2
total brown iris pigmentation 2
External Ids
HGNC: 81011
Entrez Gene: 49482
UniProtKB: Q046713
Ensembl: ENSG000001040447
Search outside databases for aliases for OCA2 gene

Previous GC identifers: GC15M024087 GC15M020867 GC15M025396 GC15M025602

Summaries
for OCA2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for OCA2:
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]

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

Genomic Location
for OCA2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the OCA2 gene  

Entrez Gene cytogenetic band: 15q11.2-q12   Ensembl cytogenetic band:  15q13.1   HGNC cytogenetic band: 15q11.2-q12

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

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M025673:     (about GC identifiers)

Start:
 25,673,616 bp from pter
End:
 26,018,053 bp from pter
Size:
 344,438 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000015.8  NT_010280.17  

Proteins
for OCA2

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: P_HUMAN, Q04671 (See protein sequence)
Recommended Name: P protein  
Size: 838 amino acids; 92850 Da
Subcellular location: Melanosome membrane; Multi-pass membrane protein
Secondary accessions: Q15211 Q15212 Q96EN1 Q9UMI5
Alternative splicing: 3 isoforms:  Q04671-1   Q04671-2   Q04671-3   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_000266.2  

    ENSEMBL proteins: 
    ENSP00000372457 ENSP00000346659 ENSP00000261276 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (P protein)
    Human Recombinant Proteins from Abnova (OCA2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm TAS7601462
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane TAS8421497
    GO:0033162 melanosome membrane IEA--
    About this table

    Antibodies for OCA2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (P protein), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for OCA2

    Assays for OCA2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for OCA2

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro domains/families:
     IPR004680 Divalent_ion_symporter
     IPR000802 Ars_pump


       GeneDecks  OCA2 for the domains selected above  
    About GeneDecksing

    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

    Gene Function
    for OCA2

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (OCA2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (OCA2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000275

                  Applied Biosystems Silencer® siRNAs for OCA2

                  Sigma-Aldrich siRNA and siRNA Panels for OCA2  
                         Sigma-Aldrich shRNA for OCA2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for OCA2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000275
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000275
                                     untagged cDNA clone in CMV expression vector: NM_000275 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000275

    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

    15/19 MGI mutant phenotypes (inferred from 64 alleles) (MGI details for Oca2) (see all 19 ):

    adipose tissuebehavior/neurologicalcraniofacialdigestive/alimentarygrowth/size
    hearing/vestibular/earhematopoietic systemhomeostasis/metabolismimmune systemlethality-postnatal
    lethality-prenatal/perinatallife span-post-weaning/agingliver/biliary systemno phenotypic analysispigmentation

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215 transporter activity TAS8302318 8421497
    GO:0005302 L-tyrosine transmembrane transporter activity TAS7601462
    GO:0015105 arsenite transmembrane transporter activity IEA--
    GO:0015137 citrate transmembrane transporter activity IEA--
    About this table

    Pathways & Interactions
    for OCA2

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  OCA2 


    5/29 Interacting proteins for OCA2 (ENSP000003466593) via UniProtKB, MINT, and/or STRING (see all 29 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TENSP000002969463STRING (score=.995)
    AMTENSP000002735883STRING (score=.98)
    TYRENSP000002633213STRING (score=.967)
    GLDCENSP000003707403STRING (score=.961)
    HERC2ENSP000002616093STRING (score=.953)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006726 eye pigment biosynthetic process TAS8421497
    GO:0006810 transport IEA--
    GO:0015746 citrate transport IEA--
    About this table

    Drugs & Compounds
    for OCA2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for OCA2

    Transcripts
    for OCA2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (OCA2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (OCA2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000275

                  Sigma-Aldrich siRNA and siRNA Panels for OCA2  
                         Sigma-Aldrich shRNA for OCA2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000275  

    REFSEQ mRNAs for OCA2 gene: 

    NM_000275.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000275  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000275
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000275
                                     untagged cDNA clone in CMV expression vector: NM_000275 

    Additional cDNA sequence: 

    BC012097.1 M97901.1 M99564.1 

    5 DOTS entries:

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

    24/31 AceView cDNA sequences (see all 31 ):

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

    highest scoring ESTs for OCA2:

    M99564 BC012097 BG282272 BG388843 BG478111 BI549288 CB994934 AA062643 AA063005 AI097486 

    Unigene Cluster for OCA2:

    Oculocutaneous albinism II
    Hs.654411  [show with all ESTs]
    Unigene Representative Sequence: NM_000275


    GeneLoc Exon Structure

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

    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:                                                              -                                                                                       

    About this scheme

    ECgene alternative splicing isoforms for OCA2

    3 Ensembl transcripts including schematic representations:
    ENST00000382996  ENST00000354638  ENST00000353809  

    Expression
    for OCA2

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    OCA2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for OCA2

    1 / 2 / 3

    3 probe-sets matching OCA2 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		36800_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M99564 1.00 1.00 1.00 1

    		206498_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000275 0.60 1.00 0.82 1

    		206498_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTAAAATAAT

    SOURCE GeneReport for Unigene cluster: Hs.654411

    Expression variation in blood from EXPOLDB for OCA2

    Orthologs
    for OCA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for OCA2 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 OCA21   -- oculocutaneous albinism II 85.91(n)
    86.55(a)    		 488683  XM_545800.2  XP_545800.2 
    chimpanzee
    (Pan troglodytes)    		 OCA21   -- oculocutaneous albinism II 99.05(n)
    98.81(a)    		 453261  XM_001162129.1  XP_001162129.1 
    mouse
    (Mus musculus)    		 Oca21, 5 7 (28.00 cM)5
    		 oculocutaneous albinism II1, 5 79.69(n)1
    79.69(a)1    		 184311  NM_021879.21  NP_068679.11 
     BC1192205  BC1205495  (see all 6)
    chicken
    (Gallus gallus)    		 OCA21   -- oculocutaneous albinism II (pink-eye dilution homolog, more 71.65(n)
    73.86(a)    		 428009  XM_425579.2  XP_425579.2 
    zebrafish
    (Danio rerio)    		 oca21   -- oculocutaneous albinism II 66.18(n)
    67.9(a)    		 567419  XM_690715.3  XP_695807.3 
    About this table        Species with no ortholog for OCA2

    ENSEMBL Gene Tree for OCA2

    Paralogs
    for OCA2

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    		  --

    SNPs/Variants
    for OCA2

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    		UniProtKB/Swiss-Prot: P_HUMAN, Q04671
    Polymorphism: Genetic variations in OCA2 are associated with skin/hair/eye pigmentation variability
    type 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


    10/2040 NCBI SNPs in OCA2 are shown (see all 2040 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 692)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs129039141,2
    		C,F,H25673431(+) ATAGCA/GTGCAC 1 -- ng514Minor allele frequency- G:0.03EU EA WA 420
    rs18004141,2
    		C,F,H25870632(-) ACAGCA/GTAGGA 1 H/R mis1 ese321Minor allele frequency- G:0.33EA NA MN CSAM EU WA 2676
    rs23052531,2
    		C,F,H25937223(-) TGGGCC/GGAGTC 1 P/R mis1 ese317Minor allele frequency- G:0.02EA NA MN CSAM EU WA 2876
    rs71752661,2
    		F,H25674079(+) ATGGGT/CTGTGA 1 -- ut31 ese34Minor allele frequency- C:0.02EU EA WA 418
    rs18004011,2
    		C,F25933648(-) GCATCC/TGGGCC 1 R/W mis17Minor allele frequency- T:0.05MN CSAM EA NA 660
    rs339294651,2
    		C,F25937149(-) GGCGGC/TGGCCA 1 R/W mis16Minor allele frequency- T:0.01MN CSAM EA NA 476
    rs340106191,2
    		C,F25933554(-) GACGGC/TCATCC 1 A/V mis15Minor allele frequency- T:0.01MN CSAM EA 400
    rs18004171,2
    		C,F25789974(-) CCTCAT/CAGCCG 1 T/I mis14Minor allele frequency- C:0.01EU EA WA 420
    rs18004071,2
    		C,F25903913(-) CTCCCG/AGGGAC 1 Q/R mis110Minor allele frequency- A:0.03MN CSAM EA NA EU WA 906
    --
    rs351103891,2
    		C,F25876434(+) TGATGC/TGCTGA 1 R/H mis15Minor allele frequency- T:0.01NA EU EA WA 490
    About this table

    HapMap Linkage Disequilibrium images for OCA2 (up to first 250kb)

    Disorders & Mutations
    for OCA2

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 611409   disorders: 203200  203200  227220  227220  

    UniProtKB/Swiss-Prot: P_HUMAN, Q04671

  • Defects in OCA2 are the cause of oculocutaneous albinism type 2 (OCA2) [MIM:203200]. OCA2
    is an autosomal recessive form of albinism, a disorder of pigmentation in the skin, hair, and
    eyes. The phenotype of patients with OCA2 is typically somewhat less severe than in those with
    tyrosinase-deficient OCA1. There are several forms of OCA2, from typical OCA to relatively mild
    'autosomal recessive ocular albinism' (AROA). OCA2 is the most prevalent type of albinism
    throughout the world
  • The gene OCA2 is localized to chromosome 15 at 15q11.2-q12, a region associated with
    Prader-Willi and Angelman syndromes, suggesting that altered expression of the OCA2 gene may be
    responsible for the hypopygmentation phenotype exhibited by certain individuals with these
    disorders
  • Human pigmentation, including eye color, has been associated with skin cancer risk

    • 5 Novoseek disease relationships for OCA2 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    albinism oculocutaneous 94.51 16 17385796 (2), 17931990 (1), 8651291 (1), 18528436 (1) (see all 11)
    albinism 85.35 1 15889046 (1)
    chagas disease 33.37 1 7693813 (1)
    melanoma 19.50 3 15889046 (2), 14709592 (1)
    influenza 3.29 2 10600605 (1)
    About this table

    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
    Oculocutaneous Albinism Type 2

    Human Gene Mutation Database: OCA2
    Genetic Association Database: OCA2
    Human Genome Epidemiology Navigator: OCA2 (22 documents)

    Medical News
    for OCA2

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for OCA2

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/93 PubMed articles for OCA2 gene (see all 93 ):

    Search for OCA2

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing OCA2

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

    Other Databases showing OCA2

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing OCA2

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    Mutations of the P genehttp://www.retina-international.com/sci-news/pgenemut.htm
    Albinism database (ADB)http://albinismdb.med.umn.edu/oca2mut.html
    Protein Spotlighthttp://www.expasy.org/spotlight/back_issues/sptlt054.shtml
    GeneReviewshttp://www.genetests.org/query?gene=OCA2

    Licensable Technologies
    for OCA2

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for OCA2

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for OCA2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
    		  Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for OCA2-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for OCA2 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for OCA2 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
     Antibodies   Primer Pairs  
     Cell Culture Products   ELISAs  
     Flow Cytometry Kits   Protease Activity Assays & Reagents  
     Cell Selection/Detection Kits & Reagents   ELISA/Assay Development Kits & Reagents  
     Multiplex/Array Assay Kits & Reagents   ELISpot Kits & Development Modules  
     Recombinant & Natural Proteins  

     Recombinant Proteins (OCA2)
     Search for Antibodies
     Chimera RNAi (OCA2)
     Custom Service for Mouse Mab
     Custom Service for Rabbit Pab from Full-length Protein
      
     Search for Antibodies & Assays

     Recombinant Proteins
    (P protein)
     Antibodies (P protein)
     Search OriGene for OCA2
     Search Tocris compounds for OCA2




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for OCA2

    GeneCards Homepage    -    Last full update: 2 Jul 2009        Incremental update: 13 Oct 2009

    Random Gene From GIFtS : about GIFtS

    Gene Index:   3   5   A   B   C   D   E   F   G   H   I   J   K   L   M   N   O   P   Q   R   S   T   U   V   W   X   Y   Z

    Developed at the Crown Human Genome Center & Weizmann Institute of Science



    The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
    OCA2 Gene at Home site.
    Version 2.41.1
    server4.xennexinc.com