Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

OCA2 Gene

protein-coding GIFtS: 60
GCID: GC15M028000

oculocutaneous albinism II

(Previous names: oculocutaneous albinism II (pink-eye dilution (murine)...)
(Previous symbols: D15S12, P, EYCL3, EYCL2)

Explore 39 diseases affiliated with
OCA2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Oculocutaneous Albinism II¹ ²		Oculocutaneous Albinism II (Pink-Eye Dilution Homolog, Mouse)¹ ²
D15S12¹ ² ³ ⁵		Melanocyte-Specific Transporter Protein² ³
P¹ ² ³ ⁵		Pink-Eyed Dilution Protein Homolog² ³
EYCL3¹ ² ⁵		BOCA² ⁵
BEY¹ ²		HCL3² ⁵
BEY1¹ ²		PED² ⁵
BEY2¹ ²		SHEP1² ⁵
EYCL¹ ²		Oculocutaneous Albinism II (Pink-Eye Dilution (Murine) Homolog)¹
EYCL2¹ ²		Hair Color 3 (Brown)²
Eye Color 2 (Central Brown)¹ ²		P Protein²
Eye Color 3 (Brown)¹ ²		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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene 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, Jul 2008)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_026446.14

Regulatory elements:

SABiosciences 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 plasmid: OCA2 promoter sequence

Search SABiosciences Chromatin IP Primers for OCA2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 (No experimental confirmation available)

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q04671

OCA2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000266.2

ENSEMBL proteins:

ENSP00000261276 ENSP00000346659 ENSP00000414425 ENSP00000415431 ENSP00000372457

Human Recombinant Protein Products for OCA2:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: OCA2 OriGene Custom Protein Services for OCA2
	GenScript Custom Purified and Recombinant Proteins Services for OCA2
	Novus Biologicals OCA2 Protein Novus Biologicals OCA2 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for OCA2

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	TAS	7601462
GO:0005765	lysosomal membrane	IDA	19116314
GO:0005789	endoplasmic reticulum membrane	IDA	19116314
GO:0010008	endosome membrane	IDA	19116314
GO:0016021	integral to membrane	IEA	--

OCA2 for ontologies About GeneDecksing

OCA2 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for OCA2
	GenScript Custom Superior Antibodies Services for OCA2
	Novus Biologicals OCA2 Antibodies
	Abcam antibodies for OCA2
	Uscn Antibodies for OCA2
	ThermoFisher Antibodies for OCA2

Assay Products for OCA2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for OCA2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for OCA2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

OCA2 for domains About GeneDecksing

2 InterPro domains/families:

IPR004680 Cit_transptr-like_dom

IPR000802 Arsenical_pump_ArsB

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	TAS	8421497
GO:0005302	L-tyrosine transmembrane transporter activity	TAS	7601462
GO:0005515	protein binding	IPI	19116314
GO:0015105	arsenite transmembrane transporter activity	IEA	--

OCA2 for ontologies About GeneDecksing

Phenotypes:
15/21 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	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system
integument	limbs/digits/tail	liver/biliary system	mortality/aging	no phenotypic analysis

OCA2 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for OCA2

miRNA Products:		OriGene 3'-UTR Clone: OCA2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OCA2
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate OCA2:
		hsa-miR-3163 hsa-miR-3920
		SwitchGear 3'UTR luciferase reporter plasmid: OCA2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OCA2 OriGene shRNA RFP: OCA2 OriGene siRNA: OCA2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OCA2
		Sirion Biotech Custom design and validation of potent shRNA sequences against OCA2

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for OCA2
			Sirion Biotech Customized adenovirus for overexpression of OCA2 Sirion Biotech Customized adenovirus for potent knockdown of OCA2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OCA2 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, 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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for OCA2
		Search LifeMap BioReagents cell lines for OCA2
		Sirion Biotech Customized stable knockdown cell line services for OCA2 Sirion Biotech Customized inducible knockdown cell line services for OCA2 Sirion Biotech Customized stable overexpressing cell line services for OCA2 Sirion Biotech Customized inducible overexpressing cell line services for OCA2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCA2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

glycine cleavage

glycine cleavage

1.00

1 BioSystems Pathway for OCA2

glycine cleavage

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins 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

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AMT	ENSP00000273588⁴	STRING: ENSP00000273588
DLD	ENSP00000205402⁴	STRING: ENSP00000205402
T	ENSP00000296946⁴	STRING: ENSP00000296946

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006726	eye pigment biosynthetic process	TAS	8421497
GO:0006810	transport	--	--
GO:0007286	spermatid development	IEA	--
GO:0008283	cell proliferation	IEA	--
GO:0015700	arsenite transport	IEA	--

OCA2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for OCA2

1 HMDB Compound for OCA2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Melanin		8049-97-6	--

Search CenterWatch for drugs/clinical trials and news about OCA2 / P

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000353809(uc010ayv.3) ENST00000354638(uc001zbh.4) ENST00000478435

ENST00000445578 ENST00000431101 ENST00000382996

miRNA Products:		OriGene 3'-UTR Clone: OCA2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OCA2
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate OCA2:
		hsa-miR-3163 hsa-miR-3920
		SwitchGear 3'UTR luciferase reporter plasmid: OCA2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OCA2 OriGene shRNA RFP: OCA2 OriGene siRNA: OCA2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OCA2
		Sirion Biotech Custom design and validation of potent shRNA sequences against OCA2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OCA2 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, 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)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for OCA2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCA2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OCA2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat OCA2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OCA2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OCA2

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 M99564 NM_000275 BC012097 BX283620 AA062643 BX398277 AI097486

BG388843 BU681148 BM926459 T29709 AA063005 BG765188 BU728954 BI549288

BG760895 H98884 BM764701 CB994934 BM695542 BX375094 R52315 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

OCA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTAAAATAAT

About this image

OCA2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See OCA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for OCA2

SOURCE GeneReport for Unigene cluster: Hs.654411

SABiosciences Custom PCR Arrays for OCA2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OCA2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat OCA2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OCA2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OCA2

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)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for OCA2 gene from 8/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Oca2^{1 , 5}	oculocutaneous albinism II^{1, 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	70.37(n) 70.58(a)		428009 XM_425579.3 XP_425579.3
lizard (Anolis carolinensis)	Reptilia	OCA2⁶	--	73(a)	1 ↔ 1	3(111316776-111448389)
zebrafish (Danio rerio)	Actinopterygii	oca2¹	oculocutaneous albinism II	66.18(n) 67.9(a)		567419 XM_690715.5 XP_695807.5
fruit fly (Drosophila melanogaster)	Insecta	hoe2³	tyrosine transporter	40(a) (best of 3)		25B4 --
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G02260⁶	Divalent ion symporter	20(a)	1 ↔ 1	1(440441-442877)
rice (Oryza sativa)	Liliopsida	-- -- (see all 5)	expressed protein (see all 5)	21(a) 20(a) (see all 5)	possible ortholog possible ortholog (see all 5)	3(429476-431876) 10(21345770-21348374)
E. coli (Escherichia coli)	Gamma proteobacteria	ybiR⁶ arsB⁶	arsenite/antimonite transporter	23(a) 20(a)	possible ortholog 1 ↔ 1	Chromosome(852870-853988) Chromosome(3646958-3648247)

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)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: P_HUMAN, Q04671

Polymorphism: 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

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918170^1,2	C,F	pathogenic	28228529(-)	`CTCCAA/GATGTC`	2	N D	mis¹		1		NA	4552
rs74653330^1,2	C,F	pathogenic	28228553(-)	`GAGCTG/ACCACT`	2	/T /A	mis¹		4		NA EA EU	6113
rs121918166^1,2	C,F	pathogenic	28230247(-)	`ACAACG/ATCACC`	2	/I /V	mis¹		2		NA EU	5795
rs1800407^1,2	C,F,H	pathogenic	28230318(-)	`CTCCCG/AGGGAC`	2	/Q /R	mis¹		21		MN NS NA EA EU	7910
rs1800401^1,2	C,F	pathogenic	28260053(-)	`GCATCC/TGGGCC`	2	R W	mis¹		15		MN NA WA EU	6730
rs11314322^1,2	C	--	6407556(+)	`TTCTA-/TTAATT`	1	--	int¹		1		NA	2
rs113671800^1,2		--	27999811(+)	`GTGTAC/TGTCTG`	1	--	ds500¹		2		CSA WA	120
rs12903914^1,2	C,F,H	--	27999836(+)	`ATAGCA/GTGCAC`	1	--	ds500¹		16		NS EA NA	1834
rs3743194^1,2	H	--	28000007(+)	`TGTAAA/GCTACT`	1	--	ds500¹		4		NS EA	416
rs112155098^1,2	C	--	28000163(+)	`ACAAAC/GTGTGT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for OCA2 (28000021 - 28250021 bp, first 250kb of OCA2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for OCA2
2 CNVs: 39162 47850
Human Gene Mutation Database (HGMD): OCA2

Locus Specific Mutation Databases (LSDB): OCA2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OCA2

DNA2.0 Custom Variant and Variant Library Synthesis for OCA2

(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.)
About This Section

OCA2 for disorders           About GeneDecksing

OMIM gene information: 611409
OMIM disorders: 203200  227220
UniProtKB/Swiss-Prot: P_HUMAN, Q04671

Defects in OCA2 are the cause of albinism oculocutaneous type 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

20/39 diseases for OCA2 (see all 39): About MalaCards

oculocutaneous albinism skin/hair/eye pigmentation 1, blond/brown hair skin/hair/eye pigmentation 1, blue/nonblue eyes albinism

albinism, brown oculocutaneous estrogen-receptor negative breast cancer oculocutaneous albinism type 2 hermansky-pudlak syndrome

oculocutaneous albinism type 1 subacute sclerosing panencephalitis prader-willi syndrome ocular albinism

cutaneous malignant melanoma congenital nystagmus systemic lupus erythematosus nystagmus

borna disease lupus erythematosus sickle cell disease newcastle disease

8 diseases from the University of Copenhagen DISEASES database for OCA2:

Oculocutaneous albinism Glycine encephalopathy Systemic lupus erythematosus Ocular albinism

Rabies Subacute sclerosing panencephalitis Hermansky-Pudlak syndrome Measles

5 Novoseek 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

Oculocutaneous Albinism Type 2

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)
About This Section

PubMed articles for OCA2 gene, integrated from 9 sources (see all 123):
(articles sorted by number of sources associating them with OCA2)

Utopia: connect your pdf to the dynamic
world of online information

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. (2005)
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. (PubMed id 17236130)^{1, 2, 9} Duffy D.L.... Sturm R.A. (2007)
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. (2001)
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. (PubMed id 18252221)^{1, 2} Kayser M.... van Duijn C.M. (2008)
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. (PubMed id 18252222)^{1, 2} Sturm R.A.... Montgomery G.W. (2008)
Genetic determinants of hair, eye and skin pigmentation in Europeans. (PubMed id 17952075)^{1, 2} Sulem P.... Stefansson K. (2007)
Eye colour: portals into pigmentation genes and ancestry. (PubMed id 15262401)^{1, 2} Sturm R.A. and Frudakis T.N. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). (PubMed id 12876664)^{1, 2} King R.A.... Oetting W.S. (2003)
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). (PubMed id 12727022)^{1, 2} Kato A....Ishii M. (2003)

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

		AND	OR
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)
About This Section

Entrez Gene: 4948	HGNC: 8101	AceView: OCA2	Ensembl:ENSG00000104044	euGenes: HUgn4948
ECgene: OCA2	H-InvDB: OCA2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for OCA2	Pharmacogenomics, SNPs, Pathways
Mutations of the P gene	http://www.retina-international.org/files/sci-news/pgenemut.htm
Albinism database (ADB)	http://albinismdb.med.umn.edu/oca2mut.html
Protein Spotlight	http://web.expasy.org/spotlight/back_issues/sptlt054.shtml
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OCA2

Intellectual Property for OCA2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for OCA2
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OCA2		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OCA2
	OriGene Protein Over-expression Lysate for OCA2		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for OCA2		OriGene 3'-UTR Clone for OCA2
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OCA2		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OCA2
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for OCA2		OriGene Custom Protein Services for OCA2
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OCA2
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OCA2
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OCA2
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OCA2
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OCA2
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OCA2

	GenScript Custom Purified and Recombinant Proteins Services for OCA2		GenScript cDNA clones with any tag delivered in your preferred vector for OCA2
	GenScript Custom Assay Services for OCA2		GenScript Custom Superior Antibodies Services for OCA2
	GenScript Custom overexpressing Cell Line Services for OCA2		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in OCA2 promoter
	Search Chromatin IP Primers for OCA2
	RT² qPCR Primer Assay in human, mouse, rat OCA2
	GNC Network for OCA2
	SABiosciences Custom PCR Arrays for OCA2

Search Tocris compounds for OCA2

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	OCA2 antibodies
	OCA2 proteins
	OCA2 lysates

	Antibodies for OCA2
	See all of Abcam's Antibodies, Kits and Proteins for OCA2
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

OCA2 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for OCA2

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCA2

	SwitchGear 3'UTR luciferase reporter plasmids for OCA2
	SwitchGear Promoter luciferase reporter plasmids for OCA2

ThermoFisher Antibodies for OCA2

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OCA2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for OCA2

Sirion Biotech Customized:

	stable knockdown cell line services for OCA2
	inducible knockdown cell line services for OCA2
	design and validation of potent shRNA sequences against OCA2
	adenovirus for potent knockdown of OCA2
	adenovirus for overexpression of OCA2
	stable overexpressing cell line services for OCA2
	inducible overexpressing cell line services for OCA2

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes OCA2 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

OCA2 Gene

oculocutaneous albinism II

Aliases
for OCA2 gene

Summaries
for OCA2 gene

Genomic Views
for OCA2 gene

Proteins
for OCA2 gene

Protein Domains /
Families
for OCA2 gene

Function
for OCA2 gene

Pathways & Interactions
for OCA2 gene

Drugs & Compounds
for OCA2 gene

Transcripts
for OCA2 gene

Expression
for OCA2 gene

Orthologs
for OCA2 gene

Paralogs
for OCA2 gene

Genomic Variants
for OCA2 gene

Disorders / Diseases
for OCA2 gene

Publications
for OCA2 gene

External Searches for OCA2 gene

Genome Databases showing OCA2 gene

Other Databases showing OCA2 gene

Specialized Databases showing OCA2 gene

Intellectual Property
for OCA2 gene

Products
for OCA2 gene

View Random Gene

OCA2 (Gene Symbol)
Oculocutaneous Albinism II
D15S12
P
EYCL3
BEY
BEY1
BEY2
EYCL
EYCL2
Eye Color 2 (Central Brown)
Eye Color 3 (Brown)
Oculocutaneous Albinism II (Pink-Eye Dilution Homolog, Mouse)
Melanocyte-Specific Transporter Protein
Pink-Eyed Dilution Protein Homolog
BOCA
HCL3
PED
SHEP1
Oculocutaneous Albinism II (Pink-Eye Dilution (Murine) Homolog)
Hair Color 3 (Brown)
P Protein
Total Brown Iris Pigmentation

Advanced Search

Export list of displayed genes

OCA2 Gene

oculocutaneous albinism II

Aliasesfor OCA2 gene

Summariesfor OCA2 gene

Genomic Viewsfor OCA2 gene

Proteinsfor OCA2 gene

Protein Domains /Familiesfor OCA2 gene

Functionfor OCA2 gene

Pathways & Interactionsfor OCA2 gene

Drugs & Compoundsfor OCA2 gene

Transcriptsfor OCA2 gene

Expression for OCA2 gene

Orthologsfor OCA2 gene

Paralogsfor OCA2 gene

Genomic Variantsfor OCA2 gene

Disorders / Diseasesfor OCA2 gene

Publicationsfor OCA2 gene

External Searches for OCA2 gene

Genome Databases showing OCA2 gene

Other Databases showing OCA2 gene

Specialized Databases showing OCA2 gene

Intellectual Propertyfor OCA2 gene

Productsfor OCA2 gene

View Random Gene

Aliases
for OCA2 gene

Summaries
for OCA2 gene

Genomic Views
for OCA2 gene

Proteins
for OCA2 gene

Protein Domains /
Families
for OCA2 gene

Function
for OCA2 gene

Pathways & Interactions
for OCA2 gene

Drugs & Compounds
for OCA2 gene

Transcripts
for OCA2 gene

Expression
for OCA2 gene

Orthologs
for OCA2 gene

Paralogs
for OCA2 gene

Genomic Variants
for OCA2 gene

Disorders / Diseases
for OCA2 gene

Publications
for OCA2 gene

Intellectual Property
for OCA2 gene

Products
for OCA2 gene