OCA2 - OCA2 melanosomal transmembrane protein Gene

Also Known as P; BEY; PED; BEY1; BEY2; BOCA; EYCL; HCL3; EYCL2; EYCL3; SHEP1; D15S12

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4948

About OCA2

Cytogenetic location: 15q12-q13.1 Genomic coordinates (GRCh38): 15:27,719,008-28,099,315 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 196 orthologues, 5 paralogues and is associated with 9 phenotypes. Biased expression in skin (RPKM 1.8), thyroid (RPKM 1.2) and 8 other tissues.

Summary

This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

OCA2 Products (2)

mRNA	Protein	Name
NM_000275.3	NP_000266.2	P protein isoform 1
NM_001300984.2	NP_001287913.1	P protein isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chloride channel activity	IDA IDA: Inferred from direct assay	25513726	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19116314	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in lysosomal lumen pH elevation	IDA IDA: Inferred from direct assay	25513726	GOA
involved in melanin biosynthetic process from tyrosine	IDA IDA: Inferred from direct assay	25513726	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	19116314	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	19116314	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	19116314	GOA
located in melanosome membrane	IDA IDA: Inferred from direct assay	19116314	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OCA2 Protein Structure

CitMHS

0
200
400
600
800
838 a.a.

Protein Preferred Names	Protein Names
P protein	P-protein

Related Diseases

Diseases	Alias
Albinism, Oculocutaneous, Type Ii	OCA2 Oculocutaneous Albinism Type 2 Oculocutaneous Albinism Type Ii Albinoidism Tyrosinase-Positive Oculocutaneous Albinism Brown Oculocutaneous Albinism Oculocutaneous Albinism, Tyrosinase-Positive Albinism Ii Albinism, Brown Oculocutaneous Oculocutaneous Albinism, Type Ii, Modifier Of Oculocutaneous Albinism, Type Ii Albinism, Oculocutaneous, Type Ii, Modifier Of Albinism 2 Albinism, Oculocutaneous, Type 2 Oculocutaneous Albinism Tyrosinase Positive Oculocutaneous Albinism, Tyrosinase Positive Albinism, Oculocutaneous, 2 Boca Oca-2 Oculocutaneous Albinism Tyrosinase-Positive
Skin/Hair/Eye Pigmentation, Variation In, 1	SHEP1 Skin/Hair/Eye Pigmentation 1, Blue/Brown Eyes Eye Color, Brown/Blue Eye Color, Blue/Nonblue Eye Color 3 Eycl3 Brown Eye Color 2 Bey2 Hair Color 3 Hcl3 Skin/Hair/Eye Pigmentation 1, Blond/Brown Hair
Oculocutaneous Albinism	Albinism, Oculocutaneous Oca Albinism Oculocutaneous Oca - [Oculocutaneous Albinism]
Albinism
Angelman Syndrome Due To Maternal 15q11q13 Deletion	Angelman Syndrome Due To Maternal Monosomy 15q11q13
Prader-Willi Syndrome Due To Paternal Deletion Of 15q11q13 Type 1
Prader-Willi Syndrome Due To Paternal Deletion Of 15q11q13 Type 2
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Acute Contagious Conjunctivitis	Pink Eye Contagious Opthalmia Pinkeye Conjunctivitis Keratoconjunctivitis Due To Mycoplasma Conjunctivae
Acute Conjunctivitis
Albinism, Oculocutaneous, Type Iv	OCA4 Oculocutaneous Albinism Type 4 Oculocutaneous Albinism, Type Iv Oculocutaneous Albinism Type Iv Albinism, Oculocutaneous, 4
Albinism, Oculocutaneous, Type Ib	OCA1B Oculocutaneous Albinism Type 1b Albinism, Yellow Mutant Type Yellow Albinism Oculocutaneous Albinism Type Ib Temperature-Sensitive Oculocutaneous Albinism Type 1 Oculocutaneous Albinism, Type Ib Yellow Mutant Albinism Oca1-Ts Ts Oca Type 1 Oculocutaneous Albinism, Amish Type Platinum Oculocutaneous Albinism Yellow Oculocutaneous Albinism Albinism, Oculocutaneous, 1b Albinism Yellow Mutant Type Oca-Ib Oca-Its Oculocutaneous Albinism Type I Temperature-Sensitive Albinism, Oculocutaneous, Type I, Temperature-Sensitive Minimal Pigment Oculocutaneous Albinism
Albinism, Oculocutaneous, Type Iii	Rufous Oculocutaneous Albinism Oculocutaneous Albinism Type 3 OCA3 Roca Xanthism Oculocutaneous Albinism Type Iii Albinism Iii Oculocutaneous Albinism, Type Iii Albinism 3 Albinism, Oculocutaneous, Type 3 Rufous Oca Red Oculocutaneous Albinism Xanthous Oculocutaneous Albinism Albinism, Oculocutaneous, 3 Oca-Iii
Albinism, Oculocutaneous, Type Ia	Oculocutaneous Albinism Type 1 OCA1A Oca1 Oculocutaneous Albinism, Tyrosinase-Negative Atn Tyrosinase-Negative Oculocutaneous Albinism Albinism I Oculocutaneous Albinism Type Ia Oculocutaneous Albinism Type 1a Oculocutaneous Albinism, Type I Albinism 1 Oculocutaneous Albinism, Tyrosinase Negative Albinism, Oculocutaneous, 1a Albinism Oculocutaneous Ia Oca-1a Oca-Ia Oculocutaneous Albinism Tyrosinase Negative Albinism, Oculocutaneous, Type I
Ocular Albinism	Albinism, Ocular Oa Xloa Albinism Ocular
Rabies	Lyssa Hydrophobia St Hubert Disease
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Ichthyosis, Congenital, Autosomal Recessive 10	Autosomal Recessive Congenital Ichthyosis 10 ARCI10 Ichthyosis, Congenital, Autosomal Recessive, Type 10
Glycine Encephalopathy	Non-Ketotic Hyperglycinemia Nonketotic Hyperglycinemia NKH GCE Hyperglycinemia, Nonketotic Hyperglycinemia Nonketotic Infantile Glycine Encephalopathy Encephalopathy, Glycine Glycine Synthase Deficiency Nka Neonatal Glycine Encephalopathy Classic Glycine Encephalopathy Neonatal Nkh Neonatal Non-Ketotic Hyperglycinemia Infantile Nkh Infantile Non-Ketotic Hyperglycinemia Non-Ketotic Hyperglycinaemia Glycine Cleavage Deficiency Nonketotic Hyperglycinaemia
Pathologic Nystagmus	Nystagmus
Congenital Nystagmus	Nystagmus, Congenital Nystagmus Congenital
Griscelli Syndrome, Type 3	Griscelli Syndrome Type 3 GS3 Griscelli-Prunieras Syndrome Type 3 Hypomelanosis With No Immunologic Or Neurologic Manifestations Griscelli Syndrome 3
Piebald Trait	Piebaldism PBT Partial Albinism Albinoidism, Oculocutaneous, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Dominant Autosomal Dominant Cutis Laxa ADCL1 Adcl Autosomal Dominant Cutis Laxa 1 Cutis Laxa, Autosomal Dominant, 1 Cutis Laxa, Autosomal Dominant, Type 1
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Hermansky-Pudlak Syndrome 1	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells HPS1 Delta Storage Pool Disease Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Hermansky-Pudlak Syndrome, Type 1 Platelet Storage Pool Deficiency
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09739	OCA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	OCA2	VGNC	VGNC:54979
Macaca mulatta	OCA2	VGNC	VGNC:75575
Felis catus	OCA2	VGNC	VGNC:68614
Mus musculus	OCA2	MGD	MGI:97454
Rattus norvegicus	OCA2	RGD	RGD:2318412
Bos taurus	OCA2	VGNC	VGNC:50237
Others	OCA2	NCBI