OCA2 - OCA2 melanosomal transmembrane protein Gene

中文名称：OCA2 黑素体跨膜蛋白

种属: Homo sapiens

同用名: P; BEY; PED; BEY1; BEY2; BOCA; EYCL; HCL3; EYCL2; EYCL3; SHEP1; D15S12

基因 ID: 4948 | 基因类型: protein coding

关于 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.

功能概要

该基因编码小鼠 p (红眼稀释) 基因的人类同系物。编码的蛋白质被认为是参与小分子运输的完整膜蛋白，特别是酪氨酸，它是黑色素合成的前体。它与哺乳动物的色素沉着有关，可以控制皮肤颜色的变化并作为棕色或蓝色眼睛颜色的决定因素。该基因的突变会导致 2 型眼皮肤白化病。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

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 基因产物(2)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables chloride channel activity	IDA IDA: 通过直接分析推断	25513726	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	19116314	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in lysosomal lumen pH elevation	IDA IDA: 通过直接分析推断	25513726	GOA
involved in melanin biosynthetic process from tyrosine	IDA IDA: 通过直接分析推断	25513726	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	19116314	GOA
located in endosome membrane	IDA IDA: 通过直接分析推断	19116314	GOA
located in lysosomal membrane	IDA IDA: 通过直接分析推断	19116314	GOA
located in melanosome membrane	IDA IDA: 通过直接分析推断	19116314	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

OCA2 蛋白结构

CitMHS

0
200
400
600
838 a.a.

蛋白主名

其他名称

P protein

P-protein

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09739	OCA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

OCA2 - OCA2 melanosomal transmembrane protein Gene

关于 OCA2

功能概要

OCA2 基因产物(2)

OCA2 蛋白结构

关联疾病

直系同源

热门区域

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OCA2 - OCA2 melanosomal transmembrane protein Gene

关于 OCA2

功能概要

OCA2 基因产物(2)

OCA2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

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Q

S

T

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