GJA3 - gap junction protein alpha 3 Gene

中文名称：缝隙连接蛋白α3

种属: Homo sapiens

同用名: CX46; CZP3; CTRCT14

基因 ID: 2700 | 基因类型: protein coding

关于 GJA3

Cytogenetic location: 13q12.11 Genomic coordinates (GRCh38): 13:20,138,255-20,161,565 (from NCBI)

This gene has 1 transcript (splice variant), 237 orthologues, 20 paralogues and is associated with 6 phenotypes. Biased expression in heart (RPKM 3.2), placenta (RPKM 1.8) and 3 other tissues.

功能概要

该基因编码的蛋白质是连接蛋白，是晶状体纤维间隙连接的组成部分。该基因的缺陷是 3 型小带状粉状白内障 (CZP3) 的原因。[RefSeq 提供，2010 年 1 月]

The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

GJA3 基因产物(1)

mRNA	Protein	Name
NM_021954.4	NP_068773.2	gap junction alpha-3 protein

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 gap junction hemi-channel activity	IDA IDA: 通过直接分析推断	30044662	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in gap junction-mediated intercellular transport	IDA IDA: 通过直接分析推断	30044662	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of connexin complex	IDA IDA: 通过直接分析推断	30044662	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	30044662	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

GJA3 蛋白结构

Connexin

0
100
200
300
400
435 a.a.

蛋白主名

其他名称

gap junction alpha-3 protein

connexin-46

关联疾病

疾病名称

别名

Cataract 14, Multiple Types

Cataract 14 Multiple Types	CTRCT14
Czp3	Cae3
Cataract, Zonular Pulverulent 3	Zonular Pulverulent Cataract 3
Cataract, Zonular Pulverulent-3	Cataract, Type 14, Multiple Types

Congenital Cataracts, Facial Dysmorphism, And Neuropathy

CCFDN	Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Congenital, With Facial Dysmorphism And Neuropathy	Cataracts, Congenital, Facial Dysmorphism, And Neuropathy

Early-Onset Posterior Polar Cataract

Cataract 30, Multiple Types

CTRCT30	Cataract 30, Pulverulent
Pulverulent Cataract	Coppock-Like Cataract
Dusty Cataract	Pulverulent Cataract 30
Cataract 30	Cataract, Pulverulent

Early-Onset Nuclear Cataract

Cataract 1, Multiple Types

Cataract 1 Multiple Types	CTRCT1
Cataract 1, Multiple Types, With Or Without Microcornea	Czp1
Cae1	Pulverulent Zonular Cataract
Cataract, Duffy-Linked	Cataract, Zonular Pulverulent, 1
Duffy Linked Cataract	Zonular Pulverulent Cataract 1
Cataract Duffy-Linked	Cataract-Microcornea Syndrome
Cataract Zonular Pulverulent 1	Ccmc
Cznp	Czp
Zonular Nuclear Pulverulent Cataract	Cataract, Zonular Pulverulent-1
Zonular Pulverulent Cataract	Cataract, Zonular Pulverulent 1
Cataract Microcornea Syndrome

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Posterior Polar Cataract

Cataract, Posterior Polar

Oculodentodigital Dysplasia

Odd Syndrome	ODDD
Oculodentoosseous Dysplasia	Oculodentodigital Syndrome
Odod	Oculo-Dento-Digital Dysplasia
Oculo-Dento-Digital Syndrome	Oculo-Dento-Osseous Dysplasia
Osseous-Oculo-Dental Dysplasia	Meyer-Schwickerath Syndrome
Oddd Syndrome	Oculo Dento Digital Dysplasia
Odds	Oculodentodigital Dysplasia Syndrome

Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Hallermann-Streiff Syndrome

Francois Dyscephalic Syndrome	HSS
Hallermann'S Syndrome	Oculomandibulofacial Syndrome
Hallerman - Streiff Syndrome	François Dyscephalic Syndrome
Hallermann Streiff Francois Syndrome	Hallermann Streiff Syndrome

Lens Disease

Lens Diseases

Eye Accommodation Disease

Nance-Horan Syndrome

NHS	Cataract-Dental Syndrome
Cataract, X-Linked, With Hutchinsonian Teeth	Mesiodens-Cataract Syndrome
Cataract X-Linked With Hutchinsonian Teeth	Cataract Dental Syndrome
Mesiodens Cataract Syndrome

Senile Cataract

Amblyopia

Lazy Eye

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia	CMDD
Cmdj	Cmd
Autosomal Dominant Craniometaphyseal Dysplasia	Craniometaphyseal Dysplasia, Jackson Type
Craniometaphyseal Dysplasia Jackson Type	Autosomal Recessive Craniometaphyseal Dysplasia
Cmdr	Dysplasia, Craniometaphyseal, Autosomal Dominant
Craniometaphyseal Dysplasia, Autosomal Recessive Type

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis	Erythrokeratodermia Variabilis Et Progressiva
Greither Disease	Ekv
Ekvp	PSEK
Erythrokeratodermia Variabilis With Erythema Gyratum Repens	Keratosis Palmoplantaris Transgrediens Et Progrediens
Transgrediens Et Progrediens Palmoplantar Keratoderma	EKVP1
Erythrokeratodermia, Progressive Symmetric	Erythrokeratodermia Figurata, Congenital Familial, In Plaques
Keratoderma Palmoplantaris Transgrediens	Keratosis Extremitatum Hereditaria Progrediens
Erythrokeratodermia Variabilis, Mendes Da Costa Type	Progressive Symmetric Erythrokeratodermia
Erythrokeratodermia Figurata Variabilis	Greither'S Disease
Ekv-P	Erythrokeratodermia Variabilis Of Mendes Da Costa
Progressive Symmetrical Erythrokeratoderma Of Gottron	Progressive Diffuse Ppk
Progressive Diffuse Palmoplantar Keratoderma	Transgrediens Et Progrediens Ppk
Darier-Gottron Disease	Erythrokeratodermia Progressiva Symmetrica
Progressive Symmetric Erythrokeratodermia, Gottron Type	Congenital Familial Erythrokeratodermia Figurata In Plaques
Erythrokeratodermia Progressive Symmetric	Erythrokeratodermia Variabilis Mendes Da Costa Type

Aniridia 1

Aniridia	Congenital Aniridia
AN1	An
Cataract With Late-Onset Corneal Dystrophy	Aplasia Of Iris
Absent Iris	Irideremia
Aniridia Ii, Formerly	An2, Formerly
An2	Aniridia Type Ii
Aniridia, Type 1	An-1
Absence Of Iris	Agenesis Of Iris
Congenital Absence Of Iris	Hereditary Aniridia
Sporadic Aniridia

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

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-RS05442	GJA3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	GJA3	RGD	RGD:621820
Canis familiaris	GJA3	VGNC	VGNC:41233
Mus musculus	GJA3	MGD	MGI:95714
Macaca mulatta	GJA3	VGNC	VGNC:106262
Bos taurus	GJA3	VGNC	VGNC:29372

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