GJD3 - gap junction protein delta 3 Gene

中文名称：缝隙连接蛋白 delta 3

种属: Homo sapiens

同用名: GJC1; GJA11; CX31.9; Cx30.2

基因 ID: 125111 | 基因类型: protein coding

关于 GJD3

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:40,360,652-40,364,737 (from NCBI)

This gene has 1 transcript (splice variant), 134 orthologues and 20 paralogues.

功能概要

该基因是缝隙连接形成所需的连接蛋白大家族的成员。六个连接蛋白单体在细胞表面形成半通道或连接子。该连接子可以与相邻细胞的连接子相互作用，从而形成连接两个细胞细胞质的通道。[RefSeq 提供，2008 年 7 月]

This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]

GJD3 基因产物(1)

mRNA	Protein	Name
NM_152219.4	NP_689343.3	gap junction delta-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 protein binding	IPI IPI: 通过物理相互作用推断	12154091	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
NOT involved in AV node cell to bundle of His cell communication by electrical coupling	IEP IEP: 通过表达模式推断	19168070	GOA
NOT involved in cell communication involved in cardiac conduction	IEP IEP: 通过表达模式推断	19168070	GOA
involved in gap junction assembly	IDA IDA: 通过直接分析推断	12154091	GOA
NOT involved in negative regulation of cell communication by electrical coupling involved in cardiac conduction	IEP IEP: 通过表达模式推断	19168070	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell surface	IDA IDA: 通过直接分析推断	12154091	GOA
part of connexin complex	IDA IDA: 通过直接分析推断	12154091	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

GJD3 蛋白结构

Connexin

0
100
200
294 a.a.

蛋白主名

其他名称

gap junction delta-3 protein

connexin-31.9

GJD3 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	GJD3	Q8N144	TJP1	Homo sapiens	Q07157	Pull Down	12154091
种属内	GJD3	Q8N144	TJP1	Homo sapiens	Q07157	Anti Bait CoIP	12154091

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Progressive Familial Heart Block, Type Ib

Progressive Familial Heart Block Type Ib	PFHB1B
Pfhbib	Progressive Familial Heart Block Type 1b
Heart Block Progressive Familial Type 1b	Progressive Familial Heart Block 1b
Cardiac Conduction Block	Right-Bundle Branch Block
Heart Block, Familial, Progressive, Type 1b	Heart Block
Right Bundle Branch Block

Testicular Thecoma

Hereditary Lymphedema Ic

Lymphedema, Hereditary, Ic

Lmph1c

Bart-Pumphrey Syndrome

Knuckle Pads, Leukonychia, And Sensorineural Deafness	BAPS
Knuckle Pads, Leuconychia And Sensorineural Deafness	Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome	Knuckle Pads, Deafness And Leukonychia Syndrome
Knuckle Pads, Deafness, And Leukonychia Syndrome	Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome

Leukodystrophy, Hypomyelinating, 2

Pmld1	Hypomyelinating Leukodystrophy 2
HLD2	Pelizaeus-Merzbacher-Like Disease 1
Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation	Pelizaeus-Merzbacher-Like Disease Type 1
Pelizaeus-Merzbacher-Like Disease, 1	Pelizaeus Merzbacher Like Disease
Pelizaeus-Merzbacher-Like Disease	Pmld - Pelizaeus Merzbacher Like Disease
Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1	Pmldar1
Leukodystrophy, Hypomyelinating, Type 2

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

Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Pattern	Wpw Syndrome
Anomalous Atrioventricular Excitation	Anomalous A-V Excitation
Ventricular Pre-Excitation With Arrhythmia	WPWS
Ventricular Familial Preexcitation Syndrome	Preexcitation Syndrome
Ventricular Preexcitation	Wpw - [Wolff-Parkinson- White] Syndrome
Pre-Excitation Syndrome

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

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-RS05456	GJD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	GJD3	VGNC	VGNC:99066
Canis familiaris	GJD3	VGNC	VGNC:110496
Rattus norvegicus	GJD3	RGD	RGD:1308942
Mus musculus	GJD3	MGD	MGI:2384150
Macaca mulatta	GJD3	VGNC	VGNC:72968

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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）

GJD3 - gap junction protein delta 3 Gene

关于 GJD3

功能概要

GJD3 基因产物(1)

GJD3 蛋白结构

GJD3 蛋白互作信息

关联疾病

直系同源

热门区域

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GJD3 - gap junction protein delta 3 Gene

关于 GJD3

功能概要

GJD3 基因产物(1)

GJD3 蛋白结构

GJD3 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z