CLCN4 - chloride voltage-gated channel 4 Gene

中文名称：氯化物电压门控通道 4

种属: Homo sapiens

同用名: CLC4; ClC-4; MRX15; MRX49; ClC-4A; MRXSRC

基因 ID: 1183 | 基因类型: protein coding

关于 CLCN4

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:10,156,975-10,237,660 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues, 8 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 20.8), heart (RPKM 5.1) and 10 other tissues.

功能概要

电压依赖性氯离子通道基因的 CLCN 家族包含九个成员 (CLCN1-7、Ka 和 Kb) ，它们表现出相当多样的功能特征，同时具有显着的序列同源性。氯离子通道 4 具有一个进化上保守的 CpG 岛，在小鼠和仓鼠中都是保守的。该基因被定位在 APXL (顶端蛋白非洲爪蟾样) 和 OA1 (I 型眼白化病) 附近，它们都位于人类 X 染色体上的 p22.3 带。氯离子通道 4 的生理作用仍然未知，但可能有助于神经元疾病的发病机制。交替剪接导致编码不同蛋白质的两种转录变体。[RefSeq 提供，2012 年 3 月]

The CLCN family of voltage-dependent Chloride Channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride Channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of Chloride Channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]

CLCN4 基因产物(2)

mRNA	Protein	Name
NM_001256944.2	NP_001243873.1	H(+)/Cl(-) exchange transporter 4 isoform 2
NM_001830.4	NP_001821.2	H(+)/Cl(-) exchange transporter 4 isoform 1

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 antiporter activity	IDA IDA: 通过直接分析推断	28972156	GOA
enables antiporter activity	IMP IMP: 通过突变表型推断	23647072	GOA
enables chloride channel activity	IDA IDA: 通过直接分析推断	10564087	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within chloride transport	IDA IDA: 通过直接分析推断	10564087	GOA
involved in chloride transport	IMP IMP: 通过突变表型推断	23647072	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	17023393	GOA
located in endosome membrane	IDA IDA: 通过直接分析推断	28972156	GOA
located in lysosomal membrane	IDA IDA: 通过直接分析推断	28972156	GOA
located in recycling endosome	IDA IDA: 通过直接分析推断	28972156	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

CLCN4 蛋白结构

Voltage_CLC

CBS

0
200
400
600
760 a.a.

蛋白主名

其他名称

H(+)/Cl(-) exchange transporter 4

chloride channel 4

CLCN4 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	CLCN4	P51793	ABHD5	Homo sapiens	Q8WTS1	Y2H Prey Pooling	32296183
种属内	CLCN4	P51793	ABHD5	Homo sapiens	Q8WTS1	Validated Y2H	32296183
种属内	CLCN4	P51793	ABHD5	Homo sapiens	Q8WTS1	Y2H Array	32296183

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

Raynaud-Claes Syndrome

Mrx49	MRXSRC
Mental Retardation, X-Linked 49	Mrx15
Clcn4-Related X-Linked Intellectual Disability Syndrome	Mental Retardation, X-Linked 15
X-Linked Mental Retardation 15	X-Linked Mental Retardation 49
Mental Retardation, X-Linked-49

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Ocular Albinism

Albinism, Ocular	Oa
Xloa	Albinism Ocular

Acute Dacryocystitis

Dacryocystitis - Acute

Intestinal Impaction

Dent Disease 1

Dent Disease	Dent'S Disease
Dent Disease 2	Dent Disease Type 1
DENT1	Urolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis 2	Nphl2
Dent Syndrome	Dents Disease
Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis	Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets	X-Linked Recessive Nephrolithiasis
Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones	Nephrolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis-Hypercalciuria X-Linked Recessive	Nephrolithiasis, X-Linked Recessive
Dent Disease, Type 1

Acute Inflammation Of Lacrimal Passage

Dacryocystitis

Nasolacrimal Sac Infection

Neurodevelopmental Disorder With Involuntary Movements

NEDIM

Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form	Congenital Myotonia
Thomsen And Becker Disease	Thomsen Disease
Thomsen'S Disease	Generalized Myotonia Of Thomsen
Congenital Myotonic Muscular Dystrophy	Myotonia Congenita Nos

N Syndrome

NSX	Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets	X-Linked Recessive Hypophosphatemic Rickets
XLRHR	Hypophosphatemic Rickets Disorders
Rickets Hypophosphatemic	Rickets, Hypophosphatemic, X-Linked Recessive
Familial Hypophosphatemic Rickets

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

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-RS02756	CLCN4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	CLCN4	MGD	MGI:104571
Bos taurus	CLCN4	VGNC	VGNC:27398
Canis familiaris	CLCN4	VGNC	VGNC:39304
Felis catus	CLCN4	VGNC	VGNC:60926
Macaca mulatta	CLCN4	VGNC	VGNC:71237
Rattus norvegicus	CLCN4	RGD	RGD:708381

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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

粤ICP备2021105330号-3

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）

CLCN4 - chloride voltage-gated channel 4 Gene

关于 CLCN4

功能概要

CLCN4 基因产物(2)

CLCN4 蛋白结构

CLCN4 蛋白互作信息

关联疾病

直系同源

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CLCN4 - chloride voltage-gated channel 4 Gene

关于 CLCN4

功能概要

CLCN4 基因产物(2)

CLCN4 蛋白结构

CLCN4 蛋白互作信息

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

N

Q

S

T

X

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Z