1. Gene
  2. CLCN3 - chloride voltage-gated channel 3 Gene

CLCN3 - chloride voltage-gated channel 3 Gene

中文名称:氯化物电压门控通道 3

种属: Homo sapiens

同用名: CLC3; ClC-3; NEDSBA; NEDHYBA

基因 ID: 1182 | 基因类型: protein coding

关于 CLCN3

Cytogenetic location: 4q33 Genomic coordinates (GRCh38): 4:169,620,578-169,723,673 (from NCBI)

This gene has 9 transcripts (splice variants), 209 orthologues, 8 paralogues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 27.7), colon (RPKM 19.9) and 25 other tissues.

功能概要

该基因编码电压门控氯离子通道 (ClC) 家族的成员。编码的蛋白质存在于所有细胞类型中,并定位于质膜和细胞内囊泡中。它是一种多通道膜蛋白,包含一个 ClC 结构域和两个额外的 C 末端 CBS (胱硫醚 β 合酶) 结构域。 ClC 结构域催化 Cl- 离子选择性地流过细胞膜,而 CBS 结构域可能具有调节功能。这种蛋白质在 GABA 能突触小泡的酸化和递质加载以及平滑肌细胞活化和新内膜形成中发挥作用。这种蛋白质是溶血磷脂酸 (LPA) 激活的 Cl-电流活性和成纤维细胞向肌成纤维细胞分化所必需的。蛋白质活性受神经胶质瘤细胞中 CA (2+) /钙调蛋白依赖性蛋白激酶 II (CaMKII) 的调节。已经鉴定出编码不同同种型的多个选择性剪接的转录物变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a member of the voltage-gated Chloride Channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by CA(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

CLCN3 基因产物(4)

mRNA Protein Name
NM_001243372.2 NP_001230301.1 H(+)/Cl(-) exchange transporter 3 isoform a
NM_001243374.2 NP_001230303.2 H(+)/Cl(-) exchange transporter 3 isoform c
NM_001829.4 NP_001820.2 H(+)/Cl(-) exchange transporter 3 isoform b
NM_173872.4 NP_776297.2 H(+)/Cl(-) exchange transporter 3 isoform e
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 PDZ domain binding IDA
IDA: 通过直接分析推断
12471024 GOA
enables chloride channel activity IDA
IDA: 通过直接分析推断
11274166 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12471024 GOA
enables volume-sensitive chloride channel activity IMP
IMP: 通过突变表型推断
12183454 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chloride transmembrane transport IDA
IDA: 通过直接分析推断
11274166 GOA
involved in negative regulation of cell volume IMP
IMP: 通过突变表型推断
12183454 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in GABA-ergic synapse IDA
IDA: 通过直接分析推断
11182090 GOA
is active in GABA-ergic synapse IMP
IMP: 通过突变表型推断
11182090 GOA
located in Golgi apparatus IDA
IDA: 通过直接分析推断
12471024 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
11274166 GOA
located in early endosome IDA
IDA: 通过直接分析推断
12471024 GOA
located in external side of plasma membrane IDA
IDA: 通过直接分析推断
11274166 GOA
is active in glutamatergic synapse IDA
IDA: 通过直接分析推断
11182090 GOA
is active in glutamatergic synapse IMP
IMP: 通过突变表型推断
11182090 GOA
located in late endosome IDA
IDA: 通过直接分析推断
12471024 GOA
located in phagocytic vesicle IDA
IDA: 通过直接分析推断
16522634 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11274166 GOA
located in secretory granule IDA
IDA: 通过直接分析推断
16522634 GOA
located in specific granule IDA
IDA: 通过直接分析推断
16522634 GOA
located in synaptic vesicle IDA
IDA: 通过直接分析推断
11182090 GOA
is active in synaptic vesicle membrane IDA
IDA: 通过直接分析推断
11182090 GOA
is active in synaptic vesicle membrane IMP
IMP: 通过突变表型推断
11182090 GOA
located in vesicle membrane IDA
IDA: 通过直接分析推断
12471024 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

CLCN3 蛋白结构

Voltage_CLC

Voltage_CLC: Voltage gated chloride channel (221 - 622)

CBS

CBS: CBS domain (753 - 804)

  • 0
  • 200
  • 400
  • 600
  • 818 a.a.
蛋白主名 其他名称

H(+)/Cl(-) exchange transporter 3

chloride channel 3

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Seizures And Brain Abnormalities

NEDSBA

Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities

NEDHYBA

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Juxtacortical Chondrosarcoma
Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

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

Glioma
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

Bartter Disease

Bartter Syndrome

Bartter'S Syndrome

Aldosteronism With Hyperplasia Of The Adrenal Cortex

Hypokalemic Alkalosis With Hypercalciuria

Potassium Wasting

Juxtaglomerular Hyperplasia With Secondary Aldosteronism

Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria

Salt-Losing Tubular Disorder, Henle'S Loop Type

Salt-Wasting Tubulopathy, Henle'S Loop Type

Bartters 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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CLCN3 RGD RGD:621219
Bos taurus CLCN3 VGNC VGNC:27397
Felis catus CLCN3 VGNC VGNC:60925
Macaca mulatta CLCN3 VGNC VGNC:71236
Canis familiaris CLCN3 VGNC VGNC:39303
Mus musculus CLCN3 MGD MGI:103555