1. Gene
  2. CLIC6 - chloride intracellular channel 6 Gene

CLIC6 - chloride intracellular channel 6 Gene

中文名称:氯离子胞内通道 6

种属: Homo sapiens

同用名: CLIC1L

基因 ID: 54102 | 基因类型: protein coding

关于 CLIC6

Cytogenetic location: 21q22.12 Genomic coordinates (GRCh38): 21:34,668,994-34,718,223 (from NCBI)

This gene has 2 transcripts (splice variants), 223 orthologues and 14 paralogues. Biased expression in stomach (RPKM 24.4), thyroid (RPKM 6.8) and 10 other tissues.

功能概要

该基因编码氯离子细胞内通道蛋白质家族的成员。该基因是 1 号、6 号和 21 号染色体上发现的一个大的三重区域的一部分。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供,2015 年 11 月]

This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]

CLIC6 基因产物(2)

mRNA Protein Name
NM_001317009.2 NP_001303938.1 chloride intracellular channel protein 6 isoform 1
NM_053277.3 NP_444507.1 chloride intracellular channel protein 6 isoform 2
基因本体论
  • 分子功能
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
37838179 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

CLIC6 蛋白结构

GST_N_3

GST_N_3: Glutathione S-transferase, N-terminal domain (487 - 553)

GST_C_2

GST_C_2: Glutathione S-transferase, C-terminal domain (589 - 674)

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

chloride intracellular channel protein 6

chloride channel form A

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 103

DFNB103

Autosomal Recessive Nonsyndromic Deafness 103

Autosomal Recessive Deafness 103

Deafness, Autosomal Recessive, 103

Deafness, Autosomal Recessive, Type 103

Retinitis Pigmentosa 20

RP20

Retinitis Pigmentosa, Type 20

Retinitis Pigmentosa 25

RP25

Retinitis Pigmentosa-25

Retinitis Pigmentosa, Type 25

Deafness, Autosomal Recessive 102

DFNB102

Autosomal Recessive Nonsyndromic Deafness 102

Autosomal Recessive Deafness 102

Deafness, Autosomal Recessive, 102

Deafness, Autosomal Recessive, Type 102

Ischemic Neuropathy

Ischemic Peripheral Neuropathy

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
Canis familiaris CLIC6 VGNC VGNC:53024
Felis catus CLIC6 VGNC VGNC:102674
Mus musculus CLIC6 MGD MGI:2146607
Rattus norvegicus CLIC6 RGD RGD:727938
Macaca mulatta CLIC6 VGNC VGNC:71256