1. Gene
  2. CLIC5 - chloride intracellular channel 5 Gene

CLIC5 - chloride intracellular channel 5 Gene

中文名称:氯离子胞内通道 5

种属: Homo sapiens

同用名: MST130; DFNB102; DFNB103; MSTP130

基因 ID: 53405 | 基因类型: protein coding

关于 CLIC5

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:45,880,827-46,129,819 (from NCBI)

This gene has 14 transcripts (splice variants), 242 orthologues, 14 paralogues and is associated with 2 phenotypes. Biased expression in lung (RPKM 21.7), heart (RPKM 20.0) and 10 other tissues.

功能概要

该基因编码氯离子通道的氯离子细胞内通道 (CLIC) 家族的成员。编码的蛋白质与基于肌动蛋白的细胞骨架结构相关,并可能在多个过程中发挥作用,包括毛细胞静纤毛形成、成肌细胞增殖和肾小球足细胞和内皮细胞维持。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 12 月]

This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

CLIC5 基因产物(5)

mRNA Protein Name
NM_001114086.2 NP_001107558.1 chloride intracellular channel protein 5 isoform a
NM_001256023.2 NP_001242952.1 chloride intracellular channel protein 5 isoform c
NM_001370649.1 NP_001357578.1 chloride intracellular channel protein 5 isoform d
NM_001370650.1 NP_001357579.1 chloride intracellular channel protein 5 isoform a
NM_016929.5 NP_058625.2 chloride intracellular channel protein 5 isoform b

CLIC5 蛋白结构

GST_N_3

GST_N_3: Glutathione S-transferase, N-terminal domain (191 - 254)

  • 0
  • 100
  • 200
  • 300
  • 410 a.a.
蛋白主名 其他名称

chloride intracellular channel protein 5

重组 CLIC5 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70113 CLIC5 Protein, Human (His) Q9NZA1-2 (M1-S251) ≥95%

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

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive
Retinitis Pigmentosa 20

RP20

Retinitis Pigmentosa, Type 20

Ischemic Neuropathy

Ischemic Peripheral Neuropathy

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

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
Felis catus CLIC5 VGNC VGNC:102402
Canis familiaris CLIC5 VGNC VGNC:39341
Macaca mulatta CLIC5 VGNC VGNC:71171
Rattus norvegicus CLIC5 RGD RGD:620659
Mus musculus CLIC5 MGD MGI:1917912
Bos taurus CLIC5 VGNC VGNC:107286
Others CLIC5 NCBI