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

CLIC5 - chloride intracellular channel 5 Gene

Homo sapiens

Also known as MST130; DFNB102; DFNB103; MSTP130

Gene ID: 53405 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

GST_N_3

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

  • 0
  • 100
  • 200
  • 300
  • 410 a.a.
Protein Preferred Names Protein Names

chloride intracellular channel protein 5

Recombinant CLIC5 Proteins

Cat. No. Product Name Accession Purity
HY-P70113 CLIC5 Protein, Human (His) Q9NZA1-2 (P173-S410) ≥95%

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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