CLIC5 - chloride intracellular channel 5 Gene
Also Known as MST130; DFNB102; DFNB103; MSTP130
Species: Homo sapiens
About CLIC5
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: 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. | Nom du produit | Accession | Pureté |
|---|---|---|---|
| HY-P70113 | CLIC5 Protein, Human (His) | Q9NZA1-2 (M1-S251) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 103 |
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
|
| Deafness, Autosomal Recessive |
|
|
| Retinitis Pigmentosa 20 |
|
|
| Ischemic Neuropathy |
|
|
| Retinitis Pigmentosa 25 |
|
|
| Deafness, Autosomal Recessive 102 |
|
|
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 |