ENSG00000112782
Homo sapiens | |
Features
| Gene ID: | ENSG00000112782 | | | | | Biological name : | CLIC5 | | | | | Synonyms : | chloride intracellular channel 5 / CLIC5 / Q9NZA1 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | -1 | | Band: | p21.1 | | Gene start: | 45880827 | | Gene end: | 46080348 | | | | | Corresponding Affymetrix probe sets: | 213317_at (Human Genome U133 Plus 2.0 Array) 217628_at (Human Genome U133 Plus 2.0 Array) 219866_at (Human Genome U133 Plus 2.0 Array) 234329_at (Human Genome U133 Plus 2.0 Array) 243917_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000496359
Ensembl peptide - ENSP00000185206
Ensembl peptide - ENSP00000344165
Ensembl peptide - ENSP00000493894
Ensembl peptide - ENSP00000495186
Ensembl peptide - ENSP00000439195
NCBI entrez gene - 53405
See in Manteia.
OMIM - 607293
RefSeq - XM_017010953
RefSeq - NM_001114086
RefSeq - NM_001256023
RefSeq - NM_016929
RefSeq - XM_011514692
RefSeq - XM_011514694
RefSeq Peptide - NP_001107558
RefSeq Peptide - NP_001242952
RefSeq Peptide - NP_058625
swissprot - Q53G01
swissprot - Q9NZA1
Ensembl - ENSG00000112782
| | | | | Related genetic diseases (OMIM): | 616042 - ?Deafness, autosomal recessive 103, 616042 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR002946 | Intracellular chloride channel | | IPR004045 | Glutathione S-transferase, N-terminal | | IPR010987 | Glutathione S-transferase, C-terminal-like | | IPR030264 | Chloride intracellular channel protein 5 | | IPR036249 | Thioredoxin-like superfamily | | IPR036282 | Glutathione S-transferase, C-terminal domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| | HP:0003593 | Early onset | |
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| | HP:0008568 | Vestibular areflexia | |
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Interacting proteins (from Reactome)
No match
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