ENSG00000114859
Homo sapiens | |
Features
| Gene ID: | ENSG00000114859 | | | | | Biological name : | CLCN2 | | | | | Synonyms : | chloride voltage-gated channel 2 / CLCN2 / P51788 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | -1 | | Band: | q27.1 | | Gene start: | 184346185 | | Gene end: | 184361651 | | | | | Corresponding Affymetrix probe sets: | 213499_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000400425
Ensembl peptide - ENSP00000490875
Ensembl peptide - ENSP00000490764
Ensembl peptide - ENSP00000490682
Ensembl peptide - ENSP00000490659
Ensembl peptide - ENSP00000490570
Ensembl peptide - ENSP00000490374
Ensembl peptide - ENSP00000490313
Ensembl peptide - ENSP00000490299
Ensembl peptide - ENSP00000489885
Ensembl peptide - ENSP00000489724
Ensembl peptide - ENSP00000265593
Ensembl peptide - ENSP00000345056
Ensembl peptide - ENSP00000391928
Ensembl peptide - ENSP00000396231
NCBI entrez gene - 1181
See in Manteia.
OMIM - 600570
RefSeq - XM_011512401
RefSeq - NM_001171087
RefSeq - NM_001171088
RefSeq - NM_001171089
RefSeq - NM_004366
RefSeq - XM_006713489
RefSeq - XM_006713490
RefSeq Peptide - NP_001164558
RefSeq Peptide - NP_001164559
RefSeq Peptide - NP_001164560
RefSeq Peptide - NP_004357
swissprot - A0A1B0GWC8
swissprot - A0A1B0GVU4
swissprot - A0A1B0GVL9
swissprot - A0A1B0GV52
swissprot - A0A1B0GUZ8
swissprot - A0A1B0GUY6
swissprot - A0A1B0GTJ3
swissprot - A0A1B0GTY0
swissprot - A0A1B0GVW7
swissprot - H7C0Q8
swissprot - P51788
Ensembl - ENSG00000114859
| | | | | Related genetic diseases (OMIM): | 607628 - {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 | | | 615651 - Leukoencephalopathy with ataxia, 615651 |
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)
Gene Ontology (GO)
Pathways (from Reactome)
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:0000532 | Chorioretinal abnormality | |
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| | HP:0001123 | Visual field defects | |
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| | HP:0001138 | Optic neuropathy | |
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| | HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| | HP:0002070 | Limb ataxia | |
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| | HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| | HP:0002352 | Leukoencephalopathy | |
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Interacting proteins (from Reactome)
No match
0 s.
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