ENSG00000129159
Homo sapiens | |
Features
| Gene ID: | ENSG00000129159 | | | | | Biological name : | KCNC1 | | | | | Synonyms : | KCNC1 / P48547 / potassium voltage-gated channel subfamily C member 1 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 11 | | Strand: | 1 | | Band: | p15.1 | | Gene start: | 17734774 | | Gene end: | 17856804 | | | | | Corresponding Affymetrix probe sets: | 208477_at (Human Genome U133 Plus 2.0 Array) 230547_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000265969
Ensembl peptide - ENSP00000368785
Ensembl peptide - ENSP00000492663
Ensembl peptide - ENSP00000491700
Ensembl peptide - ENSP00000491644
Ensembl peptide - ENSP00000491345
Ensembl peptide - ENSP00000491247
Ensembl peptide - ENSP00000491189
Ensembl peptide - ENSP00000491016
NCBI entrez gene - 3746
See in Manteia.
OMIM - 176258
RefSeq - NM_004976
RefSeq - NM_001112741
RefSeq - XM_011520080
RefSeq Peptide - NP_001106212
RefSeq Peptide - NP_004967
swissprot - A0A1W2PNZ3
swissprot - A0A1W2PRL7
swissprot - P48547
swissprot - A0A1W2PNN0
swissprot - A0A1W2PPX0
swissprot - A0A1W2PPT0
swissprot - A0A1W2PPN9
swissprot - A0A1W2PP60
Ensembl - ENSG00000129159
| | | | | Related genetic diseases (OMIM): | 616187 - Epilepsy, progressive myoclonic 7, 616187 |
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)
| KCNC3 / Q14003 / potassium voltage-gated channel subfamily C member 3 | ENSG00000131398 | 73 | | KCNC4 / Q03721 / potassium voltage-gated channel subfamily C member 4 | ENSG00000116396 | 71 | | KCNC2 / Q96PR1 / potassium voltage-gated channel subfamily C member 2 | ENSG00000166006 | 70 | | KCNA4 / P22459 / potassium voltage-gated channel subfamily A member 4 | ENSG00000182255 | 31 | | KCNA7 / Q96RP8 / potassium voltage-gated channel subfamily A member 7 | ENSG00000104848 | 30 | | KCNA1 / Q09470 / potassium voltage-gated channel subfamily A member 1 | ENSG00000111262 | 30 | | KCNA5 / P22460 / potassium voltage-gated channel subfamily A member 5 | ENSG00000130037 | 30 | | KCNA3 / P22001 / potassium voltage-gated channel subfamily A member 3 | ENSG00000177272 | 30 | | KCNA2 / P16389 / potassium voltage-gated channel subfamily A member 2 | ENSG00000177301 | 30 | | KCNA6 / P17658 / potassium voltage-gated channel subfamily A member 6 | ENSG00000151079 | 29 | | KCND3 / Q9UK17 / potassium voltage-gated channel subfamily D member 3 | ENSG00000171385 | 29 | | KCND2 / Q9NZV8 / potassium voltage-gated channel subfamily D member 2 | ENSG00000184408 | 29 | | KCND1 / Q9NSA2 / potassium voltage-gated channel subfamily D member 1 | ENSG00000102057 | 28 | | KCNA10 / Q16322 / potassium voltage-gated channel subfamily A member 10 | ENSG00000143105 | 28 |
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| | HP:0001268 | Mental deterioration | |
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| | HP:0001272 | Cerebellar atrophy | |
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| | HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| | HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| | HP:0003676 | Progressive disorder | |
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Interacting proteins (from Reactome)
No match
0 s.
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