ENSG00000177301
Homo sapiens | |
Features
| Gene ID: | ENSG00000177301 | | | | | Biological name : | KCNA2 | | | | | Synonyms : | KCNA2 / P16389 / potassium voltage-gated channel subfamily A member 2 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | p13.3 | | Gene start: | 110519837 | | Gene end: | 110631474 | | | | | Corresponding Affymetrix probe sets: | 208564_at (Human Genome U133 Plus 2.0 Array) 239118_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000491354
Ensembl peptide - ENSP00000491613
Ensembl peptide - ENSP00000492716
Ensembl peptide - ENSP00000492008
Ensembl peptide - ENSP00000491977
Ensembl peptide - ENSP00000491647
Ensembl peptide - ENSP00000491627
Ensembl peptide - ENSP00000314520
Ensembl peptide - ENSP00000358785
Ensembl peptide - ENSP00000433109
Ensembl peptide - ENSP00000487785
NCBI entrez gene - 3737
See in Manteia.
OMIM - 176262
RefSeq - XM_011541397
RefSeq - XM_011541396
RefSeq - XM_011541400
RefSeq - XM_011541399
RefSeq - XM_011541398
RefSeq - NM_001204269
RefSeq - NM_004974
RefSeq - XM_017001213
RefSeq Peptide - NP_004965
RefSeq Peptide - NP_001191198
swissprot - P16389
swissprot - A0A1W2PRY2
swissprot - A0A1W2PP65
swissprot - A0A1W2PPM7
swissprot - A0A1W2PPN8
swissprot - A0A1W2PR01
Ensembl - ENSG00000177301
| | | | | Related genetic diseases (OMIM): | 616366 - Epileptic encephalopathy, early infantile, 32, 616366 |
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)
| KCNA1 / Q09470 / potassium voltage-gated channel subfamily A member 1 | ENSG00000111262 | 78 | | KCNA3 / P22001 / potassium voltage-gated channel subfamily A member 3 | ENSG00000177272 | 78 | | KCNA4 / P22459 / potassium voltage-gated channel subfamily A member 4 | ENSG00000182255 | 70 | | KCNA5 / P22460 / potassium voltage-gated channel subfamily A member 5 | ENSG00000130037 | 69 | | KCNA6 / P17658 / potassium voltage-gated channel subfamily A member 6 | ENSG00000151079 | 67 | | KCNA10 / Q16322 / potassium voltage-gated channel subfamily A member 10 | ENSG00000143105 | 59 | | KCNA7 / Q96RP8 / potassium voltage-gated channel subfamily A member 7 | ENSG00000104848 | 58 | | KCNC4 / Q03721 / potassium voltage-gated channel subfamily C member 4 | ENSG00000116396 | 37 | | KCNC3 / Q14003 / potassium voltage-gated channel subfamily C member 3 | ENSG00000131398 | 37 | | KCNC2 / Q96PR1 / potassium voltage-gated channel subfamily C member 2 | ENSG00000166006 | 37 | | KCND1 / Q9NSA2 / potassium voltage-gated channel subfamily D member 1 | ENSG00000102057 | 35 | | KCNC1 / P48547 / potassium voltage-gated channel subfamily C member 1 | ENSG00000129159 | 35 | | KCND2 / Q9NZV8 / potassium voltage-gated channel subfamily D member 2 | ENSG00000184408 | 35 | | KCND3 / Q9UK17 / potassium voltage-gated channel subfamily D member 3 | ENSG00000171385 | 34 |
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:0001249 | Mental retardation | |
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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: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:0003593 | Early onset | |
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| | HP:0200134 | Epileptic encephalopathy | |
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Interacting proteins (from Reactome)
No match
0 s.
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