ENSG00000117013
Homo sapiens | |
Features
| Gene ID: | ENSG00000117013 | | | | | Biological name : | KCNQ4 | | | | | Synonyms : | KCNQ4 / P56696 / potassium voltage-gated channel subfamily Q member 4 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | 1 | | Band: | p34.2 | | Gene start: | 40783814 | | Gene end: | 40840452 | | | | | Corresponding Affymetrix probe sets: | 221083_at (Human Genome U133 Plus 2.0 Array) 243209_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000262916
Ensembl peptide - ENSP00000406735
Ensembl peptide - ENSP00000423756
Ensembl peptide - ENSP00000494128
NCBI entrez gene - 9132
See in Manteia.
OMIM - 603537
RefSeq - XM_017002792
RefSeq - NM_004700
RefSeq - NM_172163
RefSeq Peptide - NP_004691
RefSeq Peptide - NP_751895
swissprot - P56696
swissprot - H0Y6N7
Ensembl - ENSG00000117013
| | | | | Related genetic diseases (OMIM): | 600101 - Deafness, autosomal dominant 2A, 600101 |
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)
| KCNQ5 / Q9NR82 / potassium voltage-gated channel subfamily Q member 5 | ENSG00000185760 | 58 | | KCNQ2 / O43526 / potassium voltage-gated channel subfamily Q member 2 | ENSG00000075043 | 52 | | KCNQ3 / O43525 / potassium voltage-gated channel subfamily Q member 3 | ENSG00000184156 | 44 | | KCNQ1 / P51787 / potassium voltage-gated channel subfamily Q member 1 | ENSG00000053918 | 34 |
Protein motifs (from Interpro)
| IPR003937 | Potassium channel, voltage dependent, KCNQ | | IPR005821 | Ion transport domain | | IPR013821 | Potassium channel, voltage dependent, KCNQ, C-terminal | | IPR015573 | Potassium channel, voltage dependent, KCNQ4 | | IPR028325 | Voltage-gated potassium channel |
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:0000360 | Tinnitus | "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] |
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| | HP:0000365 | Hearing loss | |
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| | HP:0003676 | Progressive disorder | |
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Interacting proteins (from Reactome)
No match
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