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KCNQ4 |
Gene Facts External Data Attribution
- HGNC Symbol
- KCNQ4 (HGNC:6298) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- potassium voltage-gated channel subfamily Q member 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNA2
- Alias symbols
- Kv7.4
- %HI
- 23.29(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.02(Read more about gnomAD pLI score)
- LOEUF
- 0.6(Read more about gnomAD LOEUF score)
- Cytoband
- 1p34.2
- Genomic Coordinates
-
GRCh37/hg19: chr1:41249459-41306124 NCBI Ensembl UCSC GRCh38/hg38: chr1:40783787-40840452 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004700.4 ENST00000347132.10 (Read more about MANE Select)
- Function
- Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-16401
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)
