| Type | Description |
|---|---|
| Definition | potassium voltage-gated channel subfamily Q member 4 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:28:00 | Structural Basis for the Modulation of Human KCNQ4 by Small-Molecule Drugs. | 33238160 |
| 2020-09-26 13:07:00 | A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations. | 32382995 |
| 2020-07-25 11:07:00 | In 3 families with hearing impairment, whole exome sequencing revealed 3 novel variants in KCNQ4, LHFPL5 and COCH genes. The KCNQ4 gene (DFNA2A) encodes a potassium channel (KV7.4) and the heterozygous variant identified (c.1647C>G, p.F549L) resulted in the substitution of Phe549 residing in the KV7.4 cytoplasmic region. | 31126177 |
| 2020-07-11 12:35:00 | The mutant allele A of rs4660470 in KCNQ4 may be a risk factor for developing noise-induced hearing loss | 32306673 |
| 2020-05-30 11:11:00 | KCNQ4 variants may contribute more to late-onset Non-Syndromic Hearing Loss (NSHL) than expected, and therefore, genetic screening for this gene is important for the prevention and treatment of NSHL. | 31434872 |
| Type | IDs |
|---|---|
| Synonymous | DFNA2, DFNA2A, KV7.4 |
| Gene |
UniProtKB-ID:
KCNQ4_HUMAN,
B3KQH8_HUMAN
UniprotKB:
P56696,
B3KQH8
UniParc:
UPI000013D35B,
UPI000016015D,
UPI000015D969
EMBL:
AF105213,
AF105208,
AF105211,
AF105203,
AF105206,
AF105209,
AF105212,
AF105214,
AF105207,
AF105215,
AF105205,
AF105202,
AF105216,
AC119677,
AK074957,
AF105210,
AF105204
Ensembl:
ENSG00000117013
KO:
hsa:9132
|
| Nucleutide sequences |
EMBL-CDS:
AAD14680.1,
AAD14681.1,
BAG52040.1
Ensembl_TRS:
ENST00000347132,
ENST00000509682
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000262916,
ENSP00000423756
RefSeq:
NP_751895.1,
NP_004691.2,
XP_016858281.1
|
| Others |
UniRef100:
UniRef100_P56696,
UniRef100_B3KQH8
UniRef90:
UniRef90_P56696,
UniRef90_B3KQH8
UniRef50:
UniRef50_P56696,
UniRef50_A0A2G9SFX1
UniGene:
Hs.473058
CCDS:
CCDS456.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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