|
Gene id |
3784 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
KCNQ1 Gene UCSC Ensembl |
|
Aliases |
ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS |
|
Gene name |
potassium voltage-gated channel subfamily Q member 1 |
|
Alternate names |
potassium voltage-gated channel subfamily KQT member 1, IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1, kidney and cardiac voltage dependend K+ channel, potassium channel, voltage gated KQT-like subfamily Q, member 1, potassium voltag, |
|
Gene location |
11p15.5-p15.4 (2444990: 2849109) Exons: 17 NC_000019.10
|
|
Gene summary(Entrez) |
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated
|
|
OMIM |
607542 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
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|
|
|
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| Associated diseases |
References |
| Cardiac arrhythmias | GAD: 18426444 |
| Atrial fibrillation | GAD: H00731 |
| Jervell and Lange-Nielsen syndrome | GAD: 10077519 |
| Long QT syndrome | GAD: 14998624 |
| Jervell and Lange-Nielsen syndrome | KEGG: H02091 |
| Diabetes | GAD: 18711366 |
| Diabetes | KEGG: H00409 |
| Sertoli cell only syndrome (SCOS) | MIK: 30478911 |
| Male factor infertility | MIK: 30478911 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Male infertility | MIK: 26361204 |
| Embryo quality | MIK: 26361204 |
| Sertoli cell-only syndrome | MIK: 30478911 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 30478911 |
Sertoli ce
ll-only sy
ndrome, Ma
le inferti
lity
|
|
|
39 Sertoli cell
-only syndrome
infertile patie
nts
|
Male infertility |
HOXD9
SYCE1
COL1A1
H19 and KCNQ1
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
| 26361204 |
Male infer
tility, Em
bryo quali
ty
|
|
|
181 (127 men un
dergoing IVF tr
eatment, 54 nor
mozoospermic, f
ertile men)
|
Male infertility |
Microarray
|
Show abstract |
|