|
Gene id |
10984 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
KCNQ1OT1 Gene UCSC Ensembl |
|
Aliases |
KCNQ1-AS2, KCNQ10T1, Kncq1, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012 |
|
Gene name |
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) |
|
Alternate names |
KCNQ1 antisense RNA 2 (non-protein coding), KCNQ1 overlapping transcript 1 (non-protein coding), long QT intronic transcript 1, |
|
Gene location |
11p15.5 (2699997: 2608327) Exons: 1 NC_000011.10
|
|
Gene summary(Entrez) |
Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting con
|
|
OMIM |
604115 |
|
| Associated diseases |
References |
| Beckwith-Wiedemann syndrome | KEGG: H00713 |
| Male factor infertility | MIK: 19880108 |
| Oligozoospermia | MIK: 19880108 |
| Male factor infertility | MIK: 19880108 |
| Oligozoospermic | MIK: 19880108 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19880108 |
Male facto
r infertil
ity
|
|
|
25 (10 oligozoo
spermic, 10 abn
ormal protamine
replacement pa
tients, 5 known
fertile donors
)
|
Male infertility |
LIT1
MEST
SNRPN
PLAGL1
PEG3
H19
and IGF2
|
Show abstract |
| 19880108 |
Oligozoosp
ermic
|
|
|
|
Male infertility |
LIT1
MEST
SNRPN
PLAGL1
PEG3
H19
and IGF2
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|