|
Gene id |
2649 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
NR6A1 Gene UCSC Ensembl |
|
Aliases |
CT150, GCNF, GCNF1, NR61, RTR, hGCNF, hRTR |
|
Gene name |
nuclear receptor subfamily 6 group A member 1 |
|
Alternate names |
nuclear receptor subfamily 6 group A member 1, germ cell nuclear factor variant 1, retinoic acid receptor-related testis-associated receptor, retinoid receptor-related testis-specific receptor, |
|
Gene location |
9q33.3 (124771310: 124517274) Exons: 11 NC_000006.12
|
|
Gene summary(Entrez) |
This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in viv
|
|
OMIM |
602778 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Cleft defects | GAD: 20583170 |
| May play a role in transcriptional regulation during meiosis and the early haploid phase of spermatogenesis | MIK: 12606326 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| May play a role in transcriptional regulation during meiosis and the early haploid phase of spermatogenesis | MIK: 12606326 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 12606326 |
May play a
role in t
ranscripti
onal regul
ation duri
ng meiosis
and the e
arly haplo
id phase o
f spermato
genesis
|
|
|
|
Male infertility |
|
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 |
|