|
Gene id |
6047 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
RNF4 Gene UCSC Ensembl |
|
Aliases |
RES4-26, SLX5, SNURF |
|
Gene name |
ring finger protein 4 |
|
Alternate names |
E3 ubiquitin-protein ligase RNF4, E3 ubiquitin ligase RNF4, RING-type E3 ubiquitin transferase RNF4, small nuclear RING finger protein, |
|
Gene location |
4p16.3 (2469105: 2515858) Exons: 10 NC_000003.12
|
|
Gene summary(Entrez) |
The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription
|
|
OMIM |
602850 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Associated with spermatogenesis | MIK: 12874792 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Spermatogenic defects | MIK: 12874792 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 12874792 |
Associated
with sper
matogenesi
s
|
|
|
|
Male infertility |
|
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 |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|