|
Gene id |
1627 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
DBN1 Gene UCSC Ensembl |
|
Aliases |
D0S117E |
|
Gene name |
drebrin 1 |
|
Alternate names |
drebrin, developmentally-regulated brain protein, drebrin A, drebrin E, drebrin E2, |
|
Gene location |
5q35.3 (177480367: 177456591) Exons: 19 NC_000019.10
|
|
Gene summary(Entrez) |
The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of
|
|
OMIM |
126660 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Involvement in germ cell transport | MIK: 28865027 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Involvement in germ cell transport | MIK: 28865027 |
| Male infertility | MIK: 28865027 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28865027 |
Involvemen
t in germ
cell trans
port, Male
infertili
ty
|
|
|
|
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 |
|