|
Gene id |
54440 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SASH3 Gene UCSC Ensembl |
|
Aliases |
753P9, CXorf9, HACS2, SH3D6C, SLY |
|
Gene name |
SAM and SH3 domain containing 3 |
|
Alternate names |
SAM and SH3 domain-containing protein 3, SH3 protein expressed in lymphocytes homolog, |
|
Gene location |
Xq26.1 (129779948: 129795200) Exons: 7 NC_000023.11
|
|
Gene summary(Entrez) |
The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by R
|
|
OMIM |
300441 |
|
| Associated diseases |
References |
| Heart disease | GAD: 17903304 |
| Associated with spermiogenesis | MIK: 19176879 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Spermatogenetic defects | MIK: 19176879 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19176879 |
Associated
with sper
miogenesis
|
|
|
|
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 |
|