|
Gene id |
25970 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SH2B1 Gene UCSC Ensembl |
|
Aliases |
PSM, SH2B |
|
Gene name |
SH2B adaptor protein 1 |
|
Alternate names |
SH2B adapter protein 1, SH2 domain-containing protein 1B, SH2 domain-containing putative adapter SH2-B, SH2-B signaling protein, pro-rich, PH and SH2 domain-containing signaling mediator, |
|
Gene location |
16p11.2 (28846599: 28874212) Exons: 14 NC_000016.10
|
|
Gene summary(Entrez) |
This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced trans
|
|
OMIM |
608937 |
|
| Pathway id | Pathway name |
|---|
| hsa04722 | Neurotrophin signaling pathway | |
|
| Associated diseases |
References |
| Cryptorchidism | MIK: 28606200 |
| Male Infertility | MIK: 11940664 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 11940664 |
Impaired f
ertility i
n male and
female
|
|
|
|
Male infertility |
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|