|
Gene id |
85358 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SHANK3 Gene UCSC Ensembl |
|
Aliases |
DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2 |
|
Gene name |
SH3 and multiple ankyrin repeat domains 3 |
|
Alternate names |
SH3 and multiple ankyrin repeat domains protein 3, proline rich synapse associated protein 2, shank postsynaptic density protein, |
|
Gene location |
22q13.33 (50674390: 50733211) Exons: 22 NC_000022.11
|
|
Gene summary(Entrez) |
This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled
|
|
OMIM |
606230 |
|
| Pathway id | Pathway name |
|---|
| hsa04724 | Glutamatergic synapse | |
|
| Associated diseases |
References |
| Phelan-McDermid syndrome | KEGG:H01238 |
| Phelan-McDermid syndrome | KEGG:H01238 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|