Version 5.4
| Homo sapiens Gene: SHANK2 | |||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||||||||||||||||||||||||||
| InnateDB Gene | IDBG-62434.6 | ||||||||||||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||
| Gene Symbol | SHANK2 | ||||||||||||||||||||||||||||||||
| Gene Name | SH3 and multiple ankyrin repeat domains 2 | ||||||||||||||||||||||||||||||||
| Synonyms | AUTS17; CORTBP1; CTTNBP1; ProSAP1; SHANK; SPANK-3 | ||||||||||||||||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||||||||||||||||
| Ensembl Gene | ENSG00000162105 | ||||||||||||||||||||||||||||||||
| Encoded Proteins |
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
SH3 and multiple ankyrin repeat domains 2
|
||||||||||||||||||||||||||||||||
| Protein Structure | |||||||||||||||||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||||||||||||
| Summary |
This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density (PSD). Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, an SH3 domain, a PSD-95/Dlg/ZO-1 domain, a sterile alpha motif domain, and a proline-rich region. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the PSDs of adult and developing brain. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] |
||||||||||||||||||||||||||||||||
| Gene Information | |||||||||||||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||||||||||||
| Genomic Location | Chromosome 11:70467856-71252577 | ||||||||||||||||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||||||||||||||||
| Band | q13.4 | ||||||||||||||||||||||||||||||||
| Transcripts | |||||||||||||||||||||||||||||||||
| Interactions | |||||||||||||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
|
||||||||||||||||||||||||||||||||
| Gene Ontology | |||||||||||||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||||||||||||
| Biological Process |
|
||||||||||||||||||||||||||||||||
| Cellular Component |
|
||||||||||||||||||||||||||||||||
| Orthologs | |||||||||||||||||||||||||||||||||
|
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||||||||||||||||
| Cross-References | |||||||||||||||||||||||||||||||||
| SwissProt | |||||||||||||||||||||||||||||||||
| TrEMBL | |||||||||||||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||||||||||||
| UniGene | Hs.619318 | ||||||||||||||||||||||||||||||||
| RefSeq | NM_012309 NM_133266 XM_005277930 XM_005277932 XM_006718477 | ||||||||||||||||||||||||||||||||
| HUGO | |||||||||||||||||||||||||||||||||
| OMIM | |||||||||||||||||||||||||||||||||
| CCDS | |||||||||||||||||||||||||||||||||
| HPRD | 04479 | ||||||||||||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||||||||||||
| EMBL | |||||||||||||||||||||||||||||||||
| GenPept | |||||||||||||||||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||||||||||||||||