SHANK2
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 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:603290 Ensembl IDEnsembl:ENSG00000162105 HGNC IDHGNC:HGNC:14295 PHARMGKB IDPA37867 Map Location11q13.3-q13.4 | |||||
GO terms in SHANK2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ISS | GO:0001750 | photoreceptor outer segment |
| CC | ISS | GO:0001917 | photoreceptor inner segment |
| CC | ND | GO:0005575 | cellular_component |
| CC | TAS | GO:0005829 | cytosol |
| CC | ISS | GO:0005883 | neurofilament |
| CC | IBA | GO:0005886 | plasma membrane |
Gene expression in normal tissue: SHANK2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SHANK2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04724 | Glutamatergic synapse - Homo sapiens (human) |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SHANK2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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