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 |
|---|---|---|---|---|---|
| SH3 and multiple ankyrin repeat domains 2 | MIM:603290 | Ensembl:ENSG00000162105 | HGNC:HGNC:14295 | PA37867 | 11q13.3-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 |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0008328 | ionotropic glutamate receptor complex |
| CC | ISS | GO:0008328 | ionotropic glutamate receptor complex |
| CC | IBA | GO:0014069 | postsynaptic density |
| CC | ISS | GO:0014069 | postsynaptic density |
| CC | ISS | GO:0016324 | apical plasma membrane |
| CC | IEA | GO:0030054 | cell junction |
| CC | IBA | GO:0030425 | dendrite |
| CC | ISS | GO:0030426 | growth cone |
| CC | ISS | GO:0031526 | brush border membrane |
| CC | IBA | GO:0043005 | neuron projection |
| CC | ISS | GO:0043005 | neuron projection |
| CC | ISS | GO:0043025 | neuronal cell body |
| CC | IBA | GO:0043197 | dendritic spine |
| CC | ISS | GO:0043197 | dendritic spine |
| CC | IBA | GO:0044309 | neuron spine |
| CC | IBA | GO:0045211 | postsynaptic membrane |
| CC | ISS | GO:0045211 | postsynaptic membrane |
| CC | ISS | GO:0060170 | ciliary membrane |
| BP | IBA | GO:0007416 | synapse assembly |
| BP | ISS | GO:0007416 | synapse assembly |
| BP | IMP | GO:0007612 | learning |
| BP | IMP | GO:0030534 | adult behavior |
| BP | IMP | GO:0035176 | social behavior |
| BP | IBA | GO:0048854 | brain morphogenesis |
| BP | IBA | GO:0051124 | synaptic growth at neuromuscular junction |
| BP | IBA | GO:0051705 | multi-organism behavior |
| BP | IBA | GO:0051968 | positive regulation of synaptic transmission, glutamatergic |
| BP | IBA | GO:0060291 | long-term synaptic potentiation |
| BP | ISS | GO:0060291 | long-term synaptic potentiation |
| BP | ISS | GO:0060292 | long term synaptic depression |
| BP | IBA | GO:0060997 | dendritic spine morphogenesis |
| BP | IBA | GO:0060999 | positive regulation of dendritic spine development |
| BP | IMP | GO:0071625 | vocalization behavior |
| BP | IBA | GO:0097107 | postsynaptic density assembly |
| BP | IBA | GO:2000311 | regulation of AMPA receptor activity |
| BP | IBA | GO:2000463 | positive regulation of excitatory postsynaptic potential |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0017124 | SH3 domain binding |
| MF | IBA | GO:0030159 | receptor signaling complex scaffold activity |
| MF | IBA | GO:0030160 | GKAP/Homer scaffold activity |
| MF | NAS | GO:0030160 | GKAP/Homer scaffold activity |
| MF | IBA | GO:0035255 | ionotropic glutamate receptor binding |
| MF | ISS | GO:0035255 | ionotropic glutamate receptor binding |
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 |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SHANK2
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