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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
SH3 and multiple ankyrin repeat domains 2MIM:603290Ensembl:ENSG00000162105HGNC:HGNC:14295PA3786711q13.3-q13.4

GO terms in SHANK2


Term TypeEvidence TypeGO Term IDGO Des.
CCISSGO:0001750photoreceptor outer segment
CCISSGO:0001917photoreceptor inner segment
CCNDGO:0005575cellular_component
CCTASGO:0005829cytosol
CCISSGO:0005883neurofilament
CCIBAGO:0005886plasma membrane
CCIBAGO:0005886plasma membrane
CCISSGO:0005886plasma membrane
CCIBAGO:0008328ionotropic glutamate receptor complex
CCISSGO:0008328ionotropic glutamate receptor complex
CCIBAGO:0014069postsynaptic density
CCISSGO:0014069postsynaptic density
CCISSGO:0016324apical plasma membrane
CCIEAGO:0030054cell junction
CCIBAGO:0030425dendrite
CCISSGO:0030426growth cone
CCISSGO:0031526brush border membrane
CCIBAGO:0043005neuron projection
CCISSGO:0043005neuron projection
CCISSGO:0043025neuronal cell body
CCIBAGO:0043197dendritic spine
CCISSGO:0043197dendritic spine
CCIBAGO:0044309neuron spine
CCIBAGO:0045211postsynaptic membrane
CCISSGO:0045211postsynaptic membrane
CCISSGO:0060170ciliary membrane
BPIBAGO:0007416synapse assembly
BPISSGO:0007416synapse assembly
BPIMPGO:0007612learning
BPIMPGO:0030534adult behavior
BPIMPGO:0035176social behavior
BPIBAGO:0048854brain morphogenesis
BPIBAGO:0051124synaptic growth at neuromuscular junction
BPIBAGO:0051705multi-organism behavior
BPIBAGO:0051968positive regulation of synaptic transmission, glutamatergic
BPIBAGO:0060291long-term synaptic potentiation
BPISSGO:0060291long-term synaptic potentiation
BPISSGO:0060292long term synaptic depression
BPIBAGO:0060997dendritic spine morphogenesis
BPIBAGO:0060999positive regulation of dendritic spine development
BPIMPGO:0071625vocalization behavior
BPIBAGO:0097107postsynaptic density assembly
BPIBAGO:2000311regulation of AMPA receptor activity
BPIBAGO:2000463positive regulation of excitatory postsynaptic potential
MFIPIGO:0005515protein binding
MFIEAGO:0017124SH3 domain binding
MFIBAGO:0030159receptor signaling complex scaffold activity
MFIBAGO:0030160GKAP/Homer scaffold activity
MFNASGO:0030160GKAP/Homer scaffold activity
MFIBAGO:0035255ionotropic glutamate receptor binding
MFISSGO:0035255ionotropic glutamate receptor binding

Gene expression in normal tissue: SHANK2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SHANK2


DatabasePathway IDPathway Des.
kegghsa04724Glutamatergic synapse - Homo sapiens (human)
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-6794361Neurexins and neuroligins
reactomeR-HSA-6794361Neurexins and neuroligins
reactomeR-HSA-6794362Protein-protein interactions at synapses
reactomeR-HSA-6794362Protein-protein interactions at synapses

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD131Erlotinib1
iGMDRD133Lapatinib1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SHANK2

​​​​