SHANK2

SHANK2
Identifiers
Aliases	SHANK2, AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3, SH3 and multiple ankyrin repeat domains 2
External IDs	MGI: 2671987 HomoloGene: 105965 GeneCards: SHANK2
Genetically Related Diseases
obesity
Gene ontology Molecular function • SH3 domain binding • protein binding • GKAP/Homer scaffold activity • ionotropic glutamate receptor binding Cellular component • cytoplasm • postsynaptic membrane • cell projection • membrane • postsynaptic density • neurofilament • photoreceptor inner segment • growth cone • plasma membrane • dendritic spine • photoreceptor outer segment • synapse • brush border membrane • cell junction • neuronal cell body • apical plasma membrane • ciliary membrane • neuron projection • ionotropic glutamate receptor complex • cytosol Biological process • learning • vocalization behavior • adult behavior • long term synaptic depression • social behavior • synapse assembly • long-term synaptic potentiation Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	22941	210274
Ensembl	ENSG00000162105	ENSMUSG00000037541
UniProt	Q9UPX8	Q80Z38
RefSeq (mRNA)	NM_012309 NM_133266	NM_001081370 NM_001113373
RefSeq (protein)	NP_036441 NP_573573	NP_001074839.2 NP_001106844.2 NP_001074839 NP_001106844
Location (UCSC)	Chr 11: 70.47 – 71.25 Mb	Chr 7: 144 – 144.42 Mb
PubMed search

22941

210274

ENSG00000162105

ENSMUSG00000037541

Q9UPX8

Q80Z38

NM_012309
NM_133266

NM_001081370
NM_001113373

NP_036441
NP_573573

NP_001074839.2
NP_001106844.2
NP_001074839
NP_001106844

SH3 and multiple ankyrin repeat domains protein 2 is a protein that in humans is encoded by the SHANK2 gene. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined.

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.

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Wikipedia