InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SHANK2

Summary

InnateDB Protein

IDBP-380035.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SHANK2

Protein Name

SH3 and multiple ankyrin repeat domains 2

Synonyms

AUTS17; CORTBP1; CTTNBP1; ProSAP1; SHANK; SPANK-3;

Species

Homo sapiens

Ensembl Protein

ENSP00000394536

InnateDB Gene

IDBG-62434 (SHANK2)

Protein Structure

UniProt Annotation

Function

Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction.

Subcellular Localization

Apical cell membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Note=Colocalizes with cortactin in growth cones in differentiating hippocampal neurons. Colocalized with PDE4D to the apical membrane of colonic crypt cells (By similarity). {ECO:0000250}.

Disease Associations

Autism 17 (AUTS17) [MIM:613436]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. {ECO:0000269PubMed:20473310}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Isoform 3 is present in epithelial colonic cells (at protein level). {ECO:0000269PubMed:16293618, ECO:0000269PubMed:17244609}.

Comments

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.

Experimentally validated
Total	20 [view]
Protein-Protein	20 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0017124	SH3 domain binding
GO:0030160	GKAP/Homer scaffold activity
GO:0035255	ionotropic glutamate receptor binding

Biological Process

GO:0007416	synapse assembly
GO:0007612	learning
GO:0030534	adult behavior
GO:0035176	social behavior
GO:0060291	long-term synaptic potentiation
GO:0060292	long term synaptic depression
GO:0071625	vocalization behavior

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0001917	photoreceptor inner segment
GO:0005575	cellular_component
GO:0005883	neurofilament
GO:0005886	plasma membrane
GO:0008328	ionotropic glutamate receptor complex
GO:0014069	postsynaptic density
GO:0016324	apical plasma membrane
GO:0030054	cell junction
GO:0030426	growth cone
GO:0031526	brush border membrane
GO:0043005	neuron projection
GO:0043025	neuronal cell body
GO:0043197	dendritic spine
GO:0045211	postsynaptic membrane
GO:0060170	ciliary membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001452 SH3 domain
IPR001478 PDZ domain
IPR001660 Sterile alpha motif domain
IPR011510 Sterile alpha motif, type 2
IPR011511 Variant SH3 domain
IPR013761 Sterile alpha motif/pointed domain
IPR021129 Sterile alpha motif, type 1

PFAM