Basic Information

Symbol
SHANK2
RNA class
mRNA
Alias
SH3 And Multiple Ankyrin Repeat Domains 2 CTTNBP1 ProSAP1 SPANK-3 CORTBP1 SHANK SH3 And Multiple Ankyrin Repeat Domains Protein 2 Cortactin-Binding Protein 1 Proline-Rich Synapse Associated Protein 1 Proline-Rich Synapse-Associated Protein 1 Cortactin SH3 Domain-Binding Protein GKAP/SAPAP Interacting Protein Cortactin Binding Protein 1 KIAA1022 PROSAP1 CortBP1 AUTS17 Shank2
Location (GRCh38)
11:70467805-71252844
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Drug abuse diagnoses
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_012309.5
Sequence length
10830.0 nt
GC content
0.5207

Transcripts

ID Sequence Length GC content
NM_001379226.1 NCBI
ACUCAUGCCUCCCGGCGUCUCCCAGCUGCCAGCUCGAGGACGCCUGAUC… 9819 nt 0.5147
NM_012309.5 NCBI
CUUCCCCACCCCCUGCACCUGAGCCGCGGCGGCGGCUCCUGAGCUCCGG… 10830 nt 0.5207
NM_133266.5 NCBI
GCUCCUCCUGCACCCUCGCUGCCUCCUUUCCUCCAUGCUGCCUGGAUCU… 8875 nt 0.4999
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]

Forensic Context

A study in mice selectively bred for high or low methamphetamine intake identified the SHANK2 as a differentially wired gene in the prefrontal cortex, where it was enriched in synapse part annotations [Hitzemann et al. DOI:10.3390/brainsci9070155].