SHANK2 SH3 and multiple ankyrin repeat domains 2
Gene ID: 22941, updated on 2-Nov-2024Gene type: protein coding
Also known as: SHANK; AUTS17; CORTBP1; CTTNBP1; ProSAP1; SPANK-3
- See all available tests in GTR for this gene
- Go to complete Gene record for SHANK2
- Go to Variation Viewer for SHANK2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of recipient genotype and medium-term kidney allograft function. GeneReviews: Not available | |
| Autism spectrum disorder MedGen: C1510586GeneReviews: Not available | See labs |
| Autism, susceptibility to, 17 | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-10-26) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2023-10-26) ClinGen Genome Curation Page |
Genomic context
- Location:
- 11q13.3-q13.4
- Sequence:
- Chromosome: 11; NC_000011.10 (70467854..71253228, complement)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SHANK2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SHANK2 database
- Variation ViewerRelated Variants
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