Symbol: Name: ID: |
SHANK3 SH3 and multiple ankyrin repeat domains 3 GFS:3656 |
Gene name: | SHANK3 |
Chromosome: | 22q13.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | SPANK-2, prosap2, KIAA1650, PSAP2 |
Name Aliases: | proline rich synapse associated protein 2, |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1930016 | Rat Genome Database ID: | RGD:69264 |
HGNC ID: | HGNC:14294 | RefSeq IDs: | NM_001080420 |
Entrez Gene ID: | 85358 | Ensembl Gene ID: | ENSG00000251322 |
VEGA IDs: | UniProt ID: | Q9BYB0 | |
UCSC ID: | uc003bne.1 | OMIM ID: | 606230 |
Pubmed: | PMID11258795 PMID 11431708 PMID 10806096 PMID 17173049 | ||
CCDS IDs: | CCDSCCDS46737.1 |
SH3 and multiple ankyrin repeat domains 3, also known as SHANK3, is a human gene on chromosome 22.
This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD) which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene are a major causitive factor in the neurological symptoms of 22q13.3 deletion syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Oct 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for SHANK3 gene
Catalog | Product Name | Application | Company |
GFS:E03656 | SH3 and multiple ankyrin repeat domains 3; ELISA kit | ELISA | n/a |
GFS:A03656 | SH3 and multiple ankyrin repeat domains 3; Anti | ANTIBODIES | n/a |
GFS:P03656 | SH3 and multiple ankyrin repeat domains 3; Protien | Protien | n/a |