SHANK3, Official Symbol SHANK3provided by HGNC Official Full Name SH3 and multiple ankyrin repeat domains 3provided by HGNC Primary source HGNC:HGNC:14294 See related Ensembl:ENSG00000251322 MIM:606230; AllianceGenome:HGNC:14294 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PSAP2; SCZD15; PROSAP2; SPANK-2; DEL22q13.3 Summary 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 also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012] Annotation information Annotation category: suggests misassembly Annotation category: partial on reference assembly Expression Broad expression in spleen (RPKM 33.0), fat (RPKM 32.0) and 15 other tissues See more Orthologs mouse all