C147941Level 5
SHANK2 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human SHANK2 wild-type allele is located within 11q13.3-q13.4 and is approximately 785 kb in length. This allele, which encodes SH3 and multiple ankyrin repeat domains protein 2, plays a role in postsynaptic signal transduction. Deletions and nonsense mutation of the gene may be associated with autism.
**Synonyms:** - AUTS17 - CORTBP1 - CTTNBP1 - KIAA1022 - PROSAP1 - ProSAP1 - SH3 and Multiple Ankyrin Repeat Domains 2 wt Allele - SHANK - SPANK-3
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Cross-system equivalences0
No cross-system equivalences mapped for this node.