SHANK2 wt Allele

Preferred Label : SHANK2 wt Allele;

NCIt synonyms : CORTBP1; CTTNBP1; AUTS17; PROSAP1; KIAA1022; SH3 and Multiple Ankyrin Repeat Domains 2 wt Allele; SPANK-3; SHANK;

NCIt 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.;

NCI Metathesaurus CUI : CL545774;

GenBank Accession Number : AF141901;

Details

Origin ID

C147941;

UMLS CUI

C4553230;

Automatic exact mappings (from CISMeF team)
- Autism, susceptibility to, 17 [OMIM Phenotype]
- Sh3 and multiple ankyrin repeat domains 2 [OMIM gene]
- Shank (body structure) [SNOMED CT concept]
- hindlimb zeugopod [UBERON concept]
OMIM relation
- Sh3 and multiple ankyrin repeat domains 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Learning [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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