SHOC2 wt Allele

Preferred Label : SHOC2 wt Allele;

NCIt synonyms : Soc-2 Suppressor of Clear Homolog (C. elegans) Gene; SHOC2 Leucine-Rich Repeat Scaffold Protein Gene; SHOC2 Leucine Rich Repeat Scaffold Protein wt Allele; RAS-Binding Protein SUR8, C. elegans, Homolog of Gene; KIAA0862; Soc-2 Suppressor of Clear Homolog Gene; Soc-2 (Suppressor of Clear, C. elegans) Homolog Gene; SUR8; NSLH1; Soc-2 (Suppressor of Clear, C.elegans) Homolog Gene; SHOC2, Leucine Rich Repeat Scaffold Protein Gene; Suppressor of Clear,C. elegans, Homolog of Gene; SOC2;

NCIt definition : Human SHOC2 wild-type allele is located in the vicinity of 10q25.2 and is approximately 94 kb in length. This allele, which encodes leucine-rich repeat protein SHOC-2, plays a role in protein-protein interactions that mediate phosphatase activity and Ras-dependent signaling. Mutation of the gene is associated with Noonan-like syndrome with loose anagen hair 1.;

NCI Metathesaurus CUI : CL1643092;

GenBank Accession Number : AB020669;

Details

Origin ID

C177159;

UMLS CUI

C5443952;

Automatic exact mappings (from CISMeF team)
- Noonan syndrome-like disorder with loose anagen hair 1 [OMIM Phenotype]
- SHOC2 leucine rich repeat scaffold protein [ORDO Gene]
- Shoc2 leucine-rich repeat scaffold protein [OMIM gene]
OMIM relation
- Shoc2 leucine-rich repeat scaffold protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Protein Dephosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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