SORBS2 wt Allele

Preferred Label : SORBS2 wt Allele;

NCIt synonyms : ARGBP2; PRO0618; Sorbin and SH3 Domain Containing 2 wt Allele; KIAA0777;

NCIt definition : Human SORBS2 wild-type allele is located in the vicinity of 4q35.1 and is approximately 371 kb in length. This allele, which encodes sorbin and SH3 domain-containing protein 2, is involved in the positive regulation of signaling.;

NCIt note : There is a report of a fusion involving the SORBS2 gene and the KMT2A (MLL) gene. This fusion may be associated with hematopoietic neoplasms. (COSMIC);

NCI Metathesaurus CUI : CL505052;

GenBank Accession Number : NM_003603;

Details

Origin ID

C126603;

UMLS CUI

C4284780;

Automatic exact mappings (from CISMeF team)
- Sorbin and sh3 domains-containing protein 2 [OMIM gene]
OMIM relation
- Sorbin and sh3 domains-containing protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4q35.1 [NCIt concept]
gene_plays_role_in_process
- 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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