CABIN1 wt Allele

Preferred Label : CABIN1 wt Allele;

NCIt synonyms : KIAA0330; CAIN; KB-318B8.7; Calcineurin Binding Protein 1 wt Allele; PPP3IN;

NCIt definition : Human CABIN1 wild-type allele is located in the vicinity of 22q11.23 and is approximately 167 kb in length. This allele, which encodes calcineurin-binding protein cabin-1, may play a role in the negative regulation of calcineurin-mediated signaling.;

NCI Metathesaurus CUI : CL504986;

GenBank Accession Number : AF072441;

Details

Origin ID

C126454;

UMLS CUI

C4283876;

Automatic exact mappings (from CISMeF team)
- CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome [ORDO Disease]
- Calcineurin-binding protein 1 [OMIM gene]
- nucleoporin 214 [ORDO Gene]
OMIM relation
- Calcineurin-binding protein 1 [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_is_element_in_pathway
- Skeletal Myogenesis Pathway [NCIt concept]
- T-Cell Apoptosis Pathway [NCIt concept]
gene_plays_role_in_process
- Chromatin Structural Process [NCIt concept]
- Enzyme Inhibition [NCIt concept]
- Ligand Binding [NCIt concept]
- Signal Transduction Inhibition [NCIt concept]

Keyword's position in hierarchy(ies) :

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