ACTN4 wt Allele

Preferred Label : ACTN4 wt Allele;

NCIt synonyms : Actinin Alpha 4 wt Allele; Actinin, Alpha 4 Gene; Focal Segmental Glomerulosclerosis 1 Gene; FSGS1; FSGS; Actinin, Alpha-4 Gene; ACTININ-4;

NCIt definition : Human ACTN4 wild-type allele is located in the vicinity of 19q13 and is approximately 84 kb in length. This allele, which encodes alpha-actinin-4 protein, is involved in crosslinking actin to other cellular proteins. Mutations in this gene are associated with focal segmental glomerulosclerosis.;

NCIt note : There is a report of a fusion involving the ACTN4 gene and the KMT2A (MLL) gene. This fusion may be associated with hematopoietic neoplasms. (COSMIC);

NCI Metathesaurus CUI : CL505068;

GenBank Accession Number : D89980;

Details

Origin ID

C126633;

UMLS CUI

C4285064;

Automatic exact mappings (from CISMeF team)
- Actinin, alpha-4 [OMIM gene]
- Focal segmental glomerulosclerosis 1 [OMIM Phenotype]
- focal segmental glomerulosclerosis [DO Concept]
- focal segmental glomerulosclerosis 1 [DO Concept]
- segmental glomerulosclerosis [MeSH Supplementary Concept]
OMIM relation
- Actinin, alpha-4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Adherens Junction Assembly Pathway [NCIt concept]
- Amoebiasis Pathway [NCIt concept]
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
- Tight Junction Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Intracellular Transport [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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