JAGN1 wt Allele

Preferred Label : JAGN1 wt Allele;

NCIt synonyms : FLJ14602; GL009; SCN6; Jagunal, Drosophila, Homolog of, 1 Gene; Jagunal Homolog 1 (Drosophila) Gene; Jagunal Homolog 1 wt Allele;

NCIt definition : Human JAGN1 wild-type allele is located in the vicinity of 3p25.3 and is approximately 4 kb in length. This allele, which encodes protein jagunal homolog 1 protein, plays a role in neutrophil-mediated immunity and vesicle transport. Mutation of the gene is associated with autosomal recessive severe congenital neutropenia 6 (SCN6).;

NCI Metathesaurus CUI : CL1642375;

GenBank Accession Number : AK074760;

Details

Origin ID

C176529;

UMLS CUI

C5444201;

Automatic exact mappings (from CISMeF team)
- Neutropenia, severe congenital, 6, autosomal recessive [OMIM Phenotype]
- jagunal homolog 1 [ORDO Gene]
- severe congenital neutropenia 6 [DO Concept]
OMIM relation
- Jagunal homolog 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p25.3 [NCIt concept]
gene_plays_role_in_process
- Exocytosis [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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