HJV wt Allele - CISMeF

Preferred Label : HJV wt Allele;

NCIt synonyms : HFE2A; JH; RGMC; Hemochromatosis Type 2 (Juvenile) Gene; Hemojuvelin BMP Co-Receptor wt Allele; HFE2;

NCIt related terms : HFE2 wt Allele;

NCIt definition : Human HJV wild-type allele is located in the vicinity of 1q21.1 and is approximately 19 kb in length. This allele, which encodes hemojuvelin protein, is involved in both bone morphogenetic protein signaling and iron metabolism. Mutation of the gene is associated with hemochromatosis type 2A.;

GenBank Accession Number : AY372521;

Details

Origin ID

C113603;

UMLS CUI

C3811152;

Automatic exact mappings (from CISMeF team)
- Hemochromatosis, type 2a [OMIM Phenotype]
- Hemojuvelin bmp coreceptor [OMIM gene]
- hemochromatosis type 2 [DO Concept]
- hemochromatosis type 2A [DO Concept]
- hemojuvelin BMP co-receptor [ORDO Gene]
OMIM relation
- Hemojuvelin bmp coreceptor [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
- Homeostatic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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