Hemojuvelin - CISMeF

Preferred Label : Hemojuvelin;

NCIt synonyms : Hemochromatosis Type 2 Protein; RGM Domain Family Member C; Repulsive Guidance Molecule C; Hemojuvelin BMP Coreceptor; HJV; HFE2;

NCIt definition : Hemojuvelin (426 aa, 45 kDa) is encoded by the human HJV gene. This protein plays a role in both iron metabolism and bone morphogenetic protein signaling pathways.;

Details

Origin ID

C113604;

UMLS CUI

C1434369;

Automatic exact mappings (from CISMeF team)
- Hemochromatosis, type 2a [OMIM Phenotype]
- Hemojuvelin bmp coreceptor [OMIM gene]
- hemochromatosis type 2 [DO Concept]
- hemojuvelin BMP co-receptor [ORDO Gene]
- hemojuvelin BMP co-receptor [HGNC gene]
OMIM relation
- Hemojuvelin bmp coreceptor [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- HJV protein, human [MeSH concept]
- HJV protein, human [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- HJV protein, human [MeSH Supplementary Concept]
- HJV protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- HJV Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Outer Leaflet of the Lipid Bilayer [NCIt concept]
- Plasma Membrane [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Homeostatic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
is_target
- Anti-HJV Monoclonal Antibody DISC-0974 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients