TFR2 wt Allele

Preferred Label : TFR2 wt Allele;

NCIt synonyms : Transferrin Receptor 2 wt Allele; HFE3; TFRC2;

NCIt definition : Human TFR2 wild-type allele is located within 7q22 and is approximately 21 kb in length. This allele, which encodes transferrin receptor protein 2, plays a role in the mediation of transferrin-bound iron cellular transport. TFR2 defects are associated with hereditary hemochromatosis type III.;

GenBank Accession Number : NM_003227;

Details

Origin ID

C52233;

UMLS CUI

C1705611;

OMIM relation
- Transferrin receptor 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q22 [NCIt concept]
gene_plays_role_in_process
- Erythropoiesis [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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