HBA2 wt Allele

Preferred Label : HBA2 wt Allele;

NCIt synonyms : HBA-T2; HBH; 5-Prime Alpha-Globin Gene; 5' Alpha-Globin Gene; Major Alpha-Globin Locus Gene; Hemoglobin--Alpha Locus 2 Gene; Alpha-2 Globin Gene; Alpha-Globin Locus, Second Gene; Hemoglobin-Alpha Locus 2 Gene; Hemoglobin, Alpha 2 Gene; Hemoglobin Subunit Alpha 2 wt Allele; ECYT7;

NCIt definition : Human HBA2 wild-type allele is located in the vicinity of 16p13.3 and is approximately 1 kb in length. This allele, which encodes hemoglobin subunit alpha protein, is involved in the mediation of oxygen transport in the vasculature. Mutation or deletion of the gene is associated with alpha-thalassemia.;

NCIt note : The sequence of the coding region of the human HBA1 gene is identical to that of the human HBA2 gene. (Entrez Gene);

GenBank Accession Number : BC008572;

Details

Origin ID

C75433;

UMLS CUI

C2697530;

Automatic exact mappings (from CISMeF team)
- Erythrocytosis, familial, 7 [OMIM Phenotype]
- Hemoglobin h disease [OMIM Phenotype]
- Hemoglobin--alpha locus 2 [OMIM gene]
- familial erythrocytosis 7 [DO Concept]
- hemoglobin H disease [DO Concept]
- hemoglobin subunit alpha 2 [ORDO Gene]
OMIM relation
- Hemoglobin--alpha locus 2 [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_associated_with_disease
- Alpha Thalassemia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p13.3 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Respiratory Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients