Hemoglobin Subunit Beta

Preferred Label : Hemoglobin Subunit Beta;

NCIt synonyms : Beta-Globin; Hemoglobin Beta Chain; HBB; Beta Globin Chain;

NCIt definition : Hemoglobin subunit beta (147 aa, 16 kDa) is encoded by the human HBB gene. This protein plays a role in the transport of oxygen to tissues of the adult body.;

NCIt note : Cleaved into LVV-homorphin-7.;

Details

Origin ID

C84983;

UMLS CUI

C0544483;

Currated CISMeF NLP mapping
- beta-Globins [MeSH Descriptor]
- beta-Globins [MeSH concept]
False automatic mappings
- beta(A-T87Q) globin [MeSH concept]
- beta(A-T87Q) globin [MeSH Supplementary Concept]
OMIM relation
- Hemoglobin--beta locus [OMIM Phenotype]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- HBB Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
- Erythrocyte [NCIt concept]
gene_product_has_gene_product_variant
- HBB NP_000509.1:p.E122K [NCIt concept]
- HBB NP_000509.1:p.E122Q [NCIt concept]
- HBB NP_000509.1:p.E27K [NCIt concept]
- HBB NP_000509.1:p.E7K [NCIt concept]
- HBB NP_000509.1:p.E7V [NCIt concept]
- HBB Protein Variant [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
gene_product_is_physical_part_of
- Hemoglobin A1 [NCIt concept]
- Hemoglobin H [NCIt concept]
gene_product_malfunction_associated_with_disease
- Beta Thalassemia [NCIt concept]
gene_product_plays_role_in_biological_process
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]
is_target
- DLK1/EPHA2/HBB/NRP1/RGS5/TEM1 Peptide-pulsed Alpha-type-1 Polarized Dendritic Cell Vaccine [NCIt concept]

Keyword's position in hierarchy(ies) :

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