HBD (gene)

Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene.^[3]

HBD
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1SHR, 1SI4
Identifiers
Aliases	HBD, hemoglobin subunit delta
External IDs	OMIM: 142000; HomoloGene: 128037; GeneCards: HBD; OMA:HBD - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p15.4 Start 5,232,678 bp[1] End 5,243,657 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trabecular bone bone marrow bone marrow cell monocyte blood vena cava endothelial cell periodontal fiber spleen decidua n/a More reference expression data BioGPS n/a
Gene ontology Molecular function iron ion binding oxygen binding protein binding heme binding metal ion binding oxygen carrier activity peroxidase activity haptoglobin binding hemoglobin alpha binding organic acid binding Cellular component hemoglobin complex cytosol blood microparticle haptoglobin-hemoglobin complex Biological process oxygen transport blood coagulation transport hydrogen peroxide catabolic process protein heterooligomerization cellular oxidant detoxification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3045 n/a Ensembl ENSG00000223609 n/a UniProt P02042 n/a RefSeq (mRNA) NM_000519 n/a RefSeq (protein) NP_000510 n/a Location (UCSC) Chr 11: 5.23 – 5.24 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Function

The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon – gamma-G – gamma-A – delta – beta - 3'.^[4]

Clinical significance

Mutations in the delta-globin gene are associated with Delta-thalassemia.^[4]

See also

• Hemoglobin
• Human β-globin locus
• Thalassemia