Hemoglobin, alpha 2

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This article is about a gene. For the similarly named Hemoglobin tetramer, HbA2, see Hemoglobin A2.
Hemoglobin, alpha 2
PDB 1hbb EBI.jpg
PDB rendering based on 1hbb.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols HBA2 ; HBH
External IDs OMIM141850 MGI96015 HomoloGene469 GeneCards: HBA2 Gene
Orthologs
Species Human Mouse
Entrez 3040 15122
Ensembl ENSG00000188536 ENSMUSG00000069917
UniProt P69905 P01942
RefSeq (mRNA) NM_000517 NM_008218
RefSeq (protein) NP_000508 NP_032244
Location (UCSC) Chr 16:
0.22 – 0.22 Mb
Chr 11:
32.28 – 32.28 Mb
PubMed search [1] [2]

Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin.[1][2]

Function[edit]

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven alpha like globin genes and pseudogenes: 5'- HBZ - HBZP1 - HBM - HBAP1 - HBA2 - HBA1 - HBQ1 -3'. The HBA2 (α2) and HBA11) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two α-chains plus two-β chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Beta thalassemias result from point mutation in a beta gene, with only a one mutation beta thalassemia minor results, and you see increased HbA-2.[3]

References[edit]

  1. ^ Liebhaber SA, Goossens MJ, Kan YW (December 1980). "Cloning and complete nucleotide sequence of human 5'-alpha-globin gene". Proc. Natl. Acad. Sci. U.S.A. 77 (12): 7054–8. doi:10.1073/pnas.77.12.7054. PMC 350439. PMID 6452630. 
  2. ^ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (April 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood 73 (5): 1081–104. PMID 2649166. 
  3. ^ "Entrez Gene: HBA2 hemoglobin, alpha 2". 


Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.