GeneID: 346


Common Name: HMGA2 Type: Gene
Chromosome: 12 (NC_000012.12) Locus: NG_016296.1 (HMGA2)
HUGO Symbol: HMGA2 Full Name: high mobility group AT-hook 2
Exons: 5 Introns: 4

High Mobility Group (HMG) AT-hook 2 (HMGA2) is a member of the HMGA non-histone chromosomal protein family. HMG proteins function as architectural proteins with critical roles in chromatin organization and diverse cellular processes including cell cycle progression, proliferation, differentiation and senescence. They are characterized by the presence of 3 copies of a conserved DNA-binding peptide motif (AT-hook) that preferentially binds with the minor groove of many AT-rich promoter and enhancer DNA regulatory elements. HMGA2 is a downstream target of the let-7 family of miRNAs, which functions as a key regulator of stage-specific transcriptional networks during erythroid development. The let-7 pathway has been reported to be involved in the modulation of fetal haemoglobin (HbF) levels. HMGA2 mRNA is negatively-regulated by the binding of let-7 miRNAs to the 3’-UTR region. HMGA2 is implicated in fetal γ-globin gene expression in human adult erythroblasts.



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Publications / Origin

  1. Cavazzana-Calvo M, Payen E, Negre O, Wang G, Hehir K, Fusil F, Down J, Denaro M, Brady T, Westerman K, Cavallesco R, Gillet-Legrand B, Caccavelli L, Sgarra R, Maouche-Chrétien L, Bernaudin F, Girot R, Dorazio R, Mulder GJ, Polack A, Bank A, Soulier J, Larghero J, Kabbara N, Dalle B, Gourmel B, Socie G, Chrétien S, Cartier N, Aubourg P, Fischer A, Cornetta K, Galacteros F, Beuzard Y, Gluckman E, Bushman F, Hacein-Bey-Abina S, Leboulch P, Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia., Nature, 467(7313), 318-22, 2010 PubMed
  2. Lee YT, de Vasconcellos JF, Yuan J, Byrnes C, Noh SJ, Meier ER, Kim KS, Rabel A, Kaushal M, Muljo SA, Miller JL, LIN28B-mediated expression of fetal hemoglobin and production of fetal-like erythrocytes from adult human erythroblasts ex vivo., Blood, 122(6), 1034-41, 2013 PubMed
  3. de Vasconcellos JF, Lee YT, Byrnes C, Tumburu L, Rabel A, Miller JL, HMGA2 Moderately Increases Fetal Hemoglobin Expression in Human Adult Erythroblasts., PLoS ONE, 11(11), e0166928, 2016 PubMed
Created on 2020-01-09 11:08:09, Last reviewed on (Show full history)

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