HMGA2

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High mobility group AT-hook 2
Identifiers
Symbol(s) HMGA2; BABL; HMGI-C; HMGIC; LIPO
External IDs OMIM: 600698 MGI: 101761 HomoloGene: 2602
Orthologs
Human Mouse
Entrez 8091 15364
Ensembl ENSG00000149948 ENSMUSG00000056758
Uniprot n/a Q6NSP9
Refseq NM_003483 (mRNA)
NP_003474 (protein)		 NM_010441 (mRNA)
NP_034571 (protein)
Location Chr 12: 64.5 - 64.6 Mb Chr 10: 119.87 - 119.88 Mb
Pubmed search [1] [2]

High mobility group AT-hook 2, also known as HMGA2, is a human gene.[1]

This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: HMGA2 high mobility group AT-hook 2.

[edit] Further reading

  • Pedeutour F, Ligon AH, Morton CC (1999). "[Genetics of uterine leiomyomata]". Bulletin du cancer 86 (11): 920–8. PMID 10586108. 
  • Reeves R, Beckerbauer L (2001). "HMGI/Y proteins: flexible regulators of transcription and chromatin structure.". Biochim. Biophys. Acta 1519 (1-2): 13–29. PMID 11406267. 
  • Manfioletti G, Giancotti V, Bandiera A, et al. (1992). "cDNA cloning of the HMGI-C phosphoprotein, a nuclear protein associated with neoplastic and undifferentiated phenotypes.". Nucleic Acids Res. 19 (24): 6793–7. PMID 1762909. 
  • Chau KY, Patel UA, Lee KL, et al. (1996). "The gene for the human architectural transcription factor HMGI-C consists of five exons each coding for a distinct functional element.". Nucleic Acids Res. 23 (21): 4262–6. PMID 7501444. 
  • Schoenmakers EF, Mols R, Wanschura S, et al. (1995). "Identification, molecular cloning, and characterization of the chromosome 12 breakpoint cluster region of uterine leiomyomas.". Genes Chromosomes Cancer 11 (2): 106–18. PMID 7529547. 
  • Ashar HR, Fejzo MS, Tkachenko A, et al. (1995). "Disruption of the architectural factor HMGI-C: DNA-binding AT hook motifs fused in lipomas to distinct transcriptional regulatory domains.". Cell 82 (1): 57–65. PMID 7606786. 
  • Schoenmakers EF, Wanschura S, Mols R, et al. (1995). "Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours.". Nat. Genet. 10 (4): 436–44. doi:10.1038/ng0895-436. PMID 7670494. 
  • Patel UA, Bandiera A, Manfioletti G, et al. (1994). "Expression and cDNA cloning of human HMGI-C phosphoprotein.". Biochem. Biophys. Res. Commun. 201 (1): 63–70. PMID 8198613. 
  • Ashar HR, Cherath L, Przybysz KM, Chada K (1997). "Genomic characterization of human HMGIC, a member of the accessory transcription factor family found at translocation breakpoints in lipomas.". Genomics 31 (2): 207–14. doi:10.1006/geno.1996.0033. PMID 8824803. 
  • Ishwad CS, Shriver MD, Lassige DM, Ferrell RE (1997). "The high mobility group I-C gene (HMGI-C): polymorphism and genetic localization.". Hum. Genet. 99 (1): 103–5. PMID 9003504. 
  • Petit MM, Swarts S, Bridge JA, Van de Ven WJ (1998). "Expression of reciprocal fusion transcripts of the HMGIC and LPP genes in parosteal lipoma.". Cancer Genet. Cytogenet. 106 (1): 18–23. PMID 9772904. 
  • Schoenmakers EF, Huysmans C, Van de Ven WJ (1999). "Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12;14) uterine leiomyomas.". Cancer Res. 59 (1): 19–23. PMID 9892177. 
  • Gattas GJ, Quade BJ, Nowak RA, Morton CC (1999). "HMGIC expression in human adult and fetal tissues and in uterine leiomyomata.". Genes Chromosomes Cancer 25 (4): 316–22. PMID 10398424. 
  • Schwanbeck R, Manfioletti G, Wiśniewski JR (2000). "Architecture of high mobility group protein I-C.DNA complex and its perturbation upon phosphorylation by Cdc2 kinase.". J. Biol. Chem. 275 (3): 1793–801. PMID 10636877. 
  • Piekielko A, Drung A, Rogalla P, et al. (2001). "Distinct organization of DNA complexes of various HMGI/Y family proteins and their modulation upon mitotic phosphorylation.". J. Biol. Chem. 276 (3): 1984–92. doi:10.1074/jbc.M004065200. PMID 11034995. 
  • Rogalla P, Lemke I, Kazmierczak B, Bullerdiek J (2001). "An identical HMGIC-LPP fusion transcript is consistently expressed in pulmonary chondroid hamartomas with t(3;12)(q27-28;q14-15).". Genes Chromosomes Cancer 29 (4): 363–6. PMID 11066083. 
  • Zentner MD, Lin HH, Deng HT, et al. (2001). "Requirement for high mobility group protein HMGI-C interaction with STAT3 inhibitor PIAS3 in repression of alpha-subunit of epithelial Na+ channel (alpha-ENaC) transcription by Ras activation in salivary epithelial cells.". J. Biol. Chem. 276 (32): 29805–14. doi:10.1074/jbc.M103153200. PMID 11390395. 
  • Röijer E, Nordkvist A, Ström AK, et al. (2002). "Translocation, deletion/amplification, and expression of HMGIC and MDM2 in a carcinoma ex pleomorphic adenoma.". Am. J. Pathol. 160 (2): 433–40. PMID 11839563. 

[edit] External links


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v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD