HMGA2
| High mobility group AT-hook 2 | |||||||||||
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| Identifiers | |||||||||||
| Symbols | HMGA2 ; BABL; HMGI-C; HMGIC; LIPO | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 2602 | ||||||||||
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| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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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]
See also
References
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.
External links
- HMGA2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.