ID HMGA2_HUMAN Reviewed; 109 AA. AC P52926; DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot. DT 01-OCT-1996, sequence version 1. DT 05-FEB-2008, entry version 74. DE High mobility group protein HMGI-C (High mobility group AT-hook DE protein 2). GN Name=HMGA2; Synonyms=HMGIC; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Hepatoma; RX MEDLINE=94257023; PubMed=8198613; DOI=10.1006/bbrc.1994.1669; RA Patel U.A., Bandiera A., Manfioletti G., Giancotti V., Chau K.-Y., RA Crane-Robinson C.; RT "Expression and cDNA cloning of human HMGI-C phosphoprotein."; RL Biochem. Biophys. Res. Commun. 201:63-70(1994). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=96091170; PubMed=7501444; DOI=10.1093/nar/23.21.4262; RA Chau K.-Y., Patel U.A., Lee K.-L.D., Lam H.-Y.P., Crane-Robinson C.; RT "The gene for the human architectural transcription factor HMGI-C RT consists of five exons each coding for a distinct functional RT element."; RL Nucleic Acids Res. 23:4262-4266(1995). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX MEDLINE=95400325; PubMed=7670494; DOI=10.1038/ng0895-436; RA Schoenmakers E.F.P.M., Wanschura S., Mols R., Bullerdiek J., RA van den Berghe H., van de Ven W.J.M.; RT "Recurrent rearrangements in the high mobility group protein gene, RT HMGI-C, in benign mesenchymal tumours."; RL Nat. Genet. 10:436-444(1995). RN [4] RP NUCLEOTIDE SEQUENCE [MRNA]. RX MEDLINE=96422186; PubMed=8824803; DOI=10.1006/geno.1996.0033; RA Ashar H.R., Cherath L., Przysybz K., Chada K.; RT "Genomic characterization of human HMGIC, a member of the accessory RT transcription factor family found at translocation breakpoints in RT lipomas."; RL Genomics 31:207-214(1996). RN [5] RP CHROMOSOMAL TRANSLOCATION WITH LPP. RX MEDLINE=98446081; PubMed=9772904; DOI=10.1016/S0165-4608(98)00038-7; RA Petit M.M., Swarts S., Bridge J.A., Van de Ven W.J.M.; RT "Expression of reciprocal fusion transcripts of the HMGIC and LPP RT genes in parosteal lipoma."; RL Cancer Genet. Cytogenet. 106:18-23(1998). RN [6] RP CHROMOSOMAL TRANSLOCATION WITH RAD51L1. RX MEDLINE=99107195; PubMed=9892177; RA Schoenmakers E.F.P.M., Huysmans C., Van de Ven W.J.M.; RT "Allelic knockout of novel splice variants of human recombination RT repair gene RAD51B in t(12;14) uterine leiomyomas."; RL Cancer Res. 59:19-23(1999). RN [7] RP CHROMOSOMAL TRANSLOCATION WITH LPP. RX PubMed=11066083; RX DOI=10.1002/1098-2264(2000)9999:9999<1::AID-GCC1043>3.3.CO;2-E; RA Rogalla P., Lemke I., Kazmierczak B., Bullerdiek J.; RT "An identical HMGIC-LPP fusion transcript is consistently expressed in RT pulmonary chondroid hamartomas with t(3;12)(q27-28;q14-15)."; RL Genes Chromosomes Cancer 29:363-366(2000). RN [8] RP CHROMOSOMAL TRANSLOCATION WITH RAD51L1. RX MEDLINE=22535398; PubMed=12649198; RA Quade B.J., Weremowicz S., Neskey D.M., Vanni R., Ladd C., Dal Cin P., RA Morton C.C.; RT "Fusion transcripts involving HMGA2 are not a common molecular RT mechanism in uterine leiomyomata with rearrangements in 12q15."; RL Cancer Res. 63:1351-1358(2003). RN [9] RP INVOLVEMENT IN STQTL9. RX PubMed=17767157; DOI=10.1038/ng2121; RG The Diabetes Genetics Initiative; RG The Wellcome Trust Case Control Consortium; RA Weedon M.N., Lettre G., Freathy R.M., Lindgren C.M., Voight B.F., RA Perry J.R.B., Elliott K.S., Hackett R., Guiducci C., Shields B., RA Zeggini E., Lango H., Lyssenko V., Timpson N.J., Burtt N.P., RA Rayner N.W., Saxena R., Ardlie K., Tobias J.H., Ness A.R., Ring S.M., RA Palmer C.N.A., Morris A.D., Peltonen L., Salomaa V., Smith G.D., RA Groop L.C., Hattersley A.T., McCarthy M.I., Hirschhorn J.N., RA Frayling T.M.; RT "A common variant of HMGA2 is associated with adult and childhood RT height in the general population."; RL Nat. Genet. 39:1245-1250(2007). CC -!- FUNCTION: Involved in transcription regulation. CC -!- INTERACTION: CC Q96LA8:PRMT6; NbExp=1; IntAct=EBI-912511, EBI-912440; CC -!- SUBCELLULAR LOCATION: Nucleus. CC -!- DEVELOPMENTAL STAGE: Expressed predominantly during embryogenesis. CC -!- PTM: Regulated by cell cycle-dependent phosphorylation which CC alters its DNA binding affinity. CC -!- POLYMORPHISM: Genetic variation in HMGA2 has been associated with CC stature as a quantitative trait (STQTL9) [MIM:611547]. Human CC height is a classic, highly heritable quantitative trait. CC -!- DISEASE: A chromosomal aberration involving HMGA2 is associated CC with a subclass of benign mesenchymal tumors known as lipomas. CC Translocation t(3;12)(q27-q28;q13-q15) with LPP is shown in CC lipomas. HMGA2 is also fused with a number of other genes in CC lipomas. CC -!- DISEASE: A chromosomal aberration involving HMGA2 is associated CC with pulmonary chondroid hamartomas. Translocation t(3;12)(q27- CC q28;q14-q15) with LPP is detected in pulmonary chondroid CC hamartomas. CC -!- DISEASE: A chromosomal aberration involving HMGA2 is associated CC with parosteal lipomas. Translocation t(3;12)(q28;q14) with LPP is CC also shown in one parosteal lipoma. CC -!- DISEASE: A chromosomal aberration involving HMGA2 is found in CC uterine leiomyoma (UL) [MIM:150699]. Translocation CC t(12;14)(q15;q23-24) with RAD51L1. Chromosomal rearrangements CC involving HMGA2 do not seem to be the principle pathobiological CC mechanism in uterine leiomyoma. CC -!- SIMILARITY: Belongs to the HMGA family. CC -!- SIMILARITY: Contains 3 A.T hook DNA-binding domains. CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology CC and Haematology; CC URL="http://atlasgeneticsoncology.org/Genes/HMGICID82.html"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; L46353; AAA96484.1; -; Genomic_DNA. DR EMBL; L41044; AAA96484.1; JOINED; Genomic_DNA. DR EMBL; L44578; AAA96484.1; JOINED; Genomic_DNA. DR EMBL; Z31595; CAA83472.1; -; mRNA. DR EMBL; U28749; AAA68613.1; -; mRNA. DR EMBL; U28754; AAA68614.1; -; Genomic_DNA. DR EMBL; U28750; AAA68614.1; JOINED; Genomic_DNA. DR EMBL; U28751; AAA68614.1; JOINED; Genomic_DNA. DR EMBL; U28752; AAA68614.1; JOINED; Genomic_DNA. DR EMBL; U28753; AAA68614.1; JOINED; Genomic_DNA. DR EMBL; X92518; CAA63295.1; -; mRNA. DR PIR; JC2232; JC2232. DR RefSeq; NP_003474.1; -. DR UniGene; Hs.505924; -. DR IntAct; P52926; -. DR TRANSFAC; T01859; -. DR Ensembl; ENSG00000149948; Homo sapiens. DR GeneID; 8091; -. DR KEGG; hsa:8091; -. DR H-InvDB; HIX0036730; -. DR HGNC; HGNC:5009; HMGA2. DR MIM; 150699; phenotype. DR MIM; 600698; gene. DR MIM; 611547; phenotype. DR PharmGKB; PA35093; -. DR CleanEx; HS_HMGA2; -. DR GO; GO:0003680; F:AT DNA binding; TAS:ProtInc. DR GO; GO:0005515; F:protein binding; IPI:IntAct. DR GO; GO:0006325; P:establishment and/or maintenance of chromat...; TAS:ProtInc. DR GO; GO:0007275; P:multicellular organismal development; TAS:ProtInc. DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; TAS:ProtInc. DR InterPro; IPR000637; AT_hook_DNA_bd. DR InterPro; IPR000116; Highmoblty_IY. DR Pfam; PF02178; AT_hook; 3. DR PRINTS; PR00929; ATHOOK. DR PRINTS; PR00930; HIGHMOBLTYIY. DR ProDom; PD005593; Highmoblty_IY; 1. DR SMART; SM00384; AT_hook; 3. DR PROSITE; PS00354; HMGI_Y; 2. PE 1: Evidence at protein level; KW Chromosomal protein; Chromosomal rearrangement; DNA-binding; Nucleus; KW Phosphoprotein; Proto-oncogene; Repeat; Transcription; KW Transcription regulation. FT CHAIN 1 109 High mobility group protein HMGI-C. FT /FTId=PRO_0000206711. FT DNA_BIND 24 34 A.T hook 1. FT DNA_BIND 44 54 A.T hook 2. FT DNA_BIND 71 82 A.T hook 3. FT MOD_RES 105 105 Phosphoserine (By similarity). SQ SEQUENCE 109 AA; 11832 MW; F36BABE623DA4615 CRC64; MSARGEGAGQ PSTSAQGQPA APAPQKRGRG RPRKQQQEPT GEPSPKRPRG RPKGSKNKSP SKAAQKKAEA TGEKRPRGRP RKWPQQVVQK KPAQEETEET SSQESAEED //