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 14-NOV-2006, entry version 57. 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; 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; 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. 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). CC -!- FUNCTION: Involved in transcription regulation. 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 -!- 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. Translocation t(12;14)(q15;q23-24) with CC RAD51L1. Chromosomal rearrangements involving HMGA2 do not seem to CC be the principle pathobiological 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 UniGene; Hs.505924; -. DR TRANSFAC; T01859; -. DR KEGG; hsa:8091; -. DR HGNC; HGNC:5009; HMGA2. DR MIM; 600698; gene. DR ArrayExpress; P52926; -. DR GO; GO:0003680; F:AT DNA binding; TAS:ProtInc. DR GO; GO:0007275; P:development; TAS:ProtInc. DR GO; GO:0006325; P:establishment and/or maintenance of chromat...; 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. KW Chromosomal protein; Chromosomal rearrangement; DNA-binding; KW Nuclear protein; Phosphorylation; Proto-oncogene; Repeat; KW Transcription; 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. SQ SEQUENCE 109 AA; 11832 MW; F36BABE623DA4615 CRC64; MSARGEGAGQ PSTSAQGQPA APAPQKRGRG RPRKQQQEPT GEPSPKRPRG RPKGSKNKSP SKAAQKKAEA TGEKRPRGRP RKWPQQVVQK KPAQEETEET SSQESAEED //