LOCUS       NM_003483               4117 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens high mobility group AT-hook 2 (HMGA2), transcript
            variant 1, mRNA.
ACCESSION   NM_003483
VERSION     NM_003483.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4117)
  AUTHORS   Alsugair,Z., Lepine,C., Descotes,F., Lanic,M.D., Pissaloux,D.,
            Tirode,F., Lopez,J., Ceruse,P., Philouze,P., Fieux,M., Wassef,M.,
            Baglin,A.C., Mihaela,O., Castain,C., Sudaka,A., Uro-Coste,E.,
            Champagnac,A., Costes-Martineau,V., Lae,M. and Benzerdjeb,N.
  CONSRTM   REFCOR network*
  TITLE     Beneath HMGA2 alterations in pleomorphic adenomas: Pathological,
            immunohistochemical, and molecular insights
  JOURNAL   Hum Pathol 152, 105633 (2024)
   PUBMED   39089476
  REMARK    GeneRIF: Beneath HMGA2 alterations in pleomorphic adenomas:
            Pathological, immunohistochemical, and molecular insights.
REFERENCE   2  (bases 1 to 4117)
  AUTHORS   Yang,Y., Gao,C., Li,Q., Liu,Y. and Cao,J.
  TITLE     HMGA2-mediated glutamine metabolism is required for Cd-induced cell
            growth and cell migration
  JOURNAL   Toxicology 507, 153899 (2024)
   PUBMED   39032683
  REMARK    GeneRIF: HMGA2-mediated glutamine metabolism is required for
            Cd-induced cell growth and cell migration.
REFERENCE   3  (bases 1 to 4117)
  AUTHORS   Alsugair,Z., Fieux,M., Descotes,F., Lopez,J., Cordonnier,C.,
            Russel,J., Champagnac,A., Pissaloux,D., Ceruse,P., Philouze,P. and
            Benzerdjeb,N.
  TITLE     Peculiar nuclear atypia associated with MDM2 gene amplification in
            carcinoma ex-pleomorphic adenoma harbouring an alteration of HMGA2
  JOURNAL   Histopathology 85 (2), 338-346 (2024)
   PUBMED   38708906
  REMARK    GeneRIF: Peculiar nuclear atypia associated with MDM2 gene
            amplification in carcinoma ex-pleomorphic adenoma harbouring an
            alteration of HMGA2.
REFERENCE   4  (bases 1 to 4117)
  AUTHORS   Kubota,S., Sun,Y., Morii,M., Bai,J., Ideue,T., Hirayama,M.,
            Sorin,S., Eerdunduleng, Yokomizo-Nakano,T., Osato,M., Hamashima,A.,
            Iimori,M., Araki,K., Umemoto,T. and Sashida,G.
  TITLE     Chromatin modifier Hmga2 promotes adult hematopoietic stem cell
            function and blood regeneration in stress conditions
  JOURNAL   EMBO J 43 (13), 2661-2684 (2024)
   PUBMED   38811851
  REMARK    GeneRIF: Chromatin modifier Hmga2 promotes adult hematopoietic stem
            cell function and blood regeneration in stress conditions.
REFERENCE   5  (bases 1 to 4117)
  AUTHORS   Najibi,K., Moghanibashi,M. and Naeimi,S.
  TITLE     Association of deletion polymorphism rs10573247 in the HMGA2 gene
            with the risk of breast cancer: bioinformatic and experimental
            analyses
  JOURNAL   World J Surg Oncol 22 (1), 142 (2024)
   PUBMED   38802807
  REMARK    GeneRIF: Association of deletion polymorphism rs10573247 in the
            HMGA2 gene with the risk of breast cancer: bioinformatic and
            experimental analyses.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4117)
  AUTHORS   Chau,K.Y., Patel,U.A., Lee,K.L., Lam,H.Y. and Crane-Robinson,C.
  TITLE     The gene for the human architectural transcription factor HMGI-C
            consists of five exons each coding for a distinct functional
            element
  JOURNAL   Nucleic Acids Res 23 (21), 4262-4266 (1995)
   PUBMED   7501444
REFERENCE   7  (bases 1 to 4117)
  AUTHORS   Ashar,H.R., Fejzo,M.S., Tkachenko,A., Zhou,X., Fletcher,J.A.,
            Weremowicz,S., Morton,C.C. and Chada,K.
  TITLE     Disruption of the architectural factor HMGI-C: DNA-binding AT hook
            motifs fused in lipomas to distinct transcriptional regulatory
            domains
  JOURNAL   Cell 82 (1), 57-65 (1995)
   PUBMED   7606786
REFERENCE   8  (bases 1 to 4117)
  AUTHORS   Schoenmakers,E.F., Mols,R., Wanschura,S., Kools,P.F., Geurts,J.M.,
            Bartnitzke,S., Bullerdiek,J., van den Berghe,H. and Van de Ven,W.J.
  TITLE     Identification, molecular cloning, and characterization of the
            chromosome 12 breakpoint cluster region of uterine leiomyomas
  JOURNAL   Genes Chromosomes Cancer 11 (2), 106-118 (1994)
   PUBMED   7529547
REFERENCE   9  (bases 1 to 4117)
  AUTHORS   Saal,H.M., Harbison,M.D. and Netchine,I.
  TITLE     Silver-Russell Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301499
REFERENCE   10 (bases 1 to 4117)
  AUTHORS   Manfioletti,G., Giancotti,V., Bandiera,A., Buratti,E., Sautiere,P.,
            Cary,P., Crane-Robinson,C., Coles,B. and Goodwin,G.H.
  TITLE     cDNA cloning of the HMGI-C phosphoprotein, a nuclear protein
            associated with neoplastic and undifferentiated phenotypes
  JOURNAL   Nucleic Acids Res 19 (24), 6793-6797 (1991)
   PUBMED   1762909
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z31595.1, AC107308.7,
            AC090673.5 and BM782659.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 29, 2020 this sequence version replaced NM_003483.5.
            
            Summary: 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. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U28749.1, X92518.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000403681.7/ ENSP00000384026.2
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-254               Z31595.1           25-278
            255-255             AC107308.7         68488-68488
            256-1176            Z31595.1           280-1200
            1177-4113           AC090673.5         110623-113559
            4114-4117           BM782659.1         393-396
FEATURES             Location/Qualifiers
     source          1..4117
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.3"
     gene            1..4117
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
                     /note="high mobility group AT-hook 2"
                     /db_xref="GeneID:8091"
                     /db_xref="HGNC:HGNC:5009"
                     /db_xref="MIM:600698"
     exon            1..899
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
                     /inference="alignment:Splign:2.1.0"
     CDS             789..1118
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
                     /note="isoform a is encoded by transcript variant 1; high
                     mobility group protein HMGI-C; HMGA2/KRT121P fusion"
                     /codon_start=1
                     /product="high mobility group protein HMGI-C isoform a"
                     /protein_id="NP_003474.1"
                     /db_xref="CCDS:CCDS44936.1"
                     /db_xref="GeneID:8091"
                     /db_xref="HGNC:HGNC:5009"
                     /db_xref="MIM:600698"
                     /translation="MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPS
                     PKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWPQQVVQKKPAQEETEETSS
                     QESAEED"
     exon            900..986
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1037
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1070
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..4117
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4023..4028
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
                     /note="hexamer: AATAAA"
     polyA_site      4045
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
                     /note="major polyA site"
     regulatory      4096..4101
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
                     /note="hexamer: AATAAA"
     polyA_site      4117
                     /gene="HMGA2"
                     /gene_synonym="BABL; HMGI-C; HMGIC; LIPO; SRS5; STQTL9"
ORIGIN      
        1 agaaaacttc cagcccgggc agcgcgcgct tggtgcaaga ctcaggagct agcagcccgt
       61 ccccctccga ctctccggtg ccgccgctgc ctgctcccgc caccctagga ggcgcggtgc
      121 cacccactac tctgtcctct gcctgtgctc cgtgcccgac cctatcccgg cggagtctcc
      181 ccatcctcct ttgctttccg actgcccaag gcactttcaa tctcaatctc ttctctctct
      241 ctctctctct ctctctctct ctctctctct ctctctctct ctctctcgca gggtgggggg
      301 aagaggagga ggaattcttt ccccgcctaa catttcaagg gacacaattc actccaagtc
      361 tcttcccttt ccaagccgct tccgaagtgc tcccggtgcc cgcaactcct gatcccaacc
      421 cgcgagagga gcctctgcga cctcaaagcc tctcttcctt ctccctcgct tccctcctcc
      481 tcttgctacc tccacctcca ccgccacctc cacctccggc acccacccac cgccgccgcc
      541 gccaccggca gcgcctcctc ctctcctcct cctcctcccc tcttctcttt ttggcagccg
      601 ctggacgtcc ggtgttgatg gtggcagcgg cggcagccta agcaacagca gccctcgcag
      661 cccgccagct cgcgctcgcc ccgccggcgt ccccagccct atcacctcat ctcccgaaag
      721 gtgctgggca gctccggggc ggtcgaggcg aagcggctgc agcggcggta gcggcggcgg
      781 gaggcaggat gagcgcacgc ggtgagggcg cggggcagcc gtccacttca gcccagggac
      841 aacctgccgc cccagcgcct cagaagagag gacgcggccg ccccaggaag cagcagcaag
      901 aaccaaccgg tgagccctct cctaagagac ccaggggaag acccaaaggc agcaaaaaca
      961 agagtccctc taaagcagct caaaagaaag cagaagccac tggagaaaaa cggccaagag
     1021 gcagacctag gaaatggcca caacaagttg ttcagaagaa gcctgctcag gaggaaactg
     1081 aagagacatc ctcacaagag tctgccgaag aggactaggg ggcgccaacg ttcgatttct
     1141 acctcagcag cagttggatc ttttgaaggg agaagacact gcagtgacca cttattctgt
     1201 attgccatgg tctttccact ttcatctggg gtggggtggg gtggggtggg ggaggggggg
     1261 gtggggtggg gagaaatcac ataaccttaa aaaggactat attaatcacc ttctttgtaa
     1321 tcccttcaca gtcccaggtt tagtgaaaaa ctgctgtaaa cacaggggac acagcttaac
     1381 aatgcaactt ttaattactg ttttcttttt tcttaaccta ctaatagttt gttgatctga
     1441 taagcaagag tgggcgggtg agaaaaaccg aattgggttt agtcaatcac tgcactgcat
     1501 gcaaacaaga aacgtgtcac acttgtgacg tcgggcattc atataggaag aacgcggtgt
     1561 gtaacactgt gtacacctca aataccaccc caacccactc cctgtagtga atcctctgtt
     1621 tagaacacca aagataagga ctagatacta ctttctcttt ttcgtataat cttgtagaca
     1681 cttacttgat gatttttaac tttttatttc taaatgagac gaaatgctga tgtatccttt
     1741 cattcagcta acaaactaga aaaggttatg ttcatttttc aaaaagggaa gtaagcaaac
     1801 aaatattgcc aactcttcta tttatggata tcacacatat cagcaggagt aataaattta
     1861 ctcacagcac ttgttttcag gacaacactt cattttcagg aaatctactt cctacagagc
     1921 caaaatgcca tttagcaata aataacactt gtcagcctca gagcatttaa ggaaactaga
     1981 caagtaaaat tatcctcttt gtaatttaat gaaaaggtac aacagaataa tgcatgatga
     2041 actcacctaa ttatgaggtg ggaggagcga aatctaaatt tcttttgcta tagttataca
     2101 tcaatttaaa aagcaaaaaa aaaaaagggg ggggcaatct ctctctgtgt ctttctctct
     2161 ctctcttcct ctccctctct cttttcattg tgtatcagtt tccatgaaag acctgaatac
     2221 cacttacctc aaattaagca tatgtgttac ttcaagtaat acgttttgac ataagatggt
     2281 tgaccaaggt gcttttcttc ggcttgagtt caccatctct tcattcaaac tgcactttta
     2341 gccagagatg caatatatcc ccactactca atactacctc tgaatgttac aacgaattta
     2401 cagtctagta cttattacat gctgctatac acaagcaatg caagaaaaaa acttactggg
     2461 taggtgattc taatcatctg cagttctttt tgtacactta attacagtta aagaagcaat
     2521 ctccttactg tgtttcagca tgactatgta tttttctatg tttttttaat taaaaatttt
     2581 taaaatactt gtttcagctt ctctgctaga tttctacatt aacttgaaaa ttttttaacc
     2641 aagtcgctcc taggttctta aggataattt tcctcaatca cactacacat cacacaagat
     2701 ttgactgtaa tatttaaata ttaccctcca agtctgtacc tcaaatgaat tctttaagga
     2761 gatggactaa ttgacttgca aagacctacc tccagacttc aaaaggaatg aacttgttac
     2821 ttgcagcatt catttgtttt ttcaatgttt gaaatagttc aaactgcagc taaccctagt
     2881 caaaactatt tttgtaaaag acatttgata gaaaggaaca cgtttttaca tacttttgca
     2941 aaataagtaa ataataaata aaataaaagc caaccttcaa agaaacttga agctttgtag
     3001 gtgagatgca acaagccctg cttttgcata atgcaatcaa aaatatgtgt ttttaagatt
     3061 agttgaatat aagaaaatgc ttgacaaata ttttcatgta ttttacacaa atgtgatttt
     3121 tgtaatatgt ctcaaccaga tttattttaa acgcttctta tgtagagttt ttatgccttt
     3181 ctctcctagt gagtgtgctg actttttaac atggtattat caactgggcc aggaggtagt
     3241 ttctcatgac ggcttttgtc agtatggctt ttagtactga agccaaatga aactcaaaac
     3301 catctctctt ccagctgctt cagggaggta gtttcaaagg ccacatacct ctctgagact
     3361 ggcagatcgc tcactgttgt gaatcaccaa aggagctatg gagagaatta aaactcaaca
     3421 ttactgttaa ctgtgcgtta aataagcaaa taaacagtgg ctcataaaaa taaaagtcgc
     3481 attccatatc tttggatggg ccttttagaa acctcattgg ccagctcata aaatggaagc
     3541 aattgctcat gttggccaaa catggtgcac cgagtgattt ccatctctgg taaagttaca
     3601 cttttatttc ctgtatgttg tacaatcaaa acacactact acctcttaag tcccagtata
     3661 cctcattttt catactgaaa aaaaaagctt gtggccaatg gaacagtaag aacatcataa
     3721 aatttttata tatatagttt atttttgtgg gagataaatt ttataggact gttctttgct
     3781 gttgttggtc gcagctacat aagactggac atttaacttt tctaccattt ctgcaagtta
     3841 ggtatgtttg caggagaaaa gtatcaagac gtttaactgc agttgacttt ctccctgttc
     3901 ctttgagtgt cttctaactt tattctttgt tctttatgta gaattgctgt ctatgattgt
     3961 actttgaatc gcttgcttgt tgaaaatatt tctctagtgt attatcactg tctgttctgc
     4021 acaataaaca taacagcctc tgtgatcccc atgtgttttg attcctgctc tttgttacag
     4081 ttccattaaa tgagtaataa agtttggtca aaacaga
//
