LOCUS       NM_001278478            5537 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens RUNX family transcription factor 2 (RUNX2), transcript
            variant 4, mRNA.
ACCESSION   NM_001278478
VERSION     NM_001278478.2
KEYWORDS    RefSeq.
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 5537)
  AUTHORS   Komori,T.
  TITLE     Regulation of Skeletal Development and Maintenance by Runx2 and Sp7
  JOURNAL   Int J Mol Sci 25 (18), 10102 (2024)
   PUBMED   39337587
  REMARK    GeneRIF: Regulation of Skeletal Development and Maintenance by
            Runx2 and Sp7.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5537)
  AUTHORS   Vitale,E., Manicardi,V., Gugnoni,M., Torricelli,F., Donati,B.,
            Muccioli,S., Salviato,E., Rossi,T., Manzotti,G., Piana,S. and
            Ciarrocchi,A.
  TITLE     Exploring the transcriptional cooperation between RUNX2 and its
            associated elncRNA RAIN
  JOURNAL   Cell Death Dis 15 (9), 673 (2024)
   PUBMED   39271656
  REMARK    GeneRIF: Exploring the transcriptional cooperation between RUNX2
            and its associated elncRNA RAIN.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5537)
  AUTHORS   Yalaev,B., Tyurin,A., Akhiiarova,K. and Khusainova,R.
  TITLE     Hypomethylation of the RUNX2 Gene Is a New Potential Biomarker of
            Primary Osteoporosis in Men and Women
  JOURNAL   Int J Mol Sci 25 (13), 7312 (2024)
   PUBMED   39000419
  REMARK    GeneRIF: Hypomethylation of the RUNX2 Gene Is a New Potential
            Biomarker of Primary Osteoporosis in Men and Women.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5537)
  AUTHORS   Drissi,H., Luc,Q., Shakoori,R., Chuva De Sousa Lopes,S., Choi,J.Y.,
            Terry,A., Hu,M., Jones,S., Neil,J.C., Lian,J.B., Stein,J.L., Van
            Wijnen,A.J. and Stein,G.S.
  TITLE     Transcriptional autoregulation of the bone related CBFA1/RUNX2 gene
  JOURNAL   J Cell Physiol 184 (3), 341-350 (2000)
   PUBMED   10911365
REFERENCE   5  (bases 1 to 5537)
  AUTHORS   Geoffroy,V., Corral,D.A., Zhou,L., Lee,B. and Karsenty,G.
  TITLE     Genomic organization, expression of the human CBFA1 gene, and
            evidence for an alternative splicing event affecting protein
            function
  JOURNAL   Mamm Genome 9 (1), 54-57 (1998)
   PUBMED   9434946
REFERENCE   6  (bases 1 to 5537)
  AUTHORS   Mundlos,S., Otto,F., Mundlos,C., Mulliken,J.B., Aylsworth,A.S.,
            Albright,S., Lindhout,D., Cole,W.G., Henn,W., Knoll,J.H.,
            Owen,M.J., Mertelsmann,R., Zabel,B.U. and Olsen,B.R.
  TITLE     Mutations involving the transcription factor CBFA1 cause
            cleidocranial dysplasia
  JOURNAL   Cell 89 (5), 773-779 (1997)
   PUBMED   9182765
REFERENCE   7  (bases 1 to 5537)
  AUTHORS   Feldman,G.J., Robin,N.H., Brueton,L.A., Robertson,E.,
            Thompson,E.M., Siegel-Bartelt,J., Gasser,D.L., Bailey,L.C.,
            Zackai,E.H. and Muenke,M.
  TITLE     A gene for cleidocranial dysplasia maps to the short arm of
            chromosome 6
  JOURNAL   Am J Hum Genet 56 (4), 938-943 (1995)
   PUBMED   7717404
REFERENCE   8  (bases 1 to 5537)
  AUTHORS   Levanon,D., Negreanu,V., Bernstein,Y., Bar-Am,I., Avivi,L. and
            Groner,Y.
  TITLE     AML1, AML2, and AML3, the human members of the runt domain
            gene-family: cDNA structure, expression, and chromosomal
            localization
  JOURNAL   Genomics 23 (2), 425-432 (1994)
   PUBMED   7835892
REFERENCE   9  (bases 1 to 5537)
  AUTHORS   Ogawa,E., Maruyama,M., Kagoshima,H., Inuzuka,M., Lu,J., Satake,M.,
            Shigesada,K. and Ito,Y.
  TITLE     PEBP2/PEA2 represents a family of transcription factors homologous
            to the products of the Drosophila runt gene and the human AML1 gene
  JOURNAL   Proc Natl Acad Sci U S A 90 (14), 6859-6863 (1993)
   PUBMED   8341710
REFERENCE   10 (bases 1 to 5537)
  AUTHORS   Machol,K., Mendoza-Londono,R. and Lee,B.
  TITLE     Cleidocranial Dysplasia Spectrum Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301686
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL096865.28, AL358135.19 and
            AL161907.17.
            
            On Apr 9, 2019 this sequence version replaced NM_001278478.1.
            
            Summary: This gene is a member of the RUNX family of transcription
            factors and encodes a nuclear protein with an Runt DNA-binding
            domain. This protein is essential for osteoblastic differentiation
            and skeletal morphogenesis and acts as a scaffold for nucleic acids
            and regulatory factors involved in skeletal gene expression. The
            protein can bind DNA both as a monomer or, with more affinity, as a
            subunit of a heterodimeric complex. Two regions of potential
            trinucleotide repeat expansions are present in the N-terminal
            region of the encoded protein, and these and other mutations in
            this gene have been associated with the bone development disorder
            cleidocranial dysplasia (CCD). Transcript variants that encode
            different protein isoforms result from the use of alternate
            promoters as well as alternate splicing. [provided by RefSeq, Jul
            2016].
            
            Transcript Variant: This variant (4) contains an alternate 5'-most
            exon, lacks an in-frame exon in the 3' coding region, and initiates
            translation at an alternate start codon, compared to variant 1. The
            encoded isoform (d) has a distinct and shorter N-terminus, compared
            to 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 :: SRR6380202.78952.5, L40992.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-683               AL096865.28        27303-27985         c
            684-840             AL096865.28        18241-18397         c
            841-945             AL096865.28        12209-12313         c
            946-1119            AL358135.19        34471-34644
            1120-1281           AL161907.17        5353-5514
            1282-5537           AL161907.17        39934-44189
FEATURES             Location/Qualifiers
     source          1..5537
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..5537
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="RUNX family transcription factor 2"
                     /db_xref="GeneID:860"
                     /db_xref="HGNC:HGNC:10472"
                     /db_xref="MIM:600211"
     exon            1..683
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     CDS             303..1760
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="isoform d is encoded by transcript variant 4;
                     core-binding factor, runt domain, alpha subunit 1; acute
                     myeloid leukemia 3 protein; SL3-3 enhancer factor 1 alpha
                     A subunit; runt related transcription factor 2; SL3/AKV
                     core-binding factor alpha A subunit; osteoblast-specific
                     transcription factor 2; PEA2-alpha A; PEBP2-alpha A;
                     oncogene AML-3; polyomavirus enhancer-binding protein 2
                     alpha A subunit"
                     /codon_start=1
                     /product="runt-related transcription factor 2 isoform d"
                     /protein_id="NP_001265407.1"
                     /db_xref="CCDS:CCDS64443.1"
                     /db_xref="GeneID:860"
                     /db_xref="HGNC:HGNC:10472"
                     /db_xref="MIM:600211"
                     /translation="MRIPVDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQ
                     QQQQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRT
                     DSPNFLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAV
                     MKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQ
                     KLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQ
                     AQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISGASELGPF
                     SDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPG
                     SSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGSTLLNPN
                     LPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY"
     exon            684..840
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            841..945
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            946..1119
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1281
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..5537
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5511..5516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="hexamer: AATAAA"
     polyA_site      5537
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="major polyA site"
ORIGIN      
        1 aaacacaccc ccgcgcccgt tcgcagctgc caccccgggt gttccaaaga ctccggcaaa
       61 gatctgcgcc tcccgggtct ccctacccgc cagcccgact gcgccgcatc gccagactct
      121 gttggcccat cagactccgc ccggcagtcg gcctcatcaa acttgatttc tcacctcctc
      181 agccccatca cctccatcct ctttcccccc gtctcgcctt caccccccca atttcctcct
      241 tgcccctcat ttccaccctc ctccccctcc cccggccact tcgctaactt gtggctgttg
      301 tgatgcgtat tcccgtagat ccgagcacca gccggcgctt cagccccccc tccagcagcc
      361 tgcagcccgg caaaatgagc gacgtgagcc cggtggtggc tgcgcaacag cagcagcaac
      421 agcagcagca gcaacagcag cagcagcagc agcaacagca gcagcagcag caggaggcgg
      481 cggcggcggc tgcggcggcg gcggcggctg cggcggcggc agctgcagtg ccccggttgc
      541 ggccgcccca cgacaaccgc accatggtgg agatcatcgc cgaccacccg gccgaactcg
      601 tccgcaccga cagccccaac ttcctgtgct cggtgctgcc ctcgcactgg cgctgcaaca
      661 agaccctgcc cgtggccttc aaggtggtag ccctcggaga ggtaccagat gggactgtgg
      721 ttactgtcat ggcgggtaac gatgaaaatt attctgctga gctccggaat gcctctgctg
      781 ttatgaaaaa ccaagtagca aggttcaacg atctgagatt tgtgggccgg agtggacgag
      841 gcaagagttt caccttgacc ataaccgtct tcacaaatcc tccccaagta gctacctatc
      901 acagagcaat taaagttaca gtagatggac ctcgggaacc cagaaggcac agacagaagc
      961 ttgatgactc taaacctagt ttgttctctg accgcctcag tgatttaggg cgcattcctc
     1021 atcccagtat gagagtaggt gtcccgcctc agaacccacg gccctccctg aactctgcac
     1081 caagtccttt taatccacaa ggacagagtc agattacaga ccccaggcag gcacagtctt
     1141 ccccgccgtg gtcctatgac cagtcttacc cctcctacct gagccagatg acgtccccgt
     1201 ccatccactc taccaccccg ctgtcttcca cacggggcac tgggcttcct gccatcaccg
     1261 atgtgcctag gcgcatttca ggtgcttcag aactgggccc tttttcagac cccaggcagt
     1321 tcccaagcat ttcatccctc actgagagcc gcttctccaa cccacgaatg cactatccag
     1381 ccacctttac ttacaccccg ccagtcacct caggcatgtc cctcggtatg tccgccacca
     1441 ctcactacca cacctacctg ccaccaccct accccggctc ttcccaaagc cagagtggac
     1501 ccttccagac cagcagcact ccatatctct actatggcac ttcgtcagga tcctatcagt
     1561 ttcccatggt gccgggggga gaccggtctc cttccagaat gcttccgcca tgcaccacca
     1621 cctcgaatgg cagcacgcta ttaaatccaa atttgcctaa ccagaatgat ggtgttgacg
     1681 ctgatggaag ccacagcagt tccccaactg ttttgaattc tagtggcaga atggatgaat
     1741 ctgtttggcg accatattga aattcctcag cagtggccca gtggtatctg ggggccacat
     1801 cccacacgta tcaatatata catatataga gagagtgcat atatatgtat atcgattagc
     1861 tatctacaaa gtgcctattt tttagaagat ttttcattca ctcactcagt catgatcttg
     1921 cagccataag agggtagata ttgagaagca gaaggctcaa gagagacaat tgcaatcgag
     1981 cttcagattg tttactattt aagatgtact tttacaaagg aacaaagaag ggaaaaggta
     2041 tttttgtttt tgttgtttgg tctgttatca tcaataacct gttcatatgc caattcagag
     2101 aggtggactc caggttcagg agggagaaga gcaaagccgc ttcctctctg tgctttgaaa
     2161 cttcacaccc tcacggtggc agctgtgtat ggaccagtgc cctccgcaga cagctcacaa
     2221 aaccagttga ggtgcactaa agggacatga ggtagaatgg atgcttccat cacagtacca
     2281 tcattcagaa taactcttcc aatttctgct ttcagacatg ctgcaggtcc tcatctgaac
     2341 tgttgggttc gttttttttt ttttttttcc tgctccaaga aagtgacttc aaaaataact
     2401 gatcaggata gattatttta ttttactttt taacactcct tctccccttt tcccactgaa
     2461 ccaaaaagaa atcccatccc taaaacctgc cttctccttt tatgcaaaac tgaaaatggc
     2521 aatacattat tatagccata atggtataga tagtgattgc gtttggctat gtgttgtttt
     2581 cttttttttt aaattatgaa tatgtgtaaa atctgaggta acttgctaac gtgaatggtc
     2641 atataacttt aaagatatat ttataattat ttaatgacat ttggaccctt gaaacatttc
     2701 ttagtgtatt gatatgttga cttcggtctc taaaagtgct ctttattaaa taacaaattt
     2761 cttcagtggt ctagagccat atctgaaata ttgctaagca atttcagttc atccaggcac
     2821 aatgtgattt taaaaaatac ttccatctcc aaatatttta gatatagatt gtttttgtga
     2881 tgtatgaagg aaatgttatg tttagttctt tcagatcttt gaatgcctct aacacagctt
     2941 tgccttctaa agcggtaatt agggatttaa aaaacaacct ttagcccttt atcagcatga
     3001 aatgctggag tgatgtggtt ttctaatttc tttggggtaa ttatgactct tgtcatatta
     3061 aaaagacaag cacaagtaaa tcattgaact acagaaaaat gttctgtggt ttcatagtta
     3121 agcaaaactc taaatcgcca ggcttcatag caaagacata gtcagctaaa agccgcacat
     3181 gtggatagag ggttcaatta tgagacacct agtacaggag agcaaaattg caccagagat
     3241 tcttaaccaa ccagccttac caaacaacac aacaggggaa ccccaatctg ccttacccaa
     3301 ggccccactg gcagctttcc acagaatttg catttagagg agcagaatga catcactgtc
     3361 ctttgggagt aggtcctctg aaaaggcagc aggttccagc aggtagctga gctgagagga
     3421 catatggccc acggggacct acagacagcc tttgacattt gtatttctta caatggaggg
     3481 ccaaggaggg caaggggctg tggagtttgg tgtctactag tgtgtatgaa tttgagctag
     3541 agtccttctg tggcatgcac tttgaccact cctggcagtc acatggcaga tttccaagtg
     3601 caaatcctta atccaaacaa ggatcatcta atgacaccac caggccaatc cctgctctcc
     3661 tccccgaaaa gtcagggtcc cttcattgga atcctccacc cacccaagca gaatttagca
     3721 gagatttgcc ttcaaaccct aacggccccc ttgttctctg gtccttctca aacccacctt
     3781 tgtaggccac ccagcattgc aggacagcgt gtggggcagc tggacctgtg cttcctgcct
     3841 gggagtctcc cttggaattc atcctgactc cttctaataa aaatggatgg gaaagcaaaa
     3901 cactttgcct tctaaaggcc gtataccaag tatgcttaga taaataagcc acttttctat
     3961 tacttaagta agaaggaagt agtaattgat actatttatt gtttgtgtgt ggtagcttga
     4021 agcacaccac tgtccattta tttgtaagtg taaaatatgt gtgtttgttt cagcagcact
     4081 taaaaaagcc agtgtctggt tacacatttc aattttaatt aattgacata aaaatgctac
     4141 cgccagtgcc agctgcatcc tatttaatta aaaaggtact atatttgtac attatttttt
     4201 aatgttaaaa gggctttttt aagtttacag tacacatacc gagtgacttt agggatgctt
     4261 ttgtgttgaa atgttactat agtggctgca ggcagcaacc cagaaacact ttagaagctt
     4321 tttttccttg ggaaaaattc aagcacttct tccctccacc ctcactccaa ccaccccaat
     4381 gggggtaatt cacatttctt agaacaaatt ctgccctttt ttggtctagg gattaaaatt
     4441 ttgtttttct ttctttcttt tttttttttt ttcactgaac ccttaatttg cactgggtca
     4501 tgtgtttgat ttgtgatttc aagaccaaag caaagtctta ctactactgt ggaaccatgt
     4561 actagttcct gggaattaaa atagcgtggt tctctttgta gcacaaacat tgctggaatt
     4621 tgcagtcttt tcaatgcagc cacattttta tccatttcag ttgtctcaca aattttaacc
     4681 catatcagag ttccagaaca ggtaccacag ctttggtttt agattagtgg aataacattc
     4741 agcccagaac tgagaaactc aacagattaa ctatcgtttg ctctttagac ggtctcactg
     4801 cctctcactt gccagagccc tttcaaaatg agcagagaag tccacaccat tagggaccat
     4861 ctgtgataaa ttcagaaggg aggagatgtg tgtacagctt taaggattcc ctcaattccg
     4921 aggaaaggga ctggcccaga atccaggtta atacatggaa acacgaagca ttagcaaaag
     4981 taataattat acctatggta tttgaaagaa caataataaa agacacttct tccaaacctt
     5041 gaatttgttg tttttagaaa acgaatgcat ttaaaaatat tttctatgtg agaatttttt
     5101 agatgtgtgt ttacttcatg tttacaaata actgtttgct ttttaatgca gtactttgaa
     5161 atatatcagc caaaaccata acttacaata atttcttagg tattctgaat aaaattccat
     5221 ttcttttgga tatgctttac cattcttagg tttctgtgga acaaaaatat ttgtagcatt
     5281 ttgtgtaaat acaagctttc atttttattt tttccaattg ctattgccca agaattgctt
     5341 tccatgcaca tattgtaaaa attccgcttt gtgccacagg tcatgattgt ggatgagttt
     5401 actcttaact tcaaagggac tatttgtatt gtatgttgca actgtaaatt gaattatttg
     5461 gcatttttct catgattgta atattaattt gaagtttgaa tttaattttc aataaaatgg
     5521 cttttttggt tttgtta
//
