LOCUS       NM_001024630            5540 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens RUNX family transcription factor 2 (RUNX2), transcript
            variant 1, mRNA.
ACCESSION   NM_001024630
VERSION     NM_001024630.4
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 5540)
  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 5540)
  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 5540)
  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 5540)
  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 5540)
  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 5540)
  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 5540)
  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 5540)
  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 5540)
  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 5540)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001024630.3.
            
            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 (1) encodes the longest isoform
            (a, also known as OSF2/CBFA1a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments. There are no full-length
            transcripts supporting this RefSeq in human; however, it is
            represented based on PMID: 9434946, and full-length transcript
            support from the mouse homolog (GeneID: 12393, AF010284.1).
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2146982 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: PMID: 9434946
            MANE Ensembl match        :: ENST00000647337.2/ ENSP00000495497.1
            RefSeq Select criteria    :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-131               AL096865.28        121800-121930       c
            132-255             AL096865.28        121476-121599       c
            256-620             AL096865.28        27303-27667         c
            621-777             AL096865.28        18241-18397         c
            778-882             AL096865.28        12209-12313         c
            883-1056            AL358135.19        34471-34644
            1057-1218           AL161907.17        5353-5514
            1219-1284           AL161907.17        38324-38389
            1285-5540           AL161907.17        39934-44189
FEATURES             Location/Qualifiers
     source          1..5540
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..5540
                     /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..131
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            132..255
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     CDS             198..1763
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="isoform a is encoded by transcript variant 1;
                     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 a"
                     /protein_id="NP_001019801.3"
                     /db_xref="CCDS:CCDS43467.2"
                     /db_xref="GeneID:860"
                     /db_xref="HGNC:HGNC:10472"
                     /db_xref="MIM:600211"
                     /translation="MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSP
                     VVAAQQQQQQQQQQQQQQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTM
                     VEIIADHPAELVRTDSPNFLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGN
                     DENYSAELRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIK
                     VTVDGPREPRRHRQKLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSP
                     FNPQGQSQITDPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITD
                     VPRRISDDDTATSDFCLWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRM
                     HYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSSTPYLYYGTS
                     SGSYQFPMVPGGDRSPSRMLPPCTTTSNGSTLLNPNLPNQNDGVDADGSHSSSPTVLN
                     SSGRMDESVWRPY"
     exon            256..620
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            621..777
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            778..882
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1056
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1218
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1284
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..5540
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5514..5519
                     /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      5540
                     /gene="RUNX2"
                     /gene_synonym="AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD;
                     OSF-2; OSF2; PEA2aA; PEBP2aA"
                     /note="major polyA site"
ORIGIN      
        1 attcgcctca caaacaacca cagaaccaca agtgcggtgc aaactttctc caggaggaca
       61 gcaagaagtc tctggttttt aaatggttaa tctccgcagg tcactaccag ccaccgagac
      121 caacagagtc atttaaggct gcaagcagta tttacaacag agggtacaag ttctatctga
      181 aaaaaaaagg agggactatg gcatcaaaca gcctcttcag cacagtgaca ccatgtcagc
      241 aaaacttctt ttgggatccg agcaccagcc ggcgcttcag ccccccctcc agcagcctgc
      301 agcccggcaa aatgagcgac gtgagcccgg tggtggctgc gcaacagcag cagcaacagc
      361 agcagcagca acagcagcag cagcagcagc aacagcagca gcagcagcag gaggcggcgg
      421 cggcggctgc ggcggcggcg gcggctgcgg cggcggcagc tgcagtgccc cggttgcggc
      481 cgccccacga caaccgcacc atggtggaga tcatcgccga ccacccggcc gaactcgtcc
      541 gcaccgacag ccccaacttc ctgtgctcgg tgctgccctc gcactggcgc tgcaacaaga
      601 ccctgcccgt ggccttcaag gtggtagccc tcggagaggt accagatggg actgtggtta
      661 ctgtcatggc gggtaacgat gaaaattatt ctgctgagct ccggaatgcc tctgctgtta
      721 tgaaaaacca agtagcaagg ttcaacgatc tgagatttgt gggccggagt ggacgaggca
      781 agagtttcac cttgaccata accgtcttca caaatcctcc ccaagtagct acctatcaca
      841 gagcaattaa agttacagta gatggacctc gggaacccag aaggcacaga cagaagcttg
      901 atgactctaa acctagtttg ttctctgacc gcctcagtga tttagggcgc attcctcatc
      961 ccagtatgag agtaggtgtc ccgcctcaga acccacggcc ctccctgaac tctgcaccaa
     1021 gtccttttaa tccacaagga cagagtcaga ttacagaccc caggcaggca cagtcttccc
     1081 cgccgtggtc ctatgaccag tcttacccct cctacctgag ccagatgacg tccccgtcca
     1141 tccactctac caccccgctg tcttccacac ggggcactgg gcttcctgcc atcaccgatg
     1201 tgcctaggcg catttcagat gatgacactg ccacctctga cttctgcctc tggccttcca
     1261 ctctcagtaa gaagagccag gcaggtgctt cagaactggg ccctttttca gaccccaggc
     1321 agttcccaag catttcatcc ctcactgaga gccgcttctc caacccacga atgcactatc
     1381 cagccacctt tacttacacc ccgccagtca cctcaggcat gtccctcggt atgtccgcca
     1441 ccactcacta ccacacctac ctgccaccac cctaccccgg ctcttcccaa agccagagtg
     1501 gacccttcca gaccagcagc actccatatc tctactatgg cacttcgtca ggatcctatc
     1561 agtttcccat ggtgccgggg ggagaccggt ctccttccag aatgcttccg ccatgcacca
     1621 ccacctcgaa tggcagcacg ctattaaatc caaatttgcc taaccagaat gatggtgttg
     1681 acgctgatgg aagccacagc agttccccaa ctgttttgaa ttctagtggc agaatggatg
     1741 aatctgtttg gcgaccatat tgaaattcct cagcagtggc ccagtggtat ctgggggcca
     1801 catcccacac gtatcaatat atacatatat agagagagtg catatatatg tatatcgatt
     1861 agctatctac aaagtgccta ttttttagaa gatttttcat tcactcactc agtcatgatc
     1921 ttgcagccat aagagggtag atattgagaa gcagaaggct caagagagac aattgcaatc
     1981 gagcttcaga ttgtttacta tttaagatgt acttttacaa aggaacaaag aagggaaaag
     2041 gtatttttgt ttttgttgtt tggtctgtta tcatcaataa cctgttcata tgccaattca
     2101 gagaggtgga ctccaggttc aggagggaga agagcaaagc cgcttcctct ctgtgctttg
     2161 aaacttcaca ccctcacggt ggcagctgtg tatggaccag tgccctccgc agacagctca
     2221 caaaaccagt tgaggtgcac taaagggaca tgaggtagaa tggatgcttc catcacagta
     2281 ccatcattca gaataactct tccaatttct gctttcagac atgctgcagg tcctcatctg
     2341 aactgttggg ttcgtttttt tttttttttt tcctgctcca agaaagtgac ttcaaaaata
     2401 actgatcagg atagattatt ttattttact ttttaacact ccttctcccc ttttcccact
     2461 gaaccaaaaa gaaatcccat ccctaaaacc tgccttctcc ttttatgcaa aactgaaaat
     2521 ggcaatacat tattatagcc ataatggtat agatagtgat tgcgtttggc tatgtgttgt
     2581 tttctttttt tttaaattat gaatatgtgt aaaatctgag gtaacttgct aacgtgaatg
     2641 gtcatataac tttaaagata tatttataat tatttaatga catttggacc cttgaaacat
     2701 ttcttagtgt attgatatgt tgacttcggt ctctaaaagt gctctttatt aaataacaaa
     2761 tttcttcagt ggtctagagc catatctgaa atattgctaa gcaatttcag ttcatccagg
     2821 cacaatgtga ttttaaaaaa tacttccatc tccaaatatt ttagatatag attgtttttg
     2881 tgatgtatga aggaaatgtt atgtttagtt ctttcagatc tttgaatgcc tctaacacag
     2941 ctttgccttc taaagcggta attagggatt taaaaaacaa cctttagccc tttatcagca
     3001 tgaaatgctg gagtgatgtg gttttctaat ttctttgggg taattatgac tcttgtcata
     3061 ttaaaaagac aagcacaagt aaatcattga actacagaaa aatgttctgt ggtttcatag
     3121 ttaagcaaaa ctctaaatcg ccaggcttca tagcaaagac atagtcagct aaaagccgca
     3181 catgtggata gagggttcaa ttatgagaca cctagtacag gagagcaaaa ttgcaccaga
     3241 gattcttaac caaccagcct taccaaacaa cacaacaggg gaaccccaat ctgccttacc
     3301 caaggcccca ctggcagctt tccacagaat ttgcatttag aggagcagaa tgacatcact
     3361 gtcctttggg agtaggtcct ctgaaaaggc agcaggttcc agcaggtagc tgagctgaga
     3421 ggacatatgg cccacgggga cctacagaca gcctttgaca tttgtatttc ttacaatgga
     3481 gggccaagga gggcaagggg ctgtggagtt tggtgtctac tagtgtgtat gaatttgagc
     3541 tagagtcctt ctgtggcatg cactttgacc actcctggca gtcacatggc agatttccaa
     3601 gtgcaaatcc ttaatccaaa caaggatcat ctaatgacac caccaggcca atccctgctc
     3661 tcctccccga aaagtcaggg tcccttcatt ggaatcctcc acccacccaa gcagaattta
     3721 gcagagattt gccttcaaac cctaacggcc cccttgttct ctggtccttc tcaaacccac
     3781 ctttgtaggc cacccagcat tgcaggacag cgtgtggggc agctggacct gtgcttcctg
     3841 cctgggagtc tcccttggaa ttcatcctga ctccttctaa taaaaatgga tgggaaagca
     3901 aaacactttg ccttctaaag gccgtatacc aagtatgctt agataaataa gccacttttc
     3961 tattacttaa gtaagaagga agtagtaatt gatactattt attgtttgtg tgtggtagct
     4021 tgaagcacac cactgtccat ttatttgtaa gtgtaaaata tgtgtgtttg tttcagcagc
     4081 acttaaaaaa gccagtgtct ggttacacat ttcaatttta attaattgac ataaaaatgc
     4141 taccgccagt gccagctgca tcctatttaa ttaaaaaggt actatatttg tacattattt
     4201 tttaatgtta aaagggcttt tttaagttta cagtacacat accgagtgac tttagggatg
     4261 cttttgtgtt gaaatgttac tatagtggct gcaggcagca acccagaaac actttagaag
     4321 ctttttttcc ttgggaaaaa ttcaagcact tcttccctcc accctcactc caaccacccc
     4381 aatgggggta attcacattt cttagaacaa attctgccct tttttggtct agggattaaa
     4441 attttgtttt tctttctttc tttttttttt tttttcactg aacccttaat ttgcactggg
     4501 tcatgtgttt gatttgtgat ttcaagacca aagcaaagtc ttactactac tgtggaacca
     4561 tgtactagtt cctgggaatt aaaatagcgt ggttctcttt gtagcacaaa cattgctgga
     4621 atttgcagtc ttttcaatgc agccacattt ttatccattt cagttgtctc acaaatttta
     4681 acccatatca gagttccaga acaggtacca cagctttggt tttagattag tggaataaca
     4741 ttcagcccag aactgagaaa ctcaacagat taactatcgt ttgctcttta gacggtctca
     4801 ctgcctctca cttgccagag ccctttcaaa atgagcagag aagtccacac cattagggac
     4861 catctgtgat aaattcagaa gggaggagat gtgtgtacag ctttaaggat tccctcaatt
     4921 ccgaggaaag ggactggccc agaatccagg ttaatacatg gaaacacgaa gcattagcaa
     4981 aagtaataat tatacctatg gtatttgaaa gaacaataat aaaagacact tcttccaaac
     5041 cttgaatttg ttgtttttag aaaacgaatg catttaaaaa tattttctat gtgagaattt
     5101 tttagatgtg tgtttacttc atgtttacaa ataactgttt gctttttaat gcagtacttt
     5161 gaaatatatc agccaaaacc ataacttaca ataatttctt aggtattctg aataaaattc
     5221 catttctttt ggatatgctt taccattctt aggtttctgt ggaacaaaaa tatttgtagc
     5281 attttgtgta aatacaagct ttcattttta ttttttccaa ttgctattgc ccaagaattg
     5341 ctttccatgc acatattgta aaaattccgc tttgtgccac aggtcatgat tgtggatgag
     5401 tttactctta acttcaaagg gactatttgt attgtatgtt gcaactgtaa attgaattat
     5461 ttggcatttt tctcatgatt gtaatattaa tttgaagttt gaatttaatt ttcaataaaa
     5521 tggctttttt ggttttgtta
//
