LOCUS       NM_003238               5868 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens transforming growth factor beta 2 (TGFB2), transcript
            variant 2, mRNA.
ACCESSION   NM_003238
VERSION     NM_003238.6
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 5868)
  AUTHORS   Wang,Z., Kometani,M., Zeitlin,L., Wilnai,Y., Kinoshita,A.,
            Yoshiura,K.I., Ninomiya,H., Imamura,T., Guo,L., Xue,J., Yan,L.,
            Ohashi,H., Pretemer,Y., Kawai,S., Shiina,M., Ogata,K., Cohn,D.H.,
            Matsumoto,N., Nishimura,G., Toguchida,J., Miyake,N. and Ikegawa,S.
  TITLE     Heterozygous mutations in the straitjacket region of the
            latency-associated peptide domain of TGFB2 cause Camurati-Engelmann
            disease type II
  JOURNAL   J Hum Genet 69 (11), 599-605 (2024)
   PUBMED   39014191
  REMARK    GeneRIF: Heterozygous mutations in the straitjacket region of the
            latency-associated peptide domain of TGFB2 cause Camurati-Engelmann
            disease type II.
REFERENCE   2  (bases 1 to 5868)
  AUTHORS   Usman,K., Fouadi,M., Nwozor,K.O., Aminazadeh,F., Nair,P., Luo,H.,
            Sin,D.D., Osei,E.T. and Hackett,T.L.
  TITLE     Interleukin-1alpha inhibits transforming growth factor-beta1 and
            beta2-induced extracellular matrix production, remodeling and
            signaling in human lung fibroblasts: Master regulator in lung
            mucosal repair
  JOURNAL   Matrix Biol 132, 47-58 (2024)
   PUBMED   39147560
  REMARK    GeneRIF: Interleukin-1alpha inhibits transforming growth
            factor-beta1 and beta2-induced extracellular matrix production,
            remodeling and signaling in human lung fibroblasts: Master
            regulator in lung mucosal repair.
REFERENCE   3  (bases 1 to 5868)
  AUTHORS   Jafarian,M., Hasannia,T., Badameh,P., Behmanesh,M. and Soltani,B.M.
  TITLE     Introduction of miR-3613-3p as a regulator of transforming growth
            factor-beta (TGF-beta) signaling pathway in colorectal cancer
  JOURNAL   Mol Biol Rep 51 (1), 728 (2024)
   PUBMED   38861185
  REMARK    GeneRIF: Introduction of miR-3613-3p as a regulator of transforming
            growth factor-beta (TGF-beta) signaling pathway in colorectal
            cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5868)
  AUTHORS   Hu,X., Li,D., Zhan,J., Yang,C., Wang,P., Meng,X., Xu,S., Che,X. and
            Xu,L.
  TITLE     microRNA-141-3p Suppressed the Progression of the Clear Cell Renal
            Cell Carcinoma by Targeting Transforming Growth Factor Beta 2 Gene
            Expression
  JOURNAL   DNA Cell Biol 43 (5), 245-257 (2024)
   PUBMED   38489601
  REMARK    GeneRIF: microRNA-141-3p Suppressed the Progression of the Clear
            Cell Renal Cell Carcinoma by Targeting Transforming Growth Factor
            Beta 2 Gene Expression.
REFERENCE   5  (bases 1 to 5868)
  AUTHORS   Loeys,B.L. and Dietz,H.C.
  TITLE     Loeys-Dietz Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301312
REFERENCE   6  (bases 1 to 5868)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   7  (bases 1 to 5868)
  AUTHORS   Wrana,J.L., Attisano,L., Carcamo,J., Zentella,A., Doody,J.,
            Laiho,M., Wang,X.F. and Massague,J.
  TITLE     TGF beta signals through a heteromeric protein kinase receptor
            complex
  JOURNAL   Cell 71 (6), 1003-1014 (1992)
   PUBMED   1333888
REFERENCE   8  (bases 1 to 5868)
  AUTHORS   Schlunegger,M.P. and Grutter,M.G.
  TITLE     An unusual feature revealed by the crystal structure at 2.2 A
            resolution of human transforming growth factor-beta 2
  JOURNAL   Nature 358 (6385), 430-434 (1992)
   PUBMED   1641027
REFERENCE   9  (bases 1 to 5868)
  AUTHORS   Daopin,S., Piez,K.A., Ogawa,Y. and Davies,D.R.
  TITLE     Crystal structure of transforming growth factor-beta 2: an unusual
            fold for the superfamily
  JOURNAL   Science 257 (5068), 369-373 (1992)
   PUBMED   1631557
REFERENCE   10 (bases 1 to 5868)
  AUTHORS   Noma,T., Glick,A.B., Geiser,A.G., O'Reilly,M.A., Miller,J.,
            Roberts,A.B. and Sporn,M.B.
  TITLE     Molecular cloning and structure of the human transforming growth
            factor-beta 2 gene promoter
  JOURNAL   Growth Factors 4 (4), 247-255 (1991)
   PUBMED   1764261
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096638.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_003238.5.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate a latency-associated peptide
            (LAP) and a mature peptide, and is found in either a latent form
            composed of a mature peptide homodimer, a LAP homodimer, and a
            latent TGF-beta binding protein, or in an active form consisting
            solely of the mature peptide homodimer. The mature peptide may also
            form heterodimers with other TGF-beta family members. Disruption of
            the TGF-beta/SMAD pathway has been implicated in a variety of human
            cancers. A chromosomal translocation that includes this gene is
            associated with Peters' anomaly, a congenital defect of the
            anterior chamber of the eye. Mutations in this gene may be
            associated with Loeys-Dietz syndrome. This gene encodes multiple
            isoforms that may undergo similar proteolytic processing. [provided
            by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            5' coding region compared to variant 1. The resulting isoform (2)
            is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803613.84132.1,
                                           SRR1803612.183508.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366930.9/ ENSP00000355897.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1712              AC096638.2         52702-54413
            1713-1876           AC096638.2         112535-112698
            1877-2009           AC096638.2         141448-141580
            2010-2120           AC096638.2         141704-141814
            2121-2298           AC096638.2         143336-143513
            2299-2452           AC096638.2         144709-144862
            2453-5868           AC096638.2         148570-151985
FEATURES             Location/Qualifiers
     source          1..5868
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     gene            1..5868
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /note="transforming growth factor beta 2"
                     /db_xref="GeneID:7042"
                     /db_xref="HGNC:HGNC:11768"
                     /db_xref="MIM:190220"
     exon            1..1712
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /inference="alignment:Splign:2.1.0"
     CDS             1367..2611
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; cetermin; polyergin; BSC-1 cell growth
                     inhibitor; glioblastoma-derived T-cell suppressor factor;
                     prepro-transforming growth factor beta-2; transforming
                     growth factor beta-2 proprotein"
                     /codon_start=1
                     /product="transforming growth factor beta-2 proprotein
                     isoform 2 preproprotein"
                     /protein_id="NP_003229.1"
                     /db_xref="CCDS:CCDS1521.1"
                     /db_xref="GeneID:7042"
                     /db_xref="HGNC:HGNC:11768"
                     /db_xref="MIM:190220"
                     /translation="MHYCVLSAFLILHLVTVALSLSTCSTLDMDQFMRKRIEAIRGQI
                     LSKLKLTSPPEDYPEPEEVPPEVISIYNSTRDLLQEKASRRAAACERERSDEEYYAKE
                     VYKIDMPPFFPSENAIPPTFYRPYFRIVRFDVSAMEKNASNLVKAEFRVFRLQNPKAR
                     VPEQRIELYQILKSKDLTSPTQRYIDSKVVKTRAEGEWLSFDVTDAVHEWLHHKDRNL
                     GFKISLHCPCCTFVPSNNYIIPNKSEELEARFAGIDGTSTYTSGDQKTIKSTRKKNSG
                     KTPHLLLMLLPSYRLESQQTNRRKKRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKW
                     IHEPKGYNANFCAGACPYLWSSDTQHSRVLSLYNTINPEASASPCCVSQDLEPLTILY
                     YIGKTPKIEQLSNMIVKSCKCS"
     exon            1713..1876
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /inference="alignment:Splign:2.1.0"
     exon            1877..2009
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /inference="alignment:Splign:2.1.0"
     exon            2010..2120
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /inference="alignment:Splign:2.1.0"
     exon            2121..2298
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /inference="alignment:Splign:2.1.0"
     exon            2299..2452
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /inference="alignment:Splign:2.1.0"
     exon            2453..5868
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5226..5231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /note="hexamer: AATAAA"
     polyA_site      5245
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /note="major polyA site"
     regulatory      5831..5836
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /note="hexamer: AATAAA"
     regulatory      5844..5849
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
                     /note="hexamer: AATAAA"
     polyA_site      5853
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
     polyA_site      5868
                     /gene="TGFB2"
                     /gene_synonym="G-TSF; LDS4; TGF-beta2"
ORIGIN      
        1 gatgttatct gctggcagca gaaggttcgc tccgagcgga gctccagaag ctcctgacaa
       61 gagaaagaca gattgagata gagatagaaa gagaaagaga gaaagagaca gcagagcgag
      121 agcgcaagtg aaagaggcag gggaggggga tggagaatat tagcctgacg gtctagggag
      181 tcatccagga acaaactgag gggctgcccg gctgcagaca ggaggagaca gagaggatct
      241 attttagggt ggcaagtgcc tacctaccct aagcgagcaa ttccacgttg gggagaagcc
      301 agcagaggtt gggaaagggt gggagtccaa gggagcccct gcgcaacccc ctcaggaata
      361 aaactcccca gccagggtgt cgcaagggct gccgttgtga tccgcagggg gtgaacgcaa
      421 ccgcgacggc tgatcgtctg tggctgggtt ggcgtttgga gcaagagaag gaggagcagg
      481 agaaggaggg agctggaggc tggaagcgtt tgcaagcggc ggcggcagca acgtggagta
      541 accaagcggg tcagcgcgcg cccgccaggg tgtaggccac ggagcgcagc tcccagagca
      601 ggatccgcgc cgcctcagca gcctctgcgg cccctgcggc acccgaccga gtaccgagcg
      661 ccctgcgaag cgcaccctcc tccccgcggt gcgctgggct cgcccccagc gcgcgcacac
      721 gcacacacac acacacacac acacacgcac gcacacacgt gtgcgcttct ctgctccgga
      781 gctgctgctg ctcctgctct cagcgccgca gtggaaggca ggaccgaacc gctccttctt
      841 taaatatata aatttcagcc caggtcagcc tcggcggccc ccctcaccgc gctcccggcg
      901 cccctcccgt cagttcgcca gctgccagcc ccgggacctt ttcatctctt cccttttggc
      961 cggaggagcc gagttcagat ccgccactcc gcacccgaga ctgacacact gaactccact
     1021 tcctcctctt aaatttattt ctacttaata gccactcgtc tctttttttc cccatctcat
     1081 tgctccaaga atttttttct tcttactcgc caaagtcagg gttccctctg cccgtcccgt
     1141 attaatattt ccacttttgg aactactggc cttttctttt taaaggaatt caagcaggat
     1201 acgtttttct gttgggcatt gactagattg tttgcaaaag tttcgcatca aaaacaacaa
     1261 caacaaaaaa ccaaacaact ctccttgatc tatactttga gaattgttga tttctttttt
     1321 ttattctgac ttttaaaaac aacttttttt tccacttttt taaaaaatgc actactgtgt
     1381 gctgagcgct tttctgatcc tgcatctggt cacggtcgcg ctcagcctgt ctacctgcag
     1441 cacactcgat atggaccagt tcatgcgcaa gaggatcgag gcgatccgcg ggcagatcct
     1501 gagcaagctg aagctcacca gtcccccaga agactatcct gagcccgagg aagtcccccc
     1561 ggaggtgatt tccatctaca acagcaccag ggacttgctc caggagaagg cgagccggag
     1621 ggcggccgcc tgcgagcgcg agaggagcga cgaagagtac tacgccaagg aggtttacaa
     1681 aatagacatg ccgcccttct tcccctccga aaatgccatc ccgcccactt tctacagacc
     1741 ctacttcaga attgttcgat ttgacgtctc agcaatggag aagaatgctt ccaatttggt
     1801 gaaagcagag ttcagagtct ttcgtttgca gaacccaaaa gccagagtgc ctgaacaacg
     1861 gattgagcta tatcagattc tcaagtccaa agatttaaca tctccaaccc agcgctacat
     1921 cgacagcaaa gttgtgaaaa caagagcaga aggcgaatgg ctctccttcg atgtaactga
     1981 tgctgttcat gaatggcttc accataaaga caggaacctg ggatttaaaa taagcttaca
     2041 ctgtccctgc tgcacttttg taccatctaa taattacatc atcccaaata aaagtgaaga
     2101 actagaagca agatttgcag gtattgatgg cacctccaca tataccagtg gtgatcagaa
     2161 aactataaag tccactagga aaaaaaacag tgggaagacc ccacatctcc tgctaatgtt
     2221 attgccctcc tacagacttg agtcacaaca gaccaaccgg cggaagaagc gtgctttgga
     2281 tgcggcctat tgctttagaa atgtgcagga taattgctgc ctacgtccac tttacattga
     2341 tttcaagagg gatctagggt ggaaatggat acacgaaccc aaagggtaca atgccaactt
     2401 ctgtgctgga gcatgcccgt atttatggag ttcagacact cagcacagca gggtcctgag
     2461 cttatataat accataaatc cagaagcatc tgcttctcct tgctgcgtgt cccaagattt
     2521 agaacctcta accattctct actacattgg caaaacaccc aagattgaac agctttctaa
     2581 tatgattgta aagtcttgca aatgcagcta aaattcttgg aaaagtggca agaccaaaat
     2641 gacaatgatg atgataatga tgatgacgac gacaacgatg atgcttgtaa caagaaaaca
     2701 taagagagcc ttggttcatc agtgttaaaa aatttttgaa aaggcggtac tagttcagac
     2761 actttggaag tttgtgttct gtttgttaaa actggcatct gacacaaaaa aagttgaagg
     2821 ccttattcta catttcacct actttgtaag tgagagagac aagaagcaaa ttttttttaa
     2881 agaaaaaaat aaacactgga agaatttatt agtgttaatt atgtgaacaa cgacaacaac
     2941 aacaacaaca acaaacagga aaatcccatt aagtggagtt gctgtacgta ccgttcctat
     3001 cccgcgcctc acttgatttt tctgtattgc tatgcaatag gcacccttcc cattcttact
     3061 cttagagtta acagtgagtt atttattgtg tgttactata taatgaacgt ttcattgccc
     3121 ttggaaaata aaacaggtgt ataaagtgga gaccaaatac tttgccagaa actcatggat
     3181 ggcttaagga acttgaactc aaacgagcca gaaaaaaaga ggtcatatta atgggatgaa
     3241 aacccaagtg agttattata tgaccgagaa agtctgcatt aagataaaga ccctgaaaac
     3301 acatgttatg tatcagctgc ctaaggaagc ttcttgtaag gtccaaaaac taaaaagact
     3361 gttaataaaa gaaactttca gtcagaataa gtctgtaagt tttttttttt ctttttaatt
     3421 gtaaatggtt ctttgtcagt ttagtaaacc agtgaaatgt tgaaatgttt tgacatgtac
     3481 tggtcaaact tcagacctta aaatattgct gtatagctat gctataggtt ttttcctttg
     3541 ttttggtata tgtaaccata cctatattat taaaatagat ggatatagaa gccagcataa
     3601 ttgaaaacac atctgcagat ctcttttgca aactattaaa tcaaaacatt aactacttta
     3661 tgtgtaatgt gtaaattttt accatatttt ttatattctg taataatgtc aactatgatt
     3721 tagattgact taaatttggg ctctttttaa tgatcactca caaatgtatg tttcttttag
     3781 ctggccagta cttttgagta aagcccctat agtttgactt gcactacaaa tgcatttttt
     3841 ttttaataac atttgcccta cttgtgcttt gtgtttcttt cattattatg acataagcta
     3901 cctgggtcca cttgtctttt cttttttttg tttcacagaa aagatgggtt cgagttcagt
     3961 ggtcttcatc ttccaagcat cattactaac caagtcagac gttaacaaat ttttatgtta
     4021 ggaaaaggag gaatgttata gatacataga aaattgaagt aaaatgtttt cattttagca
     4081 aggatttagg gttctaacta aaactcagaa tctttattga gttaagaaaa gtttctctac
     4141 cttggtttaa tcaatatttt tgtaaaatcc tattgttatt acaaagagga cacttcatag
     4201 gaaacatctt tttctttagt caggttttta atattcaggg ggaaattgaa agatatatat
     4261 tttagtcgat ttttcaaaag gggaaaaaag tccaggtcag cataagtcat tttgtgtatt
     4321 tcactgaagt tataaggttt ttataaatgt tctttgaagg ggaaaaggca caagccaatt
     4381 tttcctatga tcaaaaaatt ctttctttcc tctgagtgag agttatctat atctgaggct
     4441 aaagtttacc ttgctttaat aaataatttg ccacatcatt gcagaagagg tatcctcatg
     4501 ctggggttaa tagaatatgt cagtttatca cttgtcgctt atttagcttt aaaataaaaa
     4561 ttaataggca aagcaatgga atatttgcag tttcacctaa agagcagcat aaggaggcgg
     4621 gaatccaaag tgaagttgtt tgatatggtc tacttctttt ttggaatttc ctgaccatta
     4681 attaaagaat tggatttgca agtttgaaaa ctggaaaagc aagagatggg atgccataat
     4741 agtaaacagc ccttgtgttg gatgtaaccc aatcccagat ttgagtgtgt gttgattatt
     4801 tttttgtctt ccacttttct attatgtgta aatcactttt atttctgcag acattttcct
     4861 ctcagatagg atgacatttt gttttgtatt attttgtctt tcctcatgaa tgcactgata
     4921 atattttaaa tgctctattt taagatctct tgaatctgtt tttttttttt ttaatttggg
     4981 ggttctgtaa ggtctttatt tcccataagt aaatattgcc atgggagggg ggtggaggtg
     5041 gcaaggaagg ggtgaagtgc tagtatgcaa gtgggcagca attatttttg tgttaatcag
     5101 cagtacaatt tgatcgttgg catggttaaa aaatggaata taagattagc tgttttgtat
     5161 tttgatgacc aattacgctg tattttaaca cgatgtatgt ctgtttttgt ggtgctctag
     5221 tggtaaataa attatttcga tgatatgtgg atgtcttttt cctatcagta ccatcatcga
     5281 gtctagaaaa cacctgtgat gcaataagac tatctcaagc tggaaaagtc ataccacctt
     5341 tccgattgcc ctctgtgctt tctcccttaa ggacagtcac ttcagaagtc atgctttaaa
     5401 gcacaagagt caggccatat ccatcaagga tagaagaaat ccctgtgccg tctttttatt
     5461 cccttattta ttgctatttg gtaattgttt gagatttagt ttccatccag cttgactgcc
     5521 gaccagaaaa aatgcagaga gatgtttgca ccatgctttg gctttctggt tctatgttct
     5581 gccaacgcca gggccaaaag aactggtcta gacagtatcc cctgtagccc cataacttgg
     5641 atagttgctg agccagccag atataacaag agccacgtgc tttctggggt tggttgtttg
     5701 ggatcagcta cttgcctgtc agtttcactg gtaccactgc accacaaaca aaaaaaccca
     5761 ccctatttcc tccaattttt ttggctgcta cctacaagac cagactcctc aaacgagttg
     5821 ccaatctctt aataaatagg attaataaaa aaagtaattg tgactcaa
//
