LOCUS       NM_001407126            4713 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens transforming growth factor beta receptor 2 (TGFBR2),
            transcript variant 3, mRNA.
ACCESSION   NM_001407126
VERSION     NM_001407126.1
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 4713)
  AUTHORS   Huang,W., Zhang,Z., Li,X., Zheng,Q., Wu,C., Liu,L., Chen,Y.,
            Zhang,J. and Jiang,X.
  TITLE     CD9 promotes TbetaR2-TbetaR1 association driving the transition of
            human dermal fibroblasts to myofibroblast under hypoxia
  JOURNAL   Mol Med 30 (1), 162 (2024)
   PUBMED   39333849
  REMARK    GeneRIF: CD9 promotes TbetaR2-TbetaR1 association driving the
            transition of human dermal fibroblasts to myofibroblast under
            hypoxia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4713)
  AUTHORS   Lei,T., Lin,Y., Lai,X., Zhang,Y., Ma,Y., Wang,X., Liu,W., Tang,Q.,
            Yang,T., Feng,W. and Song,W.
  TITLE     ITGB5 facilitates gastric cancer metastasis by promoting TGFBR2
            endosomal recycling
  JOURNAL   Cancer Lett 592, 216953 (2024)
   PUBMED   38729557
  REMARK    GeneRIF: ITGB5 facilitates gastric cancer metastasis by promoting
            TGFBR2 endosomal recycling.
REFERENCE   3  (bases 1 to 4713)
  AUTHORS   Jin,Z., Huang,Z., Wu,C., Zhang,F., Gao,Y., Guo,S., Tao,X., Lu,S.,
            Zhang,J., Huang,J., Zhai,Y., Shi,R., Ye,P. and Wu,J.
  TITLE     Molecular insights into gastric cancer: The impact of TGFBR2 and
            hsa-mir-107 revealed by microarray sequencing and bioinformatics
  JOURNAL   Comput Biol Med 172, 108221 (2024)
   PUBMED   38452473
  REMARK    GeneRIF: Molecular insights into gastric cancer: The impact of
            TGFBR2 and hsa-mir-107 revealed by microarray sequencing and
            bioinformatics.
REFERENCE   4  (bases 1 to 4713)
  AUTHORS   Shevchenko,A.V., Prokofiev,V.F., Konenkov,V.I., Chernykh,V.V. and
            Trunov,A.N.
  TITLE     Polymorphism of Transforming Growth Factor TGFB and Its Receptors
            TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia Patients with
            Open-Angle Glaucoma
  JOURNAL   Bull Exp Biol Med 176 (5), 603-606 (2024)
   PUBMED   38730107
  REMARK    GeneRIF: Polymorphism of Transforming Growth Factor TGFB and Its
            Receptors TGFBRI, TGFBRII, TGFBRIIII Genes in Western Siberia
            Patients with Open-Angle Glaucoma.
REFERENCE   5  (bases 1 to 4713)
  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 4713)
  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 4713)
  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 4713)
  AUTHORS   Cheifetz,S., Bellon,T., Cales,C., Vera,S., Bernabeu,C., Massague,J.
            and Letarte,M.
  TITLE     Endoglin is a component of the transforming growth factor-beta
            receptor system in human endothelial cells
  JOURNAL   J Biol Chem 267 (27), 19027-19030 (1992)
   PUBMED   1326540
REFERENCE   9  (bases 1 to 4713)
  AUTHORS   Massague,J.
  TITLE     Receptors for the TGF-beta family
  JOURNAL   Cell 69 (7), 1067-1070 (1992)
   PUBMED   1319842
  REMARK    Review article
REFERENCE   10 (bases 1 to 4713)
  AUTHORS   Lin,H.Y., Wang,X.F., Ng-Eaton,E., Weinberg,R.A. and Lodish,H.F.
  TITLE     Expression cloning of the TGF-beta type II receptor, a functional
            transmembrane serine/threonine kinase
  JOURNAL   Cell 68 (4), 775-785 (1992)
   PUBMED   1310899
  REMARK    Erratum:[Cell. 1992 Sep 18;70(6):1069.. PMID: 1525823]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096921.2.
            
            Summary: The protein encoded by this gene is a transmembrane
            protein that has a protein kinase domain, forms a heterodimeric
            complex with TGF-beta receptor type-1, and binds TGF-beta. This
            receptor/ligand complex phosphorylates proteins, which then enter
            the nucleus and regulate the transcription of genes related to cell
            proliferation, cell cycle arrest, wound healing, immunosuppression,
            and tumorigenesis. Mutations in this gene have been associated with
            Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the
            development of various types of tumors. Alternatively spliced
            transcript variants encoding different isoforms have been
            characterized. [provided by RefSeq, Aug 2017].
            
            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 :: SRR14038196.1654564.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-377               AC096921.2         81222-81598
            378-452             AC096921.2         97820-97894
            453-621             AC096921.2         119368-119536
            622-812             AC096921.2         124891-125081
            813-920             AC096921.2         136153-136260
            921-1720            AC096921.2         146259-147058
            1721-1862           AC096921.2         148726-148867
            1863-1990           AC096921.2         163005-163132
            1991-4713           AC096921.2         166041-168763
FEATURES             Location/Qualifiers
     source          1..4713
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.1"
     gene            1..4713
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /note="transforming growth factor beta receptor 2"
                     /db_xref="GeneID:7048"
                     /db_xref="HGNC:HGNC:11773"
                     /db_xref="MIM:190182"
     exon            1..377
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             284..2170
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /EC_number="2.7.11.30"
                     /note="isoform C precursor is encoded by transcript
                     variant 3; TGF-beta type II receptor; TGF-beta receptor
                     type-2; transforming growth factor beta receptor type IIC;
                     TGF-beta receptor type IIB; transforming growth factor,
                     beta receptor II alpha; transforming growth factor, beta
                     receptor II beta; transforming growth factor, beta
                     receptor II gamma; transforming growth factor, beta
                     receptor II delta; transforming growth factor, beta
                     receptor II epsilon; transforming growth factor beta
                     receptor II; transforming growth factor, beta receptor II
                     (70/80kDa)"
                     /codon_start=1
                     /product="TGF-beta receptor type-2 isoform C precursor"
                     /protein_id="NP_001394055.1"
                     /db_xref="GeneID:7048"
                     /db_xref="HGNC:HGNC:11773"
                     /db_xref="MIM:190182"
                     /translation="MGRGLLRGLWPLHIVLWTRIASTIPPHVQKSDVEMEAQKDEIIC
                     PSCNRTAHPLRHINNDMIVTDNNGAVKFPQLCKFCDVRFSTCDNQKSCMSNCSITSIC
                     EKPQEVCVAVWRKNDENITLETVCHDPKLPYHDFILEDAASPKCIMKEKKKPGETFFM
                     CSCSSDECNDNIIFSEGRCKIRHIGSNNRLQRSTCQNTGWESAHVMKTPGFREYNTSN
                     PDLLLVIFQVTGISLLPPLGVAISVIIIFYCYRVNRQQKLSSTWETGKTRKLMEFSEH
                     CAIILEDDRSDISSTCANNINHNTELLPIELDTLVGKGRFAEVYKAKLKQNTSEQFET
                     VAVKIFPYEEYASWKTEKDIFSDINLKHENILQFLTAEERKTELGKQYWLITAFHAKG
                     NLQEYLTRHVISWEDLRKLGSSLARGIAHLHSDHTPCGRPKMPIVHRDLKSSNILVKN
                     DLTCCLCDFGLSLRLDPTLSVDDLANSGQVGTARYMAPEVLESRMNLENVESFKQTDV
                     YSMALVLWEMTSRCNAVGEVKDYEPPFGSKVREHPCVESMKDNVLRDRGRPEIPSFWL
                     NHQGIQMVCETLTECWDHDPEARLTAQCVAERFSELEHLDRLSGRSCSEEKIPEDGSL
                     NTTK"
     exon            378..452
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            453..621
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            622..812
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            813..920
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1720
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1721..1862
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1863..1990
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1991..4713
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4634..4639
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /note="hexamer: AATAAA"
     polyA_site      4677
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
                     /note="major polyA site"
     polyA_site      4713
                     /gene="TGFBR2"
                     /gene_synonym="AAT3; FAA3; LDS1B; LDS2; LDS2B; MFS2; RIIC;
                     TAAD2; tbetaR-II; TBR-ii; TBRII; TGFbeta-RII; TGFR-2"
ORIGIN      
        1 actcgcgcgc acggagcgac gacacccccg cgcgtgcacc cgctcgggac aggagccgga
       61 ctcctgtgca gcttccctcg gccgccgggg gcctccccgc gcctcgccgg cctccaggcc
      121 ccctcctggc tggcgagcgg gcgccacatc tggcccgcac atctgcgctg ccggcccggc
      181 gcggggtccg gagagggcgc ggcgcggagg cgcagccagg ggtccgggaa ggcgccgtcc
      241 gctgcgctgg gggctcggtc tatgacgagc agcggggtct gccatgggtc gggggctgct
      301 caggggcctg tggccgctgc acatcgtcct gtggacgcgt atcgccagca cgatcccacc
      361 gcacgttcag aagtcggatg tggaaatgga ggcccagaaa gatgaaatca tctgccccag
      421 ctgtaatagg actgcccatc cactgagaca tattaataac gacatgatag tcactgacaa
      481 caacggtgca gtcaagtttc cacaactgtg taaattttgt gatgtgagat tttccacctg
      541 tgacaaccag aaatcctgca tgagcaactg cagcatcacc tccatctgtg agaagccaca
      601 ggaagtctgt gtggctgtat ggagaaagaa tgacgagaac ataacactag agacagtttg
      661 ccatgacccc aagctcccct accatgactt tattctggaa gatgctgctt ctccaaagtg
      721 cattatgaag gaaaaaaaaa agcctggtga gactttcttc atgtgttcct gtagctctga
      781 tgagtgcaat gacaacatca tcttctcaga aggtagatgt aaaatcagac atataggttc
      841 aaacaatcga ttgcaaagga gcacttgtca aaacactggc tgggaatctg ctcatgtgat
      901 gaagacccca gggtttagag aatataacac cagcaatcct gacttgttgc tagtcatatt
      961 tcaagtgaca ggcatcagcc tcctgccacc actgggagtt gccatatctg tcatcatcat
     1021 cttctactgc taccgcgtta accggcagca gaagctgagt tcaacctggg aaaccggcaa
     1081 gacgcggaag ctcatggagt tcagcgagca ctgtgccatc atcctggaag atgaccgctc
     1141 tgacatcagc tccacgtgtg ccaacaacat caaccacaac acagagctgc tgcccattga
     1201 gctggacacc ctggtgggga aaggtcgctt tgctgaggtc tataaggcca agctgaagca
     1261 gaacacttca gagcagtttg agacagtggc agtcaagatc tttccctatg aggagtatgc
     1321 ctcttggaag acagagaagg acatcttctc agacatcaat ctgaagcatg agaacatact
     1381 ccagttcctg acggctgagg agcggaagac ggagttgggg aaacaatact ggctgatcac
     1441 cgccttccac gccaagggca acctacagga gtacctgacg cggcatgtca tcagctggga
     1501 ggacctgcgc aagctgggca gctccctcgc ccgggggatt gctcacctcc acagtgatca
     1561 cactccatgt gggaggccca agatgcccat cgtgcacagg gacctcaaga gctccaatat
     1621 cctcgtgaag aacgacctaa cctgctgcct gtgtgacttt gggctttccc tgcgtctgga
     1681 ccctactctg tctgtggatg acctggctaa cagtgggcag gtgggaactg caagatacat
     1741 ggctccagaa gtcctagaat ccaggatgaa tttggagaat gttgagtcct tcaagcagac
     1801 cgatgtctac tccatggctc tggtgctctg ggaaatgaca tctcgctgta atgcagtggg
     1861 agaagtaaaa gattatgagc ctccatttgg ttccaaggtg cgggagcacc cctgtgtcga
     1921 aagcatgaag gacaacgtgt tgagagatcg agggcgacca gaaattccca gcttctggct
     1981 caaccaccag ggcatccaga tggtgtgtga gacgttgact gagtgctggg accacgaccc
     2041 agaggcccgt ctcacagccc agtgtgtggc agaacgcttc agtgagctgg agcatctgga
     2101 caggctctcg gggaggagct gctcggagga gaagattcct gaagacggct ccctaaacac
     2161 taccaaatag ctcttctggg gcaggctggg ccatgtccaa agaggctgcc cctctcacca
     2221 aagaacagag gcagcaggaa gctgcccctg aactgatgct tcctggaaaa ccaagggggt
     2281 cactcccctc cctgtaagct gtggggataa gcagaaacaa cagcagcagg gagtgggtga
     2341 catagagcat tctatgcctt tgacattgtc ataggataag ctgtgttagc acttcctcag
     2401 gaaatgagat tgatttttac aatagccaat aacatttgca ctttattaat gcctgtatat
     2461 aaatatgaat agctatgttt tatatatata tatatatatc tatatatgtc tatagctcta
     2521 tatatatagc cataccttga aaagagacaa ggaaaaacat caaatattcc caggaaattg
     2581 gttttattgg agaactccag aaccaagcag agaaggaagg gacccatgac agcattagca
     2641 tttgacaatc acacatgcag tggttctctg actgtaaaac agtgaacttt gcatgaggaa
     2701 agaggctcca tgtctcacag ccagctatga ccacattgca cttgcttttg caaaataatc
     2761 attccctgcc tagcacttct cttctggcca tggaactaag tacagtggca ctgtttgagg
     2821 accagtgttc ccggggttcc tgtgtgccct tatttctcct ggacttttca tttaagctcc
     2881 aagccccaaa tctggggggc tagtttagaa actctccctc aacctagttt agaaactcta
     2941 ccccatcttt aataccttga atgttttgaa ccccactttt taccttcatg ggttgcagaa
     3001 aaatcagaac agatgtcccc atccatgcga ttgccccacc atctactaat gaaaaattgt
     3061 tctttttttc atctttcccc tgcacttatg ttactattct ctgctcccag ccttcatcct
     3121 tttctaaaaa ggagcaaatt ctcactctag gctttatcgt gtttactttt tcattacact
     3181 tgacttgatt ttctagtttt ctatacaaac accaatgggt tccatctttc tgggctcctg
     3241 attgctcaag cacagtttgg cctgatgaag aggatttcaa ctacacaata ctatcattgt
     3301 caggactatg acctcaggca ctctaaacat atgttttgtt tggtcagcac agcgtttcaa
     3361 aaagtgaagc cactttataa atatttggag attttgcagg aaaatctgga tccccaggta
     3421 aggatagcag atggttttca gttatctcca gtccacgttc acaaaatgtg aaggtgtgga
     3481 gacacttaca aagctgcctc acttctcact gtaaacatta gctctttcca ctgcctacct
     3541 ggaccccagt ctaggaatta aatctgcacc taaccaaggt cccttgtaag aaatgtccat
     3601 tcaagcagtc attctctggg tatataatat gattttgact accttatctg gtgttaagat
     3661 ttgaagttgg ccttttattg gactaaaggg gaactccttt aagggtctca gttagcccaa
     3721 gtttcttttg cttatatgtt aatagtttta ccctctgcat tggagagagg agtgctttac
     3781 tccaagaagc tttcctcatg gttaccgttc tctccatcat gccagccttc tcaacctttg
     3841 cagaaattac tagagaggat ttgaatgtgg gacacaaagg tcccatttgc agttagaaaa
     3901 tttgtgtcca caaggacaag aacaaagtat gagctttaaa actccatagg aaacttgtta
     3961 atcaacaaag aagtgttaat gctgcaagta atctcttttt taaaactttt tgaagctact
     4021 tattttcagc caaataggaa tattagagag ggactggtag tgagaatatc agctctgttt
     4081 ggatggtgga aggtctcatt ttattgagat ttttaagata catgcaaagg tttggaaata
     4141 gaacctctag gcaccctcct cagtgtgggt gggctgagag ttaaagacag tgtggctgca
     4201 gtagcataga ggcgcctaga aattccactt gcaccgtagg gcatgctgat accatcccaa
     4261 tagctgttgc ccattgacct ctagtggtga gtttctagaa tactggtcca ttcatgagat
     4321 attcaagatt caagagtatt ctcacttctg ggttatcagc ataaactgga atgtagtgtc
     4381 agaggatact gtggcttgtt ttgtttatgt ttttttttct tattcaagaa aaaagaccaa
     4441 ggaataacat tctgtagttc ctaaaaatac tgactttttt cactactata cataaaggga
     4501 aagttttatt cttttatgga acacttcagc tgtactcatg tattaaaata ggaatgtgaa
     4561 tgctatatac tctttttata tcaaaagtct caagcactta tttttattct atgcattgtt
     4621 tgtcttttac ataaataaaa tgtttattag attgaataaa gcaaaatact caggtgagca
     4681 tcctgcctcc tgttcccatt cctagtagct aaa
//
