LOCUS       NM_003242               4530 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens transforming growth factor beta receptor 2 (TGFBR2),
            transcript variant 2, mRNA.
ACCESSION   NM_003242
VERSION     NM_003242.6
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 4530)
  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 4530)
  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 4530)
  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 4530)
  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 4530)
  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 4530)
  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 4530)
  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 4530)
  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 4530)
  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 4530)
  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 BC040499.1, M85079.1 and
            AC096921.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_003242.5.
            
            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 :: SRR1803611.77337.1,
                                           SRR1803611.165239.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295754.10/ ENSP00000295754.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1285              BC040499.1         101-1385
            1286-1598           M85079.1           1338-1650
            1599-2028           BC040499.1         1699-2128
            2029-4530           AC096921.2         166262-168763
FEATURES             Location/Qualifiers
     source          1..4530
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.1"
     gene            1..4530
                     /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..1987
                     /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 B precursor is encoded by transcript
                     variant 2; 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 B precursor"
                     /protein_id="NP_003233.4"
                     /db_xref="CCDS:CCDS2648.1"
                     /db_xref="GeneID:7048"
                     /db_xref="HGNC:HGNC:11773"
                     /db_xref="MIM:190182"
                     /translation="MGRGLLRGLWPLHIVLWTRIASTIPPHVQKSVNNDMIVTDNNGA
                     VKFPQLCKFCDVRFSTCDNQKSCMSNCSITSICEKPQEVCVAVWRKNDENITLETVCH
                     DPKLPYHDFILEDAASPKCIMKEKKKPGETFFMCSCSSDECNDNIIFSEEYNTSNPDL
                     LLVIFQVTGISLLPPLGVAISVIIIFYCYRVNRQQKLSSTWETGKTRKLMEFSEHCAI
                     ILEDDRSDISSTCANNINHNTELLPIELDTLVGKGRFAEVYKAKLKQNTSEQFETVAV
                     KIFPYEEYASWKTEKDIFSDINLKHENILQFLTAEERKTELGKQYWLITAFHAKGNLQ
                     EYLTRHVISWEDLRKLGSSLARGIAHLHSDHTPCGRPKMPIVHRDLKSSNILVKNDLT
                     CCLCDFGLSLRLDPTLSVDDLANSGQVGTARYMAPEVLESRMNLENVESFKQTDVYSM
                     ALVLWEMTSRCNAVGEVKDYEPPFGSKVREHPCVESMKDNVLRDRGRPEIPSFWLNHQ
                     GIQMVCETLTECWDHDPEARLTAQCVAERFSELEHLDRLSGRSCSEEKIPEDGSLNTT
                     K"
     exon            378..546
                     /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            547..737
                     /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            738..1537
                     /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            1538..1679
                     /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            1680..1807
                     /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            1808..4530
                     /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      4451..4456
                     /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      4494
                     /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      4530
                     /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 aagtcggtta ataacgacat gatagtcact gacaacaacg gtgcagtcaa
      421 gtttccacaa ctgtgtaaat tttgtgatgt gagattttcc acctgtgaca accagaaatc
      481 ctgcatgagc aactgcagca tcacctccat ctgtgagaag ccacaggaag tctgtgtggc
      541 tgtatggaga aagaatgacg agaacataac actagagaca gtttgccatg accccaagct
      601 cccctaccat gactttattc tggaagatgc tgcttctcca aagtgcatta tgaaggaaaa
      661 aaaaaagcct ggtgagactt tcttcatgtg ttcctgtagc tctgatgagt gcaatgacaa
      721 catcatcttc tcagaagaat ataacaccag caatcctgac ttgttgctag tcatatttca
      781 agtgacaggc atcagcctcc tgccaccact gggagttgcc atatctgtca tcatcatctt
      841 ctactgctac cgcgttaacc ggcagcagaa gctgagttca acctgggaaa ccggcaagac
      901 gcggaagctc atggagttca gcgagcactg tgccatcatc ctggaagatg accgctctga
      961 catcagctcc acgtgtgcca acaacatcaa ccacaacaca gagctgctgc ccattgagct
     1021 ggacaccctg gtggggaaag gtcgctttgc tgaggtctat aaggccaagc tgaagcagaa
     1081 cacttcagag cagtttgaga cagtggcagt caagatcttt ccctatgagg agtatgcctc
     1141 ttggaagaca gagaaggaca tcttctcaga catcaatctg aagcatgaga acatactcca
     1201 gttcctgacg gctgaggagc ggaagacgga gttggggaaa caatactggc tgatcaccgc
     1261 cttccacgcc aagggcaacc tacaggagta cctgacgcgg catgtcatca gctgggagga
     1321 cctgcgcaag ctgggcagct ccctcgcccg ggggattgct cacctccaca gtgatcacac
     1381 tccatgtggg aggcccaaga tgcccatcgt gcacagggac ctcaagagct ccaatatcct
     1441 cgtgaagaac gacctaacct gctgcctgtg tgactttggg ctttccctgc gtctggaccc
     1501 tactctgtct gtggatgacc tggctaacag tgggcaggtg ggaactgcaa gatacatggc
     1561 tccagaagtc ctagaatcca ggatgaattt ggagaatgtt gagtccttca agcagaccga
     1621 tgtctactcc atggctctgg tgctctggga aatgacatct cgctgtaatg cagtgggaga
     1681 agtaaaagat tatgagcctc catttggttc caaggtgcgg gagcacccct gtgtcgaaag
     1741 catgaaggac aacgtgttga gagatcgagg gcgaccagaa attcccagct tctggctcaa
     1801 ccaccagggc atccagatgg tgtgtgagac gttgactgag tgctgggacc acgacccaga
     1861 ggcccgtctc acagcccagt gtgtggcaga acgcttcagt gagctggagc atctggacag
     1921 gctctcgggg aggagctgct cggaggagaa gattcctgaa gacggctccc taaacactac
     1981 caaatagctc ttctggggca ggctgggcca tgtccaaaga ggctgcccct ctcaccaaag
     2041 aacagaggca gcaggaagct gcccctgaac tgatgcttcc tggaaaacca agggggtcac
     2101 tcccctccct gtaagctgtg gggataagca gaaacaacag cagcagggag tgggtgacat
     2161 agagcattct atgcctttga cattgtcata ggataagctg tgttagcact tcctcaggaa
     2221 atgagattga tttttacaat agccaataac atttgcactt tattaatgcc tgtatataaa
     2281 tatgaatagc tatgttttat atatatatat atatatctat atatgtctat agctctatat
     2341 atatagccat accttgaaaa gagacaagga aaaacatcaa atattcccag gaaattggtt
     2401 ttattggaga actccagaac caagcagaga aggaagggac ccatgacagc attagcattt
     2461 gacaatcaca catgcagtgg ttctctgact gtaaaacagt gaactttgca tgaggaaaga
     2521 ggctccatgt ctcacagcca gctatgacca cattgcactt gcttttgcaa aataatcatt
     2581 ccctgcctag cacttctctt ctggccatgg aactaagtac agtggcactg tttgaggacc
     2641 agtgttcccg gggttcctgt gtgcccttat ttctcctgga cttttcattt aagctccaag
     2701 ccccaaatct ggggggctag tttagaaact ctccctcaac ctagtttaga aactctaccc
     2761 catctttaat accttgaatg ttttgaaccc cactttttac cttcatgggt tgcagaaaaa
     2821 tcagaacaga tgtccccatc catgcgattg ccccaccatc tactaatgaa aaattgttct
     2881 ttttttcatc tttcccctgc acttatgtta ctattctctg ctcccagcct tcatcctttt
     2941 ctaaaaagga gcaaattctc actctaggct ttatcgtgtt tactttttca ttacacttga
     3001 cttgattttc tagttttcta tacaaacacc aatgggttcc atctttctgg gctcctgatt
     3061 gctcaagcac agtttggcct gatgaagagg atttcaacta cacaatacta tcattgtcag
     3121 gactatgacc tcaggcactc taaacatatg ttttgtttgg tcagcacagc gtttcaaaaa
     3181 gtgaagccac tttataaata tttggagatt ttgcaggaaa atctggatcc ccaggtaagg
     3241 atagcagatg gttttcagtt atctccagtc cacgttcaca aaatgtgaag gtgtggagac
     3301 acttacaaag ctgcctcact tctcactgta aacattagct ctttccactg cctacctgga
     3361 ccccagtcta ggaattaaat ctgcacctaa ccaaggtccc ttgtaagaaa tgtccattca
     3421 agcagtcatt ctctgggtat ataatatgat tttgactacc ttatctggtg ttaagatttg
     3481 aagttggcct tttattggac taaaggggaa ctcctttaag ggtctcagtt agcccaagtt
     3541 tcttttgctt atatgttaat agttttaccc tctgcattgg agagaggagt gctttactcc
     3601 aagaagcttt cctcatggtt accgttctct ccatcatgcc agccttctca acctttgcag
     3661 aaattactag agaggatttg aatgtgggac acaaaggtcc catttgcagt tagaaaattt
     3721 gtgtccacaa ggacaagaac aaagtatgag ctttaaaact ccataggaaa cttgttaatc
     3781 aacaaagaag tgttaatgct gcaagtaatc tcttttttaa aactttttga agctacttat
     3841 tttcagccaa ataggaatat tagagaggga ctggtagtga gaatatcagc tctgtttgga
     3901 tggtggaagg tctcatttta ttgagatttt taagatacat gcaaaggttt ggaaatagaa
     3961 cctctaggca ccctcctcag tgtgggtggg ctgagagtta aagacagtgt ggctgcagta
     4021 gcatagaggc gcctagaaat tccacttgca ccgtagggca tgctgatacc atcccaatag
     4081 ctgttgccca ttgacctcta gtggtgagtt tctagaatac tggtccattc atgagatatt
     4141 caagattcaa gagtattctc acttctgggt tatcagcata aactggaatg tagtgtcaga
     4201 ggatactgtg gcttgttttg tttatgtttt tttttcttat tcaagaaaaa agaccaagga
     4261 ataacattct gtagttccta aaaatactga cttttttcac tactatacat aaagggaaag
     4321 ttttattctt ttatggaaca cttcagctgt actcatgtat taaaatagga atgtgaatgc
     4381 tatatactct ttttatatca aaagtctcaa gcacttattt ttattctatg cattgtttgt
     4441 cttttacata aataaaatgt ttattagatt gaataaagca aaatactcag gtgagcatcc
     4501 tgcctcctgt tcccattcct agtagctaaa
//
