LOCUS       NM_001004019            4306 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens fibulin 2 (FBLN2), transcript variant 1, mRNA.
ACCESSION   NM_001004019 XM_005264948
VERSION     NM_001004019.2
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 4306)
  AUTHORS   Liu,J., He,S., Ma,B., Li,X., Wang,Y. and Xiong,J.
  TITLE     TMT-based quantitative proteomic analysis revealed that FBLN2 and
            NPR3 are involved in the early osteogenic differentiation of
            mesenchymal stem cells (MSCs)
  JOURNAL   Aging (Albany NY) 15 (15), 7637-7654 (2023)
   PUBMED   37543430
  REMARK    GeneRIF: TMT-based quantitative proteomic analysis revealed that
            FBLN2 and NPR3 are involved in the early osteogenic differentiation
            of mesenchymal stem cells (MSCs).
REFERENCE   2  (bases 1 to 4306)
  AUTHORS   Hu,X., Liu,T., Li,L., Gan,H., Wang,T., Pang,P. and Mao,J.
  TITLE     Fibulin-2 Facilitates Malignant Progression of Hepatocellular
            Carcinoma
  JOURNAL   Turk J Gastroenterol 34 (6), 635-644 (2023)
   PUBMED   37162505
  REMARK    GeneRIF: Fibulin-2 Facilitates Malignant Progression of
            Hepatocellular Carcinoma.
REFERENCE   3  (bases 1 to 4306)
  AUTHORS   Zhang,Y., Zhang,W., Zhang,R. and Xia,Y.
  TITLE     Knockdown of FBLN2 suppresses TGF-beta1-induced MRC-5 cell
            migration and fibrosis by downregulating VTN
  JOURNAL   Tissue Cell 81, 102005 (2023)
   PUBMED   36608640
  REMARK    GeneRIF: Knockdown of FBLN2 suppresses TGF-beta1-induced MRC-5 cell
            migration and fibrosis by downregulating VTN.
REFERENCE   4  (bases 1 to 4306)
  AUTHORS   Vaes,N., Schonkeren,S.L., Rademakers,G., Holland,A.M., Koch,A.,
            Gijbels,M.J., Keulers,T.G., de Wit,M., Moonen,L., Van der
            Meer,J.R.M., van den Boezem,E., Wolfs,T.G.A.M., Threadgill,D.W.,
            Demmers,J., Fijneman,R.J.A., Jimenez,C.R., Vanden Berghe,P.,
            Smits,K.M., Rouschop,K.M.A., Boesmans,W., Hofstra,R.M.W. and
            Melotte,V.
  TITLE     Loss of enteric neuronal Ndrg4 promotes colorectal cancer via
            increased release of Nid1 and Fbln2
  JOURNAL   EMBO Rep 22 (6), e51913 (2021)
   PUBMED   33890711
  REMARK    GeneRIF: Loss of enteric neuronal Ndrg4 promotes colorectal cancer
            via increased release of Nid1 and Fbln2.
REFERENCE   5  (bases 1 to 4306)
  AUTHORS   Zhu,N., Swietlik,E.M., Welch,C.L., Pauciulo,M.W., Hagen,J.J.,
            Zhou,X., Guo,Y., Karten,J., Pandya,D., Tilly,T., Lutz,K.A.,
            Martin,J.M., Treacy,C.M., Rosenzweig,E.B., Krishnan,U.,
            Coleman,A.W., Gonzaga-Jauregui,C., Lawrie,A., Trembath,R.C.,
            Wilkins,M.R., Morrell,N.W., Shen,Y., Graf,S., Nichols,W.C. and
            Chung,W.K.
  CONSRTM   Regeneron Genetics Center; PAH Biobank Enrolling Centers'
            Investigators; NIHR BioResource for Translational Research - Rare
            Diseases; National Cohort Study of Idiopathic and Heritable PAH
  TITLE     Rare variant analysis of 4241 pulmonary arterial hypertension cases
            from an international consortium implicates FBLN2, PDGFD, and rare
            de novo variants in PAH
  JOURNAL   Genome Med 13 (1), 80 (2021)
   PUBMED   33971972
  REMARK    GeneRIF: Rare variant analysis of 4241 pulmonary arterial
            hypertension cases from an international consortium implicates
            FBLN2, PDGFD, and rare de novo variants in PAH.
            Erratum:[Genome Med. 2021 Jun 22;13(1):106. doi:
            10.1186/s13073-021-00915-w.. PMID: 34158098]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4306)
  AUTHORS   Reinhardt,D.P., Sasaki,T., Dzamba,B.J., Keene,D.R., Chu,M.L.,
            Gohring,W., Timpl,R. and Sakai,L.Y.
  TITLE     Fibrillin-1 and fibulin-2 interact and are colocalized in some
            tissues
  JOURNAL   J Biol Chem 271 (32), 19489-19496 (1996)
   PUBMED   8702639
REFERENCE   7  (bases 1 to 4306)
  AUTHORS   Miosge,N., Gotz,W., Sasaki,T., Chu,M.L., Timpl,R. and Herken,R.
  TITLE     The extracellular matrix proteins fibulin-1 and fibulin-2 in the
            early human embryo
  JOURNAL   Histochem J 28 (2), 109-116 (1996)
   PUBMED   8737292
REFERENCE   8  (bases 1 to 4306)
  AUTHORS   Sasaki,T., Gohring,W., Pan,T.C., Chu,M.L. and Timpl,R.
  TITLE     Binding of mouse and human fibulin-2 to extracellular matrix
            ligands
  JOURNAL   J Mol Biol 254 (5), 892-899 (1995)
   PUBMED   7500359
REFERENCE   9  (bases 1 to 4306)
  AUTHORS   Zhang,R.Z., Pan,T.C., Zhang,Z.Y., Mattei,M.G., Timpl,R. and
            Chu,M.L.
  TITLE     Fibulin-2 (FBLN2): human cDNA sequence, mRNA expression, and
            mapping of the gene on human and mouse chromosomes
  JOURNAL   Genomics 22 (2), 425-430 (1994)
   PUBMED   7806230
REFERENCE   10 (bases 1 to 4306)
  AUTHORS   Pan,T.C., Sasaki,T., Zhang,R.Z., Fassler,R., Timpl,R. and Chu,M.L.
  TITLE     Structure and expression of fibulin-2, a novel extracellular matrix
            protein with multiple EGF-like repeats and consensus motifs for
            calcium binding
  JOURNAL   J Cell Biol 123 (5), 1269-1277 (1993)
   PUBMED   8245130
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB959783.1, BC051690.1,
            AY130459.1 and AL050095.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001004019.1.
            
            Summary: This gene encodes an extracellular matrix protein, which
            belongs to the fibulin family. This protein binds various
            extracellular ligands and calcium. It may play a role during organ
            development, in particular, during the differentiation of heart,
            skeletal and neuronal structures. Alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents use of an alternate
            promoter and 5' UTR, compared to variant 3, and encodes the longer
            isoform (a). Both variants 1 and 3 encode the same isoform.
            
            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 :: SRR7346977.1519035.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000404922.8/ ENSP00000384169.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-440               CB959783.1         28-467
            441-2280            BC051690.1         404-2243
            2281-2421           AY130459.1         2225-2365
            2422-2770           BC051690.1         2244-2592
            2771-3604           AL050095.1         682-1515
            3605-4306           BC051690.1         3427-4128
FEATURES             Location/Qualifiers
     source          1..4306
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..4306
                     /gene="FBLN2"
                     /note="fibulin 2"
                     /db_xref="GeneID:2199"
                     /db_xref="HGNC:HGNC:3601"
                     /db_xref="MIM:135821"
     exon            1..84
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            85..1431
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..3821
                     /gene="FBLN2"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; FIBL-2"
                     /codon_start=1
                     /product="fibulin-2 isoform a precursor"
                     /protein_id="NP_001004019.1"
                     /db_xref="CCDS:CCDS46761.1"
                     /db_xref="GeneID:2199"
                     /db_xref="HGNC:HGNC:3601"
                     /db_xref="MIM:135821"
                     /translation="MVLLWEPAGAWLALGLALALGPSVAAAAPRQDCTGVECPPLENC
                     IEEALEPGACCATCVQQGCACEGYQYYDCLQGGFVRGRVPAGQSYFVDFGSTECSCPP
                     GGGKISCQFMLCPELPPNCIEAVVVADSCPQCGQVGCVHAGHKYAAGHTVHLPPCRAC
                     HCPDAGGELICYQLPGCHGNFSDAEEGDPERHYEDPYSYDQEVAEVEAATALGGEVQA
                     GAVQAGAGGPPAALGGGSQPLSTIQAPPWPAVLPRPTAAAALGPPAPVQAKARRVTED
                     SEEEEEEEEEREEMAVTEQLAAGGHRGLDGLPTTAPAGPSLPIQEERAEAGARAEAGA
                     RPEENLILDAQATSRSTGPEGVTHAPSLGKAALVPTQAVPGSPRDPVKPSPHNILSTS
                     LPDAAWIPPTREVPRKPQVLPHSHVEEDTDPNSVHSIPRSSPEGSTKDLIETCCAAGQ
                     QWAIDNDECLEIPESGTEDNVCRTAQRHCCVSYLQEKSCMAGVLGAKEGETCGAEDND
                     SCGISLYKQCCDCCGLGLRVRAEGQSCESNPNLGYPCNHVMLSCCEGEEPLIVPEVRR
                     PPEPAAAPRRVSEAEMAGREALSLGTEAELPNSLPGDDQDECLLLPGELCQHLCINTV
                     GSYHCACFPGFSLQDDGRTCRPEGHPPQPEAPQEPALKSEFSQVASNTIPLPLPQPNT
                     CKDNGPCKQVCSTVGGSAICSCFPGYAIMADGVSCEDQDECLMGAHDCSRRQFCVNTL
                     GSFYCVNHTVLCADGYILNAHRKCVDINECVTDLHTCSRGEHCVNTLGSFHCYKALTC
                     EPGYALKDGECEDVDECAMGTHTCQPGFLCQNTKGSFYCQARQRCMDGFLQDPEGNCV
                     DINECTSLSEPCRPGFSCINTVGSYTCQRNPLICARGYHASDDGTKCVDVNECETGVH
                     RCGEGQVCHNLPGSYRCDCKAGFQRDAFGRGCIDVNECWASPGRLCQHTCENTLGSYR
                     CSCASGFLLAADGKRCEDVNECEAQRCSQECANIYGSYQCYCRQGYQLAEDGHTCTDI
                     DECAQGAGILCTFRCLNVPGSYQCACPEQGYTMTANGRSCKDVDECALGTHNCSEAET
                     CHNIQGSFRCLRFECPPNYVQVSKTKCERTTCHDFLECQNSPARITHYQLNFQTGLLV
                     PAHIFRIGPAPAFTGDTIALNIIKGNEEGYFGTRRLNAYTGVVYLQRAVLEPRDFALD
                     VEMKLWRQGSVTTFLAKMHIFFTTFAL"
     exon            1432..1543
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..1673
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..1854
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1855..2064
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2065..2178
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2179..2280
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2281..2421
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2422..2556
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2557..2694
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2695..2838
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2839..2967
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2968..3093
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            3094..3210
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            3211..3339
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            3340..3463
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            3464..4306
                     /gene="FBLN2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4287..4292
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBLN2"
                     /note="hexamer: TATAAA"
     polyA_site      4306
                     /gene="FBLN2"
                     /note="major polyA site"
ORIGIN      
        1 gcacacagcc aggggccgcc cgggctctcg acgcgccgac ggccgggcgg acggacggac
       61 ggacgccgag cgcagtgccc cgcgggtctt acaggagagg ggaccgtcct gggctggcct
      121 ggaccatggt gctgctctgg gagcctgcag gagcctggct tgctctgggc ctggccctgg
      181 ccctgggccc cagcgtggcc gcagctgccc ctcggcagga ctgcacgggc gtggagtgcc
      241 cgccgctgga gaactgcatt gaggaggcgc tggagccggg tgcctgctgt gccacgtgtg
      301 tgcagcaggg ctgcgcctgc gagggctacc agtactatga ctgcctacag ggtggcttcg
      361 tgcgcggccg cgtgcccgcc ggtcagtcct attttgtgga cttcgggagc actgagtgct
      421 cctgcccacc aggcggcggc aagatcagct gccagttcat gctgtgcccg gagctgccgc
      481 ccaactgcat cgaggctgta gtggtggctg acagctgccc acagtgcggc caggtgggct
      541 gcgtccacgc gggccacaag tacgccgctg gccacactgt tcacctgccg ccctgccggg
      601 cctgccactg ccctgacgcc ggtggagagc tcatctgcta ccagctcccc ggttgccacg
      661 ggaacttctc agatgccgag gagggtgacc ccgagcgaca ctacgaagac ccctacagct
      721 atgaccagga ggtggccgag gtggaagcag caacagccct ggggggtgag gtccaggcgg
      781 gtgcagtcca ggcaggcgca gggggccccc cagctgctct gggaggtggg agtcagccac
      841 tgtccaccat ccaggcaccc ccctggccag ctgtcctccc caggcccaca gcggctgctg
      901 ccctgggtcc cccagcccca gtgcaggcca aagctaggag agtgaccgag gacagtgagg
      961 aggaagaaga ggaggaggag gagagagagg aaatggctgt cactgagcag ctggcagcag
     1021 gtggccacag ggggctggat gggctgccca ctacagcccc agctggaccc agtcttccta
     1081 tccaggagga gagggcagaa gctggggcaa gggcagaagc tggggcaagg cctgaagaga
     1141 acctcatcct ggatgcccaa gccacgtccc gcagcactgg gccggagggc gtgacgcatg
     1201 caccgagcct gggcaaggct gctctcgtcc caactcaggc cgtgcctggc tctcccaggg
     1261 acccagtcaa gcccagcccc cacaacatcc tgtccacatc actgcctgat gcagcctgga
     1321 tcccacccac ccgagaagtg cccaggaagc cgcaagttct gccccattcc cacgtggagg
     1381 aggacacaga ccccaactct gtccattcta tccccagaag tagccctgaa ggctccacca
     1441 aggacctgat cgagacttgc tgcgcagccg gacagcagtg ggccattgac aatgacgagt
     1501 gcctggagat ccctgagagt ggcactgagg acaacgtctg caggacagcc cagaggcact
     1561 gctgtgtctc ctacttgcag gagaagagct gcatggccgg cgtcctggga gccaaggagg
     1621 gtgagacctg tggggctgag gacaacgaca gctgcggcat ctccctgtac aagcaatgct
     1681 gtgactgctg tggcctgggc ctccgcgtgc gggccgaggg ccagtcgtgt gagtccaatc
     1741 ctaacctggg ctatccctgc aatcatgtca tgctctcctg ctgtgagggt gaagagcctc
     1801 tcatagtacc tgaggttcgc cgacctccag agcccgcagc tgcaccacgg agagtttcag
     1861 aggcagagat ggcgggccga gaggccctgt cactgggcac agaggccgag ctgccgaaca
     1921 gcctgccggg cgatgaccag gatgagtgcc ttctcctccc gggagagctg tgccagcacc
     1981 tttgcatcaa tactgtgggt tcttaccact gtgcctgctt tcctggcttc tcactgcagg
     2041 acgatggccg cacttgccgc ccagagggtc accctccaca gccggaagcc ccacaggagc
     2101 ctgcactgaa gtcagaattt tcccaggtgg cctctaacac catcccgctg ccactgccgc
     2161 agcccaatac ctgcaaagac aatggaccct gcaagcaggt gtgcagcact gttgggggct
     2221 cagccatatg ctcctgtttt cccggctatg ccatcatggc ggatggcgtg tcctgtgaag
     2281 accaagacga gtgcctgatg ggtgctcacg attgtagccg gcgacagttc tgtgtgaaca
     2341 ccctgggatc cttctactgt gtcaaccaca cagtgctctg tgccgatggc tatatcctca
     2401 atgcgcacag gaagtgcgtg gacatcaacg agtgtgtgac ggacctgcac acgtgcagcc
     2461 ggggcgagca ctgtgtgaac acactgggct ccttccactg ctacaaggca ctcacctgtg
     2521 agccaggcta tgccctcaag gatggcgagt gcgaagacgt ggatgagtgt gcgatgggca
     2581 cgcacacctg ccagccgggc ttcttgtgcc agaacaccaa gggctccttc tactgccagg
     2641 ccaggcagcg ctgcatggat ggcttcctgc aggatcctga aggcaactgt gtggacatca
     2701 acgagtgcac gtcactgtcc gagccatgtc ggccaggctt cagctgcatc aacacggtgg
     2761 gctcctacac atgccagagg aacccgctga tctgcgcgcg cggctaccac gccagcgatg
     2821 atgggaccaa gtgtgtggac gtgaatgagt gtgagacagg tgtgcaccgc tgcggtgagg
     2881 gccaagtgtg ccacaacctc cctggctcct accgctgtga ctgcaaagcc ggctttcagc
     2941 gggatgcctt tggccggggc tgcatcgacg tgaatgagtg ctgggcctcg ccaggccgcc
     3001 tgtgccagca cacgtgtgag aacacactcg gctcctaccg ctgttcctgc gcctccgggt
     3061 tcctgctagc agcggacggc aagcgctgtg aagacgtgaa tgagtgtgag gcccagcgct
     3121 gcagccagga gtgtgccaac atctatggct cctaccagtg ctactgccgc cagggctacc
     3181 agctggctga ggatgggcac acctgcacag acatcgacga gtgtgctcaa ggcgccggca
     3241 tcctctgcac cttccgctgt ctcaacgtgc cagggagcta ccagtgtgca tgccctgagc
     3301 agggctacac catgacggcc aacgggaggt cctgcaagga cgtggatgag tgtgcactgg
     3361 gtacccacaa ctgttccgag gctgagacct gccacaacat ccagggtagc ttccgctgcc
     3421 tgcgcttcga gtgtcctccc aactatgtcc aagtctccaa aacgaagtgc gagcgcacca
     3481 cgtgccatga cttcctggag tgccagaact cgccagcgcg catcacgcac taccagctca
     3541 acttccagac gggcctcctg gtgcctgcgc atatcttccg cattggcccc gcgccagcct
     3601 tcacggggga caccatcgcc ctgaacatca tcaagggcaa tgaggagggc tactttggca
     3661 cgcgcaggct caatgcctac acgggtgtgg tctacctgca gcgggccgtg ctggagcccc
     3721 gggactttgc cctggacgtg gagatgaagc tctggaggca gggctccgtc accaccttcc
     3781 tggccaagat gcacatcttc ttcaccacct ttgccctgtg aggtgccagc acgggccacc
     3841 tgcgggtgtg gcgcagccca gggctcacac tgcgtgggag ggactgggtc actattgtgg
     3901 tttttactat aactttgtaa attaacttaa ttttgctgac ttgactcctg tggcttctgg
     3961 acccctcctc tgccccgcag gaggaagttc cacggcaggt ggtgcgttcc cacgcaggca
     4021 ccaagtggaa gcttgcacgg tgggccacgg ccgtggcggg tgccctgtgg gtgaggctgg
     4081 gtgatgacct gaggaccaga gacacgcgac catgttgggg ctcttggact cctctggatg
     4141 acccgtcccc aaagttgaca ttccatttca tgttccactg tgattaattc ttttcttttt
     4201 taaaaaatca ttttaaagtt ttttgtttaa ctataaagta gtacatgtac attatataaa
     4261 aaaaagttca actagtatga aagggttata aagtaacaga ggaaaa
//
