LOCUS       NM_002381               2557 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens matrilin 3 (MATN3), mRNA.
ACCESSION   NM_002381
VERSION     NM_002381.5
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 2557)
  AUTHORS   Zhu,W., Fu,M., Li,Q., Chen,X., Liu,Y., Li,X., Luo,N., Tang,W.,
            Zhang,Q., Yang,F., Chen,Z., Zhang,Y., Peng,B., Zhang,Q., Zhang,Y.,
            Peng,X. and Hu,G.
  TITLE     Amino acid metabolism-related genes as potential biomarkers and the
            role of MATN3 in stomach adenocarcinoma: A bioinformatics,
            mendelian randomization and experimental validation study
  JOURNAL   Int Immunopharmacol 143 (Pt 1), 113253 (2024)
   PUBMED   39353384
  REMARK    GeneRIF: Amino acid metabolism-related genes as potential
            biomarkers and the role of MATN3 in stomach adenocarcinoma: A
            bioinformatics, mendelian randomization and experimental validation
            study.
REFERENCE   2  (bases 1 to 2557)
  AUTHORS   Li,J., Yu,D., Chen,S., Xie,B. and Wang,H.
  TITLE     [Relationship Between the Expression of Human Matricellular Protein
            3 and the Pathological Features, Drug Resistance, and Prognosis of
            Gastric Cancer Based on Immunohistochemical Method]
  JOURNAL   Sichuan Da Xue Xue Bao Yi Xue Ban 55 (4), 893-901 (2024)
   PUBMED   39170027
  REMARK    GeneRIF: [Relationship Between the Expression of Human
            Matricellular Protein 3 and the Pathological Features, Drug
            Resistance, and Prognosis of Gastric Cancer Based on
            Immunohistochemical Method].
REFERENCE   3  (bases 1 to 2557)
  AUTHORS   Huang,Y., Xu,X., Lu,Y., Sun,Q., Zhang,L., Shao,J., Chen,D.,
            Chang,Y., Sun,X., Zhuo,W. and Zhou,T.
  TITLE     The phase separation of extracellular matrix protein matrilin-3
            from cancer-associated fibroblasts contributes to gastric cancer
            invasion
  JOURNAL   FASEB J 38 (2), e23406 (2024)
   PUBMED   38193601
  REMARK    GeneRIF: The phase separation of extracellular matrix protein
            matrilin-3 from cancer-associated fibroblasts contributes to
            gastric cancer invasion.
REFERENCE   4  (bases 1 to 2557)
  AUTHORS   Dennis,E.P., Watson,R.N., McPate,F. and Briggs,M.D.
  TITLE     Curcumin Reduces Pathological Endoplasmic Reticulum Stress through
            Increasing Proteolysis of Mutant Matrilin-3
  JOURNAL   Int J Mol Sci 24 (2), 1496 (2023)
   PUBMED   36675026
  REMARK    GeneRIF: Curcumin Reduces Pathological Endoplasmic Reticulum Stress
            through Increasing Proteolysis of Mutant Matrilin-3.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2557)
  AUTHORS   Wang,P., Xiao,W.S., Li,Y.H., Wu,X.P., Zhu,H.B. and Tan,Y.R.
  TITLE     Identification of MATN3 as a Novel Prognostic Biomarker for Gastric
            Cancer through Comprehensive TCGA and GEO Data Mining
  JOURNAL   Dis Markers 2021, 1769635 (2021)
   PUBMED   34900024
  REMARK    GeneRIF: Identification of MATN3 as a Novel Prognostic Biomarker
            for Gastric Cancer through Comprehensive TCGA and GEO Data Mining.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2557)
  AUTHORS   Leppavuori,J., Kujala,U., Kinnunen,J., Kaprio,J., Nissila,M.,
            Heliovaara,M., Klinger,N., Partanen,J., Terwilliger,J.D. and
            Peltonen,L.
  TITLE     Genome scan for predisposing loci for distal interphalangeal joint
            osteoarthritis: evidence for a locus on 2q
  JOURNAL   Am J Hum Genet 65 (4), 1060-1067 (1999)
   PUBMED   10486325
REFERENCE   7  (bases 1 to 2557)
  AUTHORS   Belluoccio,D., Schenker,T., Baici,A. and Trueb,B.
  TITLE     Characterization of human matrilin-3 (MATN3)
  JOURNAL   Genomics 53 (3), 391-394 (1998)
   PUBMED   9799608
REFERENCE   8  (bases 1 to 2557)
  AUTHORS   Belluoccio,D. and Trueb,B.
  TITLE     Matrilin-3 from chicken cartilage
  JOURNAL   FEBS Lett 415 (2), 212-216 (1997)
   PUBMED   9350998
REFERENCE   9  (bases 1 to 2557)
  AUTHORS   Wagener,R., Kobbe,B. and Paulsson,M.
  TITLE     Primary structure of matrilin-3, a new member of a family of
            extracellular matrix proteins related to cartilage matrix protein
            (matrilin-1) and von Willebrand factor
  JOURNAL   FEBS Lett 413 (1), 129-134 (1997)
   PUBMED   9287130
REFERENCE   10 (bases 1 to 2557)
  AUTHORS   Briggs,M.D., Wright,M.J. and Mortier,G.R.
  TITLE     Multiple Epiphyseal Dysplasia, Autosomal Dominant
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301302
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU121718.2, AJ224741.1,
            AC079145.4, Y13341.1 and CA447528.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002381.4.
            
            Summary: This gene encodes a member of von Willebrand factor A
            domain containing protein family. This family of proteins is
            thought to be involved in the formation of filamentous networks in
            the extracellular matrices of various tissues. This protein
            contains two von Willebrand factor A domains; it is present in the
            cartilage extracellular matrix and has a role in the development
            and homeostasis of cartilage and bone. Mutations in this gene
            result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul
            2008].
            
            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 :: BC139907.1, AJ224741.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000407540.8/ ENSP00000383894.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AU121718.2         27-46
            21-482              AJ224741.1         1-462
            483-654             AC079145.4         45009-45180
            655-1671            AJ224741.1         635-1651
            1672-2264           Y13341.1           1108-1700
            2265-2557           CA447528.1         18-310              c
FEATURES             Location/Qualifiers
     source          1..2557
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.1"
     gene            1..2557
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /note="matrilin 3"
                     /db_xref="GeneID:4148"
                     /db_xref="HGNC:HGNC:6909"
                     /db_xref="MIM:602109"
     exon            1..260
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..1498
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /codon_start=1
                     /product="matrilin-3 precursor"
                     /protein_id="NP_002372.1"
                     /db_xref="CCDS:CCDS46226.1"
                     /db_xref="GeneID:4148"
                     /db_xref="HGNC:HGNC:6909"
                     /db_xref="MIM:602109"
                     /translation="MPRPAPARRLPGLLLLLWPLLLLPSAAPDPVARPGFRRLETRGP
                     GGSPGRRPSPAAPDGAPASGTSEPGRARGAGVCKSRPLDLVFIIDSSRSVRPLEFTKV
                     KTFVSRIIDTLDIGPADTRVAVVNYASTVKIEFQLQAYTDKQSLKQAVGRITPLSTGT
                     MSGLAIQTAMDEAFTVEAGAREPSSNIPKVAIIVTDGRPQDQVNEVAARAQASGIELY
                     AVGVDRADMASLKMMASEPLEEHVFYVETYGVIEKLSSRFQETFCALDPCVLGTHQCQ
                     HVCISDGEGKHHCECSQGYTLNADKKTCSALDRCALNTHGCEHICVNDRSGSYHCECY
                     EGYTLNEDRKTCSAQDKCALGTHGCQHICVNDRTGSHHCECYEGYTLNADKKTCSVRD
                     KCALGSHGCQHICVSDGAASYHCDCYPGYTLNEDKKTCSATEEARRLVSTEDACGCEA
                     TLAFQDKVSSYLQRLNTKLDDILEKLKINEYGQIHR"
     exon            261..827
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /inference="alignment:Splign:2.1.0"
     exon            828..953
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1079
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1205
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1206..1331
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1442
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1443..2557
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2473..2478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /note="hexamer: AATAAA"
     polyA_site      2499
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /note="major polyA site"
     regulatory      2535..2540
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
                     /note="hexamer: ATTAAA"
     polyA_site      2557
                     /gene="MATN3"
                     /gene_synonym="DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD"
ORIGIN      
        1 gcccccgacg gacaccacca ggcccacgga gcccaccatg ccgcgcccgg cccccgcgcg
       61 ccgcctcccg ggactcctcc tgctgctctg gccgctgctg ctgctgccct ccgccgcccc
      121 cgaccccgtg gcccgcccgg gcttccggag gctggagacc cgaggtcccg ggggcagccc
      181 tggacgccgc ccctctcctg cggctcccga cggcgcgccc gcttccggga ccagcgagcc
      241 tggccgcgcc cgcggtgcag gtgtttgcaa gagcagaccc ttggacctgg tgtttatcat
      301 tgatagttct cgtagcgtac ggcccctgga attcaccaaa gtgaaaactt ttgtctcccg
      361 gataatcgac actctggaca ttgggccagc cgacacgcgg gtggcagtgg tgaactatgc
      421 tagcactgtg aagatcgagt tccaactcca ggcctacaca gataagcagt ccctgaagca
      481 ggccgtgggt cgaatcacac ccttgtcaac aggcaccatg tcaggcctag ccatccagac
      541 agcaatggac gaagccttca cagtggaggc aggggctcga gagccctctt ctaacatccc
      601 taaggtggcc atcattgtta cagatgggag gccccaggac caggtgaatg aggtggcggc
      661 tcgggcccaa gcatctggta ttgagctcta tgctgtgggc gtggaccggg cagacatggc
      721 gtccctcaag atgatggcca gtgagcccct agaggagcat gttttctacg tggagaccta
      781 tggggtcatt gagaaacttt cctctagatt ccaggaaacc ttctgtgcgc tggacccctg
      841 tgtgcttgga acacaccagt gccagcacgt ctgcatcagt gatggggaag gcaagcacca
      901 ctgtgagtgt agccaaggat acaccttgaa tgccgacaag aaaacgtgtt cagctcttga
      961 taggtgtgct cttaacaccc acggatgtga gcacatctgt gtgaatgaca gaagtggctc
     1021 ttatcattgt gagtgctatg aaggttatac cttgaatgaa gacaggaaaa cttgttcagc
     1081 tcaagataaa tgtgctttgg gtacccatgg gtgtcagcac atttgtgtga atgacagaac
     1141 agggtcccat cattgtgaat gctatgaggg ctacactctg aatgcagata aaaaaacatg
     1201 ttcagtccgt gacaagtgtg ccctaggctc tcatggttgc cagcacattt gtgtgagtga
     1261 tggggccgca tcctaccact gtgattgcta tcctggctac accttaaatg aggacaagaa
     1321 aacatgttca gccactgagg aagcacgaag acttgtttcc actgaagatg cttgtggatg
     1381 tgaagctaca ctggcattcc aggacaaggt cagctcgtat cttcaaagac tgaacactaa
     1441 acttgatgac attttggaga agttgaaaat aaatgaatat ggacaaatac atcgttaaat
     1501 tgctccaatt tctcacctga aaatgtggac agcttggtgt acttaatact catgcattct
     1561 tttgcacacc tgttattgcc aatgttcctg ctaataattt gccattatct gtattaatgc
     1621 ttgaatatta ctggataaat tgtatgaaga tcttctgcag aatcagcatg attcttccaa
     1681 ggaaatacat atgcagatac ttattaagag caaactttag tgtctctaag ttatgactgt
     1741 gaaatgattg gtaggaaata gaatgaaaag tttagtgttt ctttatctac taattgagcc
     1801 atttaatttt taaatgttta tattagataa ccatattcac aatggaaact ttaggtctag
     1861 tttcttttga tagtatttat aatataaatc aatcttatta ctgagagtgc aaattgtaca
     1921 aggtatttac acatacaact tcatataact gagatgaatg taattttgaa ctgtttaaca
     1981 ctttttgttt tttgcttatt ttgttggagt attattgaag atgtgatcaa tagattgtaa
     2041 tacacatatc taaaaatagt taacacagat caagtgaaca ttacattgcc atttttaatt
     2101 cattctggtc tttgaaagaa atgtactact aaagagcact agttgtgaat ttagggtgtt
     2161 aaacttttta ccaagtacaa aaatcccaaa ttcactttat tattttgctt caggatccaa
     2221 gtgacaaagt tatatattta taaaattgct ataaatcgac aaaatctaat gttgtctttt
     2281 taatgttagt gatccacctg cctcagcctc ccaaagtgct gggattacag gcttgaaagt
     2341 ctaacttttt tttacttata tatttgatac atataattct tttggctttg aaacttgcaa
     2401 ctttgagaac aaaacagtcc tttaaatttt gcactgctca attctgtttt tcgtttgcat
     2461 tgtctttaat ataataaaag ttattacctt tacatattat catgtctatt tttgatgact
     2521 catcaatttt gtctattaaa gatatttctt taaatta
//
