LOCUS       NM_002380               4133 bp    mRNA    linear   PRI 24-APR-2024
DEFINITION  Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.
ACCESSION   NM_002380
VERSION     NM_002380.5
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 4133)
  AUTHORS   Liu,J., Zhang,J., Zhang,Y., Yang,B., Liu,H. and Chen,Y.
  TITLE     MATN2 overexpression suppresses tumor growth in ovarian cancer via
            PTEN/PI3K/AKT pathway
  JOURNAL   Funct Integr Genomics 24 (2), 71 (2024)
   PUBMED   38568332
  REMARK    GeneRIF: MATN2 overexpression suppresses tumor growth in ovarian
            cancer via PTEN/PI3K/AKT pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4133)
  AUTHORS   Wang,L., Xu,Z., Hong,Y., Liu,Y., Zhang,X., Feng,Q., Zhang,D.,
            Chen,K., Yiming,G.H., Li,X., Liu,A. and Dong,L.
  TITLE     Low expression of TGF-beta2 and matrilin2 in human aqueous humour
            with acute primary angle closure
  JOURNAL   J Cell Mol Med 28 (3), e18111 (2024)
   PUBMED   38235996
  REMARK    GeneRIF: Low expression of TGF-beta2 and matrilin2 in human aqueous
            humour with acute primary angle closure.
REFERENCE   3  (bases 1 to 4133)
  AUTHORS   Wang,Z., Lee,J., Breen,C., Ruenger,T., Xiong,F., Goreshi,R., Lu,M.
            and Iwamoto,S.
  TITLE     Peritumoral matrilin-2 staining may be useful in distinguishing
            basal cell carcinoma from folliculocentric basaloid proliferation
  JOURNAL   J Cutan Pathol 49 (6), 543-548 (2022)
   PUBMED   35274748
  REMARK    GeneRIF: Peritumoral matrilin-2 staining may be useful in
            distinguishing basal cell carcinoma from folliculocentric basaloid
            proliferation.
REFERENCE   4  (bases 1 to 4133)
  AUTHORS   Modis,L.V., Varkoly,G., Bencze,J., Hortobagyi,T.G., Modis,L. Jr.
            and Hortobagyi,T.
  TITLE     Extracellular matrix changes in corneal opacification vary
            depending on etiology
  JOURNAL   Mol Vis 27, 26-36 (2021)
   PUBMED   33633437
  REMARK    GeneRIF: Extracellular matrix changes in corneal opacification vary
            depending on etiology.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4133)
  AUTHORS   The,E., Yao,Q., Zhang,P., Zhai,Y., Ao,L., Fullerton,D.A. and
            Meng,X.
  TITLE     Mechanistic Roles of Matrilin-2 and Klotho in Modulating the
            Inflammatory Activity of Human Aortic Valve Cells
  JOURNAL   Cells 9 (2), 385 (2020)
   PUBMED   32046115
  REMARK    GeneRIF: Mechanistic Roles of Matrilin-2 and Klotho in Modulating
            the Inflammatory Activity of Human Aortic Valve Cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4133)
  AUTHORS   Frank,S., Schulthess,T., Landwehr,R., Lustig,A., Mini,T., Jeno,P.,
            Engel,J. and Kammerer,R.A.
  TITLE     Characterization of the matrilin coiled-coil domains reveals seven
            novel isoforms
  JOURNAL   J Biol Chem 277 (21), 19071-19079 (2002)
   PUBMED   11896063
REFERENCE   7  (bases 1 to 4133)
  AUTHORS   Mates,L., Korpos,E., Deak,F., Liu,Z., Beier,D.R., Aszodi,A. and
            Kiss,I.
  TITLE     Comparative analysis of the mouse and human genes (Matn2 and MATN2)
            for matrilin-2, a filament-forming protein widely distributed in
            extracellular matrices
  JOURNAL   Matrix Biol 21 (2), 163-174 (2002)
   PUBMED   11852232
  REMARK    GeneRIF: matrilin-2, a filament-forming protein widely distributed
            in extracellular matrices.
REFERENCE   8  (bases 1 to 4133)
  AUTHORS   Muratoglu,S., Krysan,K., Balazs,M., Sheng,H., Zakany,R., Modis,L.,
            Kiss,I. and Deak,F.
  TITLE     Primary structure of human matrilin-2, chromosome location of the
            MATN2 gene and conservation of an AT-AC intron in matrilin genes
  JOURNAL   Cytogenet Cell Genet 90 (3-4), 323-327 (2000)
   PUBMED   11124542
REFERENCE   9  (bases 1 to 4133)
  AUTHORS   Piecha,D., Muratoglu,S., Morgelin,M., Hauser,N., Studer,D.,
            Kiss,I., Paulsson,M. and Deak,F.
  TITLE     Matrilin-2, a large, oligomeric matrix protein, is expressed by a
            great variety of cells and forms fibrillar networks
  JOURNAL   J Biol Chem 274 (19), 13353-13361 (1999)
   PUBMED   10224097
REFERENCE   10 (bases 1 to 4133)
  AUTHORS   Deak,F., Piecha,D., Bachrati,C., Paulsson,M. and Kiss,I.
  TITLE     Primary structure and expression of matrilin-2, the closest
            relative of cartilage matrix protein within the von Willebrand
            factor type A-like module superfamily
  JOURNAL   J Biol Chem 272 (14), 9268-9274 (1997)
   PUBMED   9083061
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002906.2 and AP003352.2.
            
            On Nov 23, 2018 this sequence version replaced NM_002380.4.
            
            Summary: This gene encodes a member of the 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 five von Willebrand factor A domains. The specific
            function of this gene has not yet been determined. Two transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: HM005717.1, SRR1803615.35681.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254898.7/ ENSP00000254898.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-224               AP002906.2         41782-42005
            225-392             AP002906.2         60793-60960
            393-962             AP002906.2         103671-104240
            963-1085            AP002906.2         114495-114617
            1086-1208           AP002906.2         134126-134248
            1209-1331           AP002906.2         151604-151726
            1332-1454           AP003352.2         91370-91492
            1455-1577           AP003352.2         100551-100673
            1578-1700           AP003352.2         103995-104117
            1701-1823           AP003352.2         104369-104491
            1824-1946           AP003352.2         113430-113552
            1947-2069           AP003352.2         114884-115006
            2070-2192           AP003352.2         118095-118217
            2193-2606           AP003352.2         124306-124719
            2607-2759           AP003352.2         127352-127504
            2760-2831           AP003352.2         129136-129207
            2832-2966           AP003352.2         129932-130066
            2967-3065           AP003352.2         130451-130549
            3066-4133           AP003352.2         132547-133614
FEATURES             Location/Qualifiers
     source          1..4133
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1-q22.2"
     gene            1..4133
                     /gene="MATN2"
                     /note="matrilin 2"
                     /db_xref="GeneID:4147"
                     /db_xref="HGNC:HGNC:6908"
                     /db_xref="MIM:602108"
     exon            1..224
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            225..392
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             251..3121
                     /gene="MATN2"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; testis tissue sperm-binding protein Li 94mP"
                     /codon_start=1
                     /product="matrilin-2 isoform a precursor"
                     /protein_id="NP_002371.3"
                     /db_xref="CCDS:CCDS55264.1"
                     /db_xref="GeneID:4147"
                     /db_xref="HGNC:HGNC:6908"
                     /db_xref="MIM:602108"
                     /translation="MEKMLAGCFLLILGQIVLLPAEARERSRGRSISRGRHARTHPQT
                     ALLESSCENKRADLVFIIDSSRSVNTHDYAKVKEFIVDILQFLDIGPDVTRVGLLQYG
                     STVKNEFSLKTFKRKSEVERAVKRMRHLSTGTMTGLAIQYALNIAFSEAEGARPLREN
                     VPRVIMIVTDGRPQDSVAEVAAKARDTGILIFAIGVGQVDFNTLKSIGSEPHEDHVFL
                     VANFSQIETLTSVFQKKLCTAHMCSTLEHNCAHFCINIPGSYVCRCKQGYILNSDQTT
                     CRIQDLCAMEDHNCEQLCVNVPGSFVCQCYSGYALAEDGKRCVAVDYCASENHGCEHE
                     CVNADGSYLCQCHEGFALNPDKKTCTKIDYCASSNHGCQHECVNTDDSYSCHCLKGFT
                     LNPDKKTCRRINYCALNKPGCEHECVNMEESYYCRCHRGYTLDPNGKTCSRVDHCAQQ
                     DHGCEQLCLNTEDSFVCQCSEGFLINEDLKTCSRVDYCLLSDHGCEYSCVNMDRSFAC
                     QCPEGHVLRSDGKTCAKLDSCALGDHGCEHSCVSSEDSFVCQCFEGYILREDGKTCRR
                     KDVCQAIDHGCEHICVNSDDSYTCECLEGFRLAEDGKRCRRKDVCKSTHHGCEHICVN
                     NGNSYICKCSEGFVLAEDGRRCKKCTEGPIDLVFVIDGSKSLGEENFEVVKQFVTGII
                     DSLTISPKAARVGLLQYSTQVHTEFTLRNFNSAKDMKKAVAHMKYMGKGSMTGLALKH
                     MFERSFTQGEGARPLSTRVPRAAIVFTDGRAQDDVSEWASKAKANGITMYAVGVGKAI
                     EEELQEIASEPTNKHLFYAEDFSTMDEISEKLKKGICEALEDSDGRQDSPAGELPKTV
                     QQPTESEPVTINIQDLLSCSNFAVQHRYLFEEDNLLRSTQKLSHSTKPSGSPLEEKHD
                     QCKCENLIMFQNLANEEVRKLTQRLEEMTQRMEALENRLRYR"
     exon            393..962
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1085
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1208
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1209..1331
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1454
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1577
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1578..1700
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1701..1823
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1824..1946
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1947..2069
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2070..2192
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2193..2606
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2607..2759
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2760..2831
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2832..2966
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2967..3065
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     exon            3066..4133
                     /gene="MATN2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3600..3605
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATN2"
                     /note="hexamer: ATTAAA"
     polyA_site      3623
                     /gene="MATN2"
                     /note="major polyA site"
     regulatory      4109..4114
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATN2"
                     /note="hexamer: AATAAA"
     polyA_site      4133
                     /gene="MATN2"
ORIGIN      
        1 agcgcctccc aggcagccag cgagcgaagg gagcgctctg ggatgggact tggagcaagc
       61 ggcggcggcg gagacagagg cagaggcaga agctggggct ccgtcctcgc ctcccacgag
      121 cgatccccga ggagagccgc ggccctcggc gaggcgaaga ggccgacgag gaagacccgg
      181 gtggctgcgc ccctgcctcg cttcccaggc gccggcggct gcagccttgc ccctcttgct
      241 cgccttgaaa atggaaaaga tgctcgcagg ctgctttctg ctgatcctcg gacagatcgt
      301 cctcctccct gccgaggcca gggagcggtc acgtgggagg tccatctcta ggggcagaca
      361 cgctcggacc cacccgcaga cggcccttct ggagagttcc tgtgagaaca agcgggcaga
      421 cctggttttc atcattgaca gctctcgcag tgtcaacacc catgactatg caaaggtcaa
      481 ggagttcatc gtggacatct tgcaattctt ggacattggt cctgatgtca cccgagtggg
      541 cctgctccaa tatggcagca ctgtcaagaa tgagttctcc ctcaagacct tcaagaggaa
      601 gtccgaggtg gagcgtgctg tcaagaggat gcggcatctg tccacgggca ccatgactgg
      661 gctggccatc cagtatgccc tgaacatcgc attctcagaa gcagaggggg cccggcccct
      721 gagggagaat gtgccacggg tcataatgat cgtgacagat gggagacctc aggactccgt
      781 ggccgaggtg gctgctaagg cacgggacac gggcatccta atctttgcca ttggtgtggg
      841 ccaggtagac ttcaacacct tgaagtccat tgggagtgag ccccatgagg accatgtctt
      901 ccttgtggcc aatttcagcc agattgagac gctgacctcc gtgttccaga agaagttgtg
      961 cacggcccat atgtgcagca ccctggagca taactgtgcc cacttctgca tcaacatccc
     1021 tggctcatac gtctgcaggt gcaaacaagg ctacattctc aactcggatc agacgacttg
     1081 cagaatccag gatctgtgtg ccatggagga ccacaactgt gagcagctct gtgtgaatgt
     1141 gccgggctcc ttcgtctgcc agtgctacag tggctacgcc ctggctgagg atgggaagag
     1201 gtgtgtggct gtggactact gtgcctcaga aaaccacgga tgtgaacatg agtgtgtaaa
     1261 tgctgatggc tcctaccttt gccagtgcca tgaaggattt gctcttaacc cagataaaaa
     1321 aacgtgcaca aagatagact actgtgcctc atctaatcac ggatgtcagc acgagtgtgt
     1381 taacacagat gattcctatt cctgccactg cctgaaaggc tttaccctga atccagataa
     1441 gaaaacctgc agaaggatca actactgtgc actgaacaaa ccgggctgtg agcatgagtg
     1501 cgtcaacatg gaggagagct actactgccg ctgccaccgt ggctacactc tggaccccaa
     1561 tggcaaaacc tgcagccgag tggaccactg tgcacagcag gaccatggct gtgagcagct
     1621 gtgtctgaac acggaggatt ccttcgtctg ccagtgctca gaaggcttcc tcatcaacga
     1681 ggacctcaag acctgctccc gggtggatta ctgcctgctg agtgaccatg gttgtgaata
     1741 ctcctgtgtc aacatggaca gatcctttgc ctgtcagtgt cctgagggac acgtgctccg
     1801 cagcgatggg aagacgtgtg caaaattgga ctcttgtgct ctgggggacc acggttgtga
     1861 acattcgtgt gtaagcagtg aagattcgtt tgtgtgccag tgctttgaag gttatatact
     1921 ccgtgaagat ggaaaaacct gcagaaggaa agatgtctgc caagctatag accatggctg
     1981 tgaacacatt tgtgtgaaca gtgatgactc atacacgtgc gagtgcttgg agggattccg
     2041 gctcgctgag gatgggaaac gctgccgaag gaaggatgtc tgcaaatcaa cccaccatgg
     2101 ctgcgaacac atttgtgtta ataatgggaa ttcctacatc tgcaaatgct cagagggatt
     2161 tgttctagct gaggacggaa gacggtgcaa gaaatgcact gaaggcccaa ttgacctggt
     2221 ctttgtgatc gatggatcca agagtcttgg agaagagaat tttgaggtcg tgaagcagtt
     2281 tgtcactgga attatagatt ccttgacaat ttcccccaaa gccgctcgag tggggctgct
     2341 ccagtattcc acacaggtcc acacagagtt cactctgaga aacttcaact cagccaaaga
     2401 catgaaaaaa gccgtggccc acatgaaata catgggaaag ggctctatga ctgggctggc
     2461 cctgaaacac atgtttgaga gaagttttac ccaaggagaa ggggccaggc ccctttccac
     2521 aagggtgccc agagcagcca ttgtgttcac cgacggacgg gctcaggatg acgtctccga
     2581 gtgggccagt aaagccaagg ccaatggtat cactatgtat gctgttgggg taggaaaagc
     2641 cattgaggag gaactacaag agattgcctc tgagcccaca aacaagcatc tcttctatgc
     2701 cgaagacttc agcacaatgg atgagataag tgaaaaactc aagaaaggca tctgtgaagc
     2761 tctagaagac tccgatggaa gacaggactc tccagcaggg gaactgccaa aaacggtcca
     2821 acagccaaca gaatctgagc cagtcaccat aaatatccaa gacctacttt cctgttctaa
     2881 ttttgcagtg caacacagat atctgtttga agaagacaat cttttacggt ctacacaaaa
     2941 gctttcccat tcaacaaaac cttcaggaag ccctttggaa gaaaaacacg atcaatgcaa
     3001 atgtgaaaac cttataatgt tccagaacct tgcaaacgaa gaagtaagaa aattaacaca
     3061 gcgcttagaa gaaatgacac agagaatgga agccctggaa aatcgcctga gatacagatg
     3121 aagattagaa atcgcgacac atttgtagtc attgtatcac ggattacaat gaacgcagtg
     3181 cagagcccca aagctcaggc tattgttaaa tcaataatgt tgtgaagtaa aacaatcagt
     3241 actgagaaac ctggtttgcc acagaacaaa gacaagaagt atacactaac ttgtataaat
     3301 ttatctagga aaaaaatcct tcagaattct aagatgaatt taccaggtga gaatgaataa
     3361 gctatgcaag gtattttgta atatactgtg gacacaactt gcttctgcct catcctgcct
     3421 tagtgtgcaa tctcatttga ctatacgata aagtttgcac agtcttactt ctgtagaaca
     3481 ctggccatag gaaatgctgt ttttttgtac tggactttac cttgatatat gtatatggat
     3541 gtatgcataa aatcatagga catatgtact tgtggaacaa gttggatttt ttatacaata
     3601 ttaaaattca ccacttcaga gaatggtatt cagtgcaaaa attcttagtt taactttaaa
     3661 tggaagatat gtatgtatga gaaatggcca acatgcctat gaaaaaaatg ctgaatctca
     3721 tcagtaatca ggaaaatgca ggttaaaaca ataccatttt tcacccatca gcttagcaaa
     3781 aatgagtata ttttttaaca agtgttggta aggatgtgga aatgtgaggt tcttgtagta
     3841 agaatgcaaa tggcactctt tgtagagtaa gtctgttgac atctcataaa actgaaaatg
     3901 cacacaaccc tgtaaatcta gcaactgcac tcagttgatt tcagcccata catacaaaga
     3961 gacctgcata agaatgttac taggctttgt aaaagcaaaa aataaggaac aacttaaaca
     4021 tcatcagaag gggaactgat aaactctggt gtaatccata ccacagaaat acaacaccgc
     4081 atgtacagga atgtgctaca tctatacaaa taaatggtca aactcaaaac aaa
//
