LOCUS       NM_153267               3351 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens MAM domain containing 2 (MAMDC2), transcript variant
            1, mRNA.
ACCESSION   NM_153267
VERSION     NM_153267.5
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 3351)
  AUTHORS   Mavillard,F., Servian-Morilla,E., Dofash,L., Rojas-Marcos,I.,
            Folland,C., Monahan,G., Gutierrez-Gutierrez,G., Rivas,E.,
            Hernandez-Lain,A., Valladares,A., Cantero,G., Morales,J.M.,
            Laing,N.G., Paradas,C., Ravenscroft,G. and Cabrera-Serrano,M.
  TITLE     Ablation of the carboxy-terminal end of MAMDC2 causes a distinct
            muscular dystrophy
  JOURNAL   Brain 146 (12), 5235-5248 (2023)
   PUBMED   37503746
  REMARK    GeneRIF: Ablation of the carboxy-terminal end of MAMDC2 causes a
            distinct muscular dystrophy.
REFERENCE   2  (bases 1 to 3351)
  AUTHORS   Lee,H., Park,B.C., Soon Kang,J., Cheon,Y., Lee,S. and Jae Maeng,P.
  TITLE     MAM domain containing 2 is a potential breast cancer biomarker that
            exhibits tumour-suppressive activity
  JOURNAL   Cell Prolif 53 (9), e12883 (2020)
   PUBMED   32707597
  REMARK    GeneRIF: MAM domain containing 2 is a potential breast cancer
            biomarker that exhibits tumour-suppressive activity.
REFERENCE   3  (bases 1 to 3351)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3351)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   5  (bases 1 to 3351)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC063634.1, AL392044.7 and AL158153.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_153267.4.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC063634.1, BC016383.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377182.5/ ENSP00000366387.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1230              BC063634.1         245-1474
            1231-1250           AL392044.7         104284-104303
            1251-2822           BC063634.1         1495-3066
            2823-3351           AL158153.10        37226-37754
FEATURES             Location/Qualifiers
     source          1..3351
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.12"
     gene            1..3351
                     /gene="MAMDC2"
                     /note="MAM domain containing 2"
                     /db_xref="GeneID:256691"
                     /db_xref="HGNC:HGNC:23673"
                     /db_xref="MIM:612879"
     exon            1..384
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             351..2411
                     /gene="MAMDC2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; MAM domain-containing protein 2; mamcan; MAM
                     domain-containing proteoglycan"
                     /codon_start=1
                     /product="MAM domain-containing protein 2 isoform 1
                     precursor"
                     /protein_id="NP_694999.3"
                     /db_xref="CCDS:CCDS6631.1"
                     /db_xref="GeneID:256691"
                     /db_xref="HGNC:HGNC:23673"
                     /db_xref="MIM:612879"
                     /translation="MLLRGVLLALQALQLAGALDLPAGSCAFEESTCGFDSVLASLPW
                     ILNEEGHYIYVDTSFGKQGEKAVLLSPDLQAEEWSCLRLVYQITTSSESLSDPSQLNL
                     YMRFEDESFDRLLWSAKEPSDSWLIASLDLQNSSKKFKILIEGVLGQGNTASIALFEI
                     KMTTGYCIECDFEENHLCGFVNRWNPNVNWFVGGGSIRNVHSILPQDHTFKSELGHYM
                     YVDSVYVKHFQEVAQLISPLTTAPMAGCLSFYYQIQQGNDNVFSLYTRDVAGLYEEIW
                     KADRPGNAAWNLAEVEFSAPYPMEVIFEVAFNGPKGGYVALDDISFSPVHCQNQTELL
                     FSAVEASCNFEQDLCNFYQDKEGPGWTRVKVKPNMYRAGDHTTGLGYYLLANTKFTSQ
                     PGYIGRLYGPSLPGNLQYCLRFHYAIYGFLKMSDTLAVYIFEENHVVQEKIWSVLESP
                     RGVWMQAEITFKKPMPTKVVFMSLCKSFWDCGLVALDDITIQLGSCSSSEKLPPPPGE
                     CTFEQDECTFTQEKRNRSSWHRRRGETPTSYTGPKGDHTTGVGYYMYIEASHMVYGQK
                     ARLLSRPLRGVSGKHCLTFFYHMYGGGTGLLSVYLKKEEDSEESLLWRRRGEQSISWL
                     RALIEYSCERQHQIIFEAIRGVSIRSDIAIDDVKFQAGPCGEMEDTTQQSSGYSEDLN
                     EIEY"
     exon            385..498
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            499..770
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            771..855
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            856..993
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1250
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1344
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1488
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..1754
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1755..1848
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1849..2001
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2002..2261
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2262..2346
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2347..3351
                     /gene="MAMDC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3329..3334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAMDC2"
                     /note="hexamer: AATAAA"
     polyA_site      3351
                     /gene="MAMDC2"
                     /note="major polyA site"
ORIGIN      
        1 gacctctcct ctcccagcca gtcgtggctg gcctttcaaa gtgtgcagtt gtctcctccc
       61 tgtccagccc catcgtcgcc caggaccagc tgggccgcgg tctgacctga ggctgctgct
      121 cagcgccggg gcgctggcgc tctccattcg agcaccttcc agcataccgc tcggctccgg
      181 gagccgctct gcaaagttgg gcagctcaga gcgcaagctt tgcctctcga cttctccctc
      241 cttgggtccc cggcgccccc gcctcccacg atccctttca ctaggagcag ccagtcccag
      301 cgggctggca acttgcaccc cttcctagtc atcctccctg aaacgcgacc atgctgttaa
      361 ggggcgtcct cctggcgttg caagccctgc agctcgccgg tgccctcgac ctgcccgctg
      421 ggtcctgtgc ctttgaagag agcacttgcg gctttgactc cgtgttggcc tctctgccgt
      481 ggattttaaa tgaggaaggc cattacattt atgtggatac ctcctttggc aagcaggggg
      541 agaaagctgt gctgctaagt cctgacttac aggctgagga atggagctgc ctccgtttgg
      601 tctaccagat aaccacatct tcggagtctc tgtcagatcc cagccagctg aacctctaca
      661 tgagatttga agatgaaagc tttgatcgct tgctttggtc agctaaggaa ccttcagaca
      721 gctggctcat agccagcttg gatttgcaaa acagttccaa gaaattcaag attttaatag
      781 aaggtgtact aggacaggga aacacagcca gcatcgcact atttgaaatc aagatgacaa
      841 ccggctactg tattgaatgt gactttgaag aaaatcatct ctgtggcttt gtgaaccgct
      901 ggaatcccaa tgtgaactgg tttgttggag gaggaagtat tcggaatgtc cactccattc
      961 tcccacagga tcacaccttc aagagtgaac tgggccacta catgtacgtg gactcagttt
     1021 atgtgaagca cttccaggag gtggcacagc tcatctcccc gttgaccacg gcccccatgg
     1081 ctggctgcct gtcattttat taccagatcc agcaggggaa tgacaatgtc ttttcccttt
     1141 acactcggga tgtggctggc ctttacgagg aaatctggaa agcagacagg ccagggaatg
     1201 ctgcctggaa ccttgcggag gtcgagttca gtgctcctta ccccatggag gttatttttg
     1261 aagttgcttt caatggtccc aagggaggtt atgttgccct ggatgatatt tcattctctc
     1321 ctgttcactg ccagaatcag acagaacttc tgttcagtgc cgtggaagcc agctgcaatt
     1381 ttgagcaaga tctctgcaac ttttaccaag ataaagaagg tccaggttgg acccgagtga
     1441 aagtaaaacc aaacatgtat cgggctggag accacactac aggcttaggg tattacctgc
     1501 tagccaacac aaagttcaca tctcagcctg gctacattgg aaggctctat gggccctccc
     1561 taccaggaaa cttgcagtat tgtctgcgtt ttcattatgc catctatgga tttttaaaaa
     1621 tgagtgacac cctagcagtt tacatctttg aagagaacca tgtggttcaa gagaagatct
     1681 ggtctgtgtt ggagtcccca aggggtgttt ggatgcaagc tgaaatcacc tttaagaagc
     1741 ccatgcctac caaggtggtt ttcatgagcc tatgcaaaag tttctgggac tgtgggcttg
     1801 tagccctgga tgacattaca atacaattgg gaagctgctc atcttcagag aaacttccac
     1861 ctccacctgg agagtgtact ttcgagcaag atgaatgtac atttactcag gagaaaagaa
     1921 accggagcag ctggcacagg aggaggggag aaactcccac ttcctacaca ggaccaaagg
     1981 gagatcacac tactggggta ggctactaca tgtacattga ggcctcccat atggtgtatg
     2041 gacaaaaagc acgcctcttg tccaggcctc tgcgaggagt ctctggaaaa cactgcttga
     2101 cctttttcta ccacatgtat ggagggggca ctggcctgct gagtgtttat ctgaaaaagg
     2161 aagaagacag tgaagagtcc ctcttatgga ggagaagagg tgaacagagc atttcctggc
     2221 tacgagcact gattgaatac agctgtgaga ggcaacacca gataattttt gaagccattc
     2281 gaggagtatc aataagaagt gatattgcca ttgatgatgt taaatttcag gcaggaccct
     2341 gtggagaaat ggaagataca actcaacaat catcaggata ttctgaggac ttaaatgaaa
     2401 ttgagtatta agaaatgatc tgcattggat ttactagacg aaaaccatac ctctcttcaa
     2461 tcaaaatgaa aacaaagcaa atgaatactg gacagtctta acaattttat aagttataaa
     2521 atgactttag agcaccctcc ttcattactt ttgcaaaaac atactgactc agggctcttt
     2581 ttttcttttt gcatatgaca actgttacta gaaatacagg ctactggttt tgcatagatc
     2641 attcatctta attttggtac cagttaaaaa tacaaatgta ctatattgta gtcattttaa
     2701 agtacacaaa gggcacaatc aaaatgagat gcactcattt aaatctgcat tcagtgaatg
     2761 tattgggaga aaaataggtc ttgcaggttt ccttttgaat tttaagtatc ataaatattt
     2821 ttaaagtaaa taatacgggg tgtcagtaat atctgcagaa tgaatgcagt ctttcatgct
     2881 aatgagttag tctggaaaaa taaagtctta ttttctatgt tttattcata gaaatggagt
     2941 attaattttt aatattttca ccatatgtga taacaaagga tctttcatga atgtccaagg
     3001 gtaagtcagt attaattaat gctgtattac aaggcaatgc taccttcttt attccccctt
     3061 tgaactacct ttgaagtcac tatgagcaca tggatagaaa tttaactttt ttttgtaaag
     3121 caagcttaaa atgtttatgt atacataccc agcaactttt ataaatgtgt taaacaattt
     3181 tactgatttt tataataaat attttggtaa gattttgaat aatatgaatt caggcagata
     3241 tactaaactg cttttattta cttgtttaga aaattgtata tatatgtttg tgtatcctaa
     3301 cagctgctat gaaattataa aattacctaa taaaaataat ttgaaaatct t
//
