LOCUS       NP_694999                686 aa            linear   PRI 28-APR-2025
DEFINITION  MAM domain-containing protein 2 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_694999
VERSION     NP_694999.3
DBSOURCE    REFSEQ: accession 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  (residues 1 to 686)
  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  (residues 1 to 686)
  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  (residues 1 to 686)
  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  (residues 1 to 686)
  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  (residues 1 to 686)
  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 Feb 11, 2009 this sequence version replaced NP_694999.2.
            
            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##
FEATURES             Location/Qualifiers
     source          1..686
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.12"
     Protein         1..686
                     /product="MAM domain-containing protein 2 isoform 1
                     precursor"
                     /note="MAM domain-containing protein 2; mamcan; MAM
                     domain-containing proteoglycan"
                     /calculated_mol_wt=75723
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=1851
     mat_peptide     19..686
                     /product="MAM domain-containing protein 2.
                     /id=PRO_0000014862"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z304.3)"
                     /calculated_mol_wt=75723
     Region          26..167
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     Site            134
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q7Z304.3)"
     Region          170..327
                     /region_name="MAM"
                     /note="MAM domain, meprin/A5/mu; pfam00629"
                     /db_xref="CDD:459878"
     Site            329
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q7Z304.3)"
     Region          342..497
                     /region_name="MAM"
                     /note="MAM domain, meprin/A5/mu; pfam00629"
                     /db_xref="CDD:459878"
     Region          509..664
                     /region_name="MAM"
                     /note="Meprin, A5 protein, and protein tyrosine
                     phosphatase Mu (MAM) domain. MAM is an extracellular
                     domain which mediates protein-protein interactions and is
                     found in a diverse set of proteins, many of which are
                     known to function in cell adhesion. Members...; cd06263"
                     /db_xref="CDD:99706"
     Region          521..543
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z304.3)"
     Site            524
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q7Z304.3)"
     Region          665..686
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z304.3)"
     CDS             1..686
                     /gene="MAMDC2"
                     /coded_by="NM_153267.5:351..2411"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS6631.1"
                     /db_xref="GeneID:256691"
                     /db_xref="HGNC:HGNC:23673"
                     /db_xref="MIM:612879"
ORIGIN      
        1 mllrgvllal qalqlagald lpagscafee stcgfdsvla slpwilneeg hyiyvdtsfg
       61 kqgekavlls pdlqaeewsc lrlvyqitts seslsdpsql nlymrfedes fdrllwsake
      121 psdswliasl dlqnsskkfk iliegvlgqg ntasialfei kmttgyciec dfeenhlcgf
      181 vnrwnpnvnw fvgggsirnv hsilpqdhtf kselghymyv dsvyvkhfqe vaqlispltt
      241 apmagclsfy yqiqqgndnv fslytrdvag lyeeiwkadr pgnaawnlae vefsapypme
      301 vifevafngp kggyvalddi sfspvhcqnq tellfsavea scnfeqdlcn fyqdkegpgw
      361 trvkvkpnmy ragdhttglg yyllantkft sqpgyigrly gpslpgnlqy clrfhyaiyg
      421 flkmsdtlav yifeenhvvq ekiwsvlesp rgvwmqaeit fkkpmptkvv fmslcksfwd
      481 cglvalddit iqlgscssse klppppgect feqdectftq ekrnrsswhr rrgetptsyt
      541 gpkgdhttgv gyymyieash mvygqkarll srplrgvsgk hcltffyhmy gggtgllsvy
      601 lkkeedsees llwrrrgeqs iswlraliey scerqhqiif eairgvsirs diaiddvkfq
      661 agpcgemedt tqqssgysed lneiey
//
