LOCUS       NM_005374               4202 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens MAGUK p55 scaffold protein 2 (MPP2), transcript
            variant 3, mRNA.
ACCESSION   NM_005374
VERSION     NM_005374.5
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 4202)
  AUTHORS   Liu,X., Meng,J., Liao,X., Liu,Y., Zhou,Q., Xu,Z., Yin,S., Cao,Q.,
            Su,G., He,S., Li,W., Wang,X., Wang,G., Li,D., Yang,P. and Hou,S.
  TITLE     A de novo missense mutation in MPP2 confers an increased risk of
            Vogt-Koyanagi-Harada disease as shown by trio-based whole-exome
            sequencing
  JOURNAL   Cell Mol Immunol 20 (11), 1379-1392 (2023)
   PUBMED   37828081
  REMARK    GeneRIF: A de novo missense mutation in MPP2 confers an increased
            risk of Vogt-Koyanagi-Harada disease as shown by trio-based
            whole-exome sequencing.
REFERENCE   2  (bases 1 to 4202)
  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   3  (bases 1 to 4202)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4202)
  AUTHORS   Cox,A.J., Hugenschmidt,C.E., Raffield,L.M., Langefeld,C.D.,
            Freedman,B.I., Williamson,J.D., Hsu,F.C. and Bowden,D.W.
  TITLE     Heritability and genetic association analysis of cognition in the
            Diabetes Heart Study
  JOURNAL   Neurobiol Aging 35 (8), 1958 (2014)
   PUBMED   24684796
REFERENCE   5  (bases 1 to 4202)
  AUTHORS   Baumgartner,M., Weiss,A., Fritzius,T., Heinrich,J. and Moelling,K.
  TITLE     The PDZ protein MPP2 interacts with c-Src in epithelial cells
  JOURNAL   Exp Cell Res 315 (17), 2888-2898 (2009)
   PUBMED   19665017
  REMARK    GeneRIF: MPP2 interacts with c-Src in cells to control c-Src
            activity and morphological function.
REFERENCE   6  (bases 1 to 4202)
  AUTHORS   Shin,B.K., Wang,H., Yim,A.M., Le Naour,F., Brichory,F., Jang,J.H.,
            Zhao,R., Puravs,E., Tra,J., Michael,C.W., Misek,D.E. and
            Hanash,S.M.
  TITLE     Global profiling of the cell surface proteome of cancer cells
            uncovers an abundance of proteins with chaperone function
  JOURNAL   J Biol Chem 278 (9), 7607-7616 (2003)
   PUBMED   12493773
REFERENCE   7  (bases 1 to 4202)
  AUTHORS   Smith,S.A., Holik,P., Stevens,J., Mazoyer,S., Melis,R.,
            Williams,B., White,R. and Albertsen,H.
  TITLE     Isolation of a gene (DLG3) encoding a second member of the
            discs-large family on chromosome 17q12-q21
  JOURNAL   Genomics 31 (2), 145-150 (1996)
   PUBMED   8824795
REFERENCE   8  (bases 1 to 4202)
  AUTHORS   Mazoyer,S., Gayther,S.A., Nagai,M.A., Smith,S.A., Dunning,A., van
            Rensburg,E.J., Albertsen,H., White,R. and Ponder,B.A.
  TITLE     A gene (DLG2) located at 17q12-q21 encodes a new homologue of the
            Drosophila tumor suppressor dIg-A
  JOURNAL   Genomics 28 (1), 25-31 (1995)
   PUBMED   7590743
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK223560.1, AC007993.15, AK299286.1 and AL136554.1.
            
            On Jun 2, 2019 this sequence version replaced NM_005374.4.
            
            Summary:  Palmitoylated membrane protein 2 is a member of a family
            of membrane-associated proteins termed MAGUKs (membrane-associated
            guanylate kinase homologs).  MAGUKs interact with the cytoskeleton
            and regulate cell proliferation, signaling pathways, and
            intracellular junctions.  Palmitoylated membrane protein 2 contains
            a conserved sequence, called the SH3 (src homology 3) motif, found
            in several other proteins that associate with the cytoskeleton and
            are suspected to play important roles in signal transduction.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            represents use of an alternate promoter, compared to variant 1.
            Variants 3 and 9 encode isoform 3 which has a shorter N-terminus
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030287.1, SRR1803617.15064.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269095.9/ ENSP00000269095.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-476               AK223560.1         1-476
            477-477             AC007993.15        118545-118545
            478-620             AK223560.1         478-620
            621-621             AC007993.15        119080-119080
            622-1771            AK223560.1         622-1771
            1772-1772           AC007993.15        123730-123730
            1773-1837           AK223560.1         1773-1837
            1838-2185           AK299286.1         1774-2121
            2186-3400           AC007993.15        124144-125358
            3401-3717           AL136554.1         3382-3698
            3718-3718           AC007993.15        125676-125676
            3719-4202           AL136554.1         3700-4183
FEATURES             Location/Qualifiers
     source          1..4202
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..4202
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /note="MAGUK p55 scaffold protein 2"
                     /db_xref="GeneID:4355"
                     /db_xref="HGNC:HGNC:7220"
                     /db_xref="MIM:600723"
     exon            1..63
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            64..127
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1755
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /note="isoform 3 is encoded by transcript variant 3; MAGUK
                     p55 subfamily member 2; discs large, homolog 2; membrane
                     protein, palmitoylated 2 (MAGUK p55 subfamily member 2);
                     membrane palmitoylated protein 2"
                     /codon_start=1
                     /product="MAGUK p55 subfamily member 2 isoform 3"
                     /protein_id="NP_005365.4"
                     /db_xref="CCDS:CCDS11471.1"
                     /db_xref="GeneID:4355"
                     /db_xref="HGNC:HGNC:7220"
                     /db_xref="MIM:600723"
                     /translation="MPVAATNSETAMQQVLDNLGSLPSATGAAELDLIFLRGIMESPI
                     VRSLAKAHERLEETKLEAVRDNNLELVQEILRDLAQLAEQSSTAAELAHILQEPHFQS
                     LLETHDSVASKTYETPPPSPGLDPTFSNQPVPPDAVRMVGIRKTAGEHLGVTFRVEGG
                     ELVIARILHGGMVAQQGLLHVGDIIKEVNGQPVGSDPRALQELLRNASGSVILKILPS
                     YQEPHLPRQVFVKCHFDYDPARDSLIPCKEAGLRFNAGDLLQIVNQDDANWWQACHVE
                     GGSAGLIPSQLLEEKRKAFVKRDLELTPNSGTLCGSLSGKKKKRMMYLTTKNAEFDRH
                     ELLIYEEVARMPPFRRKTLVLIGAQGVGRRSLKNKLIMWDPDRYGTTVPYTSRRPKDS
                     EREGQGYSFVSRGEMEADVRAGRYLEHGEYEGNLYGTRIDSIRGVVAAGKVCVLDVNP
                     QAVKVLRTAEFVPYVVFIEAPDFETLRAMNRAALESGISTKQLTEADLRRTVEESSRI
                     QRGYGHYFDLCLVNSNLERTFRELQTAMEKLRTEPQWVPVSWVY"
     exon            128..246
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            247..399
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            400..549
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            550..777
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            778..909
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1015
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1084
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1246
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1449
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..1578
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..4202
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3377..3382
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /note="hexamer: AATAAA"
     polyA_site      3400
                     /gene="MPP2"
                     /gene_synonym="DLG2"
     regulatory      4185..4190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /note="hexamer: ATTAAA"
     polyA_site      4202
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /note="major polyA site"
ORIGIN      
        1 aataaacgct gagcgcccgg ctgcgctgga gccgcccgga gctaggggct tcccggggcg
       61 caggagagac gtttcagagc ccttgcctcc ttcaccatgc cggttgccgc caccaactct
      121 gaaactgcca tgcagcaagt cctggacaac ttgggatccc tccccagtgc cacgggggct
      181 gcagagctgg acctgatctt ccttcgaggc attatggaaa gtcccatagt aagatccctg
      241 gccaaggccc atgagaggct ggaggagacg aagctggagg ccgtgagaga caacaacctg
      301 gagctggtgc aggagatcct gcgggacctg gcgcagctgg ctgagcagag cagcacagcc
      361 gccgagctgg cccacatcct ccaggagccc cacttccagt ccctcctgga gacgcacgac
      421 tctgtggcct caaagaccta tgagacacca ccccccagcc ctggcctgga ccctacattc
      481 agcaaccagc ctgtacctcc cgatgctgtg cgcatggtgg gcatccgcaa gacagccgga
      541 gaacatctgg gtgtaacgtt ccgcgtggag ggcggcgagc tggtgatcgc gcgcattctg
      601 catgggggca tggtggctca acaaggcctg ctgcatgtgg gtgacatcat caaggaggtg
      661 aacgggcagc cagtgggcag tgacccccgc gcactgcagg agctcctgcg caatgccagt
      721 ggcagtgtca tcctcaagat cctgcccagc taccaggagc cccatctgcc ccgccaggta
      781 tttgtgaaat gtcactttga ctatgacccg gcccgagaca gcctcatccc ctgcaaggaa
      841 gcaggcctgc gcttcaacgc cggggacttg ctccagatcg taaaccagga tgatgccaac
      901 tggtggcagg catgccatgt cgaagggggc agtgctgggc tcattcccag ccagctgctg
      961 gaggagaagc ggaaagcatt tgtcaagagg gacctggagc tgacaccaaa ctcagggacc
     1021 ctatgcggca gcctttcagg aaagaaaaag aagcgaatga tgtatttgac caccaagaat
     1081 gcagagtttg accgtcatga gctgctcatt tatgaggagg tggcccgcat gcccccgttc
     1141 cgccggaaaa ccctggtact gattggggct cagggcgtgg gacggcgcag cctgaagaac
     1201 aagctcatca tgtgggatcc agatcgctat ggcaccacgg tgccctacac ctcccggcgg
     1261 ccgaaagact cagagcggga aggtcagggt tacagctttg tgtcccgtgg ggagatggag
     1321 gctgacgtcc gtgctgggcg ctacctggag catggcgaat acgagggcaa cctgtatggc
     1381 acacgtattg actccatccg gggcgtggtc gctgctggga aggtgtgcgt gctggatgtc
     1441 aacccccagg cggtgaaggt gctacgaacg gccgagtttg tcccttacgt ggtgttcatc
     1501 gaggccccag acttcgagac cctgcgggcc atgaacaggg ctgcgctgga gagtggaata
     1561 tccaccaagc agctcacgga ggcggacctg agacggacag tggaggagag cagccgcatc
     1621 cagcggggct acgggcacta ctttgacctc tgcctggtca atagcaacct ggagaggacc
     1681 ttccgcgagc tccagacagc catggagaag ctacggacag agccccagtg ggtgcctgtc
     1741 agctgggtgt actgagcctg ttcacctggt ctttggctca ctctgtgttg aaacccagaa
     1801 cctgaatcca tccccctcct gacctgtgac cccctgccac aatccttagc ccccatatct
     1861 ggctgtcctt gggtaacagc tcccagcagg ccctaagtct ggcttcagca cagaggcgtg
     1921 cactgccagg gaggtgggca ttcatggggt accttgtgcc caggtgctgc ccactcctga
     1981 tgcccattgg tcaccagata tctctgaggg ccaagctatg cccaggaatg tgtcagagtc
     2041 acctccataa tggtcagtac agagaagaga aaagctgctt tgggaccaca tggtcagtag
     2101 gcacactgcc ccctgccacc cctccccagt caccagttct cctctggact ggccacaccc
     2161 accccattcc tggactcctc ccacctctca cccctgtgtc ggaggaacag gccttgggct
     2221 gtttccgtgt gaccagggga atgtgtggcc cgctggcagc caggcaggcc cgggtggtgg
     2281 tgccagcctg gtgccatctt gaaggctgga ggagtcagag tgagagctag tggccacagc
     2341 tgcagagcac tgcagctccc agctcctttg gaaagggaca gggtcgcagg gcagatgctg
     2401 ctcggtcctt ccctcatcca cagcttctca ctgccgaagt ttctccagat ttctccaatg
     2461 tgtcctgaca ggtcagccct gctccccaca gggccaggct ggcaggggcc agtgggctca
     2521 gcccaggtag gggcaggatg gagggctgag ccctgtgaca acctgctgtt accaactgaa
     2581 gagccccaag ctctccatgg cccacagcag gcacaggtct gagctctatg tccttgacct
     2641 tggtccattt ggttttctgt ctagccaggt ccaggtagcc cacttgcatc agggctgctg
     2701 ggttggaggg gctaaggagg agtgcagagg ggaccttggg agcctgggct tgaaggacag
     2761 ttgccctcca ggaggttcct cacacacaac tccagaggcg ccatttacac tgtagtctgt
     2821 acaacctgtg gttccacgtg catgttcggc acctgtctgt gcctctggca ccaggttgtg
     2881 tgtatgtgtg tgcgtgtgca cgtgcgtgtg tgtgtgtgtg tgtcaggttt aatttgggga
     2941 ggaagcaaag ggttttgttt tggaggtcac tctttggggc ccctttctgg gggttcccca
     3001 tcagccctca tttcttataa taccctgatc ccagactcca aagccctggt cctttcctga
     3061 tgtctcctcc cttgtcttat tgtcccccta ccctaaatgc ccccctgcca taacttgggg
     3121 agggcagttt tgtaaaatag gagactccct ttaagaaaga atgctgtcct agatgtactt
     3181 gggcatctca tccttcatta ttctctgcat tccttccggg gggagcctgt cctcagaggg
     3241 gacaacctgt gacaccctga gtccaaaccc ttgtgcctcc cagttcttcc aagtgtctaa
     3301 ctagtcttcg ctgcagcgtc agccaaagct ggcccctgaa ccactgtgtg cccatttcct
     3361 agggaagggg aaggagaata aacagaatat ttattacaaa tgttagaata tatttcttat
     3421 actaggaatc tcatttgcat ttgcatagac tatacacatg gggtggaaag gccaggcctg
     3481 cccccatctc gttggtgtgg ctctgcgtat actacacact cattctcctg ctcctctttt
     3541 cccttagtca gtgtcctttc atcctgattc agctctgcct tgcatcaccc tcagcctaag
     3601 ggagtgggaa ggaaatgggg tgttttcttg ctgacctgag gctatagggt cacttgccat
     3661 ttcctacctt ctctggggga tttgagggta gaggcagggg aagatctgtt gttgcagctg
     3721 cttctgcccc cttgatccaa atgaccatca tctctgatgg agatgggttg ggtacctggc
     3781 cttcatggca ccttcactgc tagggatgct caaggggcag gcctggggcc cttccctcct
     3841 gtctcttctc ggtctttcct ctctgagcag cctcctacct cccctgcctg agccctcact
     3901 ccacagccct cccaggtacc tagcagaggc tgtcagtcct tggctcacct ggaacagggc
     3961 tggggctggg ttggaacagg tgtgtgcccc caccacagct ctatgactct gttctccctc
     4021 cctgccattg tggactcttg tatttgaggg acctcaagag agtgaggacc ctaccatcca
     4081 ctgtccatat tcagtcccag ccccagtgcg cttcctctgt tccctccctc agccatccaa
     4141 ttcttgagtt ttctcactga ttggttttct ttctttttcc ttggattaaa tgtgaaagca
     4201 aa
//
