LOCUS       NM_001278370            4309 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens MAGUK p55 scaffold protein 2 (MPP2), transcript
            variant 1, mRNA.
ACCESSION   NM_001278370
VERSION     NM_001278370.2
KEYWORDS    RefSeq.
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 4309)
  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 4309)
  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 4309)
  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 4309)
  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 4309)
  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 4309)
  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 4309)
  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 4309)
  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
            DC321822.1, AK295858.1, AC007993.15 and AL136554.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001278370.1.
            
            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 (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK295858.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DC321822.1         2-12
            12-17               AK295858.1         1-6
            18-18               AC007993.15        91826-91826
            19-583              AK295858.1         8-572
            584-584             AC007993.15        118545-118545
            585-727             AK295858.1         574-716
            728-728             AC007993.15        119080-119080
            729-1878            AK295858.1         718-1867
            1879-1879           AC007993.15        123730-123730
            1880-1907           AK295858.1         1869-1896
            1908-3507           AC007993.15        123759-125358
            3508-3824           AL136554.1         3382-3698
            3825-3825           AC007993.15        125676-125676
            3826-4309           AL136554.1         3700-4183
FEATURES             Location/Qualifiers
     source          1..4309
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..4309
                     /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..170
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1862
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /note="isoform 1 is encoded by transcript variant 1; 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 1"
                     /protein_id="NP_001265299.1"
                     /db_xref="CCDS:CCDS62210.1"
                     /db_xref="GeneID:4355"
                     /db_xref="HGNC:HGNC:7220"
                     /db_xref="MIM:600723"
                     /translation="MSWAPPPQVGQNLRSQTVLRILNGMEDLMWVAMEERRFRALASF
                     TMPVAATNSETAMQQVLDNLGSLPSATGAAELDLIFLRGIMESPIVRSLAKAHERLEE
                     TKLEAVRDNNLELVQEILRDLAQLAEQSSTAAELAHILQEPHFQSLLETHDSVASKTY
                     ETPPPSPGLDPTFSNQPVPPDAVRMVGIRKTAGEHLGVTFRVEGGELVIARILHGGMV
                     AQQGLLHVGDIIKEVNGQPVGSDPRALQELLRNASGSVILKILPSYQEPHLPRQVFVK
                     CHFDYDPARDSLIPCKEAGLRFNAGDLLQIVNQDDANWWQACHVEGGSAGLIPSQLLE
                     EKRKAFVKRDLELTPNSGTLCGSLSGKKKKRMMYLTTKNAEFDRHELLIYEEVARMPP
                     FRRKTLVLIGAQGVGRRSLKNKLIMWDPDRYGTTVPYTSRRPKDSEREGQGYSFVSRG
                     EMEADVRAGRYLEHGEYEGNLYGTRIDSIRGVVAAGKVCVLDVNPQAVKVLRTAEFVP
                     YVVFIEAPDFETLRAMNRAALESGISTKQLTEADLRRTVEESSRIQRGYGHYFDLCLV
                     NSNLERTFRELQTAMEKLRTEPQWVPVSWVY"
     exon            171..234
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            235..353
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            354..506
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            507..656
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            657..884
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            885..1016
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1122
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1123..1191
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1353
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1556
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1557..1685
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1686..4309
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3484..3489
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /note="hexamer: AATAAA"
     polyA_site      3507
                     /gene="MPP2"
                     /gene_synonym="DLG2"
     regulatory      4292..4297
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /note="hexamer: ATTAAA"
     polyA_site      4309
                     /gene="MPP2"
                     /gene_synonym="DLG2"
                     /note="major polyA site"
ORIGIN      
        1 ttctgcaagg cctttattag agagatactt gttgaccgac gaatgcagtg gggcagccgc
       61 taagaataat gagttgggct ccacctcccc aggtgggcca gaatctgaga tcccagactg
      121 tcctgaggat cctaaatgga atggaagatt tgatgtgggt cgctatggag gagagacgtt
      181 tcagagccct tgcctccttc accatgccgg ttgccgccac caactctgaa actgccatgc
      241 agcaagtcct ggacaacttg ggatccctcc ccagtgccac gggggctgca gagctggacc
      301 tgatcttcct tcgaggcatt atggaaagtc ccatagtaag atccctggcc aaggcccatg
      361 agaggctgga ggagacgaag ctggaggccg tgagagacaa caacctggag ctggtgcagg
      421 agatcctgcg ggacctggcg cagctggctg agcagagcag cacagccgcc gagctggccc
      481 acatcctcca ggagccccac ttccagtccc tcctggagac gcacgactct gtggcctcaa
      541 agacctatga gacaccaccc cccagccctg gcctggaccc tacattcagc aaccagcctg
      601 tacctcccga tgctgtgcgc atggtgggca tccgcaagac agccggagaa catctgggtg
      661 taacgttccg cgtggagggc ggcgagctgg tgatcgcgcg cattctgcat gggggcatgg
      721 tggctcaaca aggcctgctg catgtgggtg acatcatcaa ggaggtgaac gggcagccag
      781 tgggcagtga cccccgcgca ctgcaggagc tcctgcgcaa tgccagtggc agtgtcatcc
      841 tcaagatcct gcccagctac caggagcccc atctgccccg ccaggtattt gtgaaatgtc
      901 actttgacta tgacccggcc cgagacagcc tcatcccctg caaggaagca ggcctgcgct
      961 tcaacgccgg ggacttgctc cagatcgtaa accaggatga tgccaactgg tggcaggcat
     1021 gccatgtcga agggggcagt gctgggctca ttcccagcca gctgctggag gagaagcgga
     1081 aagcatttgt caagagggac ctggagctga caccaaactc agggacccta tgcggcagcc
     1141 tttcaggaaa gaaaaagaag cgaatgatgt atttgaccac caagaatgca gagtttgacc
     1201 gtcatgagct gctcatttat gaggaggtgg cccgcatgcc cccgttccgc cggaaaaccc
     1261 tggtactgat tggggctcag ggcgtgggac ggcgcagcct gaagaacaag ctcatcatgt
     1321 gggatccaga tcgctatggc accacggtgc cctacacctc ccggcggccg aaagactcag
     1381 agcgggaagg tcagggttac agctttgtgt cccgtgggga gatggaggct gacgtccgtg
     1441 ctgggcgcta cctggagcat ggcgaatacg agggcaacct gtatggcaca cgtattgact
     1501 ccatccgggg cgtggtcgct gctgggaagg tgtgcgtgct ggatgtcaac ccccaggcgg
     1561 tgaaggtgct acgaacggcc gagtttgtcc cttacgtggt gttcatcgag gccccagact
     1621 tcgagaccct gcgggccatg aacagggctg cgctggagag tggaatatcc accaagcagc
     1681 tcacggaggc ggacctgaga cggacagtgg aggagagcag ccgcatccag cggggctacg
     1741 ggcactactt tgacctctgc ctggtcaata gcaacctgga gaggaccttc cgcgagctcc
     1801 agacagccat ggagaagcta cggacagagc cccagtgggt gcctgtcagc tgggtgtact
     1861 gagcctgttc acctggtctt tggctcactc tgtgttgaaa cccagaacct gaatccatcc
     1921 ccctcctgac ctgtgacccc ctgccacaat ccttagcccc catatctggc tgtccttggg
     1981 taacagctcc cagcaggccc taagtctggc ttcagcacag aggcgtgcac tgccagggag
     2041 gtgggcattc atggggtacc ttgtgcccag gtgctgccca ctcctgatgc ccattggtca
     2101 ccagatatct ctgagggcca agctatgccc aggaatgtgt cagagtcacc tccataatgg
     2161 tcagtacaga gaagagaaaa gctgctttgg gaccacatgg tcagtaggca cactgccccc
     2221 tgccacccct ccccagtcac cagttctcct ctggactggc cacacccacc ccattcctgg
     2281 actcctccca cctctcaccc ctgtgtcgga ggaacaggcc ttgggctgtt tccgtgtgac
     2341 caggggaatg tgtggcccgc tggcagccag gcaggcccgg gtggtggtgc cagcctggtg
     2401 ccatcttgaa ggctggagga gtcagagtga gagctagtgg ccacagctgc agagcactgc
     2461 agctcccagc tcctttggaa agggacaggg tcgcagggca gatgctgctc ggtccttccc
     2521 tcatccacag cttctcactg ccgaagtttc tccagatttc tccaatgtgt cctgacaggt
     2581 cagccctgct ccccacaggg ccaggctggc aggggccagt gggctcagcc caggtagggg
     2641 caggatggag ggctgagccc tgtgacaacc tgctgttacc aactgaagag ccccaagctc
     2701 tccatggccc acagcaggca caggtctgag ctctatgtcc ttgaccttgg tccatttggt
     2761 tttctgtcta gccaggtcca ggtagcccac ttgcatcagg gctgctgggt tggaggggct
     2821 aaggaggagt gcagagggga ccttgggagc ctgggcttga aggacagttg ccctccagga
     2881 ggttcctcac acacaactcc agaggcgcca tttacactgt agtctgtaca acctgtggtt
     2941 ccacgtgcat gttcggcacc tgtctgtgcc tctggcacca ggttgtgtgt atgtgtgtgc
     3001 gtgtgcacgt gcgtgtgtgt gtgtgtgtgt caggtttaat ttggggagga agcaaagggt
     3061 tttgttttgg aggtcactct ttggggcccc tttctggggg ttccccatca gccctcattt
     3121 cttataatac cctgatccca gactccaaag ccctggtcct ttcctgatgt ctcctccctt
     3181 gtcttattgt ccccctaccc taaatgcccc cctgccataa cttggggagg gcagttttgt
     3241 aaaataggag actcccttta agaaagaatg ctgtcctaga tgtacttggg catctcatcc
     3301 ttcattattc tctgcattcc ttccgggggg agcctgtcct cagaggggac aacctgtgac
     3361 accctgagtc caaacccttg tgcctcccag ttcttccaag tgtctaacta gtcttcgctg
     3421 cagcgtcagc caaagctggc ccctgaacca ctgtgtgccc atttcctagg gaaggggaag
     3481 gagaataaac agaatattta ttacaaatgt tagaatatat ttcttatact aggaatctca
     3541 tttgcatttg catagactat acacatgggg tggaaaggcc aggcctgccc ccatctcgtt
     3601 ggtgtggctc tgcgtatact acacactcat tctcctgctc ctcttttccc ttagtcagtg
     3661 tcctttcatc ctgattcagc tctgccttgc atcaccctca gcctaaggga gtgggaagga
     3721 aatggggtgt tttcttgctg acctgaggct atagggtcac ttgccatttc ctaccttctc
     3781 tgggggattt gagggtagag gcaggggaag atctgttgtt gcagctgctt ctgccccctt
     3841 gatccaaatg accatcatct ctgatggaga tgggttgggt acctggcctt catggcacct
     3901 tcactgctag ggatgctcaa ggggcaggcc tggggccctt ccctcctgtc tcttctcggt
     3961 ctttcctctc tgagcagcct cctacctccc ctgcctgagc cctcactcca cagccctccc
     4021 aggtacctag cagaggctgt cagtccttgg ctcacctgga acagggctgg ggctgggttg
     4081 gaacaggtgt gtgcccccac cacagctcta tgactctgtt ctccctccct gccattgtgg
     4141 actcttgtat ttgagggacc tcaagagagt gaggacccta ccatccactg tccatattca
     4201 gtcccagccc cagtgcgctt cctctgttcc ctccctcagc catccaattc ttgagttttc
     4261 tcactgattg gttttctttc tttttccttg gattaaatgt gaaagcaaa
//
