LOCUS       NM_138383               4979 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens MTSS I-BAR domain containing 2 (MTSS2), mRNA.
ACCESSION   NM_138383 XM_208937
VERSION     NM_138383.3
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 4979)
  AUTHORS   Huang,Y., Lemire,G., Briere,L.C., Liu,F., Wessels,M.W., Wang,X.,
            Osmond,M., Kanca,O., Lu,S., High,F.A., Walker,M.A., Rodan,L.H.,
            Kernohan,K.D., Sweetser,D.A., Boycott,K.M. and Bellen,H.J.
  CONSRTM   Undiagnosed Diseases Network; Care4Rare Canada Consortium
  TITLE     The recurrent de novo c.2011C>T missense variant in MTSS2 causes
            syndromic intellectual disability
  JOURNAL   Am J Hum Genet 109 (10), 1923-1931 (2022)
   PUBMED   36067766
  REMARK    GeneRIF: The recurrent de novo c.2011C>T missense variant in MTSS2
            causes syndromic intellectual disability.
            Erratum:[Am J Hum Genet. 2022 Nov 3;109(11):2092. doi:
            10.1016/j.ajhg.2022.10.001.. PMID: 36332614]
REFERENCE   2  (bases 1 to 4979)
  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 4979)
  AUTHORS   Di Fiore,B., Davey,N.E., Hagting,A., Izawa,D., Mansfeld,J.,
            Gibson,T.J. and Pines,J.
  TITLE     The ABBA motif binds APC/C activators and is shared by APC/C
            substrates and regulators
  JOURNAL   Dev Cell 32 (3), 358-372 (2015)
   PUBMED   25669885
  REMARK    GeneRIF: The ABBA motif in cyclin A is required for its proper
            degradation in prometaphase through competing with BUBR1 for the
            same site on CDC20
REFERENCE   4  (bases 1 to 4979)
  AUTHORS   Zheng,D., Niu,S., Yu,D., Zhan,X.H., Zeng,X., Cui,B., Chen,Y.,
            Yoon,J., Martin,S.S., Lu,X. and Zhan,X.
  TITLE     Abba promotes PDGF-mediated membrane ruffling through activation of
            the small GTPase Rac1
  JOURNAL   Biochem Biophys Res Commun 401 (4), 527-532 (2010)
   PUBMED   20875796
  REMARK    GeneRIF: these data indicates that the interaction between
            full-length Abba and Rac1 is implicated in membrane deformation and
            subjected to a growth factor-mediated regulation through the
            C-terminal sequence.
REFERENCE   5  (bases 1 to 4979)
  AUTHORS   Scita,G., Confalonieri,S., Lappalainen,P. and Suetsugu,S.
  TITLE     IRSp53: crossing the road of membrane and actin dynamics in the
            formation of membrane protrusions
  JOURNAL   Trends Cell Biol 18 (2), 52-60 (2008)
   PUBMED   18215522
  REMARK    Review article
REFERENCE   6  (bases 1 to 4979)
  AUTHORS   Yamagishi,A., Masuda,M., Ohki,T., Onishi,H. and Mochizuki,N.
  TITLE     A novel actin bundling/filopodium-forming domain conserved in
            insulin receptor tyrosine kinase substrate p53 and missing in
            metastasis protein
  JOURNAL   J Biol Chem 279 (15), 14929-14936 (2004)
   PUBMED   14752106
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020763.6, BU859607.1 and AB115770.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_138383.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript from the same
            breed was available for the full length of the gene. The extent of
            this transcript is supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB115770.1, SRR9304718.82476.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338779.11/ ENSP00000341171.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC020763.6         87646-87647
            3-719               BU859607.1         1-717
            720-2506            AB115770.1         458-2244
            2507-4979           AC020763.6         110023-112495
FEATURES             Location/Qualifiers
     source          1..4979
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..4979
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /note="MTSS I-BAR domain containing 2"
                     /db_xref="GeneID:92154"
                     /db_xref="HGNC:HGNC:25094"
                     /db_xref="MIM:616951"
     exon            1..331
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             263..2506
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /note="MTSS1-like protein; actin-bundling with BAIAP2
                     homology protein 1; metastasis suppressor 1-like; MTSS1L,
                     I-BAR domain containing"
                     /codon_start=1
                     /product="protein MTSS 2"
                     /protein_id="NP_612392.1"
                     /db_xref="CCDS:CCDS32476.1"
                     /db_xref="GeneID:92154"
                     /db_xref="HGNC:HGNC:25094"
                     /db_xref="MIM:616951"
                     /translation="METAEKECGALGGLFQAIVNDMKSSYPIWEDFNSKATKLHSQLR
                     TTVLAAVAFLDAFQKVADMATNTRGATRDIGSALTRMCMRHRSIETKLRQFTNALLES
                     LINPLQERIEDWKKAANQLDKDHAKEYKRARHEIKKKSSDTLKLQKKARKELLGKGDL
                     QPQLDSALQDVNDMYLLLEETEKQAVRRALIEERGRFCTFITFLQPVVNGELTMLGEI
                     THLQGIIDDLVVLTAEPHKLPPASEQVIKDLKGSDYSWSYQTPPSSPSSSSSRKSSMC
                     SAPSSSSSAKGGGAPWPGGAQTYSPSSTCRYRSLAQPATTTARLSSVSSHDSGFVSQD
                     ATYSKPPSPMPSDITSQKSSSSASSEASETCQSVSECSSPTSDWSKVGSHEQPSGATL
                     QRRKDRVELLRDTEPGPASGGTLGPSGEEAPRPRMSPATIAAKHGEEVSPAASDLAMV
                     LTRGLSLEHQKSSRDSLQYSSGYSTQTTTPSCSEDTIPSQGSDYDCYSVNGDADSEGP
                     PEFDKSSTIPRNSNIAQNYRRLIQTKRPASTAGLPTAGLPTATGLPSGAPPGVATIRR
                     TPSTKPTVRRALSSAGPIPIRPPIVPVKTPTVPDSPGYMGPTRAGSEECVFYTDETAS
                     PLAPDLAKASPKRLSLPNTAWGSPSPEAAGYPGAGAEDEQQQLAANRHSLVEKLGELV
                     AGAHALGEGQFPFPTALSATPTEETPTPPPAATSDPPAEDMLVAIRRGVRLRRTVTND
                     RSAPRIL"
     exon            332..393
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            394..467
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            468..552
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            553..644
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            645..719
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            720..728
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            729..886
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            887..994
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1092
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1315
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1390
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1567
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1568..1733
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..4979
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4956..4961
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /note="hexamer: AATAAA"
     polyA_site      4979
                     /gene="MTSS2"
                     /gene_synonym="ABBA; ABBA-1; ABBA1; IDDOF; MTSS1L"
                     /note="major polyA site"
ORIGIN      
        1 agtccccgcg ccgaggctgc gccgcgagct gcccgcgccg cgccccccgc gccgcccgcc
       61 agccccgctg cgacatggcc cgcgccgccc gccggaggcc cgcgaccccg gagcgcggcg
      121 cggccggccg ctgagcgcag cctggaggcg ggaggcccgg cccggcctcg gagcgagcgc
      181 ccgcgcggcc tggccccctc ccttgcgctg ctccccgcgc tccgtgcgcc tagccgccgc
      241 cgcggcccgg cccagccaga gcatggagac ggcggagaag gagtgcggcg ccctgggcgg
      301 gctcttccag gccatagtca acgacatgaa gagctcctac cctatctggg aggacttcaa
      361 ctccaaggcc acgaagctgc attcccagct gaggaccacc gtgctggctg ctgtggcctt
      421 cctggatgcc ttccagaaag tggctgacat ggctaccaac acccgagggg ccacgaggga
      481 catcggctcg gcgctcacac gcatgtgcat gcgccaccgc agcatcgaga ccaagctgcg
      541 gcagttcacc aacgcactgc tggagagcct catcaacccg ctgcaggagc gcatcgagga
      601 ctggaagaag gcggccaacc agctggacaa ggaccacgcg aaagagtaca aacgagcccg
      661 gcatgagatc aaaaagaagt cgtcggacac gctgaagctg cagaagaagg cgcgcaaaga
      721 gctacttggg aaaggagacc tgcagcccca gctggacagt gccctgcagg acgtcaacga
      781 catgtacctg ctgctggagg agacggagaa gcaggccgtg cgccgggcgc tgatcgagga
      841 gcggggccgc ttctgcacct tcatcacctt cctgcagcct gtggtgaatg gagagctgac
      901 catgctggga gagatcaccc acctgcaggg catcatcgac gacttggtgg tgctgacagc
      961 agaaccccac aaactgcctc ccgccagcga gcaggtaatc aaagacctaa agggctcgga
     1021 ctacagctgg tcctaccaga ccccaccctc atcacccagc agctccagct cccggaagtc
     1081 cagcatgtgc agtgccccca gcagcagtag cagtgccaag ggtggcggag ccccatggcc
     1141 tgggggtgcc caaacatact cacccagttc cacctgtcgc taccgcagcc tggcgcagcc
     1201 agccaccacc accgctcgcc tctccagcgt ttcctcccat gactctggct tcgtctccca
     1261 ggacgccacc tactccaagc ccccctcgcc tatgccttca gacatcacca gccagaagtc
     1321 ctccagctct gcatcttccg aggcctcgga aacctgccag tccgttagcg agtgcagctc
     1381 ccccacctcg gactggtcca aggtcggctc ccatgagcag ccctcaggcg ccactctgca
     1441 gcggaggaag gaccgagtgg agctcctgcg agacacagag ccaggccctg ccagtggggg
     1501 caccctgggc cccagcgggg aagaggcacc gcgaccccgg atgtcccctg ccaccatcgc
     1561 agccaagcac ggtgaggagg tgtcccccgc cgccagtgac ctggccatgg tgctgacgcg
     1621 gggcctgagc ctggagcacc agaagagcag ccgggactcg ctgcagtact ccagcggcta
     1681 cagcacgcag accaccacgc cctcctgctc tgaggacacc atcccctccc aaggctccga
     1741 ctacgactgc tactccgtga atggggatgc ggacagcgag ggcccgcccg agtttgacaa
     1801 gtcatccacc atcccgcgca acagcaacat cgcccagaac taccgccgcc tgatccagac
     1861 caagcgccca gcctccactg ctgggctgcc caccgcgggg ctgcccacgg ccactggcct
     1921 gccctcgggc gcaccccccg gcgtggccac catccgccgc acaccctcca ccaagcccac
     1981 cgtgcgccgc gccctgtcca gcgctggccc catccccatc cggccgccca tcgtccctgt
     2041 gaagacgccc acggtgcctg actcccccgg ctacatgggg cccacacggg cgggcagtga
     2101 ggagtgcgtc ttctataccg acgagaccgc ctcacccctg gcaccggacc tcgccaaggc
     2161 ctccccaaag aggctcagcc tgcccaacac agcctggggc agcccatccc cagaggcagc
     2221 cgggtacccc ggggcagggg ccgaggacga gcagcagcag ctggcggcca accggcacag
     2281 cctggtggag aagctggggg agctggtggc gggtgcccac gcactgggtg agggccagtt
     2341 ccccttcccc actgctctgt cggccacccc cacggaggag acgcccaccc cacccccagc
     2401 cgccaccagc gaccccccgg ccgaagacat gctggtggcc atccggcgtg gggtccggct
     2461 ccgcaggacc gtcaccaacg acaggtcggc gccccgcatc ttatgatggc gccaccctcc
     2521 ccatcctctc aggccccagt gcgagcaggt ggcctggtct gtgagccgca ggcactcaga
     2581 gcaaaggccc agccaggaga gaggacagag ccagggcaga ggccatgcca ctttatggaa
     2641 agacacctca cttggattcc agcatttaaa caggaagtga cttcttagca agcctggcca
     2701 ggacggagcc tgcaggcctg ggcctggttc ggggtctgtt ttatgctctt cggtccctcc
     2761 tcttcctcct ctggggccct gcctcttccc tacccataag caccagagcc agggccgctg
     2821 cccatgacag aggggccagg ctggcctccc tttcaccatc ccggcctctc ccagggctgg
     2881 tcctgcctca gctcctcctg gaatgctggc ccccctctcc cctgcctgag ccccctcctc
     2941 ccctcttgcc ttctctctgc ctctcccagg cccctctccc tccaggaggc ggggcggctg
     3001 tggaggggcc aggtgcacgc tgggctggat gtctgctggg ggctgggggc cagggcggca
     3061 ggttggagtt gggcggccag gccccccgtg tgggaaggga gttccagggc ccacgccaag
     3121 tctcagggag gaaaccaggg gctgcttggg ggggggggtc ttgggggccc tgtggtggct
     3181 cccacccctc gcctccccca ccccgtgagg ctggctggag ggggccagag cagctctttg
     3241 gaaactaggg cagcagggtt aggaggccgg aggccctggg gtcaccggcc agccacacag
     3301 gcaccgtttt cagatgtcca cttctcattg ggtacatcaa tcttttaact ttgggggtca
     3361 cagttttagc cacctttcgg ggggtgactg gagcagtagg aggtgtgggg tcattttatg
     3421 aatataataa aatggagctg actgtggacg aggactaagt gtgggggaga ggggacgata
     3481 cagggtgtgt gtctgggagt gcctggggga cagggacccc ccggtggtcc tatggcagga
     3541 tgagaaggga gggacttggc tcccccagag cccggtggaa gctactgttc tctccagtgt
     3601 ctcgagcgta gccaaaataa ggttgggagg ctcccggcct gtctgctgtg gtctgagctg
     3661 gctgcaagcc caggtggggg agcgagtctg ggaagattgg ctttgactct ctgttgccgg
     3721 aggagatgcc atcccagcac ggcccccact gtagtccagg ctcgtggtgg cagcgggggc
     3781 aaggggaggg gcaaggctgc ccccacccca cgcaccaagt cacgccaagt ctcagcaggt
     3841 aaaagcacgt gagcctaggg cgagcggagg gagtcctggt ggccccgcag gtcaggaggg
     3901 aaagcagggc tcagagggca tcgtggcccc agggcagggt cctacctggg ggtcaggagc
     3961 accttggtct tgatgattga ttgattgatt gatagaatgg agctgggtct gagcctccca
     4021 ggcttgagct cctgggagtt cttgtgcggt gagctgggca gctcctgggt aggtccgggc
     4081 accaagcagg ccctgatgtg gacagagtcc catcagaggg agctgatgaa gaatggtccc
     4141 tgtaagtaag tcactaggtt caacaactgc ctggccgagc actcagcccg tggagctcag
     4201 gccaacacca gagccccggt tttaggggcc aggagagcag gtgaccaatt atttggggag
     4261 tcttgggtag aatttccgcc acacattctc cccagggctg caggggtctt ccgaggcagg
     4321 gcggtggagc aggattcagg atgtggtggg aatagagtga ggggcagtgg gtgggcagac
     4381 ctgggcgtca gaggtcctga tgggaaagga ggcaggggct acccagagag gggggctcgt
     4441 gtggcacagc ccccaccgac tccgccgtcc ccctcccctg tgagccccgg gggctgtaca
     4501 tactctactc catccccttg tccatccctg agaccacccc cgccgccctt gcgtcgactt
     4561 agcaaccacc tcataggccc acccacctcg ggatccgagc caaccatccc acatcacaaa
     4621 ctttggtttg ggggacttta cgttcgttta atttctcatt ttgtacggag aaatattctt
     4681 ttcaaaagcg tcttttgact gaagtaactt tcctggtgct gttgttaact cgttcctttt
     4741 tttaatttat tcccccaccc caggcagccc tcctggttcc tactcaccct ccccccctcc
     4801 cccaccctcc gtcccatctg aaccatttgt ttcttttctt tccgtcagat tttggaaaaa
     4861 ttctcctctc ctccccgccc cctccacacc atcctccccg atttaaatat agtcactgct
     4921 acaagtaaca gatgcactgt gaagattcca gtattaataa aggtgtactg taattaaca
//
