LOCUS       NM_016156               4495 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens myotubularin related protein 2 (MTMR2), transcript
            variant 1, mRNA.
ACCESSION   NM_016156 NM_003912
VERSION     NM_016156.6
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 4495)
  AUTHORS   Yao,Y., Lai,J., Yang,Y., Wang,G. and Lv,J.
  TITLE     An integrative analysis reveals the prognostic value and potential
            functions of MTMR2 in hepatocellular carcinoma
  JOURNAL   Sci Rep 13 (1), 18701 (2023)
   PUBMED   37907649
  REMARK    GeneRIF: An integrative analysis reveals the prognostic value and
            potential functions of MTMR2 in hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4495)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 4495)
  AUTHORS   Halperin,D., Sapir,A., Wormser,O., Drabkin,M., Yogev,Y., Dolgin,V.,
            Flusser,H. and Birk,O.S.
  TITLE     Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1
            disease: a case report
  JOURNAL   Neurogenetics 21 (4), 301-304 (2020)
   PUBMED   32488727
  REMARK    GeneRIF: Novel MTMR2 mutation causing severe Charcot-Marie-Tooth
            type 4B1 disease: a case report.
REFERENCE   4  (bases 1 to 4495)
  AUTHORS   Wang,J., He,A.L., Zhang,W.G., Cao,X.M., Chen,Y.X., Liu,J.,
            Zhao,W.H., Yang,Y., Wang,J.L., Liu,H.L. and Ma,X.R.
  TITLE     MTMR2 promotes the progression of NK/T cell lymphoma by targeting
            JAK1
  JOURNAL   Eur Rev Med Pharmacol Sci 24 (15), 8057-8066 (2020)
   PUBMED   32767332
  REMARK    GeneRIF: MTMR2 promotes the progression of NK/T cell lymphoma by
            targeting JAK1.
REFERENCE   5  (bases 1 to 4495)
  AUTHORS   Zhao,R., Qi,Y., Chen,J. and Zhao,Z.J.
  TITLE     FYVE-DSP2, a FYVE domain-containing dual specificity protein
            phosphatase that dephosphorylates phosphotidylinositol 3-phosphate
  JOURNAL   Exp Cell Res 265 (2), 329-338 (2001)
   PUBMED   11302699
REFERENCE   6  (bases 1 to 4495)
  AUTHORS   Bolino,A., Muglia,M., Conforti,F.L., LeGuern,E., Salih,M.A.,
            Georgiou,D.M., Christodoulou,K., Hausmanowa-Petrusewicz,I.,
            Mandich,P., Schenone,A., Gambardella,A., Bono,F., Quattrone,A.,
            Devoto,M. and Monaco,A.P.
  TITLE     Charcot-Marie-Tooth type 4B is caused by mutations in the gene
            encoding myotubularin-related protein-2
  JOURNAL   Nat Genet 25 (1), 17-19 (2000)
   PUBMED   10802647
REFERENCE   7  (bases 1 to 4495)
  AUTHORS   Laporte,J., Blondeau,F., Buj-Bello,A., Tentler,D., Kretz,C.,
            Dahl,N. and Mandel,J.L.
  TITLE     Characterization of the myotubularin dual specificity phosphatase
            gene family from yeast to human
  JOURNAL   Hum Mol Genet 7 (11), 1703-1712 (1998)
   PUBMED   9736772
REFERENCE   8  (bases 1 to 4495)
  AUTHORS   Laporte,J., Hu,L.J., Kretz,C., Mandel,J.L., Kioschis,P., Coy,J.F.,
            Klauck,S.M., Poustka,A. and Dahl,N.
  TITLE     A gene mutated in X-linked myotubular myopathy defines a new
            putative tyrosine phosphatase family conserved in yeast
  JOURNAL   Nat Genet 13 (2), 175-182 (1996)
   PUBMED   8640223
REFERENCE   9  (bases 1 to 4495)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301641
REFERENCE   10 (bases 1 to 4495)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB028996.1, BP358035.1,
            BX647997.1, DR762520.1, BX107577.1, AI360884.1 and GD143864.1.
            
            On Dec 4, 2019 this sequence version replaced NM_016156.5.
            
            Summary: This gene is a member of the myotubularin family of
            phosphoinositide lipid phosphatases. The encoded protein possesses
            phosphatase activity towards phosphatidylinositol-3-phosphate and
            phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a
            cause of Charcot-Marie-Tooth disease type 4B, an autosomal
            recessive demyelinating neuropathy. Alternatively spliced
            transcript variants encoding multiple isoforms have been found for
            this gene. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB028996.1, SRR11853564.5742.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465418 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000346299.10/ ENSP00000345752.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               AB028996.1         189-348
            161-233             BP358035.1         261-333
            234-1283            AB028996.1         422-1471
            1284-3222           BX647997.1         1349-3287
            3223-3901           DR762520.1         193-871
            3902-4121           BX107577.1         1-220               c
            4122-4493           AI360884.1         1-372               c
            4494-4495           GD143864.1         70-71
FEATURES             Location/Qualifiers
     source          1..4495
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q21"
     gene            1..4495
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /note="myotubularin related protein 2"
                     /db_xref="GeneID:8898"
                     /db_xref="HGNC:HGNC:7450"
                     /db_xref="MIM:603557"
     exon            1..233
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     CDS             154..2085
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /EC_number="3.1.3.95"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphatidylinositol-3-phosphate phosphatase;
                     phosphatidylinositol-3,5-bisphosphate 3-phosphatase;
                     phosphatidylinositol-3-phosphatase;
                     phosphoinositide-3-phosphatase;
                     phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2"
                     /codon_start=1
                     /product="phosphatidylinositol-3,5-bisphosphate
                     3-phosphatase MTMR2 isoform 1"
                     /protein_id="NP_057240.3"
                     /db_xref="CCDS:CCDS8305.1"
                     /db_xref="GeneID:8898"
                     /db_xref="HGNC:HGNC:7450"
                     /db_xref="MIM:603557"
                     /translation="MEKSSSCESLGSQPAAARPPSVDSLSSASTSHSENSVHTKSASV
                     VSSDSISTSADNFSPDLRVLRESNKLAEMEEPPLLPGENIKDMAKDVTYICPFTGAVR
                     GTLTVTNYRLYFKSMERDPPFVLDASLGVINRVEKIGGASSRGENSYGLETVCKDIRN
                     LRFAHKPEGRTRRSIFENLMKYAFPVSNNLPLFAFEYKEVFPENGWKLYDPLLEYRRQ
                     GIPNESWRITKINERYELCDTYPALLVVPANIPDEELKRVASFRSRGRIPVLSWIHPE
                     SQATITRCSQPMVGVSGKRSKEDEKYLQAIMDSNAQSHKIFIFDARPSVNAVANKAKG
                     GGYESEDAYQNAELVFLDIHNIHVMRESLRKLKEIVYPNIEETHWLSNLESTHWLEHI
                     KLILAGALRIADKVESGKTSVVVHCSDGWDRTAQLTSLAMLMLDGYYRTIRGFEVLVE
                     KEWLSFGHRFQLRVGHGDKNHADADRSPVFLQFIDCVWQMTRQFPTAFEFNEYFLITI
                     LDHLYSCLFGTFLCNSEQQRGKENLPKRTVSLWSYINSQLEDFTNPLYGSYSNHVLYP
                     VASMRHLELWVGYYIRWNPRMKPQEPIHNRYKELLAKRAELQKKVEELQREISNRSTS
                     SSERASSPAQCVTPVQTVV"
     exon            234..339
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            340..415
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            416..510
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            511..621
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            622..723
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            724..807
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            808..957
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1146
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1332
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1539
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1540..1632
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1633..1746
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1747..1923
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     exon            1924..4495
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3255..3260
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /note="hexamer: ATTAAA"
     regulatory      3260..3265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /note="hexamer: AAGAAA"
     polyA_site      3275
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /note="major polyA site"
     polyA_site      3287
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
     regulatory      4473..4478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
                     /note="hexamer: AATAAA"
     polyA_site      4495
                     /gene="MTMR2"
                     /gene_synonym="CMT4B; CMT4B1"
ORIGIN      
        1 gcactctggg ggaacatggc cgcttccggt ctccctcccg ggccggcgct ggcctgactg
       61 cggccccggt ccgtagcact ccgccctccg cttctcccgc cctgtagccg cgaagactgc
      121 ttcagccttt ccctgtgctg cccctgccgc gcgatggaga agagctcgag ctgcgagagt
      181 cttggctccc agccggcggc ggctcggccg cccagcgtgg actccttgtc cagtgcctcc
      241 acttctcatt cagagaattc agtgcataca aaatcagctt ctgttgtatc atcagattcc
      301 atttcaactt ctgccgacaa cttttctcct gatttgaggg tcctgaggga gtctaacaag
      361 ttagcagaaa tggaagaacc acccttgctt ccaggagaaa atattaaaga catggccaaa
      421 gatgtaactt atatatgtcc attcactggc gctgtacgag gaactctgac tgtcacgaat
      481 tataggttat atttcaaaag catggaacgg gatcccccat ttgttttaga tgcttccctt
      541 ggtgtgataa atagagtaga aaaaattggt ggtgcttcta gtcgaggtga aaattcttat
      601 ggactagaaa ctgtgtgtaa ggatattagg aatttacgat ttgctcataa acctgagggg
      661 cggacaagaa gatccatatt tgagaatcta atgaaatatg catttcctgt ctctaataac
      721 ctgcctcttt ttgcttttga atacaaagaa gtattccctg aaaatgggtg gaagctatat
      781 gaccctcttt tagagtatag aaggcaggga attccaaatg aaagctggag aataacaaag
      841 ataaatgaac gatatgaact ttgtgataca taccctgccc tcctggttgt gccagcaaat
      901 attcctgatg aagaattaaa gagagtggca tccttcagat caagaggccg tatcccagtt
      961 ttatcatgga ttcatcctga aagtcaagcc acaatcactc ggtgtagcca gcccatggtt
     1021 ggagtgagtg gaaagcgaag caaagaagat gaaaaatacc ttcaagctat catggattcc
     1081 aatgcccagt ctcacaaaat ctttatattt gatgcccggc caagtgttaa tgctgttgcc
     1141 aacaaggcaa agggtggagg ttatgaaagt gaagatgcct atcaaaatgc tgaactagtt
     1201 ttcctggata tccacaatat tcatgttatg agagaatcat tacgaaaact taaggagatt
     1261 gtgtacccca acattgagga aacccactgg ttgtctaact tggaatctac tcattggcta
     1321 gaacatatta agcttattct tgcaggggct cttaggattg ctgacaaggt agagtcaggg
     1381 aagacgtctg tggtagtgca ttgcagtgat ggttgggatc gcacagctca gctcacttcc
     1441 cttgccatgc tcatgttgga tggatactat cgaaccatcc gaggatttga agtccttgtg
     1501 gagaaagaat ggctaagttt tggacatcga tttcaactaa gagttggcca tggagataag
     1561 aaccatgcag atgcagacag atcgcctgtt tttcttcaat ttattgactg tgtctggcag
     1621 atgacaagac agtttcctac cgcatttgaa ttcaatgagt attttctcat taccattttg
     1681 gaccacctat acagctgctt attcggaaca ttcctctgta atagtgaaca acagagagga
     1741 aaagagaatc ttcctaaaag gactgtgtca ctgtggtctt acataaacag ccagctggaa
     1801 gacttcacta atcctctcta tgggagctat tccaatcatg tcctttatcc agtagccagc
     1861 atgcgccacc tagagctctg ggtgggatat tacataaggt ggaatccacg gatgaaacca
     1921 caggaaccta ttcacaacag atacaaagaa cttcttgcta aacgagcaga gcttcagaaa
     1981 aaagtagagg aactacagag agagatttct aaccgatcaa cctcatcctc agagagagcc
     2041 agctctcctg cacagtgtgt cactcctgtc caaactgttg tataaaggac tgtaagatca
     2101 ggggcatcat tgctatacac tcttgattac actggcagct ctatgagtag aaagtcttcg
     2161 gaatttagaa cccatctatg agagaaagtt cagtcacttt atttatttta aatctctcta
     2221 ggatgagttt agaactgtag cagtgcaggt ggcttaagtg aagtaactcc atatgtaatt
     2281 acatgattat gatactaatc ttttaagtat ccaaagaata ttaaaatact tcaatcctgg
     2341 attcacagtg ggaacaagtt tctattaaaa ggcaaatgct gttacaaatt tttggcatct
     2401 ggtaatatta aaaccatttt agaaatacac tctgtgctca ctgtgcagag gaacatcagt
     2461 tttcaaacca acactgaaat tctgtggcat cacatatatt gggccttgat gtcatgacag
     2521 atcaaaatca tttgatatcc ctttctccat tctaggtttt tctttttttc agtaactgat
     2581 ttaccttgat cacttttcaa cttccatatt cttcatatag taaaaggcaa agtgttgaag
     2641 atactacggt gtggtagtag ttgaaaatta ttgccgtcat tatttacata cttaagacat
     2701 attagcaagt tgatccaaaa tgggaggcct tatagatgtg cttgggggaa aatgaagggg
     2761 agaaagtagc catacaggag ttcaaagaat tccatgccct tcagattagc ccaattacca
     2821 gaaacatcat gaaagatatt ttaaaaacta attatttact acagtgtatt tcacttgtct
     2881 tgtgtgtctg aacacacaga agctaattag caagttttta agaagtattt aaaaatctta
     2941 ctaggattga cattttttct gaattctgta taaatagctt atagtgagaa gtactgtgct
     3001 caaattttac atttttttcc tttgcaaatt ctgtaatttc actcaacgat taagtctacc
     3061 aaagaacaca ctgcatgtaa aagatgtatt acaatctcaa agccagtaaa agaaatcttg
     3121 cttcactgtt cacctgctac aagtaagagt ttggtgctgg tagaaacatt tgactctgat
     3181 gtctatttta ttctacataa gagccatatg taatgtactg taacaaagga gcttcttgtc
     3241 cccttggtct tttaattaaa agaaattcca actgactttt aaactttgtt cttgtccaaa
     3301 gttgccattt cttttttttc cccagaaata tttggaaatt attggaggaa tatgcacccc
     3361 agatgaaaat gttcagtttg tacccatttt tccttaacca acacccaaat caaacaatta
     3421 aaatatacag tgtttttcca ctcactaatt cactatacag agagtctgaa ccttagcctc
     3481 cctcttggtc ttgcagtgag gaagtttcta ttagtatatc caatttagca aaattggtac
     3541 caaaatgatt tctttggtaa ttgtgtgaaa tataagcttt ttaacagggc atttaagtgg
     3601 ctagcaaatc agtaattaaa aattaagctt tctactccaa gtatttcaca aacgcatctg
     3661 ccattttcct catttaaacc ttggttatct tggcctgata ccacataaaa gaatgtagaa
     3721 tggctgaaga gatcaagaat ttaaagcttc tagtcttaac atacttgcat ccacttcaaa
     3781 ttcaaatcaa aagccaggga aatctaagtg caaccctacc acttctctgc tgagaacctt
     3841 ccagtggttc ccctcacctt ctgcagaagt ctccaatatg gagtacatgc acttgggcat
     3901 ttaatatata ccactggtgt gtgtgggagg gagggaggag gaatactagc cctttttata
     3961 tatttacaca agcaaaactt ttaaatattt gaattgacag ttacatgttt cataactttg
     4021 tatgtctatt ggttgtgcag gtgtaatttt ttcccttttt gattagggtt acaaaattta
     4081 gagaccagta tgattaagtt gaagctcctt agcctccttc gacctagtct ctgcatacct
     4141 caacttttac gtaccaatgc tactctgctg ttcacaattg cctcatgtaa tctgcagatt
     4201 cctgcctccc cactttggtt cagtctgtct tgtgcacctg gaacaactgt tctcccttgt
     4261 gactaattcc tattttctag agtttaggca tcatctcttc ctttgggaag ttatctgatt
     4321 cacgactgcc ttctctgaca tccccacctt cctctgtgcc cccatagcac tgtgtatacc
     4381 gctactacca ctgcaattca cattatattg gaatgaacaa ttcacatgtc taccacaagt
     4441 ctgtaaacat aaccttattt gaaatgaatt gcaataaagc tctgttacaa cgtaa
//
