LOCUS       NM_153415               5082 bp    mRNA    linear   ROD 11-SEP-2024
DEFINITION  Mus musculus protein-O-mannosyltransferase 2 (Pomt2), mRNA.
ACCESSION   NM_153415
VERSION     NM_153415.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 5082)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5082)
  AUTHORS   Lommel,M., Winterhalter,P.R., Willer,T., Dahlhoff,M.,
            Schneider,M.R., Bartels,M.F., Renner-Muller,I., Ruppert,T., Wolf,E.
            and Strahl,S.
  TITLE     Protein O-mannosylation is crucial for E-cadherin-mediated cell
            adhesion
  JOURNAL   Proc Natl Acad Sci U S A 110 (52), 21024-21029 (2013)
   PUBMED   24297939
REFERENCE   3  (bases 1 to 5082)
  AUTHORS   Yagi,H., Nakagawa,N., Saito,T., Kiyonari,H., Abe,T., Toda,T.,
            Wu,S.W., Khoo,K.H., Oka,S. and Kato,K.
  TITLE     AGO61-dependent GlcNAc modification primes the formation of
            functional glycans on alpha-dystroglycan
  JOURNAL   Sci Rep 3, 3288 (2013)
   PUBMED   24256719
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5082)
  AUTHORS   Li,J., Yu,M., Feng,G., Hu,H. and Li,X.
  TITLE     Breaches of the pial basement membrane are associated with
            defective dentate gyrus development in mouse models of congenital
            muscular dystrophies
  JOURNAL   Neurosci Lett 505 (1), 19-24 (2011)
   PUBMED   21970971
REFERENCE   5  (bases 1 to 5082)
  AUTHORS   Hu,H., Li,J., Gagen,C.S., Gray,N.W., Zhang,Z., Qi,Y. and Zhang,P.
  TITLE     Conditional knockout of protein O-mannosyltransferase 2 reveals
            tissue-specific roles of O-mannosyl glycosylation in brain
            development
  JOURNAL   J Comp Neurol 519 (7), 1320-1337 (2011)
   PUBMED   21452199
  REMARK    GeneRIF: Data show that POMT2 deletion in the meninges did not
            disrupt the development of the neocortex, and suggest that normal
            brain development requires protein O-mannosylation activity in
            neural tissue but not the meninges.
REFERENCE   6  (bases 1 to 5082)
  AUTHORS   Lommel,M., Willer,T. and Strahl,S.
  TITLE     POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but
            not testis-specific tPOMT2, is crucial for mannosyltransferase
            activity in vivo
  JOURNAL   Glycobiology 18 (8), 615-625 (2008)
   PUBMED   18490429
  REMARK    GeneRIF: testis POMT2 is highly conserved among mammals, including
            humans, suggesting a crucial function that is distinct from somatic
            POMT2
REFERENCE   7  (bases 1 to 5082)
  AUTHORS   Prados,B., Pena,A., Cotarelo,R.P., Valero,M.C. and Cruces,J.
  TITLE     Expression of the murine Pomt1 gene in both the developing brain
            and adult muscle tissues and its relationship with clinical aspects
            of Walker-Warburg syndrome
  JOURNAL   Am J Pathol 170 (5), 1659-1668 (2007)
   PUBMED   17456771
REFERENCE   8  (bases 1 to 5082)
  AUTHORS   Willer,T., Prados,B., Falcon-Perez,J.M., Renner-Muller,I.,
            Przemeck,G.K., Lommel,M., Coloma,A., Valero,M.C., de Angelis,M.H.,
            Tanner,W., Wolf,E., Strahl,S. and Cruces,J.
  TITLE     Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in
            mouse results in embryonic lethality
  JOURNAL   Proc Natl Acad Sci U S A 101 (39), 14126-14131 (2004)
   PUBMED   15383666
REFERENCE   9  (bases 1 to 5082)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   10 (bases 1 to 5082)
  AUTHORS   Willer,T., Amselgruber,W., Deutzmann,R. and Strahl,S.
  TITLE     Characterization of POMT2, a novel member of the PMT protein
            O-mannosyltransferase family specifically localized to the acrosome
            of mammalian spermatids
  JOURNAL   Glycobiology 12 (11), 771-783 (2002)
   PUBMED   12460945
  REMARK    GeneRIF: molecular cloning and characterization
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK076813.1 and BC079589.1.
            
            On Sep 19, 2015 this sequence version replaced NM_153415.3.
            
            Summary: This gene encodes an integral membrane protein that
            belongs to the dolichyl-phosphate-mannose-protein
            mannosyltransferase family. The encoded enzyme is found in the
            membrane of the endoplasmic reticulum. This protein is a component
            of the protein O-mannosyltransferase enzyme complex which is
            involved in modification of the protein alpha-dystroglycan.
            Mutations in the human gene are a cause of different forms of
            muscular dystrophy-dystroglycanopathy (MDDG), type A2 (also known
            as Walker-Warburg syndrome), type B2 and type C2 (also known as
            limb-girdle muscular dystrophy). [provided by RefSeq, Sep 2015].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY090481.1, BC079589.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-202               AK076813.1         2-203
            203-430             AK076813.1         205-432
            431-5082            BC079589.1         1-4652
FEATURES             Location/Qualifiers
     source          1..5082
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 41.3 cM"
     gene            1..5082
                     /gene="Pomt2"
                     /note="protein-O-mannosyltransferase 2"
                     /db_xref="GeneID:217734"
                     /db_xref="MGI:MGI:2444430"
     exon            1..732
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..2737
                     /gene="Pomt2"
                     /EC_number="2.4.1.109"
                     /note="dolichyl-phosphate-mannose--protein
                     mannosyltransferase 2"
                     /codon_start=1
                     /product="protein O-mannosyl-transferase 2"
                     /protein_id="NP_700464.2"
                     /db_xref="CCDS:CCDS26070.1"
                     /db_xref="GeneID:217734"
                     /db_xref="MGI:MGI:2444430"
                     /translation="MLYASGRLLAARAATTLSAPPRARGPALRGKRRELQIPWHLETP
                     SYDPLTGQRTRPGVPPARRVILRKGRMPPAIGGGLAGSELRPRRGRCVPQAARAVSRD
                     VVPQAAARKLKRPAWSSRRFQAAGWWATLAVVTLLSFATRFHRLDQPAHICWDETHFG
                     KMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDRYEHHSYMGMRGFC
                     AFLGSWLIPFAYLTVLDLSKSFPAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAA
                     MLSMVKYNSCANRPFSAPWWFWLSLTGISLAGALGVKFVGLFIIVQVGLNTISDLWHL
                     FGDLSLSLVTVGKHLTARILCLIVLPLVLYVTIFAVHVMVLNKSGPGDGFFSSAFQAR
                     LSGNSLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKD
                     YNNLWIIKKYNANTDPLDPSFPVEFVRHGDIIRLEHKETTRNLHSHYHEAPLTRKHYQ
                     VTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRLIHLVTGCVLGSSGKILPKWG
                     WEQLEVTCTPYLKETTNSIWNIEEHINPKLPNISLDVLQPSFPEILLESHMVMIRGNN
                     GLKPKDNEFTSKPWHWPINYQGLRFSGANDTDFRVYLLGNPVVWWLNLVSIVLYLLSG
                     STIAVAMQRGIQLPAELQGLTKVLLRGGGQLLLGWMLHYFPFFLMGRILYFHHYFPAM
                     LFSSMLTGILWDTLLRLCAWGLAPSPLGRRIHAVGILSLLLTTAYSFYLFHPLAYGMV
                     GPLAQEPESPMAGLRWLESWDF"
     exon            733..817
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            818..922
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1031
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1140
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1300
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            1301..1407
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1490
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..1600
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            1601..1667
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            1668..1737
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            1738..1816
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            1817..1968
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            1969..2060
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            2061..2137
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            2138..2209
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            2210..2269
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            2270..2375
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            2376..2516
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            2517..2631
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     exon            2632..5064
                     /gene="Pomt2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3085..3090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pomt2"
                     /note="hexamer: AAGAAA"
     polyA_site      3104
                     /gene="Pomt2"
                     /note="major polyA site"
     regulatory      5038..5043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pomt2"
                     /note="hexamer: AATAAA"
     polyA_site      5064
                     /gene="Pomt2"
ORIGIN      
        1 acagctcttc tccgcgtttc tcaggagaga ccctcatccc cggacgtggg gcacagacct
       61 tcccggcttg catctcgccc ggtcggccgg ccaagaaagt cagctctcgg gactagaaga
      121 tgactgaggc ctagcggggt ccagagagcg aaggttggac tagatggcct ccctccttcg
      181 ggctggcccc gcccccgccc cctgagctgc tgggagttgt agttcatgag ccgactcgag
      241 tttgtcagtc cttggtttcc ctccgcctcc cgcaatgctc tacgcctcag gccgcctctt
      301 agctgcccgg gcggccacca cactttccgc cccgcccaga gcccggggcc cggcgctccg
      361 cggcaaacgg agggaactac aaatcccatg gcacctcgag acgccttctt atgacccctt
      421 gacggggcag cggacaagac ccggcgtgcc tccggcccgg agggtgatcc ttcggaaggg
      481 gaggatgccg ccggccatag gcggtggcct agcgggctcc gagctgcgtc cccgtagggg
      541 ccgctgtgtg ccgcaggctg ccagagccgt gagccgagac gtggtccccc aggctgcagc
      601 acggaaactt aaacggcctg cttggagctc gcggcgcttc caggcggcag ggtggtgggc
      661 cacgttggct gtggtgacgc tgctgtcctt tgccacccgc tttcaccggc tggaccagcc
      721 tgctcacatc tgttgggatg agactcactt tggaaaaatg ggaagttact atattaaccg
      781 cacctttttc tttgatgtgc atccaccact gggaaagatg ctgatcggtc ttgctggcta
      841 cctgagcggg tatgatggta cctttctgtt ccagaagcct ggggacagat acgagcacca
      901 cagctacatg ggaatgagag gattctgtgc tttcctgggt tcctggctga tcccctttgc
      961 ctacctcacc gtactggatc tgtccaagtc cttcccagca gcactgctca ccgctgccct
     1021 tctcaccttt gacacaggat gcctcactct atcccagtac atcctccttg accccatcct
     1081 gatgttcttc atcatggcgg ccatgctgag catggtcaag tacaactcct gtgctaacag
     1141 gcctttctct gccccctggt ggttctggct cagcctgact ggcattagtc tcgctggtgc
     1201 tttaggggtc aaatttgttg gcctctttat catcgtgcaa gtggggttga acactatttc
     1261 agacctctgg catctgtttg gagacctcag cctttcactg gtgactgtgg ggaagcacct
     1321 aactgctcgc atcctgtgcc tcatagtgct gcctttggtg ctctatgtga ccatttttgc
     1381 tgttcatgtc atggtgctga ataaaagtgg tcctggtgat ggcttcttca gttctgcctt
     1441 tcaagcccgg ctttcaggga acagccttca caatgcttct atccctgaac acctggcgta
     1501 tggctctgta atcactgtga agaatctccg gatggccatt ggctacctgc actctcatag
     1561 gcacctctac cctgagggca ttggtgctcg ccagcagcag gttaccacct atttgcataa
     1621 ggactacaac aacttgtgga ttatcaagaa gtataatgcc aacacagatc ccctagaccc
     1681 ttcattccca gtggagtttg tcagacatgg agacatcata cgactagaac acaaagaaac
     1741 tactcggaac ctgcacagtc actatcatga ggctcccctg acccggaagc actatcaggt
     1801 cactggctat ggcataaatg ggacagggga ctcaaatgac ttctggcgga ttgaagttgt
     1861 aaatagaaaa tttgggaacc ggatcaaggt actgagaagt cgaattcgcc tcatccattt
     1921 ggtcacaggt tgtgtcctgg gatcgtcagg aaagattctg cctaagtggg gctgggagca
     1981 gttggaagtt acctgtactc cgtacctaaa agaaaccact aactccattt ggaacataga
     2041 agagcatatc aatcccaaat tgccaaacat cagcctggat gtgctgcagc ccagttttcc
     2101 tgagatcttg ctggagtctc acatggtcat gatccgggga aataatggcc tcaaacccaa
     2161 ggacaatgag ttcacatcca agccctggca ctggcctatc aattatcagg gcctgcgctt
     2221 ctcaggggcc aatgacacgg acttccgagt ctatctgctc ggcaaccctg tggtctggtg
     2281 gctgaatctg gtgagcattg tcctctacct cctctcgggg agcaccattg ctgtggctat
     2341 gcagagaggg atacaactgc ctgcagagtt gcaagggctg accaaggtgc tgctgcgagg
     2401 aggtggccag ctgctcctgg gatggatgct ccattacttc cctttcttct tgatgggccg
     2461 gatcctctac ttccaccact acttcccagc catgctcttt tccagcatgt tgacaggtat
     2521 cctatgggat actctcctgc ggctctgtgc ctggggcttg gccccttctc ccctgggtag
     2581 gaggatacat gcggtgggaa tcctgagcct gcttctgaca actgcctaca gcttctacct
     2641 cttccaccct ctggcttatg ggatggttgg tcccctagcc caggaacctg agagtccaat
     2701 ggcaggactg aggtggctgg aatcatggga cttttgaggc cactgccagg accccagcct
     2761 ggatccgggt tttatccagg gacacccagc tatgaagcca gattctggac ccttccagct
     2821 ccaagggagc tgcctgagga acccaaaaca ttctgctgcc cccaggacca aactctggga
     2881 aatagtcctg gacttaacta aatactaaaa agagccacag ccctgtctac agcacctgca
     2941 cggggcacgt gacctacagc actgctcggt gccagttcct gtgaagcaca aggaaagcag
     3001 gcatgagtgt cagagggtac atctgcccag tccctttgga gtgtgtagac catgtaactg
     3061 tggcagccaa gtgtcataaa ttccaagaaa tggtccaagg ttaacaggat attctctggt
     3121 atcttttcac attggatttg gtttcattta ggtttataag atccataaga aaattttcta
     3181 gtcttcagga gggttgagtg tgccgtccca ccccttgtgg tgttacagag gtacaacagg
     3241 taggaccatt aaacctttgc tgcccttctt ctcacatact tccagtgagg ctagccaatc
     3301 accctgagtt tcggggctgg ccttctgcta ctgcccacag tgtcttctat ggatacagtg
     3361 ctgcctggag tgtgtacagt gcactgggtg ccagcacaag ctggcagaga acttgtcagc
     3421 ctatggttgg ccttccttag gtttttggtc cctgttctgt gaactgggtg agtggaacac
     3481 acaccttggc tatgtaccca gtgtctgttt ctcactgtcc gtcccctttt ctctgcatct
     3541 gcctggctct gaggaccaag tcctgctggc ttacagagcc actgagtcag agcaaagacc
     3601 tgggggctaa gcatctactg agatgctgag gtaggtaagg ggtgctcaac ctgactggct
     3661 cgtgcttggc atttcttgct tggcattcct gtcttcacac ttccagccct ccctaataat
     3721 accctctttt gctttctggt catttcccta actttctggc atcgccttat catgtctttt
     3781 cccccaaaac ccagagcacc tgaacatgca tgacagcttt tactgtctac cacttaagct
     3841 cagagctgtt ccttcaattt ccttgcccat agggagtaaa aattttgtca taactaaatc
     3901 aacccaagtc cagtccatta gtctgcatcc ttcttttcag ctcaaaacaa aaaatttatt
     3961 tgatcctaga agattttggt atttcaaggc ttaatgaatt taccacagtc caccttccct
     4021 ctactgtagc tcttaatgac tctgacaggg tcagagttct ttaaagcatc ttcaggaggt
     4081 ggttgccacg gagactagaa actggtctca gggacaggct gtgctaccta cagagtggtg
     4141 gagagggaag ctgctgggct ttgcttgggc gttcagctga gcatcattaa tgttaataga
     4201 ggaaatgtag ccctgtcaag agcaaggcag agcagctaat tagatctgag acccactgac
     4261 catcctcacc cgtggctaca gccttttgac tcccctcctg cccccacacc ccagcaggaa
     4321 gtgcagcttg tgcacaaagt ctgggctgcc tgcttaattg cattgctggc agggactggg
     4381 gagctctgct ctcattgccc tccccaaccc ttgcctgcag gcccaggcag ggctggtttc
     4441 ttctgaccca gtgggggcac catgtgggta gattctcctg gagaggggat acaggaatct
     4501 gtgcttggct tttaacaagg tagcccatgg gacatctaac aggtggctaa ttttctctta
     4561 tgccttattt ctggaggcac tgttagaggg aaggaaccct agagtaacca gagggcagcc
     4621 tttagagcca gagtaggtag cagagtttag tgggctccta cgtgtccctc cctttagtgt
     4681 cacactgagg gcagaagggt ctcttcttat ttccaagtat gggaaaaagg tgccccccac
     4741 atagtccctc ttcttccata cccaaactgg cagatacttc tatggaaaaa aggccacttg
     4801 gtcacatcac taagtgctta ttctatttgg aagatggagg ggcagtgggc gctagggtgc
     4861 tgctttgcgt gtgggctgca gcccttggga actgacagag atgtggtcca tctcagccgg
     4921 ctggtgagaa ggaagatgtg ccaggcagcc taacacagcc agggtcttga cccaccacac
     4981 tttgtctttt ttttttttta aaactttcca gagataatca gagatcatta cttttgtaat
     5041 aaataactct tgttttcaat actaaaaaaa aaaaaaaaaa aa
//
