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    Pomt2 protein-O-mannosyltransferase 2 [ Mus musculus (house mouse) ]

    Gene ID: 217734, updated on 12-May-2019

    Summary

    Official Symbol
    Pomt2provided by MGI
    Official Full Name
    protein-O-mannosyltransferase 2provided by MGI
    Primary source
    MGI:MGI:2444430
    See related
    Ensembl:ENSMUSG00000034126
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    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]
    Expression
    Ubiquitous expression in testis adult (RPKM 22.8), ovary adult (RPKM 9.2) and 28 other tissues See more
    Orthologs

    Genomic context

    See Pomt2 in Genome Data Viewer
    Location:
    12; 12 D2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 12 NC_000078.6 (87106861..87147968, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 12 NC_000078.5 (88447816..88488852, complement)

    Chromosome 12 - NC_000078.6Genomic Context describing neighboring genes Neighboring gene transmembrane protein 63c Neighboring gene crumbs homolog 1 pseudogene Neighboring gene neuroglobin Neighboring gene predicted gene 6566 Neighboring gene glutathione transferase zeta 1 (maleylacetoacetate isomerase) Neighboring gene predicted gene, 40496 Neighboring gene transmembrane p24 trafficking protein 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Clone Names

    • A830009D15Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    dolichyl-phosphate-mannose-protein mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mannosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity, transferring glycosyl groups IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ER-associated misfolded protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of protein O-linked glycosylation ISO
    Inferred from Sequence Orthology
    more info
     
    protein O-linked glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein O-linked mannosylation ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein O-mannosyl-transferase 2
    Names
    dolichyl-phosphate-mannose--protein mannosyltransferase 2
    NP_700464.2
    XP_011242390.2
    XP_011242391.2
    XP_011242392.2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_153415.4NP_700464.2  protein O-mannosyl-transferase 2

      See identical proteins and their annotated locations for NP_700464.2

      Status: REVIEWED

      Source sequence(s)
      AK076813, BC079589
      Consensus CDS
      CCDS26070.1
      UniProtKB/Swiss-Prot
      Q8BGQ4
      Related
      ENSMUSP00000035260.4, ENSMUST00000037788.5
      Conserved Domains (4) summary
      smart00472
      Location:474529
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:134820
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:132376
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:608818
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000078.6 Reference GRCm38.p4 C57BL/6J

      Range
      87106861..87147968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011244088.2XP_011242390.2  protein O-mannosyl-transferase 2 isoform X1

    2. XM_011244089.2XP_011242391.2  protein O-mannosyl-transferase 2 isoform X2

    3. XM_011244090.2XP_011242392.2  protein O-mannosyl-transferase 2 isoform X3

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