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    Pomt2 protein-O-mannosyltransferase 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 688673, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pomt2provided by RGD
    Official Full Name
    protein-O-mannosyltransferase 2provided by RGD
    Primary source
    RGD:1586427
    See related
    EnsemblRapid:ENSRNOG00000012146 AllianceGenome:RGD:1586427
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable mannosyltransferase activity. Involved in positive regulation of protein O-linked glycosylation. Predicted to be located in cytosol; nucleolus; and nucleoplasm. Human ortholog(s) of this gene implicated in lissencephaly and muscular dystrophy (multiple). Orthologous to human POMT2 (protein O-mannosyltransferase 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 91.9), Testes (RPKM 71.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Pomt2 in Genome Data Viewer
    Location:
    6q31
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 6 NC_086024.1 (112486416..112525799, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 6 NC_051341.1 (106755462..106794849, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 6 NC_005105.4 (111137329..111176991, complement)

    Chromosome 6 - NC_086024.1Genomic Context describing neighboring genes Neighboring gene transmembrane protein 63c Neighboring gene neuroglobin Neighboring gene uncharacterized LOC134479237 Neighboring gene glutathione S-transferase zeta 1 Neighboring gene transmembrane p24 trafficking protein family member 8 Neighboring gene sterile alpha motif domain containing 15

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biancheri R, et al. Biochem Biophys Res Commun, 2007 Nov 30. PMID 17923109
    2. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Yanagisawa A, et al. Neurology, 2007 Sep 18. PMID 17634419
    3. Molecular cloning and characterization of rat Pomt1 and Pomt2. Manya H, et al. Glycobiology, 2006 Sep. PMID 16704966
    4. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. van Reeuwijk J, et al. J Med Genet, 2005 Dec. PMID 15894594, Free PMC Article
    5. Molecular heterogeneity in fetal forms of type II lissencephaly. Bouchet C, et al. Hum Mutat, 2007 Oct. PMID 17559086

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mannosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within basement membrane organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within dentate gyrus development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein O-linked mannosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within reactive gliosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein O-mannosyl-transferase 2
    NP_001040579.1
    XP_038968887.1

    NCBI Reference Sequences (RefSeq)

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    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_001047114.2 → NP_001040579.1  protein O-mannosyl-transferase 2

      See identical proteins and their annotated locations for NP_001040579.1

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000006
      UniProtKB/TrEMBL
      A0A9K3Y6U6, F1LRW3, Q14U74
      Related
      ENSRNOP00000016242.5, ENSRNOT00000016242.9
      Conserved Domains (1) summary
      COG1928
      Location:134 → 820
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086024.1 Reference GRCr8

      Range
      112486416..112525799 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039112959.2 → XP_038968887.1  protein O-mannosyl-transferase 2 isoform X1

      Conserved Domains (1) summary
      COG1928
      Location:134 → 595
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    RNA

    1. XR_010052149.1 RNA Sequence

    2. XR_010052150.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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