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    Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) [ Rattus norvegicus (Norway rat) ]

    Gene ID: 316091, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pomgnt2provided by RGD
    Official Full Name
    protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)provided by RGD
    Primary source
    RGD:1304827
    See related
    EnsemblRapid:ENSRNOG00000019492 AllianceGenome:RGD:1304827
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Ago61; Gtdc2; RGD1304827
    Summary
    Predicted to enable protein O-acetylglucosaminyltransferase activity. Predicted to be involved in neuron migration and protein O-linked mannosylation. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A8 and muscular dystrophy-dystroglycanopathy type C8. Orthologous to human POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Brain (RPKM 43.3), Muscle (RPKM 29.6) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Pomgnt2 in Genome Data Viewer
    Location:
    8q32
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (130522607..130538273, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (121645106..121660761, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (130615482..130631144, complement)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene poly(rC) binding protein 2 like 1 Neighboring gene KRAB box domain containing 1 Neighboring gene golgi associated kinase 1A Neighboring gene uncharacterized LOC134480254 Neighboring gene uncharacterized LOC134480253 Neighboring gene uncharacterized LOC120094304 Neighboring gene SNF related kinase

    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. Milder forms of muscular dystrophy associated with POMGNT2 mutations. Endo Y, et al. Neurol Genet, 2015 Dec. PMID 27066570, Free PMC Article
    2. Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy. Nakagawa N, et al. Sci Rep, 2015 Jun 10. PMID 26060116, Free PMC Article
    3. AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan. Yagi H, et al. Sci Rep, 2013 Nov 21. PMID 24256719, Free PMC Article
    4. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Yoshida-Moriguchi T, et al. Science, 2013 Aug 23. PMID 23929950, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables acetylglucosaminyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein O-acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein O-acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in neuron migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein O-linked glycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein O-linked glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked mannosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein O-linked mannosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2
    Names
    glycosyltransferase
    glycosyltransferase-like domain containing 2
    glycosyltransferase-like domain-containing protein 2
    NP_001009437.1
    XP_008764903.1
    XP_008764905.1
    XP_038937590.1

    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_001009437.2 → NP_001009437.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

      See identical proteins and their annotated locations for NP_001009437.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/Swiss-Prot
      Q5NDF0
      UniProtKB/TrEMBL
      A6I471
      Conserved Domains (2) summary
      cd00063
      Location:493 → 580
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl15705
      Location:320 → 395
      DUF563; Protein of unknown function (DUF563)

    2. NM_001433912.1 → NP_001420841.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/Swiss-Prot
      Q5NDF0
      UniProtKB/TrEMBL
      A6I471

    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_086026.1 Reference GRCr8

      Range
      130522607..130538273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_008766681.4 → XP_008764903.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

      Related
      ENSRNOP00000098985.1, ENSRNOT00000136071.1
      Conserved Domains (2) summary
      cd00063
      Location:493 → 580
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl15705
      Location:320 → 395
      DUF563; Protein of unknown function (DUF563)

    2. XM_008766683.4 → XP_008764905.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

      Related
      ENSRNOP00000108884.1, ENSRNOT00000146834.1
      Conserved Domains (2) summary
      cd00063
      Location:493 → 580
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl15705
      Location:320 → 395
      DUF563; Protein of unknown function (DUF563)

    3. XM_039081662.2 → XP_038937590.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      Q5NDF0
      UniProtKB/TrEMBL
      A6I471
      Conserved Domains (2) summary
      cd00063
      Location:493 → 580
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl15705
      Location:320 → 395
      DUF563; Protein of unknown function (DUF563)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5NDF0.1 GenPept UniProtKB/Swiss-Prot:Q5NDF0

    Gene LinkOut

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