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    Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 [ Mus musculus (house mouse) ]

    Gene ID: 215494, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pomgnt2provided by MGI
    Official Full Name
    protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2provided by MGI
    Primary source
    MGI:MGI:2143424
    See related
    Ensembl:ENSMUSG00000066235 AllianceGenome:MGI:2143424
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ago61; Gtdc2
    Summary
    Enables acetylglucosaminyltransferase activity. Involved in neuron migration and protein O-linked mannosylation. Predicted to be active in endoplasmic reticulum membrane. Is expressed in brain and eye. 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
    Ubiquitous expression in ovary adult (RPKM 18.1), adrenal adult (RPKM 14.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pomgnt2 in Genome Data Viewer
    Location:
    9 F4; 9 72.78 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (121810675..121825116, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (121981606..121996053, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_25540 Neighboring gene cytochrome P450, family 8, subfamily b, polypeptide 1 Neighboring gene STARR-positive B cell enhancer mm9_chr9:121836139-121836440 Neighboring gene STARR-positive B cell enhancer mm9_chr9:121837482-121837783 Neighboring gene RIKEN cDNA 1700048O20 gene Neighboring gene golgi associated kinase 1A Neighboring gene STARR-seq mESC enhancer starr_25541 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:121902140-121902405 Neighboring gene predicted gene, 39463 Neighboring gene predicted gene, 39465 Neighboring gene predicted gene, 39464

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Manzini MC, et al. Am J Hum Genet, 2012 Sep 7. PMID 22958903, Free PMC Article
    2. O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1. Sakaidani Y, et al. Biochem Biophys Res Commun, 2012 Mar 2. PMID 22310717
    3. 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
    4. 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
    5. 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

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC31712

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables acetylglucosaminyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    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
    		 PubMed 
    Process Evidence Code Pubs
    involved_in neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein O-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		 PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2
    Names
    glycosyltransferase-like domain containing 2
    glycosyltransferase-like domain-containing protein 2
    NP_001276487.1
    NP_001276488.1
    NP_001276489.1
    NP_001395035.1
    NP_001395036.1
    NP_705768.4
    XP_036010725.1

    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_001289558.2 → NP_001276487.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

      See identical proteins and their annotated locations for NP_001276487.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AC164092
      Consensus CDS
      CCDS23643.1
      UniProtKB/Swiss-Prot
      Q58F17, Q8BW41, Q8BXZ9, Q8K0M5
      Related
      ENSMUSP00000149077.2, ENSMUST00000216669.2
      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_001289559.2 → NP_001276488.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

      See identical proteins and their annotated locations for NP_001276488.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AC164092
      Consensus CDS
      CCDS23643.1
      UniProtKB/Swiss-Prot
      Q58F17, Q8BW41, Q8BXZ9, Q8K0M5
      Related
      ENSMUSP00000149753.2, ENSMUST00000217610.2
      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. NM_001289560.2 → NP_001276489.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

      See identical proteins and their annotated locations for NP_001276489.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AC164092
      Consensus CDS
      CCDS23643.1
      UniProtKB/Swiss-Prot
      Q58F17, Q8BW41, Q8BXZ9, Q8K0M5
      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)

    4. NM_001408106.1 → NP_001395035.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

      Status: VALIDATED

      Source sequence(s)
      AC164092
      UniProtKB/Swiss-Prot
      Q58F17, Q8BW41, Q8BXZ9, Q8K0M5

    5. NM_001408107.1 → NP_001395036.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

      Status: VALIDATED

      Source sequence(s)
      AC164092
      UniProtKB/Swiss-Prot
      Q58F17, Q8BW41, Q8BXZ9, Q8K0M5

    6. NM_153540.5 → NP_705768.4  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

      See identical proteins and their annotated locations for NP_705768.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AC164092
      Consensus CDS
      CCDS23643.1
      UniProtKB/Swiss-Prot
      Q58F17, Q8BW41, Q8BXZ9, Q8K0M5
      Related
      ENSMUSP00000095868.4, ENSMUST00000084743.7
      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)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      121810675..121825116 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154832.1 → XP_036010725.1  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      Q58F17, Q8BW41, Q8BXZ9, Q8K0M5
      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
    Q8BW41.2 GenPept UniProtKB/Swiss-Prot:Q8BW41

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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