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

Gene ID: 215494, updated on 5-Mar-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
Predicted to enable acetylglucosaminyltransferase activity and protein O-GlcNAc transferase activity. Involved in neuron migration and protein O-linked mannosylation. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. Is expressed in brain and eye. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A8. Orthologous to human POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)). [provided by Alliance of Genome Resources, Apr 2022]
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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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 ISO
Inferred from Sequence Orthology
more info
  
enables glycosyltransferase activity IEA
Inferred from Electronic Annotation
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 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in neuron migration 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 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 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-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

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