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pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) [ Danio rerio (zebrafish) ]

Gene ID: 497644, updated on 2-Nov-2024

Summary

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Official Symbol
pomgnt2provided by ZNC
Official Full Name
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)provided by ZNC
Primary source
ZFIN:ZDB-GENE-050522-242
See related
Ensembl:ENSDARG00000010941 AllianceGenome:ZFIN:ZDB-GENE-050522-242
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
glyt; ago61; gtdc2; im:7153239; zgc:112079
Summary
Predicted to enable protein O-acetylglucosaminyltransferase activity. Acts upstream of or within brain development; muscle cell development; and retina development in camera-type eye. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in basal plate midbrain region; heart; nervous system; and somite. 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, Nov 2024]
Orthologs
human mouse all
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Genomic context

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See pomgnt2 in Genome Data Viewer
Location:
chromosome: 16
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 16 NC_007127.7 (8139515..8162380)
105 previous assembly GRCz10 (GCF_000002035.5) 16 NC_007127.6 (8225786..8248651)

Chromosome 16 - NC_007127.7Genomic Context describing neighboring genes Neighboring gene anoctamin 10a Neighboring gene SNF related kinase a Neighboring gene golgi associated kinase 1A Neighboring gene ectonucleoside triphosphate diphosphohydrolase 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

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. A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. Serafini PR, et al. JCI Insight, 2018 Sep 20. PMID 30232282, Free PMC Article
  3. Evolution of complexity in the zebrafish synapse proteome. Bayés À, et al. Nat Commun, 2017 Mar 2. PMID 28252024, Free PMC Article
  4. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables acetylglucosaminyltransferase activity ISS
Inferred from Sequence or Structural Similarity
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 transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within brain development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within muscle cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuron migration ISS
Inferred from Sequence or Structural Similarity
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within retina development in camera-type eye 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 IEA
Inferred from Electronic Annotation
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
  
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
glycosyltransferase-like domain containing 2
glycosyltransferase-like domain-containing protein 2
NP_001012384.2

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_001012384.2 → NP_001012384.2  protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

    Status: VALIDATED

    Source sequence(s)
    CR627484, DT073564
    UniProtKB/Swiss-Prot
    Q502K0, Q5NDE5
    UniProtKB/TrEMBL
    A0A8M1N437, F1QAS8
    Related
    ENSDARP00000115932.1, ENSDART00000139432.2
    Conserved Domains (2) summary
    cd00063
    Location:498 → 585
    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:326 → 402
    DUF563; Protein of unknown function (DUF563)

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007127.7 Reference GRCz11 Primary Assembly

    Range
    8139515..8162380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5NDE5.1 GenPept UniProtKB/Swiss-Prot:Q5NDE5

Gene LinkOut

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