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Aliases for POMGNT2 Gene

Aliases for POMGNT2 Gene

  • Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-) 2 3
  • C3orf39 3 4 6
  • GTDC2 3 4 6
  • AGO61 3 4 6
  • Glycosyltransferase-Like Domain-Containing Protein 2 3 4
  • Glycosyltransferase-Like Domain Containing 2 2 3
  • MDDGA8 3 6
  • Protein O-Linked-Mannose Beta-1,4-N-Acetylglucosaminyltransferase 2 3
  • Extracellular O-Linked N-Acetylglucosamine Transferase-Like 4
  • Chromosome 3 Open Reading Frame 39 2
  • EC 2.4.1.- 4
  • POMGnT2 4
  • EOGTL 4

External Ids for POMGNT2 Gene

Previous HGNC Symbols for POMGNT2 Gene

  • C3orf39
  • GTDC2

Summaries for POMGNT2 Gene

Entrez Gene Summary for POMGNT2 Gene

  • This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]

GeneCards Summary for POMGNT2 Gene

POMGNT2 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)) is a Protein Coding gene. Diseases associated with POMGNT2 include muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 and hereditary multiple osteochondromas. GO annotations related to this gene include acetylglucosaminyltransferase activity. An important paralog of this gene is EOGT.

UniProtKB/Swiss-Prot for POMGNT2 Gene

  • O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that tranfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POMGNT2 Gene

Genomics for POMGNT2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for POMGNT2 Gene

Start:
43,079,229 bp from pter
End:
43,106,083 bp from pter
Size:
26,855 bases
Orientation:
Minus strand

Genomic View for POMGNT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POMGNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POMGNT2 Gene

No data available for Regulatory Elements for POMGNT2 Gene

Proteins for POMGNT2 Gene

  • Protein details for POMGNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NAT1-PMGT2_HUMAN
    Recommended name:
    Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2
    Protein Accession:
    Q8NAT1
    Secondary Accessions:
    • B3KWC3
    • Q96SY3

    Protein attributes for POMGNT2 Gene

    Size:
    580 amino acids
    Molecular mass:
    66615 Da
    Quaternary structure:
    No Data Available

neXtProt entry for POMGNT2 Gene

Proteomics data for POMGNT2 Gene at MOPED

Post-translational modifications for POMGNT2 Gene

  • Glycosylation at Thr43, Asn99, and Asn276
  • Modification sites at PhosphoSitePlus

Other Protein References for POMGNT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POMGNT2 Gene

Domains for POMGNT2 Gene

Protein Domains for POMGNT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NAT1

UniProtKB/Swiss-Prot:

PMGT2_HUMAN :
  • Q8NAT1
Domain:
  • Contains 1 fibronectin type-III domain.
Family:
  • Belongs to the glycosyltransferase 61 family.
genes like me logo Genes that share domains with POMGNT2: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for POMGNT2 Gene

Function for POMGNT2 Gene

Molecular function for POMGNT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: UDP-N-acetyl-alpha-D-glucosamine + O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein.
UniProtKB/Swiss-Prot Function: O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that tranfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.

Enzyme Numbers (IUBMB) for POMGNT2 Gene

Gene Ontology (GO) - Molecular Function for POMGNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008375 acetylglucosaminyltransferase activity IDA 23929950
GO:0016757 transferase activity, transferring glycosyl groups --
GO:0097363 protein O-GlcNAc transferase activity IDA 23929950
genes like me logo Genes that share ontologies with POMGNT2: view

Animal Model Products

CRISPR Products

miRNA for POMGNT2 Gene

miRTarBase miRNAs that target POMGNT2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POMGNT2

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for POMGNT2 Gene

Localization for POMGNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POMGNT2 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Gene Ontology (GO) - Cellular Components for POMGNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 23929950
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with POMGNT2: view

No data available for Subcellular locations from COMPARTMENTS for POMGNT2 Gene

Pathways for POMGNT2 Gene

SuperPathways for POMGNT2 Gene

No Data Available

UniProtKB/Swiss-Prot Q8NAT1-PMGT2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for POMGNT2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000344125%0d%0a9606.ENSP00000354929%0d%0a
Selected Interacting proteins: ENSP00000344125 Q8NAT1-PMGT2_HUMAN for POMGNT2 Gene via STRING UniProtKB I2D

Gene Ontology (GO) - Biological Process for POMGNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0006493 protein O-linked glycosylation IDA 23929950
GO:0035269 protein O-linked mannosylation ISS --
genes like me logo Genes that share ontologies with POMGNT2: view

No data available for Pathways by source for POMGNT2 Gene

Compounds for POMGNT2 Gene

(51) Novoseek inferred chemical compound relationships for POMGNT2 Gene

Compound -log(P) Hits PubMed IDs
polysaccharide 83.5 111
n-acetyllactosamine 81.5 5
10-deoxymethynolide 80.2 2
methymycin 79 1
udpglucose 77.1 8
genes like me logo Genes that share compounds with POMGNT2: view

Transcripts for POMGNT2 Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POMGNT2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POMGNT2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for POMGNT2 Gene

GeneLoc Exon Structure for
POMGNT2
ECgene alternative splicing isoforms for
POMGNT2

Expression for POMGNT2 Gene

mRNA expression in normal human tissues for POMGNT2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POMGNT2 Gene

mRNA Expression by UniProt/SwissProt for POMGNT2 Gene

Q8NAT1-PMGT2_HUMAN
Tissue specificity: Highly expressed in the brain, muscle, heart, and kidney in both fetus and adult. In the brain, highest expression in the cortex and cerebellum. Highly expressed in the pancreas.
genes like me logo Genes that share expressions with POMGNT2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POMGNT2 Gene

Orthologs for POMGNT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for POMGNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTDC2 35
  • 99.71 (n)
  • 99.66 (a)
GTDC2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GTDC2 35
  • 90 (n)
  • 93.62 (a)
GTDC2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GTDC2 35
  • 89.6 (n)
  • 94.31 (a)
GTDC2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtdc2 16
Pomgnt2 35
  • 88.68 (n)
  • 93.45 (a)
Pomgnt2 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POMGNT2 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POMGNT2 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pomgnt2 35
  • 88.33 (n)
  • 93.45 (a)
chicken
(Gallus gallus)
Aves C2H3ORF39 35
  • 75.1 (n)
  • 80.07 (a)
POMGNT2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POMGNT2 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomgnt2 35
  • 68.17 (n)
  • 75.35 (a)
Str.19414 35
zebrafish
(Danio rerio)
Actinopterygii pomgnt2 35
  • 70.24 (n)
  • 72.66 (a)
pomgnt2 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eogt 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H12D21.10 36
  • 15 (a)
OneToMany
Species with no ortholog for POMGNT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POMGNT2 Gene

ENSEMBL:
Gene Tree for POMGNT2 (if available)
TreeFam:
Gene Tree for POMGNT2 (if available)

Paralogs for POMGNT2 Gene

Paralogs for POMGNT2 Gene

genes like me logo Genes that share paralogs with POMGNT2: view

Variants for POMGNT2 Gene

Sequence variations from dbSNP and Humsavar for POMGNT2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs2867 -- 43,079,343(+) ATTAC(G/T)CGGTT utr-variant-3-prime
rs604033 -- 43,080,067(-) ATCCC(A/G)TCCCT synonymous-codon, reference
rs1829843 -- 43,079,020(-) GGAGA(C/G)GGCTG downstream-variant-500B
rs3215318 -- 43,078,977(-) TTTTT(G/T)GGGCT downstream-variant-500B
rs9811883 -- 43,080,199(+) CCCCC(C/T)TGATC synonymous-codon, reference

Relevant External Links for POMGNT2 Gene

HapMap Linkage Disequilibrium report
POMGNT2
Human Gene Mutation Database (HGMD)
POMGNT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for POMGNT2 Gene

Disorders for POMGNT2 Gene

(1) OMIM Diseases for POMGNT2 Gene (614828)

UniProtKB/Swiss-Prot

PMGT2_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8) [MIM:614830]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:22958903}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(53) Novoseek inferred disease relationships for POMGNT2 Gene

Disease -log(P) Hits PubMed IDs
mdc1c 85.5 3
muscle-eye-brain disease 83.9 2
exostoses multiple hereditary 80 5
lgmd2i 79.3 2
walker-warburg syndrome 76.7 2
genes like me logo Genes that share disorders with POMGNT2: view

Publications for POMGNT2 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. (PMID: 22958903) Manzini M.C. … Walsh C.A. (Am. J. Hum. Genet. 2012) 3 4
  5. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. (PMID: 23929950) Yoshida-Moriguchi T. … Campbell K.P. (Science 2013) 3 4

Products for POMGNT2 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate POMGNT2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for POMGNT2
    • Block miRNA regulation of POMGNT2 using miScript Target Protectors

    Sources for POMGNT2 Gene

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