Free for academic non-profit institutions. Other users need a Commercial license

Aliases for POMGNT2 Gene

Aliases for POMGNT2 Gene

  • Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-) 2 3 5
  • Glycosyltransferase-Like Domain-Containing Protein 2 3 4
  • Glycosyltransferase-Like Domain Containing 2 2 3
  • C3orf39 3 4
  • GTDC2 3 4
  • AGO61 3 4
  • Extracellular O-Linked N-Acetylglucosamine Transferase-Like 4
  • Chromosome 3 Open Reading Frame 39 2
  • EC 2.4.1.- 4
  • POMGnT2 4
  • MDDGA8 3
  • 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 Gtdc2-Related Muscle Diseases. GO annotations related to this gene include transferase activity, transferring glycosyl groups and protein O-GlcNAc transferase 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

Regulatory Elements for POMGNT2 Gene

Enhancers for POMGNT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around POMGNT2 on UCSC Golden Path with GeneCards custom track

Promoters for POMGNT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POMGNT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for POMGNT2 Gene

Chromosome:
3
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

Genes around POMGNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POMGNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POMGNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 Thr 43, Asn 99, and Asn 276
  • 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 & Families for POMGNT2 Gene

Gene Families for POMGNT2 Gene

Protein Domains for POMGNT2 Gene

Suggested Antigen Peptide Sequences for POMGNT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NAT1

UniProtKB/Swiss-Prot:

PMGT2_HUMAN :
  • Contains 1 fibronectin type-III domain.
  • Belongs to the glycosyltransferase 61 family.
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

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

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

Human Phenotype Ontology for POMGNT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POMGNT2 Gene

MGI Knock Outs for POMGNT2:

Animal Model Products

CRISPR Products

miRNA for POMGNT2 Gene

miRTarBase miRNAs that target POMGNT2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for POMGNT2 Gene

Pathways & Interactions 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

None

No data available for Pathways by source and SIGNOR curated interactions for POMGNT2 Gene

Drugs & Compounds for POMGNT2 Gene

(14) Drugs for POMGNT2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(39) Additional Compounds for POMGNT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with POMGNT2: view

Transcripts for POMGNT2 Gene

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

Protein differential expression in normal tissues from HIPED for POMGNT2 Gene

This gene is overexpressed in Nasal epithelium (60.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with POMGNT2: view

Protein tissue co-expression partners for POMGNT2 Gene

Primer 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
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 Pomgnt2 35
  • 88.68 (n)
  • 93.45 (a)
Pomgnt2 16
Pomgnt2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GTDC2 35
  • 99.71 (n)
  • 99.66 (a)
GTDC2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pomgnt2 35
  • 88.33 (n)
  • 93.45 (a)
oppossum
(Monodelphis domestica)
Mammalia POMGNT2 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POMGNT2 36
  • 80 (a)
OneToOne
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
VAR_068967 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8)
rs2867 -- 43,079,343(+) ATTAC(G/T)CGGTT utr-variant-3-prime
rs729654 -- 43,106,160(-) CGTAC(A/G)CAAAA upstream-variant-2KB
rs737351 -- 43,087,845(+) CTGGA(C/T)AAGTT intron-variant, upstream-variant-2KB
rs1072822 -- 43,091,191(+) AGAAA(C/T)GGTTT intron-variant

Variation tolerance for POMGNT2 Gene

Residual Variation Intolerance Score: 75.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POMGNT2 Gene

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

MalaCards: The human disease database

(14) MalaCards diseases for POMGNT2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for POMGNT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POMGNT2
genes like me logo Genes that share disorders with POMGNT2: view

No data available for Genatlas for POMGNT2 Gene

Publications for POMGNT2 Gene

  1. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. (PMID: 23929950) Yoshida-Moriguchi T. … Campbell K.P. (Science 2013) 3 4 67
  2. 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
  3. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for POMGNT2 Gene

Sources for POMGNT2 Gene

Content