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

Aliases for POMGNT2 Gene

Aliases for POMGNT2 Gene

  • Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-) 2 3 5
  • Protein O-Linked-Mannose Beta-1,4-N-Acetylglucosaminyltransferase 2 3 4
  • Protein O-Mannose Beta-1,4-N-Acetylglucosaminyltransferase 2 2 3
  • 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 2.4.1.312 4
  • POMGnT2 4
  • MDDGA8 3
  • MDDGC8 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 , Type A, 8 and Muscular Dystrophy-Dystroglycanopathy , Type C, 8. Among its related pathways are Metabolism and O-linked glycosylation. Gene Ontology (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 Summary for POMGNT2 Gene

  • O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers 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.

Additional gene information for POMGNT2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POMGNT2 Gene

Genomics for POMGNT2 Gene

GeneHancer (GH) Regulatory Elements for POMGNT2 Gene

Promoters and enhancers for POMGNT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POMGNT2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for POMGNT2 Gene

Genomic Locations for POMGNT2 Gene
chr3:43,079,229-43,106,083
(GRCh38/hg38)
Size:
26,855 bases
Orientation:
Minus strand
chr3:43,120,724-43,147,568
(GRCh37/hg19)
Size:
26,845 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

Post-translational modifications for POMGNT2 Gene

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

Other Protein References for POMGNT2 Gene

No data available for DME Specific Peptides for POMGNT2 Gene

Domains & Families for POMGNT2 Gene

Gene Families for POMGNT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for POMGNT2 Gene

Suggested Antigen Peptide Sequences for POMGNT2 Gene

GenScript: Design optimal peptide antigens:
  • Uncharacterized glycosyltransferase AGO61 (AGO61_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NAT1

UniProtKB/Swiss-Prot:

PMGT2_HUMAN :
  • Belongs to the glycosyltransferase 61 family.
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 Function:
O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl)-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:37663, Rhea:RHEA-COMP:13547, Rhea:RHEA-COMP:13618, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:137323, ChEBI:CHEBI:137540; EC=2.4.1.312; Evidence={ECO:0000269 PubMed:23929950, ECO:0000269 PubMed:27066570};.

Enzyme Numbers (IUBMB) for POMGNT2 Gene

Phenotypes From GWAS Catalog 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 TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0097363 protein O-GlcNAc transferase activity IDA,IMP 27066570
genes like me logo Genes that share ontologies with POMGNT2: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POMGNT2

No data available for 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POMGNT2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
plasma membrane 1
golgi apparatus 1
cytosol 0
lysosome 0

Gene Ontology (GO) - Cellular Components for POMGNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 23929950
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 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 the Human Protein Atlas (HPA) for POMGNT2 Gene

Pathways & Interactions for POMGNT2 Gene

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

Pathways by source for POMGNT2 Gene

UniProtKB/Swiss-Prot Q8NAT1-PMGT2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for POMGNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation TAS --
GO:0035269 protein O-linked mannosylation ISS --
genes like me logo Genes that share ontologies with POMGNT2: view

No data available for SIGNOR curated interactions for POMGNT2 Gene

Drugs & Compounds for POMGNT2 Gene

(20) 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with POMGNT2: view

Transcripts for POMGNT2 Gene

mRNA/cDNA for POMGNT2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(119) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POMGNT2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for POMGNT2 Gene



Protein tissue co-expression partners for POMGNT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of POMGNT2 Gene:

POMGNT2

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.

Evidence on tissue expression from TISSUES for POMGNT2 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POMGNT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with POMGNT2: view

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 33 32
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GTDC2 33 32
  • 90 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GTDC2 33 32
  • 89.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pomgnt2 17 33 32
  • 88.68 (n)
rat
(Rattus norvegicus)
Mammalia Pomgnt2 32
  • 88.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia POMGNT2 33
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POMGNT2 33
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves POMGNT2 33
  • 80 (a)
OneToOne
C2H3ORF39 32
  • 75.1 (n)
lizard
(Anolis carolinensis)
Reptilia POMGNT2 33
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomgnt2 32
  • 68.17 (n)
Str.19414 32
zebrafish
(Danio rerio)
Actinopterygii pomgnt2 33 32
  • 70.24 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eogt 33
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H12D21.10 33
  • 15 (a)
OneToMany
Species where no ortholog for POMGNT2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for POMGNT2: view image

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 Variation AA Info Type
rs115870061 uncertain-significance, benign, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8, not specified 43,080,670(-) C/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs137873804 uncertain-significance, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 43,080,030(-) G/A coding_sequence_variant, missense_variant
rs138480528 uncertain-significance, not provided, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 43,080,213(-) G/A coding_sequence_variant, missense_variant
rs138980930 likely-benign, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 43,080,758(-) C/T coding_sequence_variant, missense_variant
rs139060322 uncertain-significance, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 43,080,270(-) G/A/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for POMGNT2 Gene

Variant ID Type Subtype PubMed ID
esv3377835 CNV insertion 20981092
nsv590149 CNV gain 21841781
nsv834672 CNV loss 17160897
nsv954473 CNV deletion 24416366

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)

Additional Variant Information for POMGNT2 Gene

Human Gene Mutation Database (HGMD)
POMGNT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POMGNT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMGNT2 Gene

Disorders for POMGNT2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for POMGNT2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type a, 8
  • mddga8
muscular dystrophy-dystroglycanopathy , type c, 8
  • mddgc8
walker-warburg syndrome
  • hydrocephalus, agyria, and retinal dysplasia
exostosis
  • bone spur
hereditary multiple exostoses
  • hereditary multiple exostoses 1
- 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.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C8 (MDDGC8) [MIM:618135]: An autosomal recessive muscular disease with onset in childhood, characterized by limb-girdle muscular dystrophy and intellectual disability without brain malformation. Disease severity is highly variable and some patients may be clinically asymptomatic. {ECO:0000269 PubMed:27066570}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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. Milder forms of muscular dystrophy associated with POMGNT2 mutations. (PMID: 27066570) Endo Y … Nishino I (Neurology. Genetics 2015) 2 3 4 56
  2. Protein O-Linked Mannose β-1,4-N-Acetylglucosaminyl-transferase 2 (POMGNT2) Is a Gatekeeper Enzyme for Functional Glycosylation of α-Dystroglycan. (PMID: 27932460) Halmo SM … Wells L (The Journal of biological chemistry 2017) 2 3 56
  3. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. (PMID: 23929950) Yoshida-Moriguchi T … Campbell KP (Science (New York, N.Y.) 2013) 3 4 56
  4. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. (PMID: 22958903) Manzini MC … Walsh CA (American journal of human genetics 2012) 3 4 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for POMGNT2 Gene

Sources for POMGNT2 Gene