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Aliases for GCNT4 Gene

Aliases for GCNT4 Gene

  • Glucosaminyl (N-Acetyl) Transferase 4, Core 2 2 3 5
  • Glucosaminyl (N-Acetyl) Transferase 4, Core 2 (Beta-1,6-N-Acetylglucosaminyltransferase) 2 3
  • Beta-1,3-Galactosyl-O-Glycosyl-Glycoprotein Beta-1,6-N-Acetylglucosaminyltransferase 4 2 3
  • Core 2 Beta-1,6-N-Acetylglucosaminyltransferase 3 2 3
  • Core2-GlcNAc-Transferase 3 3 4
  • Core 2-Branching Enzyme 3 3 4
  • C2GNT3 3 4
  • EC 2.4.1.102 4

External Ids for GCNT4 Gene

Previous GeneCards Identifiers for GCNT4 Gene

  • GC05M074360
  • GC05M074324
  • GC05M069528

Summaries for GCNT4 Gene

GeneCards Summary for GCNT4 Gene

GCNT4 (Glucosaminyl (N-Acetyl) Transferase 4, Core 2) is a Protein Coding gene. Diseases associated with GCNT4 include Mast Cell Neoplasm. Among its related pathways are Transport to the Golgi and subsequent modification and O-linked glycosylation. GO annotations related to this gene include acetylglucosaminyltransferase activity and N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity. An important paralog of this gene is GCNT1.

UniProtKB/Swiss-Prot for GCNT4 Gene

  • Glycosyltransferase that mediates core 2 O-glycan branching, an important step in mucin-type biosynthesis. Does not have core 4 O-glycan or I-branching enzyme activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCNT4 Gene

Genomics for GCNT4 Gene

Regulatory Elements for GCNT4 Gene

Enhancers for GCNT4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GCNT4 on UCSC Golden Path with GeneCards custom track

Genomic Location for GCNT4 Gene

Chromosome:
5
Start:
75,025,346 bp from pter
End:
75,030,899 bp from pter
Size:
5,554 bases
Orientation:
Minus strand

Genomic View for GCNT4 Gene

Genes around GCNT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCNT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCNT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCNT4 Gene

Proteins for GCNT4 Gene

  • Protein details for GCNT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P109-GCNT4_HUMAN
    Recommended name:
    Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4
    Protein Accession:
    Q9P109

    Protein attributes for GCNT4 Gene

    Size:
    453 amino acids
    Molecular mass:
    53052 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GCNT4 Gene

Post-translational modifications for GCNT4 Gene

  • Glycosylation at Asn 72 and Asn 286
  • Modification sites at PhosphoSitePlus

Other Protein References for GCNT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GCNT4 Gene

Domains & Families for GCNT4 Gene

Protein Domains for GCNT4 Gene

Suggested Antigen Peptide Sequences for GCNT4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P109

UniProtKB/Swiss-Prot:

GCNT4_HUMAN :
  • Belongs to the glycosyltransferase 14 family.
Family:
  • Belongs to the glycosyltransferase 14 family.
genes like me logo Genes that share domains with GCNT4: view

Function for GCNT4 Gene

Molecular function for GCNT4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-1,3-N-acetyl-D-galactosaminyl-R = UDP + beta-D-galactosyl-1,3-(N-acetyl-beta-D-glucosaminyl-1,6)-N-acetyl-D-galactosaminyl-R.
UniProtKB/Swiss-Prot Function:
Glycosyltransferase that mediates core 2 O-glycan branching, an important step in mucin-type biosynthesis. Does not have core 4 O-glycan or I-branching enzyme activity.

Enzyme Numbers (IUBMB) for GCNT4 Gene

Gene Ontology (GO) - Molecular Function for GCNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003829 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity TAS --
GO:0008109 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity TAS 10753916
genes like me logo Genes that share ontologies with GCNT4: view
genes like me logo Genes that share phenotypes with GCNT4: view

Animal Models for GCNT4 Gene

MGI Knock Outs for GCNT4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GCNT4 Gene

Localization for GCNT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCNT4 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GCNT4 Gene COMPARTMENTS Subcellular localization image for GCNT4 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 2
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GCNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GCNT4: view

Pathways & Interactions for GCNT4 Gene

genes like me logo Genes that share pathways with GCNT4: view

Pathways by source for GCNT4 Gene

UniProtKB/Swiss-Prot Q9P109-GCNT4_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for GCNT4 Gene

Gene Ontology (GO) - Biological Process for GCNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002121 inter-male aggressive behavior IEA --
GO:0005975 carbohydrate metabolic process TAS 10753916
GO:0006493 protein O-linked glycosylation TAS 10753916
GO:0016266 O-glycan processing TAS --
GO:0042403 thyroid hormone metabolic process IEA --
genes like me logo Genes that share ontologies with GCNT4: view

No data available for SIGNOR curated interactions for GCNT4 Gene

Drugs & Compounds for GCNT4 Gene

(1) Drugs for GCNT4 Gene - From: HMDB

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

(1) Additional Compounds for GCNT4 Gene - From: HMDB

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 GCNT4: view

Transcripts for GCNT4 Gene

mRNA/cDNA for GCNT4 Gene

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

Unigene Clusters for GCNT4 Gene

Glucosaminyl (N-acetyl) transferase 4, core 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GCNT4 Gene

No ASD Table

Relevant External Links for GCNT4 Gene

GeneLoc Exon Structure for
GCNT4
ECgene alternative splicing isoforms for
GCNT4

Expression for GCNT4 Gene

mRNA expression in normal human tissues for GCNT4 Gene

mRNA differential expression in normal tissues according to GTEx for GCNT4 Gene

This gene is overexpressed in Stomach (x4.5) and Bladder (x4.1).

Protein differential expression in normal tissues from HIPED for GCNT4 Gene

This gene is overexpressed in Fetal gut (39.6) and Thyroid (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GCNT4 Gene



Protein tissue co-expression partners for GCNT4 Gene

NURSA nuclear receptor signaling pathways regulating expression of GCNT4 Gene:

GCNT4

SOURCE GeneReport for Unigene cluster for GCNT4 Gene:

Hs.272404

mRNA Expression by UniProt/SwissProt for GCNT4 Gene:

Q9P109-GCNT4_HUMAN
Tissue specificity: Predominantly expressed in thymus. Weakly expressed in pancreas, peripheral blood leukocytes, placenta, small intestine and stomach. Barely detectable in liver, spleen, lung and lymph node.
genes like me logo Genes that share expression patterns with GCNT4: view

Primer Products

Orthologs for GCNT4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GCNT4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GCNT4 34
  • 88.08 (n)
  • 87.86 (a)
GCNT4 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GCNT4 34
  • 87.86 (n)
  • 87.42 (a)
GCNT4 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gcnt4 34
  • 82.21 (n)
  • 82.96 (a)
Gcnt4 16
Gcnt4 35
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GCNT4 34
  • 99.78 (n)
  • 99.56 (a)
GCNT4 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GCNT4 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCNT4 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCNT4 34
  • 71.04 (n)
  • 71.6 (a)
GCNT4 35
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCNT4 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcnt4 34
  • 64.47 (n)
  • 64.97 (a)
zebrafish
(Danio rerio)
Actinopterygii gcnt4a 34
  • 63.81 (n)
  • 65.19 (a)
wufc31c11 34
GCNT4 (2 of 3) 35
  • 54 (a)
OneToMany
gcnt4a 35
  • 57 (a)
OneToMany
gcnt4b 35
  • 51 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
Species where no ortholog for GCNT4 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GCNT4 Gene

ENSEMBL:
Gene Tree for GCNT4 (if available)
TreeFam:
Gene Tree for GCNT4 (if available)

Paralogs for GCNT4 Gene

Paralogs for GCNT4 Gene

(8) SIMAP similar genes for GCNT4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GCNT4: view

Variants for GCNT4 Gene

Sequence variations from dbSNP and Humsavar for GCNT4 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs4704166 -, - 75,029,077(+) TTGAA(A/C/G/T)GATGG reference, missense
rs3811987 - 75,028,723(+) TGAGG(A/G)CAAAG reference, missense
rs11957690 -- 75,031,611(+) GTAAC(A/G)GGAAT upstream-variant-2KB
rs4704167 -- 75,032,876(+) GGGTG(G/T)GTGTG upstream-variant-2KB
rs57600801 -- 75,027,283(+) TATAT(A/T)ATATA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for GCNT4 Gene

Variant ID Type Subtype PubMed ID
dgv1614e212 CNV loss 25503493
esv3432407 CNV insertion 20981092
esv3570195 CNV loss 25503493
nsv830352 CNV gain 17160897

Variation tolerance for GCNT4 Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.72; 93.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GCNT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCNT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCNT4 Gene

Disorders for GCNT4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GCNT4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mast cell neoplasm
  • mast cell proliferative disease
- elite association - COSMIC cancer census association via MalaCards
Search GCNT4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GCNT4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GCNT4
genes like me logo Genes that share disorders with GCNT4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GCNT4 Gene

Publications for GCNT4 Gene

  1. Control of O-glycan branch formation. Molecular cloning and characterization of a novel thymus-associated core 2 beta1, 6-n- acetylglucosaminyltransferase. (PMID: 10753916) Schwientek T. … Clausen H. (J. Biol. Chem. 2000) 2 3 4 65
  2. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. (PMID: 23362303) Wu J.H. … Mozaffarian D. (Circ Cardiovasc Genet 2013) 3 65

Products for GCNT4 Gene

Sources for GCNT4 Gene

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