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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
  • EC 2.4.1.102 4
  • C2GNT3 3
  • C2GnT3 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. Among its related pathways are Mucin type O-glycan biosynthesis and O-linked glycosylation. Gene Ontology (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.

Additional gene information for GCNT4 Gene

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

Genomics for GCNT4 Gene

GeneHancer (GH) Regulatory Elements for GCNT4 Gene

Promoters and enhancers for GCNT4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J075057 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 35 -28.5 -28518 4.6 ZNF664 GATA3 FOXA2 SP7 GCNT4 ANKRD31 ANKDD1B FAM169A LINC01336 PIR55798
GH05J075318 Enhancer 1.3 FANTOM5 Ensembl ENCODE 19.4 -289.9 -289880 3.7 HDAC1 PKNOX1 SIN3A PRPF4 RCOR1 FOS ATF7 KLF13 SMARCC1 PHF21A GCNT4 ENSG00000272040 POC5 COL4A3BP HMGCR ENSG00000247372 GC05M075287
GH05J075610 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.8 -583.6 -583628 8.5 ARID4B FEZF1 ZNF48 TCF12 KLF7 FOS ZNF202 NCOA1 GLIS1 MXD3 ANKDD1B POC5 RPS26P26 GCNT4 COL4A3BP RNU6-680P
GH05J075509 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.7 -481.0 -481006 5.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B COL4A3BP POLK SLC25A5P9 RPL27AP5 LOC100132039 GCNT4 ENSG00000247372 POC5 ENSG00000271815
GH05J075049 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 15.1 -22.6 -22575 7.1 ARID4B SIN3A ZNF2 ZNF48 YY1 GLIS2 ZNF143 DEK SP3 RXRA LINC01336 GCNT4 ENSG00000272040 ANKRD31 RPS26P26 GC05M075044 PIR55798
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GCNT4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GCNT4 gene promoter:
  • ER-alpha
  • SRF (504 AA)
  • SRF
  • POU2F1a
  • POU2F1
  • C/EBPalpha
  • AML1a
  • Nkx2-5

Genomic Locations for GCNT4 Gene

Genomic Locations for GCNT4 Gene
chr5:75,025,346-75,030,899
(GRCh38/hg38)
Size:
5,554 bases
Orientation:
Minus strand
chr5:74,323,289-74,326,724
(GRCh37/hg19)
Size:
3,436 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 isoforms=286 and isoforms=72
  • 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

Gene 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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine + O(3)-(beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl)-L-seryl/threonyl-[protein] = UDP + O(3)-(beta-D-galactosyl-(1->3)-(N-acetyl-beta-D-glucosaminyl-(1->6))-N-acetyl-alpha-D-galactosaminyl)-L-seryl/threonyl-[protein].

Enzyme Numbers (IUBMB) for GCNT4 Gene

Phenotypes From GWAS Catalog 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
GO:0008375 acetylglucosaminyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
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

Clone 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
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 GCNT4 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GCNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
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:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation TAS 10753916
GO:0016266 O-glycan processing TAS --
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
  • (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 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GCNT4 Gene

Orthologs for GCNT4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GCNT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCNT4 34 33
  • 99.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GCNT4 34 33
  • 88.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GCNT4 34 33
  • 87.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gcnt4 16 34 33
  • 82.21 (n)
oppossum
(Monodelphis domestica)
Mammalia GCNT4 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCNT4 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCNT4 34 33
  • 71.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCNT4 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcnt4 33
  • 64.47 (n)
zebrafish
(Danio rerio)
Actinopterygii gcnt4a 34 33
  • 63.81 (n)
OneToMany
GCNT4 (2 of 3) 34
  • 54 (a)
OneToMany
gcnt4b 34
  • 51 (a)
OneToMany
wufc31c11 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GCNT4: view image

Paralogs for GCNT4 Gene

Paralogs for GCNT4 Gene

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

  • GCNT4_HUMAN
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 Variation AA Info Type
rs1000009403 -- 75,031,402(-) A/G/T upstream_transcript_variant
rs1000333573 -- 75,030,956(-) A/G upstream_transcript_variant
rs1000527555 -- 75,027,820(-) A/T 3_prime_UTR_variant
rs1000822946 -- 75,027,522(-) C/T 3_prime_UTR_variant
rs1002273893 -- 75,029,485(-) T/C coding_sequence_variant, missense_variant

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)

Additional Variant Information for GCNT4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GCNT4 Gene

Additional Disease Information for GCNT4

No disorders were found for GCNT4 Gene.

No data available for MalaCards , 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 (The Journal of biological chemistry 2000) 2 3 4 58
  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 JH … Mozaffarian D (Circulation. Cardiovascular genetics 2013) 3 58

Products for GCNT4 Gene

Sources for GCNT4 Gene

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