Aliases for GCNT4 Gene

Aliases for GCNT4 Gene

  • Glucosaminyl (N-Acetyl) Transferase 4 2 3 5
  • Beta-1,3-Galactosyl-O-Glycosyl-Glycoprotein Beta-1,6-N-Acetylglucosaminyltransferase 4 2 3 4
  • Glucosaminyl (N-Acetyl) Transferase 4, Core 2 (Beta-1,6-N-Acetylglucosaminyltransferase) 2 3
  • Core 2 Beta-1,6-N-Acetylglucosaminyltransferase 3 2 3
  • Long Intergenic Non-Protein Coding RNA 1336 2 3
  • Core2-GlcNAc-Transferase 3 3 4
  • Core 2-Branching Enzyme 3 3 4
  • Glucosaminyl (N-Acetyl) Transferase 4, Core 2 2
  • EC 2.4.1.102 4
  • LINC01336 3
  • C2GNT3 3
  • C2GnT3 4

External Ids for GCNT4 Gene

Previous HGNC Symbols for GCNT4 Gene

  • LINC01336

Previous GeneCards Identifiers for GCNT4 Gene

  • GC05M074360
  • GC05M074324
  • GC05M069528

Summaries for GCNT4 Gene

GeneCards Summary for GCNT4 Gene

GCNT4 (Glucosaminyl (N-Acetyl) Transferase 4) is a Protein Coding gene. Diseases associated with GCNT4 include Mast Cell Neoplasm. Among its related pathways are Metabolism of proteins and Metabolism. 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 Summary 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 , Rfam classification 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
GH05J075049 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 515.4 -0.6 -646 7.2 CTCF ZSCAN5C USF1 TEAD4 ZFX POLR2A GABPA ZBTB26 REST ZBTB25 GCNT4 LINC01336 ENSG00000272040 ANKRD31 ENSG00000242198 RF00017-4726
GH05J075610 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.8 -561.8 -561757 8.5 PHF8 FOS PHB2 ZIC2 KLF7 CTBP1 ZBTB7A ATF2 RBM25 POLR2A ANKDD1B GCNT4 CERT1 POC5 lnc-POC5-4 lnc-ANKDD1B-1 MG828668-093
GH05J075509 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.7 -458.8 -458835 6 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A NRF1 POLR2G SP1 CERT1 POLK GCNT4 ENSG00000247372 POC5 ENSG00000271815
GH05J075238 Enhancer 0.7 Ensembl ENCODE 32.2 -186.5 -186542 2.6 CTCF TEAD4 ZNF316 FOS DPF2 TEAD3 MAFK JUND EP300 SMARCE1 GCNT4 POLK lnc-HMGCR-4 RF00017-4726
GH05J075057 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 24 -6.6 -6647 4.6 FOXA2 GATA3 ZNF664 GATA2 SP7 FOXA1 GCNT4 ANKRD31 ANKDD1B FAM169A LINC01336 piR-34009-021 RF00017-4726
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GCNT4

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

Genomic Locations for GCNT4 Gene

Genomic Locations for GCNT4 Gene
chr5:75,025,346-75,052,770
(GRCh38/hg38)
Size:
27,425 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 Asn72 and Asn286
  • 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

Blocks:
  • Glycosyl transferase, family 14
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GCNT4 Gene

GenScript: Design optimal peptide antigens:
  • Core2-GlcNAc-transferase 3 (GCNT4_HUMAN)

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:
Reaction=O(3)-[beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-{beta-D-galactosyl-(1->3)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-N-acetyl-alpha-D-galactosaminyl}-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:56212, Rhea:RHEA-COMP:13922, Rhea:RHEA-COMP:14419, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:137949, ChEBI:CHEBI:139605; EC=2.4.1.102; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O(3)-[beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-{beta-D-galactosyl-(1->3)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-N-acetyl-alpha-D-galactosaminyl}-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:56216, Rhea:RHEA-COMP:13923, Rhea:RHEA-COMP:14420, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:137950, ChEBI:CHEBI:139607; EC=2.4.1.102; Evidence=. ;.

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 IEA --
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:

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
extracellular 2
endoplasmic reticulum 2
lysosome 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1
mitochondrion 0
peroxisome 0

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

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for GCNT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GCNT4 31 30
  • 88.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GCNT4 31 30
  • 87.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gcnt4 17 31 30
  • 82.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GCNT4 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GCNT4 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCNT4 31 30
  • 71.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCNT4 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcnt4 30
  • 64.47 (n)
zebrafish
(Danio rerio)
Actinopterygii gcnt4a 31 30
  • 63.81 (n)
OneToMany
GCNT4 (2 of 3) 31
  • 54 (a)
OneToMany
gcnt4b 31
  • 51 (a)
OneToMany
wufc31c11 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GCNT4 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs4704166 -. - p.Val321Ilep.Val321Leu
rs3811987 - p.Pro439Ser

Additional dbSNP identifiers (rs#s) for GCNT4 Gene

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

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

Additional Disease Information for 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 (The Journal of biological chemistry 2000) 2 3 4 54
  2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 54
  3. 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 54
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 54
  5. Identification and initial characterization of 5000 expressed sequenced tags (ESTs) each from adult human normal and osteoarthritic cartilage cDNA libraries. (PMID: 11597177) Kumar S … Lark MW (Osteoarthritis and cartilage 2001) 3 54

Products for GCNT4 Gene

Sources for GCNT4 Gene