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Aliases for GCNT3 Gene

Aliases for GCNT3 Gene

  • Glucosaminyl (N-Acetyl) Transferase 3, Mucin Type 2 3 5
  • Core 2/Core 4 Beta-1,6-N-Acetylglucosaminyltransferase 3 4
  • C2GnT-Mucin Type 3 4
  • HC2GnT-M 3 4
  • C2/4GnT 3 4
  • Beta-1,3-Galactosyl-O-Glycosyl-Glycoprotein Beta-1,6-N-Acetylglucosaminyltransferase 3 3
  • Mucus-Type Core 2 Beta-1,6-N-Acetylglucosaminyltransferase 3
  • Beta1,6-N-Acetylglucosaminyltransferase-M 3
  • Beta1,6GlcNAc-Transferase 3
  • EC 2.4.1.102 4
  • EC 2.4.1.148 4
  • EC 2.4.1.150 4
  • C2GnT-M 4
  • C24GNT 3
  • C2GNT2 3
  • C2GNTM 3
  • GNTM 3

External Ids for GCNT3 Gene

Previous GeneCards Identifiers for GCNT3 Gene

  • GC15P055467
  • GC15P052952
  • GC15P057483
  • GC15P057620
  • GC15P057691
  • GC15P059903
  • GC15P036725

Summaries for GCNT3 Gene

Entrez Gene Summary for GCNT3 Gene

  • This gene encodes a member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.[provided by RefSeq, Apr 2009]

GeneCards Summary for GCNT3 Gene

GCNT3 (Glucosaminyl (N-Acetyl) Transferase 3, Mucin Type) is a Protein Coding gene. Among its related pathways are Mucin type O-glycan biosynthesis and terminal O-glycans residues modification. 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 GCNT3 Gene

  • Glycosyltransferase that can synthesize all known mucin beta 6 N-acetylglucosaminides. Mediates core 2 and core 4 O-glycan branching, 2 important steps in mucin-type biosynthesis. Has also I-branching enzyme activity by converting linear into branched poly-N-acetyllactosaminoglycans, leading to introduce the blood group I antigen during embryonic development.

Additional gene information for GCNT3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCNT3 Gene

Genomics for GCNT3 Gene

GeneHancer (GH) Regulatory Elements for GCNT3 Gene

Promoters and enhancers for GCNT3 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
GH15J059553 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 652.4 -39.4 -39406 3.5 FOXA2 MLX ZNF48 TCF12 GTF3C2 FOS NFKBIZ RXRA SP5 NFYC GCNT3 SLTM PIGHP1 RPS3AP6 RNF111 RPL21P117 GC15M059576 RNA5SP396
GH15J059611 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 650.4 +17.4 17433 2.2 ELF3 FOXA2 ZFP64 ARID4B SIN3A RARA ZBTB11 USF2 ELF1 REST GCNT3 PIGHP1 BNIP2 GTF2A2 RNF111 RPS3AP6 GC15M059584 GC15P059642
GH15J059614 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 650.3 +20.8 20835 2.4 CTCF JUN MAX CEBPG ZBTB40 RAD21 POLR2A NFYB SMC3 FOSL2 GCNT3 GTF2A2 GC15M059584 GC15P059642
GH15J059593 Enhancer 1.2 Ensembl ENCODE dbSUPER 650.7 +0.6 555 3.2 ELF3 FOXA2 SIN3A RARA ZNF614 FOS CREM MIXL1 ELF1 REST GCNT3 GC15M059584
GH15J059270 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.2 -315.9 -315939 16.3 FOXA2 MLX ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS DEK SP5 PIGHP1 RNF111 RPS3AP6 MYO1E SLTM BNIP2 FAM81A MIR2116 ENSG00000259250 GCNT3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GCNT3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GCNT3 gene promoter:

Genomic Locations for GCNT3 Gene

Genomic Locations for GCNT3 Gene
chr15:59,594,875-59,640,239
(GRCh38/hg38)
Size:
45,365 bases
Orientation:
Plus strand
chr15:59,887,074-59,932,438
(GRCh37/hg19)

Genomic View for GCNT3 Gene

Genes around GCNT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCNT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCNT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCNT3 Gene

Proteins for GCNT3 Gene

  • Protein details for GCNT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95395-GCNT3_HUMAN
    Recommended name:
    Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3
    Protein Accession:
    O95395

    Protein attributes for GCNT3 Gene

    Size:
    438 amino acids
    Molecular mass:
    50864 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GCNT3 Gene

Post-translational modifications for GCNT3 Gene

Other Protein References for GCNT3 Gene

No data available for DME Specific Peptides for GCNT3 Gene

Domains & Families for GCNT3 Gene

Gene Families for GCNT3 Gene

Protein Domains for GCNT3 Gene

Suggested Antigen Peptide Sequences for GCNT3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95395

UniProtKB/Swiss-Prot:

GCNT3_HUMAN :
  • Belongs to the glycosyltransferase 14 family.
Family:
  • Belongs to the glycosyltransferase 14 family.
genes like me logo Genes that share domains with GCNT3: view

Function for GCNT3 Gene

Molecular function for GCNT3 Gene

UniProtKB/Swiss-Prot Function:
Glycosyltransferase that can synthesize all known mucin beta 6 N-acetylglucosaminides. Mediates core 2 and core 4 O-glycan branching, 2 important steps in mucin-type biosynthesis. Has also I-branching enzyme activity by converting linear into branched poly-N-acetyllactosaminoglycans, leading to introduce the blood group I antigen during embryonic development.
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].
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine + beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-GlcNAc-R = UDP + beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-(beta-D-GlcNAc-(1->6))-beta-D-Gal-(1->4)-beta-D-GlcNAc-R.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine + N-acetyl-beta-D-glucosaminyl-(1->3)-N-acetyl-alpha-D-galactosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-(1->6)-(N-acetyl-beta-D-glucosaminyl-(1->3))-N-acetyl-alpha-D-galactosaminyl-R.
UniProtKB/Swiss-Prot Induction:
By all-trans retinoic acid (ATRA), TNF and IL13/interleukin-13. Strongly down-regulated in colorectal cancer.
GENATLAS Biochemistry:
beta 1,6-N-acetyl-glucosaminyl transferase 3,transmembrane protein,mucin type,core 2/core 4 branching enzyme in O-glycans,expressed in colon,small intestine,trachea,stomach,kidney,pancreas

Enzyme Numbers (IUBMB) for GCNT3 Gene

Gene Ontology (GO) - Molecular Function for GCNT3 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 IEA,TAS --
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 GCNT3: view
genes like me logo Genes that share phenotypes with GCNT3: view

Animal Models for GCNT3 Gene

MGI Knock Outs for GCNT3:

Animal Model Products

miRNA for GCNT3 Gene

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GCNT3 Gene

Localization for GCNT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCNT3 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 GCNT3 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GCNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA,TAS 9988682
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with GCNT3: view

Pathways & Interactions for GCNT3 Gene

genes like me logo Genes that share pathways with GCNT3: view

UniProtKB/Swiss-Prot O95395-GCNT3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for GCNT3 Gene

Gene Ontology (GO) - Biological Process for GCNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002426 immunoglobulin production in mucosal tissue IEA --
GO:0005975 carbohydrate metabolic process NAS 9988682
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation TAS 9988682
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with GCNT3: view

No data available for SIGNOR curated interactions for GCNT3 Gene

Drugs & Compounds for GCNT3 Gene

(1) Drugs for GCNT3 Gene - From: HMDB

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

(1) Additional Compounds for GCNT3 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 GCNT3: view

Transcripts for GCNT3 Gene

mRNA/cDNA for GCNT3 Gene

Unigene Clusters for GCNT3 Gene

Glucosaminyl (N-acetyl) transferase 3, mucin type:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GCNT3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e
SP1: - - - - - -
SP2: - - -
SP3: - - - - -
SP4: - -
SP5: -
SP6:

Relevant External Links for GCNT3 Gene

GeneLoc Exon Structure for
GCNT3
ECgene alternative splicing isoforms for
GCNT3

Expression for GCNT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GCNT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GCNT3 Gene

This gene is overexpressed in Colon - Transverse (x18.2), Small Intestine - Terminal Ileum (x8.6), Minor Salivary Gland (x7.8), and Vagina (x4.7).

Protein differential expression in normal tissues from HIPED for GCNT3 Gene

This gene is overexpressed in Islet of Langerhans (45.3) and Stomach (23.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GCNT3 Gene



Protein tissue co-expression partners for GCNT3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GCNT3 Gene:

GCNT3

SOURCE GeneReport for Unigene cluster for GCNT3 Gene:

Hs.194710

mRNA Expression by UniProt/SwissProt for GCNT3 Gene:

O95395-GCNT3_HUMAN
Tissue specificity: Primarily expressed in mucus-secreting tissues. Expressed in colon, kidney, small intestine, trachea, and stomach, where mucin is produced.

Evidence on tissue expression from TISSUES for GCNT3 Gene

  • Intestine(4.8)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with GCNT3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GCNT3 Gene

Orthologs for GCNT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GCNT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCNT3 34 33
  • 98.93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GCNT3 34 33
  • 85.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GCNT3 34 33
  • 84.74 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gcnt3 33
  • 79.56 (n)
mouse
(Mus musculus)
Mammalia Gcnt3 16 34 33
  • 78.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GCNT3 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GCNT3 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCNT3 34 33
  • 62.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCNT3 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486342 33
  • 61.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24450 33
zebrafish
(Danio rerio)
Actinopterygii gcnt3 34 33
  • 62.4 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gly-15 33
  • 44.51 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
Species where no ortholog for GCNT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for GCNT3 Gene

ENSEMBL:
Gene Tree for GCNT3 (if available)
TreeFam:
Gene Tree for GCNT3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GCNT3: view image

Paralogs for GCNT3 Gene

Paralogs for GCNT3 Gene

(8) SIMAP similar genes for GCNT3 Gene using alignment to 4 proteins:

  • GCNT3_HUMAN
  • H0YM40_HUMAN
  • H0YMW7_HUMAN
  • H0YNA3_HUMAN
genes like me logo Genes that share paralogs with GCNT3: view

Variants for GCNT3 Gene

Sequence variations from dbSNP and Humsavar for GCNT3 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000017134 -- 59,609,895(+) A/G upstream_transcript_variant
rs1000068130 -- 59,610,028(+) A/T upstream_transcript_variant
rs1000121636 -- 59,610,156(+) T/G upstream_transcript_variant
rs1000368320 -- 59,619,367(+) G/T coding_sequence_variant, missense_variant
rs1000641083 -- 59,614,871(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GCNT3 Gene

Variant ID Type Subtype PubMed ID
esv23994 CNV gain 19812545
esv2668729 CNV deletion 23128226
esv3636644 CNV loss 21293372
nsv527307 CNV gain 19592680
nsv569605 CNV loss 21841781
nsv7266 OTHER inversion 18451855

Variation tolerance for GCNT3 Gene

Residual Variation Intolerance Score: 71.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 29.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GCNT3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCNT3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCNT3 Gene

Disorders for GCNT3 Gene

Additional Disease Information for GCNT3

No disorders were found for GCNT3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GCNT3 Gene

Publications for GCNT3 Gene

  1. Molecular cloning and expression of a novel beta-1, 6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches. (PMID: 9915862) Yeh JC … Fukuda M (The Journal of biological chemistry 1999) 2 3 4 22 58
  2. Mucin biosynthesis: identification of the cis-regulatory elements of human C2GnT-M gene. (PMID: 17303715) Tan S … Cheng PW (American journal of respiratory cell and molecular biology 2007) 3 4 22 58
  3. C2GnT-M is downregulated in colorectal cancer and its re-expression causes growth inhibition of colon cancer cells. (PMID: 16418723) Huang MC … Hsu SM (Oncogene 2006) 3 4 22 58
  4. Control of O-glycan branch formation. Molecular cloning of human cDNA encoding a novel beta1,6-N-acetylglucosaminyltransferase forming core 2 and core 4. (PMID: 9988682) Schwientek T … Clausen H (The Journal of biological chemistry 1999) 2 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for GCNT3 Gene

Sources for GCNT3 Gene

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