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Aliases for B4GALNT3 Gene

Aliases for B4GALNT3 Gene

  • Beta-1,4-N-Acetyl-Galactosaminyltransferase 3 2 3 5
  • N-Acetyl-Beta-Glucosaminyl-Glycoprotein 4-Beta-N-Acetylgalactosaminyltransferase 2 3 4
  • Beta-1,4-N-Acetylgalactosaminyltransferase III 3 4
  • Beta4GalNAc-T3 3 4
  • Beta4GalNAcT3 3 4
  • B4GalNAcT3 3 4
  • NGalNAc-T2 3 4
  • N-Acetyl-Beta-Glucosaminyl-Glycoprotein 4-Beta-N- Acetylgalactosaminyltransferase 3
  • Beta-1,4-N-Acetyl-Galactosaminyl Transferase 3 3
  • Beta-1,4-N-Acetylgalactosaminyltransferase 3 3
  • EC 4

External Ids for B4GALNT3 Gene

Previous GeneCards Identifiers for B4GALNT3 Gene

  • GC12P000440
  • GC12P000569

Summaries for B4GALNT3 Gene

Entrez Gene Summary for B4GALNT3 Gene

  • B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]

GeneCards Summary for B4GALNT3 Gene

B4GALNT3 (Beta-1,4-N-Acetyl-Galactosaminyltransferase 3) is a Protein Coding gene. Among its related pathways are Metabolism. Gene Ontology (GO) annotations related to this gene include acetylgalactosaminyltransferase activity and N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT4.

UniProtKB/Swiss-Prot for B4GALNT3 Gene

  • Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N-diacetyllactosediamine formation on gastric mucosa.

Additional gene information for B4GALNT3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALNT3 Gene

Genomics for B4GALNT3 Gene

GeneHancer (GH) Regulatory Elements for B4GALNT3 Gene

Promoters and enhancers for B4GALNT3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J000459 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 658.7 -0.2 -213 1.7 ZNF335 ZNF121 GLIS2 EGR2 SP3 CEBPB ZNF398 ZEB2 ZFP69B CBX8 B4GALNT3 GC12M000442 GC12P000462
GH12J000461 Enhancer 0.8 ENCODE dbSUPER 658.6 +1.3 1290 0.8 ZNF335 ZNF610 MBD1 ZBTB8A ZBTB26 PRDM1 EZH2 ZBTB17 B4GALNT3 GC12P000462
GH12J000553 Enhancer 0.8 Ensembl ENCODE dbSUPER 69.1 +93.5 93454 1.2 POLR2A ETV6 RUNX3 B4GALNT3 PIR41391 GC12M000554
GH12J000480 Enhancer 1 Ensembl ENCODE dbSUPER 43.2 +20.9 20895 1.9 SP2 KLF17 ZNF398 ZIC2 NFIL3 ZFHX2 GLIS2 ZNF692 ZBTB48 POLR2A B4GALNT3 GC12P000495 PIR35231
GH12J000464 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 28.5 +5.1 5115 1.8 MNT OSR2 ZNF335 ZFHX2 GLIS1 ZNF341 KLF9 ZNF600 PRDM4 PRDM1 PIR35231 B4GALNT3 CCDC77 GC12P000495
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B4GALNT3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B4GALNT3 gene promoter:

Genomic Locations for B4GALNT3 Gene

Genomic Locations for B4GALNT3 Gene
103,146 bases
Plus strand

Genomic View for B4GALNT3 Gene

Genes around B4GALNT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALNT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B4GALNT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALNT3 Gene

Proteins for B4GALNT3 Gene

  • Protein details for B4GALNT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-1,4-N-acetylgalactosaminyltransferase 3
    Protein Accession:
    Secondary Accessions:
    • Q6ZNC1
    • Q8N7T6

    Protein attributes for B4GALNT3 Gene

    998 amino acids
    Molecular mass:
    114975 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC05141.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18454.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence={ECO:0000305};

neXtProt entry for B4GALNT3 Gene

Post-translational modifications for B4GALNT3 Gene

  • Glycosylation at Ser70
  • Modification sites at PhosphoSitePlus

Other Protein References for B4GALNT3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for B4GALNT3 Gene

Domains & Families for B4GALNT3 Gene

Gene Families for B4GALNT3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for B4GALNT3 Gene

Suggested Antigen Peptide Sequences for B4GALNT3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
genes like me logo Genes that share domains with B4GALNT3: view

Function for B4GALNT3 Gene

Molecular function for B4GALNT3 Gene

UniProtKB/Swiss-Prot Function:
Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N-diacetyllactosediamine formation on gastric mucosa.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + N-acetyl-beta-D-glucosaminyl group = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl group.

Enzyme Numbers (IUBMB) for B4GALNT3 Gene

Phenotypes From GWAS Catalog for B4GALNT3 Gene

Gene Ontology (GO) - Molecular Function for B4GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008376 acetylgalactosaminyltransferase activity IDA 12966086
GO:0016740 transferase activity IEA --
GO:0033842 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with B4GALNT3: view
genes like me logo Genes that share phenotypes with B4GALNT3: view

Animal Models for B4GALNT3 Gene

MGI Knock Outs for B4GALNT3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALNT3

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B4GALNT3 Gene

Localization for B4GALNT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALNT3 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Localizes to apical Golgi.

Subcellular locations from

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 B4GALNT3 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 2
plasma membrane 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for B4GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with B4GALNT3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALNT3 Gene

Pathways & Interactions for B4GALNT3 Gene

SuperPathways for B4GALNT3 Gene

SuperPathway Contained pathways
1 Metabolism
genes like me logo Genes that share pathways with B4GALNT3: view

Pathways by source for B4GALNT3 Gene

1 KEGG pathway for B4GALNT3 Gene

Interacting Proteins for B4GALNT3 Gene

Gene Ontology (GO) - Biological Process for B4GALNT3 Gene


No data available for SIGNOR curated interactions for B4GALNT3 Gene

Drugs & Compounds for B4GALNT3 Gene

(2) Drugs for B4GALNT3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine 5'-diphosphate Experimental Pharma 0
Chondroitin Nutra 48

(3) Additional Compounds for B4GALNT3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2-(acetylamino)-2-Deoxy-alpha-D-galactopyranose
  • alpha-GalNAc
  • alpha-GalpNAc
  • GalNAc-alpha
  • Tn
  • (2R,3R,4R,5R,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)
  • URIDINE-diphosphATE-N-acetylgalactosamine
  • (2R,3R,4R,5R,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 diphosphoric acid (non-preferred name)
  • UDP-N-Acetyl-a-D-galactosamine
  • UDP-N-Acetyl-α-D-galactosamine
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
genes like me logo Genes that share compounds with B4GALNT3: view

Transcripts for B4GALNT3 Gene

mRNA/cDNA for B4GALNT3 Gene

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

Unigene Clusters for B4GALNT3 Gene

Beta-1,4-N-acetyl-galactosaminyl transferase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALNT3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP2: -
SP4: -

Relevant External Links for B4GALNT3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for B4GALNT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B4GALNT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B4GALNT3 Gene

This gene is overexpressed in Stomach (x7.6).

Protein differential expression in normal tissues from HIPED for B4GALNT3 Gene

This gene is overexpressed in Liver (47.2) and Bone (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for B4GALNT3 Gene

Protein tissue co-expression partners for B4GALNT3 Gene

NURSA nuclear receptor signaling pathways regulating expression of B4GALNT3 Gene:


SOURCE GeneReport for Unigene cluster for B4GALNT3 Gene:


mRNA Expression by UniProt/SwissProt for B4GALNT3 Gene:

Tissue specificity: Highly expressed in testis, colon and stomach. Weakly expressed in other tissues.
genes like me logo Genes that share expression patterns with B4GALNT3: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALNT3 Gene

Orthologs for B4GALNT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALNT3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia B4GALNT3 34 33
  • 99.27 (n)
(Canis familiaris)
Mammalia B4GALNT3 34 33
  • 88.16 (n)
(Mus musculus)
Mammalia B4galnt3 16 34 33
  • 84.1 (n)
(Bos Taurus)
Mammalia B4GALNT3 34 33
  • 83.71 (n)
(Rattus norvegicus)
Mammalia B4galnt3 33
  • 83.2 (n)
(Monodelphis domestica)
Mammalia B4GALNT3 34
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia B4GALNT3 34
  • 65 (a)
(Gallus gallus)
Aves B4GALNT3 34 33
  • 69.33 (n)
(Anolis carolinensis)
Reptilia B4GALNT3 34
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galnt3 33
  • 64.66 (n)
Str.11923 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15475 33
(Danio rerio)
Actinopterygii b4galnt3b 34 33
  • 59.56 (n)
B4GALNT3 (2 of 3) 34
  • 41 (a)
b4galnt3a 34
  • 40 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG43313 34
  • 12 (a)
(Caenorhabditis elegans)
Secernentea mig-22 34
  • 11 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.937 34
  • 15 (a)
Species where no ortholog for B4GALNT3 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)
  • 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 B4GALNT3 Gene

Gene Tree for B4GALNT3 (if available)
Gene Tree for B4GALNT3 (if available)
Evolutionary constrained regions (ECRs) for B4GALNT3: view image

Paralogs for B4GALNT3 Gene

Paralogs for B4GALNT3 Gene

(1) SIMAP similar genes for B4GALNT3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with B4GALNT3: view

Variants for B4GALNT3 Gene

Sequence variations from dbSNP and Humsavar for B4GALNT3 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000002048 -- 521,584(+) G/A/C intron_variant
rs1000003491 -- 482,146(+) G/A/T intron_variant
rs1000004363 -- 549,365(+) G/T intron_variant
rs1000059183 -- 542,146(+) G/A intron_variant
rs1000062964 -- 505,447(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for B4GALNT3 Gene

Variant ID Type Subtype PubMed ID
dgv1332n100 CNV loss 25217958
dgv1333n100 CNV gain 25217958
dgv2247n54 CNV loss 21841781
dgv2248n54 CNV loss 21841781
dgv2249n54 CNV loss 21841781
dgv2250n54 CNV loss 21841781
dgv2251n54 CNV gain 21841781
esv1129945 CNV deletion 17803354
esv1142574 CNV deletion 17803354
esv1181627 CNV insertion 17803354
esv1270072 CNV deletion 17803354
esv21735 CNV loss 19812545
esv2210414 CNV deletion 18987734
esv2745354 CNV deletion 23290073
esv2745355 CNV deletion 23290073
esv2745356 CNV deletion 23290073
esv2745357 CNV deletion 23290073
esv2745358 CNV deletion 23290073
esv2745359 CNV deletion 23290073
esv2759875 CNV gain+loss 17122850
esv2762957 CNV gain 21179565
esv3374033 CNV duplication 20981092
esv3628236 CNV gain 21293372
esv3628239 CNV gain 21293372
esv3628240 CNV loss 21293372
esv3628241 CNV gain 21293372
esv3628242 CNV loss 21293372
esv3628243 CNV loss 21293372
esv3628244 CNV gain 21293372
esv3628245 CNV gain 21293372
esv3892121 CNV gain 25118596
esv3892123 CNV gain 25118596
nsv1040579 CNV gain 25217958
nsv1042529 CNV gain 25217958
nsv1046514 CNV gain 25217958
nsv1050781 CNV loss 25217958
nsv468948 CNV gain 19166990
nsv468951 CNV gain 19166990
nsv470254 CNV gain 18288195
nsv519441 CNV gain 19592680
nsv556876 CNV gain 21841781
nsv556877 CNV loss 21841781
nsv556885 CNV gain 21841781
nsv556886 CNV loss 21841781
nsv556887 CNV gain 21841781
nsv8885 CNV loss 18304495
nsv8886 CNV loss 18304495
nsv8887 CNV gain 18304495
nsv952780 CNV deletion 24416366

Variation tolerance for B4GALNT3 Gene

Residual Variation Intolerance Score: 87.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.56; 96.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B4GALNT3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALNT3 Gene

Disorders for B4GALNT3 Gene

Additional Disease Information for B4GALNT3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for B4GALNT3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B4GALNT3 Gene

Publications for B4GALNT3 Gene

  1. Molecular cloning and characterization of a novel human beta 1,4-N-acetylgalactosaminyltransferase, beta 4GalNAc-T3, responsible for the synthesis of N,N'-diacetyllactosediamine, galNAc beta 1-4GlcNAc. (PMID: 12966086) Sato T … Narimatsu H (The Journal of biological chemistry 2003) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest. (PMID: 20360844) Arking DE … Chugh SS (PloS one 2010) 3 44 58
  4. Apical Golgi localization of N,N'-diacetyllactosediamine synthase, beta4GalNAc-T3, is responsible for LacdiNAc expression on gastric mucosa. (PMID: 16728562) Ikehara Y … Narimatsu H (Glycobiology 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for B4GALNT3 Gene

Sources for B4GALNT3 Gene

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