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] See more...

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
  • Beta-1,4-N-Acetylgalactosaminyltransferase 3 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
  • EC 2.4.1.244 4
  • B4GalNac-T3 2
  • B4GALNT3 5
  • FLJ16224 2
  • FLJ40362 2

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. Diseases associated with B4GALNT3 include Epithelial Basement Membrane Dystrophy. Among its related pathways are N-Glycan biosynthesis and 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 Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GALNT3 Gene

Genomics for B4GALNT3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for B4GALNT3 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
GH12J000459 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 258.6 +0.8 761 3 EZH2 CEBPA ZIC2 KLF9 ZNF610 SP2 MBD1 ZBTB48 BHLHE40 ATF4 B4GALNT3 HSALNG0088483 NINJ2
GH12J000553 Promoter/Enhancer 0.9 Ensembl ENCODE dbSUPER 69.1 +93.8 93780 1 SPI1 POLR2A RUNX3 ETV6 B4GALNT3 piR-48392 lnc-B4GALNT3-4 NINJ2
GH12J000480 Enhancer 1 Ensembl ENCODE dbSUPER 55.1 +21.4 21362 2.2 ZNF600 ZIC2 ZNF341 SP2 SMAD4 ZBTB48 ZNF398 TRIM28 ZNF644 NFIL3 B4GALNT3 piR-55705-011 piR-42232 NINJ2
GH12J000547 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 24 +86.5 86463 1.6 ZNF654 MYC IKZF1 ZNF600 ZBTB10 YY1 CTCF REST DEK TRIM22 HSALNG0088490 B4GALNT3 IQSEC3 HSALNG0088489 HSALNG0088488 NINJ2
GH12J000464 Enhancer 1 FANTOM5 ENCODE dbSUPER 28.5 +5.5 5540 1.8 ZNF600 ZNF341 KLF9 GLIS1 PRDM4 EGR2 OSR2 MNT ZFHX2 ZBTB20 piR-42232 B4GALNT3 CCDC77 piR-55705-011 NINJ2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B4GALNT3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GALNT3

Top Transcription factor binding sites by QIAGEN in the B4GALNT3 gene promoter:
  • aMEF-2
  • Bach1
  • Evi-1
  • MEF-2
  • MEF-2A
  • NCX
  • Pax-5
  • POU2F1
  • POU2F1a
  • SEF-1 (1)

Genomic Locations for B4GALNT3 Gene

Latest Assembly
chr12:459,939-563,509
(GRCh38/hg38)
Size:
103,571 bases
Orientation:
Plus strand

Previous Assembly
chr12:569,105-672,675
(GRCh37/hg19 by Entrez Gene)
Size:
103,571 bases
Orientation:
Plus strand

chr12:569,530-672,675
(GRCh37/hg19 by Ensembl)
Size:
103,146 bases
Orientation:
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:
    Q6L9W6-B4GN3_HUMAN
    Recommended name:
    Beta-1,4-N-acetylgalactosaminyltransferase 3
    Protein Accession:
    Q6L9W6
    Secondary Accessions:
    • Q6ZNC1
    • Q8N7T6

    Protein attributes for B4GALNT3 Gene

    Size:
    998 amino acids
    Molecular mass:
    114975 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05141.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

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

Protein Domains for B4GALNT3 Gene

Suggested Antigen Peptide Sequences for B4GALNT3 Gene

GenScript: Design optimal peptide antigens:
  • Beta-1,4-N-acetylgalactosaminyltransferase III (B4GN3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6L9W6

UniProtKB/Swiss-Prot:

B4GN3_HUMAN :
  • Belongs to the chondroitin N-acetylgalactosaminyltransferase family.
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:
Reaction=an N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-alpha-D-galactosamine = an N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP; Xref=Rhea:RHEA:20493, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:61631, ChEBI:CHEBI:67138, ChEBI:CHEBI:138027; EC=2.4.1.244; Evidence={ECO:0000269|PubMed:12966086};.

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:

Inhibitory RNAs for research

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

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

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 B4GALNT3 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for B4GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with B4GALNT3: view

Pathways & Interactions for B4GALNT3 Gene

PathCards logo

SuperPathways for B4GALNT3 Gene

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

Pathways by source for B4GALNT3 Gene

Gene Ontology (GO) - Biological Process for B4GALNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with B4GALNT3: view

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 Pharma 80

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylgalactosamine
  • 2-(Acetylamino)-2-deoxy-alpha-D-galactopyranose
  • alpha-GalNAc
  • alpha-GalpNAc
  • GalNAc-alpha
  • Tn
1811-31-0
UDP-N-acetyl-alpha-D-galactosamine
  • (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)
  • UDP-GalNac
  • 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)
  • URIDINE-diphosphoric acid-N-acetylgalactosamine
Uridine diphosphate-N-acetylgalactosamine
  • Uridine diphosphoric acid-N-acetylgalactosamine
  • N-[2-({[({[3,4-dihydroxy-5-(4-hydroxy-2-oxo-1,2-dihydropyrimidin-1-yl)oxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxy](hydroxy)phosphoryl}oxy)-4,5-dihydroxy-6-(hydroxymethyl)oxan-3-yl]ethanimidate
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
7277-98-7
genes like me logo Genes that share compounds with B4GALNT3: view

Transcripts for B4GALNT3 Gene

mRNA/cDNA for B4GALNT3 Gene

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

Inhibitory RNAs for research

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

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
SP1:
SP2: -
SP3:
SP4: -
SP5:

Relevant External Links for B4GALNT3 Gene

GeneLoc Exon Structure for
B4GALNT3

Expression for B4GALNT3 Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B4GALNT3

SOURCE GeneReport for Unigene cluster for B4GALNT3 Gene:

Hs.504416

mRNA Expression by UniProt/SwissProt for B4GALNT3 Gene:

Q6L9W6-B4GN3_HUMAN
Tissue specificity: Highly expressed in testis, colon and stomach. Weakly expressed in other tissues.

Evidence on tissue expression from TISSUES for B4GALNT3 Gene

  • Stomach(2.4)
genes like me logo Genes that share expression patterns with B4GALNT3: view

Primer products for research

No data available for 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
Chimpanzee
(Pan troglodytes)
Mammalia B4GALNT3 29 30
  • 99.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia B4GALNT3 29 30
  • 88.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia B4galnt3 29 16 30
  • 84.1 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia B4GALNT3 29 30
  • 83.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia B4galnt3 29
  • 83.2 (n)
Oppossum
(Monodelphis domestica)
Mammalia B4GALNT3 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia B4GALNT3 30
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves B4GALNT3 29 30
  • 69.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia B4GALNT3 30
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia b4galnt3 29
  • 64.66 (n)
Str.11923 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.15475 29
Zebrafish
(Danio rerio)
Actinopterygii b4galnt3b 29 30
  • 59.56 (n)
OneToMany
B4GALNT3 (2 of 3) 30
  • 41 (a)
OneToMany
b4galnt3a 30
  • 40 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG43313 30
  • 12 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mig-22 30
  • 11 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.937 30
  • 15 (a)
OneToMany
Species where no ortholog for B4GALNT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for B4GALNT3 (if available)
TreeFam:
Gene Tree for B4GALNT3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B4GALNT3: view image
Alliance of Genome Resources:
Additional Orthologs for B4GALNT3

Paralogs for B4GALNT3 Gene

Paralogs for B4GALNT3 Gene

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

  • B4GN3_HUMAN
  • E9PHD9_HUMAN
genes like me logo Genes that share paralogs with B4GALNT3: view

Variants for B4GALNT3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GALNT3 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs138955406 Benign: not provided 556,741(+) G/T
NM_173593.4(B4GALNT3):c.2255G>T (p.Gly752Val)
MISSENSE
rs144955552 Benign: not provided 460,460(+) G/A
NM_173593.4(B4GALNT3):c.84G>A (p.Ala28=)
SYNONYMOUS
rs148613080 Benign: not provided 553,981(+) G/C
NM_173593.4(B4GALNT3):c.2058G>C (p.Arg686=)
SYNONYMOUS
rs151321644 Benign: not provided 553,529(+) C/T
NM_173593.4(B4GALNT3):c.1606C>T (p.His536Tyr)
MISSENSE
rs1592046695 Uncertain Significance: not provided 536,248(+) AACAG/A
NM_173593.4(B4GALNT3):c.305_308del (p.Asn102fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for B4GALNT3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
B4GALNT3
Leiden Open Variation Database (LOVD)
B4GALNT3

SNP Genotyping and Copy Number Assays for research

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

Disorders for B4GALNT3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for B4GALNT3 Gene - From: COP

Disorder Aliases PubMed IDs
epithelial basement membrane dystrophy
  • cogan corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for B4GALNT3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with B4GALNT3: view

No data available for 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
  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 40
  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 40
  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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for B4GALNT3 Gene

Sources for B4GALNT3 Gene