Free for academic non-profit institutions. Other users need a Commercial license

Aliases for B3GALT2 Gene

Aliases for B3GALT2 Gene

  • Beta-1,3-Galactosyltransferase 2 2 3 5
  • UDP-Galactose:2-Acetamido-2-Deoxy-D-Glucose 3beta-Galactosyltransferase 2 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 2 2 3
  • Beta-1,3-GalTase 2 3 4
  • Beta3Gal-T2 3 4
  • BETA3GALT2 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase 2 2
  • Beta-3-Galt2 3
  • EC 2.4.1.86 4
  • EC 2.4.1 61
  • GLCT2 3

External Ids for B3GALT2 Gene

Previous GeneCards Identifiers for B3GALT2 Gene

  • GC01M190938
  • GC01M188662
  • GC01M189614
  • GC01M190436
  • GC01M189879
  • GC01M191414
  • GC01M164383

Summaries for B3GALT2 Gene

Entrez Gene Summary for B3GALT2 Gene

  • This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]

GeneCards Summary for B3GALT2 Gene

B3GALT2 (Beta-1,3-Galactosyltransferase 2) is a Protein Coding gene. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - lacto and neolacto series. GO annotations related to this gene include galactosyltransferase activity and UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity. An important paralog of this gene is B3GALT1.

UniProtKB/Swiss-Prot for B3GALT2 Gene

  • Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GALT2 Gene

Genomics for B3GALT2 Gene

Regulatory Elements for B3GALT2 Gene

Enhancers for B3GALT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G193120 1.5 FANTOM5 ENCODE 9.5 +64.3 64325 3.5 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC SSRP1 ZNF101P2 ENSG00000231767 B3GALT2 CDC73 LOC101929160
GH01G193109 1.3 Ensembl ENCODE 9.6 +73.4 73366 6.8 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B FEZF1 YY1 FOS CDC73 ENSG00000231767 B3GALT2 GLRX2
GH01G193183 1.1 Ensembl ENCODE 10.5 -0.2 -153 7.4 PKNOX1 ATF1 SIN3A RAD21 RFX5 ZNF138 ZNF143 ZNF654 TBX21 PRDM6 CDC73 MIR1278 B3GALT2 UCHL5 ENSG00000276735
GH01G193103 1.1 ENCODE 8.8 +81.6 81602 2.8 HDGF FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF766 FOS SP3 SP5 B3GALT2 UCHL5 GLRX2 ENSG00000272579
GH01G193057 1.4 ENCODE dbSUPER 5.8 +127.3 127316 4.6 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ENSG00000231767 B3GALT2 UCHL5 SCARNA18B TROVE2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around B3GALT2 on UCSC Golden Path with GeneCards custom track

Promoters for B3GALT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000017501 1053 2000 PKNOX1 GATA3 POLR2A SMARCA4 ZSCAN5C SIN3A EP300 ZBTB20

Genomic Location for B3GALT2 Gene

Chromosome:
1
Start:
193,178,730 bp from pter
End:
193,186,654 bp from pter
Size:
7,925 bases
Orientation:
Minus strand

Genomic View for B3GALT2 Gene

Genes around B3GALT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GALT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GALT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GALT2 Gene

Proteins for B3GALT2 Gene

  • Protein details for B3GALT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43825-B3GT2_HUMAN
    Recommended name:
    Beta-1,3-galactosyltransferase 2
    Protein Accession:
    O43825
    Secondary Accessions:
    • B2RAB1
    • Q9BZQ9

    Protein attributes for B3GALT2 Gene

    Size:
    422 amino acids
    Molecular mass:
    49213 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for B3GALT2 Gene

Selected DME Specific Peptides for B3GALT2 Gene

O43825:
  • YHDIIQQ
  • FCSGTGY
  • AIRQTWG
  • VMKTDSD

Post-translational modifications for B3GALT2 Gene

  • Glycosylation at Asn75, Asn100, Asn119, posLast=176176, and Asn226
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GALT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for B3GALT2 Gene

Gene Families for B3GALT2 Gene

Protein Domains for B3GALT2 Gene

Suggested Antigen Peptide Sequences for B3GALT2 Gene

Graphical View of Domain Structure for InterPro Entry

O43825

UniProtKB/Swiss-Prot:

B3GT2_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GALT2: view

Function for B3GALT2 Gene

Molecular function for B3GALT2 Gene

GENATLAS Biochemistry:
UDP galactose
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=90 uM for UDP-alpha-D-galactose {ECO:0000269 PubMed:9582303};
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = UDP + beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.
UniProtKB/Swiss-Prot Function:
Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues.

Enzyme Numbers (IUBMB) for B3GALT2 Gene

Gene Ontology (GO) - Molecular Function for B3GALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008378 galactosyltransferase activity IEA --
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity TAS,IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0047275 glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity IEA --
genes like me logo Genes that share ontologies with B3GALT2: view
genes like me logo Genes that share phenotypes with B3GALT2: view

Animal Models for B3GALT2 Gene

MGI Knock Outs for B3GALT2:

Animal Model Products

miRNA for B3GALT2 Gene

miRTarBase miRNAs that target B3GALT2

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B3GALT2 Gene

Localization for B3GALT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GALT2 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 B3GALT2 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for B3GALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
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 B3GALT2: view

Pathways & Interactions for B3GALT2 Gene

genes like me logo Genes that share pathways with B3GALT2: view

Pathways by source for B3GALT2 Gene

UniProtKB/Swiss-Prot O43825-B3GT2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B3GALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation TAS,IEA --
GO:0009312 oligosaccharide biosynthetic process IEA --
genes like me logo Genes that share ontologies with B3GALT2: view

No data available for SIGNOR curated interactions for B3GALT2 Gene

Drugs & Compounds for B3GALT2 Gene

(1) Drugs for B3GALT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
genes like me logo Genes that share compounds with B3GALT2: view

Transcripts for B3GALT2 Gene

mRNA/cDNA for B3GALT2 Gene

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

Unigene Clusters for B3GALT2 Gene

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALT2 Gene

No ASD Table

Relevant External Links for B3GALT2 Gene

GeneLoc Exon Structure for
B3GALT2
ECgene alternative splicing isoforms for
B3GALT2

Expression for B3GALT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B3GALT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B3GALT2 Gene

This gene is overexpressed in Heart - Left Ventricle (x8.0), Brain - Anterior cingulate cortex (BA24) (x6.3), Brain - Frontal Cortex (BA9) (x5.9), and Brain - Cortex (x4.6).

NURSA nuclear receptor signaling pathways regulating expression of B3GALT2 Gene:

B3GALT2

SOURCE GeneReport for Unigene cluster for B3GALT2 Gene:

Hs.518834

mRNA Expression by UniProt/SwissProt for B3GALT2 Gene:

O43825-B3GT2_HUMAN
Tissue specificity: Detected in heart and brain.

Evidence on tissue expression from TISSUES for B3GALT2 Gene

  • Nervous system(4.7)
  • Heart(2)
genes like me logo Genes that share expression patterns with B3GALT2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GALT2 Gene

Orthologs for B3GALT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for B3GALT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GALT2 34 35
  • 99.84 (n)
oppossum
(Monodelphis domestica)
Mammalia B3GALT2 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B3GALT2 34 35
  • 94.55 (n)
cow
(Bos Taurus)
Mammalia B3GALT2 34 35
  • 91.94 (n)
rat
(Rattus norvegicus)
Mammalia B3galt2 34
  • 91.31 (n)
mouse
(Mus musculus)
Mammalia B3galt2 34 16 35
  • 89.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia B3GALT2 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves B3GALT2 34 35
  • 81.04 (n)
lizard
(Anolis carolinensis)
Reptilia B3GALT2 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487440 34
  • 75.69 (n)
zebrafish
(Danio rerio)
Actinopterygii b3galt2 34 35
  • 64.51 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GALT1 34
  • 43.09 (n)
rice
(Oryza sativa)
Liliopsida Os06g0229200 34
  • 44.22 (n)
Species where no ortholog for B3GALT2 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for B3GALT2 Gene

ENSEMBL:
Gene Tree for B3GALT2 (if available)
TreeFam:
Gene Tree for B3GALT2 (if available)

Paralogs for B3GALT2 Gene

(6) SIMAP similar genes for B3GALT2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with B3GALT2: view

Variants for B3GALT2 Gene

Sequence variations from dbSNP and Humsavar for B3GALT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs41265203 Likely benign 193,181,196(+) ATTGT(A/C/G)AATAC intron-variant, reference, missense
rs1000589387 -- 193,182,683(+) GCATA(C/T)ATTAA intron-variant
rs1000875810 -- 193,182,865(+) TTGAC(A/G)AGGAG intron-variant
rs1001207084 -- 193,184,517(+) TGTGG(A/G)TGAAG intron-variant
rs1001880314 -- 193,183,180(+) GAAAG(C/T)GTTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B3GALT2 Gene

Variant ID Type Subtype PubMed ID
dgv131e212 CNV gain 25503493
esv275335 CNV gain+loss 21479260
nsv466994 CNV loss 19166990
nsv548658 CNV loss 21841781
nsv832148 CNV gain 17160897

Variation tolerance for B3GALT2 Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B3GALT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GALT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALT2 Gene

Disorders for B3GALT2 Gene

Relevant External Links for B3GALT2

Genetic Association Database (GAD)
B3GALT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B3GALT2

No disorders were found for B3GALT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B3GALT2 Gene

Publications for B3GALT2 Gene

  1. A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta- nacetyl-galactosamine beta-1,3-galactosyltransferase family. (PMID: 9582303) Amado M. … Clausen H. (J. Biol. Chem. 1998) 2 3 4 22 64
  2. Cloning of a human UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta- galactosyltransferase catalyzing the formation of type 1 chains. (PMID: 9417100) Kolbinger F. … Katopodis A.G. (J. Biol. Chem. 1998) 2 3 4 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PMID: 11318611) Sood R. … Carpten J.D. (Genomics 2001) 3 4 64

Products for B3GALT2 Gene

Sources for B3GALT2 Gene

Content
Loading form....