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Aliases for B4GALT2 Gene

Aliases for B4GALT2 Gene

  • Beta-1,4-Galactosyltransferase 2 2 3 5
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 2 3 4
  • UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 2 3 4
  • Beta-1,4-GalTase 2 3 4
  • Beta4Gal-T2 3 4
  • B4Gal-T2 3 4
  • Beta-N-Acetylglucosaminyl-Glycolipid Beta-1,4-Galactosyltransferase 2 3
  • UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 2 2
  • UDP-Gal:BetaGlcNAc Beta 1,4-Galactosyltransferase, Polypeptide 2 3
  • UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase 2 3
  • Beta-4-GalT2 3
  • EC 2.4.1.- 4
  • B4Gal-T3 3

External Ids for B4GALT2 Gene

Previous GeneCards Identifiers for B4GALT2 Gene

  • GC01P044283
  • GC01P043445
  • GC01P043875
  • GC01P043858
  • GC01P044114
  • GC01P044217
  • GC01P044444
  • GC01P042560

Summaries for B4GALT2 Gene

Entrez Gene Summary for B4GALT2 Gene

  • This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

GeneCards Summary for B4GALT2 Gene

B4GALT2 (Beta-1,4-Galactosyltransferase 2) is a Protein Coding gene. Among its related pathways are Mannose type O-glycan biosynthesis and terminal O-glycans residues modification. GO annotations related to this gene include galactosyltransferase activity and N-acetyllactosamine synthase activity. An important paralog of this gene is B4GALT1.

UniProtKB/Swiss-Prot for B4GALT2 Gene

  • Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Can produce lactose.

Gene Wiki entry for B4GALT2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALT2 Gene

Genomics for B4GALT2 Gene

Regulatory Elements for B4GALT2 Gene

Enhancers for B4GALT2 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
GH01G043912 1.4 FANTOM5 ENCODE dbSUPER 6.3 -65.0 -64994 3.8 ELF3 CTCF ESRRA RB1 TEAD4 ARID4B ZIC2 ZNF2 RAD21 ZNF316 ARTN LOC101929592 CCDC24 B4GALT2 ST3GAL3 ENSG00000225721 SLC6A9 GC01M043857
GH01G044027 1.4 ENCODE dbSUPER 5.6 +51.6 51561 5.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF143 ZNF207 IPO13 DPH2 ARTN CCDC24 B4GALT2 SLC6A9 ENSG00000230615
GH01G044047 1.5 Ensembl ENCODE dbSUPER 4.7 +70.0 70034 3.5 HDGF PKNOX1 ATF1 ARNT SIN3A ARID4B TCF12 CBX5 ELK1 GATA2 IPO13 LOC101929609 KDM4A SZT2 RPS8 ARTN ENSG00000230615 B4GALT2 KLF17 ENSG00000227163
GH01G044549 0.9 dbSUPER 4.7 +571.0 570962 1.5 HDGF HDAC1 ATF1 CBX3 CREB3L1 RB1 ARNT ARID4B ZNF2 RAD21 ERI3 RNU6-369P RNF220 B4GALT2 ATP6V0B MIR5584 PIR47647
GH01G043921 0.8 ENCODE dbSUPER 4.8 -57.0 -57043 1.4 CTCF JUND MAFK TCF7L2 ATP6V0B ARTN B4GALT2 ST3GAL3 GC01M043857
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around B4GALT2 on UCSC Golden Path with GeneCards custom track

Promoters for B4GALT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005683 457 1201 HDGF CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 GLI4 ZNF48 ZNF121

Genomic Location for B4GALT2 Gene

Chromosome:
1
Start:
43,978,943 bp from pter
End:
43,991,171 bp from pter
Size:
12,229 bases
Orientation:
Plus strand

Genomic View for B4GALT2 Gene

Genes around B4GALT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B4GALT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALT2 Gene

Proteins for B4GALT2 Gene

  • Protein details for B4GALT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60909-B4GT2_HUMAN
    Recommended name:
    Beta-1,4-galactosyltransferase 2
    Protein Accession:
    O60909
    Secondary Accessions:
    • B3KTP0
    • B4DE14
    • D3DPY6
    • D3DPY7
    • O60511
    • Q4V9L9
    • Q5T4X5
    • Q5T4Y5
    • Q9BUP6
    • Q9NSY7

    Protein attributes for B4GALT2 Gene

    Size:
    372 amino acids
    Molecular mass:
    41972 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for B4GALT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B4GALT2 Gene

Post-translational modifications for B4GALT2 Gene

  • Glycosylation at Asn66, Asn71, and Asn357
  • Modification sites at PhosphoSitePlus

Other Protein References for B4GALT2 Gene

No data available for DME Specific Peptides for B4GALT2 Gene

Domains & Families for B4GALT2 Gene

Gene Families for B4GALT2 Gene

Suggested Antigen Peptide Sequences for B4GALT2 Gene

Graphical View of Domain Structure for InterPro Entry

O60909

UniProtKB/Swiss-Prot:

B4GT2_HUMAN :
  • Belongs to the glycosyltransferase 7 family.
Family:
  • Belongs to the glycosyltransferase 7 family.
genes like me logo Genes that share domains with B4GALT2: view

Function for B4GALT2 Gene

Molecular function for B4GALT2 Gene

GENATLAS Biochemistry:
UDP galactose
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=71 uM for GlcNAc-B-S-pNP {ECO:0000269 PubMed:11588157};
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + D-glucose = UDP + lactose.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminylglycopeptide = UDP + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminylglycopeptide.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine.
UniProtKB/Swiss-Prot Function:
Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Can produce lactose.

Enzyme Numbers (IUBMB) for B4GALT2 Gene

Gene Ontology (GO) - Molecular Function for B4GALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity TAS --
GO:0003945 N-acetyllactosamine synthase activity IEA --
GO:0004461 lactose synthase activity IEA --
GO:0008378 galactosyltransferase activity TAS 9405390
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with B4GALT2: view
genes like me logo Genes that share phenotypes with B4GALT2: view

Animal Models for B4GALT2 Gene

MGI Knock Outs for B4GALT2:

Animal Model Products

miRNA for B4GALT2 Gene

miRTarBase miRNAs that target B4GALT2

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B4GALT2 Gene

Localization for B4GALT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALT2 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans cisternae of Golgi stack.

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 B4GALT2 gene
Compartment Confidence
golgi apparatus 5
nucleus 4
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for B4GALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B4GALT2: view

Pathways & Interactions for B4GALT2 Gene

genes like me logo Genes that share pathways with B4GALT2: view

UniProtKB/Swiss-Prot O60909-B4GT2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B4GALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0007420 brain development IEA --
GO:0007613 memory IEA --
GO:0007626 locomotory behavior IEA --
genes like me logo Genes that share ontologies with B4GALT2: view

No data available for SIGNOR curated interactions for B4GALT2 Gene

Drugs & Compounds for B4GALT2 Gene

(7) Drugs for B4GALT2 Gene - From: DrugBank, PharmGKB, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved Nutra Target 0
Clopidogrel Approved Nutra P2Y12 receptor antagonist 778
D-glucose Approved Pharma 0
lactose Approved Pharma 0
Manganese Approved Nutra 34

(2) Additional Compounds for B4GALT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-Lactose
  • beta-D-Galactopyranosyl-(1->4)-beta-D-glucopyranose
  • beta-D-Galactopyranosyl-(1->4)-beta-D-glucose
  • beta-Lactose
5965-66-2
n-acetyllactosamine
  • beta-D-Galactosyl-1,4-N-acetyl-beta-D-glucosamine
  • beta-D-Galactosyl-1,4-N-acetyl-D-glucosamine
  • beta-delta-Galactosyl-1,4-N-acetyl-beta-delta-glucosamine
  • beta-delta-Galactosyl-1,4-N-acetyl-delta-glucosamine
  • D-Galactopyranosyl
32181-59-2
genes like me logo Genes that share compounds with B4GALT2: view

Transcripts for B4GALT2 Gene

Unigene Clusters for B4GALT2 Gene

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6: -

Relevant External Links for B4GALT2 Gene

GeneLoc Exon Structure for
B4GALT2
ECgene alternative splicing isoforms for
B4GALT2

Expression for B4GALT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B4GALT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B4GALT2 Gene

This gene is overexpressed in Pancreas (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for B4GALT2 Gene



Protein tissue co-expression partners for B4GALT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of B4GALT2 Gene:

B4GALT2

SOURCE GeneReport for Unigene cluster for B4GALT2 Gene:

Hs.632403

mRNA Expression by UniProt/SwissProt for B4GALT2 Gene:

O60909-B4GT2_HUMAN
Tissue specificity: Weakly expressed in various tissues. Highest expression in prostate, testis, ovary, intestine, muscle, and in fetal brain.

Evidence on tissue expression from TISSUES for B4GALT2 Gene

  • Nervous system(2.4)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with B4GALT2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALT2 Gene

Orthologs for B4GALT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B4GALT2 34 35
  • 99 (n)
dog
(Canis familiaris)
Mammalia B4GALT2 34 35
  • 92.04 (n)
cow
(Bos Taurus)
Mammalia B4GALT2 34 35
  • 91.24 (n)
mouse
(Mus musculus)
Mammalia B4galt2 34 16 35
  • 89.97 (n)
rat
(Rattus norvegicus)
Mammalia B4galt2 34
  • 89.25 (n)
oppossum
(Monodelphis domestica)
Mammalia B4GALT2 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT2 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves B4GALT2 34 35
  • 75.27 (n)
lizard
(Anolis carolinensis)
Reptilia B4GALT2 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galt2 34
  • 69.43 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100148828 34
  • 69.47 (n)
b4galt2 35
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004781 34
  • 53.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta beta4GalNAcTA 34 35
  • 50.06 (n)
BcDNA:GH13356 36
  • 39 (a)
CG14517 36
  • 38 (a)
beta4GalNAcTB 35
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea bre-4 34 35
  • 47.77 (n)
Y73E7A.7 36
  • 43 (a)
W02B12.11 36
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13709 34
Species where no ortholog for B4GALT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 B4GALT2 Gene

ENSEMBL:
Gene Tree for B4GALT2 (if available)
TreeFam:
Gene Tree for B4GALT2 (if available)

Paralogs for B4GALT2 Gene

Paralogs for B4GALT2 Gene

(5) SIMAP similar genes for B4GALT2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with B4GALT2: view

Variants for B4GALT2 Gene

Sequence variations from dbSNP and Humsavar for B4GALT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000164461 -- 43,984,042(+) GTCAG(C/T)GCCTC intron-variant
rs1000321309 -- 43,977,378(+) AGGGG(-/CTCT)CTATT intron-variant, upstream-variant-2KB, reference, frameshift-variant
rs1000572528 -- 43,977,741(+) TGACT(C/G)AGTTG intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1000619779 -- 43,983,858(+) TGGCA(C/G)GGCTG intron-variant
rs1000661808 -- 43,989,698(+) GCTGG(C/T)TAGAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for B4GALT2 Gene

Variant ID Type Subtype PubMed ID
nsv1078381 CNV deletion 25765185
nsv546141 CNV loss 21841781
nsv546142 CNV loss 21841781
nsv732 CNV insertion 18451855

Variation tolerance for B4GALT2 Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.96; 68.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B4GALT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
B4GALT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT2 Gene

Disorders for B4GALT2 Gene

Relevant External Links for B4GALT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B4GALT2

No disorders were found for B4GALT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B4GALT2 Gene

Publications for B4GALT2 Gene

  1. A family of human beta4-galactosyltransferases. Cloning and expression of two novel UDP-galactose:beta-n-acetylglucosamine beta1, 4-galactosyltransferases, beta4Gal-T2 and beta4Gal-T3. (PMID: 9405390) Almeida R. … Clausen H. (J. Biol. Chem. 1997) 2 3 4 22 64
  2. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PMID: 9597550) Lo N.-W. … Shaper N.L. (Glycobiology 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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

Products for B4GALT2 Gene

Sources for B4GALT2 Gene

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