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Aliases for A3GALT2 Gene

Aliases for A3GALT2 Gene

  • Alpha 1,3-Galactosyltransferase 2 2 3 5
  • Isoglobotriaosylceramide Synthase 2 3 4
  • IGb3 Synthase 2 3 4
  • Alpha 1,3-Galactosyltransferase 2, Pseudogene 2 3
  • A3GALT2P 3 4
  • IGBS3S 3 4
  • IGB3S 3 4
  • Alpha-1,3-Galactosyltransferase 2 3
  • EC 2.4.1.87 4

External Ids for A3GALT2 Gene

Previous HGNC Symbols for A3GALT2 Gene

  • A3GALT2P

Previous GeneCards Identifiers for A3GALT2 Gene

  • GC01M033442
  • GC01M033544
  • GC01M033772

Summaries for A3GALT2 Gene

GeneCards Summary for A3GALT2 Gene

A3GALT2 (Alpha 1,3-Galactosyltransferase 2) is a Protein Coding gene. Among its related pathways are Glycosphingolipid biosynthesis - ganglio series and Globo Sphingolipid Metabolism. GO annotations related to this gene include transferase activity, transferring glycosyl groups and alpha-1,3-galactosyltransferase activity. An important paralog of this gene is ABO.

UniProtKB/Swiss-Prot for A3GALT2 Gene

  • Synthesizes the galactose-alpha(1,3)-galactose group on the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3 (iGb3) by catalyzing the transfer of galactose from UDP-Galactose to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can also catalyze the addition of galactose to iGb3 itself to form polygalactose structures.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for A3GALT2 Gene

Genomics for A3GALT2 Gene

Regulatory Elements for A3GALT2 Gene

Enhancers for A3GALT2 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
GH01F033326 0.6 Ensembl ENCODE 19.4 -7.2 -7216 3.1 CTCF ZNF362 RFX1 BHLHE40 SIN3A CEBPB JUND FOS A3GALT2 PHC2 GC01M033323 GC01M033324 RN7SKP16
GH01F033424 0.5 Ensembl 19.4 -103.5 -103503 0.8 OSR2 JUND RFX1 ZNF600 A3GALT2 MIR3605 PHC2 GC01P033403
GH01F033429 0.4 ENCODE 19.4 -109.6 -109580 2.1 ZNF76 SIN3A ZNF48 RAD21 GLIS2 EGR1 ZNF366 FOS NFYA NFYC A3GALT2 PHC2 MIR3605 GC01P033403
GH01F033431 0.4 ENCODE 19.4 -112.9 -112859 4.0 PKNOX1 ATF1 ARID4B SIN3A FOS YY2 KAT8 MIER3 SMARCA4 PBX2 A3GALT2 PHC2 MIR3605 GC01M033423
GH01F033436 0.2 ENCODE 19.4 -115.9 -115855 0.9 PKNOX1 MTA2 NR2F1 TAL1 TRIM22 TBX21 RARA ARID1B ZNF766 SMARCA4 A3GALT2 PHC2 MIR3605 GC01M033423
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around A3GALT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for A3GALT2 Gene

Chromosome:
1
Start:
33,306,766 bp from pter
End:
33,321,098 bp from pter
Size:
14,333 bases
Orientation:
Minus strand

Genomic View for A3GALT2 Gene

Genes around A3GALT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
A3GALT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for A3GALT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for A3GALT2 Gene

Proteins for A3GALT2 Gene

  • Protein details for A3GALT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    U3KPV4-A3LT2_HUMAN
    Recommended name:
    Alpha-1,3-galactosyltransferase 2
    Protein Accession:
    U3KPV4

    Protein attributes for A3GALT2 Gene

    Size:
    340 amino acids
    Molecular mass:
    38754 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for A3GALT2 Gene

Post-translational modifications for A3GALT2 Gene

No Post-translational modifications

Other Protein References for A3GALT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for A3GALT2 Gene

Domains & Families for A3GALT2 Gene

Gene Families for A3GALT2 Gene

Protein Domains for A3GALT2 Gene

Graphical View of Domain Structure for InterPro Entry

U3KPV4

UniProtKB/Swiss-Prot:

A3LT2_HUMAN :
  • The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis (By similarity).
  • Belongs to the glycosyltransferase 6 family.
Domain:
  • The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis (By similarity).
Family:
  • Belongs to the glycosyltransferase 6 family.
genes like me logo Genes that share domains with A3GALT2: view

No data available for Suggested Antigen Peptide Sequences for A3GALT2 Gene

Function for A3GALT2 Gene

Molecular function for A3GALT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + beta-D-galactosyl-(1->4)-beta-N-acetyl-D-glucosaminyl-R = UDP + alpha-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-N-acetylglucosaminyl-R.
UniProtKB/Swiss-Prot Function:
Synthesizes the galactose-alpha(1,3)-galactose group on the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3 (iGb3) by catalyzing the transfer of galactose from UDP-Galactose to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can also catalyze the addition of galactose to iGb3 itself to form polygalactose structures.

Enzyme Numbers (IUBMB) for A3GALT2 Gene

Gene Ontology (GO) - Molecular Function for A3GALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001962 NOT alpha-1,3-galactosyltransferase activity IDA 18630988
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA,IBA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with A3GALT2: view

Phenotypes for A3GALT2 Gene

MGI mutant phenotypes for A3GALT2:
inferred from 1 alleles
GenomeRNAi human phenotypes for A3GALT2:
genes like me logo Genes that share phenotypes with A3GALT2: view

Animal Models for A3GALT2 Gene

MGI Knock Outs for A3GALT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for A3GALT2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for A3GALT2 Gene

Localization for A3GALT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for A3GALT2 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Also found in numerous large vesicles throughout the cytoplasm of the soma. {ECO:0000250 UniProtKB:A0A4Z3}.

Gene Ontology (GO) - Cellular Components for A3GALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IEA,IBA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with A3GALT2: view

No data available for Subcellular locations from COMPARTMENTS for A3GALT2 Gene

Pathways & Interactions for A3GALT2 Gene

genes like me logo Genes that share pathways with A3GALT2: view

Pathways by source for A3GALT2 Gene

Interacting Proteins for A3GALT2 Gene

Gene Ontology (GO) - Biological Process for A3GALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006688 glycosphingolipid biosynthetic process IEA --
GO:0009247 glycolipid biosynthetic process IBA --
GO:0030259 lipid glycosylation IEA,IBA --
genes like me logo Genes that share ontologies with A3GALT2: view

No data available for SIGNOR curated interactions for A3GALT2 Gene

Transcripts for A3GALT2 Gene

mRNA/cDNA for A3GALT2 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for A3GALT2 Gene

No ASD Table

Relevant External Links for A3GALT2 Gene

GeneLoc Exon Structure for
A3GALT2
ECgene alternative splicing isoforms for
A3GALT2

Expression for A3GALT2 Gene

mRNA expression in normal human tissues for A3GALT2 Gene

mRNA differential expression in normal tissues according to GTEx for A3GALT2 Gene

This gene is overexpressed in Whole Blood (x8.3) and Testis (x4.5).

NURSA nuclear receptor signaling pathways regulating expression of A3GALT2 Gene:

A3GALT2

mRNA Expression by UniProt/SwissProt for A3GALT2 Gene:

U3KPV4-A3LT2_HUMAN
Tissue specificity: Expressed in thymus and monocyte derived dendritic cells.
genes like me logo Genes that share expression patterns with A3GALT2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for A3GALT2 Gene

Orthologs for A3GALT2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for A3GALT2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia A3GALT2 34 35
  • 89.41 (n)
cow
(Bos Taurus)
Mammalia A3GALT2 34 35
  • 86.96 (n)
rat
(Rattus norvegicus)
Mammalia A3galt2 34
  • 77.68 (n)
mouse
(Mus musculus)
Mammalia A3galt2 34 16 35
  • 77.38 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 41 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 40 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia ABO 35
  • 37 (a)
ManyToMany
Species where no ortholog for A3GALT2 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for A3GALT2 Gene

ENSEMBL:
Gene Tree for A3GALT2 (if available)
TreeFam:
Gene Tree for A3GALT2 (if available)

Paralogs for A3GALT2 Gene

Paralogs for A3GALT2 Gene

(4) SIMAP similar genes for A3GALT2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for A3GALT2 Gene

genes like me logo Genes that share paralogs with A3GALT2: view

Variants for A3GALT2 Gene

Sequence variations from dbSNP and Humsavar for A3GALT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10649873 -- 33,313,171(+) GTGAC(-/TG/TGG/TGGG)GGAGT intron-variant
rs10662364 -- 33,313,185(+) TTTTT(-/TTTTT)TTTTT intron-variant
rs10753280 -- 33,309,151(+) GGAGT(A/C)TCCTA intron-variant
rs10914679 -- 33,309,410(+) CCTCC(C/T)TCCCG intron-variant
rs10914680 -- 33,309,482(+) CGGGC(A/G)GGGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for A3GALT2 Gene

Variant ID Type Subtype PubMed ID
esv2659665 CNV deletion 23128226
esv3585683 CNV loss 21293372
nsv1076362 CNV deletion 25765185
nsv1136074 CNV deletion 24896259
nsv516693 CNV loss 19592680
nsv522364 CNV loss 19592680
nsv545963 CNV loss 21841781

Variation tolerance for A3GALT2 Gene

Gene Damage Index Score: 3.54; 55.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for A3GALT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
A3GALT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for A3GALT2 Gene

Disorders for A3GALT2 Gene

Relevant External Links for A3GALT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
A3GALT2

No disorders were found for A3GALT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for A3GALT2 Gene

Publications for A3GALT2 Gene

  1. Humans lack iGb3 due to the absence of functional iGb3-synthase: implications for NKT cell development and transplantation. (PMID: 18630988) Christiansen D. … Sandrin M.S. (PLoS Biol. 2008) 2 3 4 64
  2. Lack of iGb3 and Isoglobo-Series Glycosphingolipids in Pig Organs Used for Xenotransplantation: Implications for Natural Killer T-Cell Biology. (PMID: 23378701) Tahiri F. … Zhou D. (J Carbohydr Chem 2013) 3 4 64
  3. Sensitive detection of isoglobo and globo series tetraglycosylceramides in human thymus by ion trap mass spectrometry. (PMID: 18056651) Li Y. … Zhou D. (Glycobiology 2008) 22 64
  4. Structural basis of UDP-galactose binding by alpha-1,3-galactosyltransferase (alpha3GT): role of negative charge on aspartic acid 316 in structure and activity. (PMID: 18651752) Tumbale P. … Acharya K.R. (Biochemistry 2008) 22 64
  5. Carbohydrate residues downstream of the terminal Galalpha(1,3)Gal epitope modulate the specificity of xenoreactive antibodies. (PMID: 17724458) Milland J. … Sandrin M.S. (Immunol. Cell Biol. 2007) 22 64

Products for A3GALT2 Gene

Sources for A3GALT2 Gene

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