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
  • Alpha-1,3-Galactosyltransferase 2 3 4
  • A3GALT2P 3 4
  • IGBS3S 3 4
  • EC 2.4.1.87 4
  • IGB3S 3
  • IGb3S 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 Globo Sphingolipid Metabolism and Metabolism. Gene Ontology (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 Summary 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.

Additional gene information for A3GALT2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for A3GALT2 Gene

Genomics for A3GALT2 Gene

GeneHancer (GH) Regulatory Elements for A3GALT2 Gene

Promoters and enhancers for A3GALT2 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
GH01J033320 Enhancer 0.4 dbSUPER 500.7 0.0 -6 0.8 POLR2G POLR2A PKNOX1 ZFP69B SIN3A A3GALT2 PHC2 lnc-A3GALT2-4 ENSG00000225313
GH01J033337 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 31.8 -23.1 -23131 14.1 EP300 FOXK2 ZBTB40 ZSCAN5C SIN3A NRF1 TCF12 POLR2G NCOR1 GTF2E2 PHC2 A3GALT2 ENSG00000225313 S100PBP TRIM62 AK2 RNF19B PHC2-AS1 RN7SKP16 lnc-A3GALT2-5
GH01J033429 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.4 -111.4 -111371 6.9 EP300 ZSCAN5C NRF1 TCF12 MYC USF1 SP1 GTF2E2 JUND FOS PHC2 lnc-PHC2-4 RBBP4 A3GALT2 ZBTB8A ZSCAN20 ZBTB8B S100PBP CSMD2 TLR12P
GH01J033254 Promoter/Enhancer 2.3 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas 13.1 +63.9 63908 4.4 EP300 TCF12 POLR2G NCOR1 PHF8 FOS ZFX ZNF10 ZIC2 POLR2A ZNF362 piR-35146 A3GALT2 ENSG00000270115
GH01J033376 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.2 -64.6 -64569 18.9 HNRNPK EP300 USF1 JUND FOS RFX1 TEAD1 RBM25 CEBPB ZNF316 PHC2 A3GALT2 TRIM62 lnc-ZSCAN20-2 piR-55627-003 lnc-PHC2-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around A3GALT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for A3GALT2

Top Transcription factor binding sites by QIAGEN in the A3GALT2 gene promoter:
  • COMP1
  • En-1
  • ER-alpha
  • NF-kappaB
  • NF-kappaB1
  • POU2F1
  • POU2F1a
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for A3GALT2 Gene

Genomic Locations for A3GALT2 Gene
chr1:33,306,766-33,321,098
(GRCh38/hg38)
Size:
14,333 bases
Orientation:
Minus strand
chr1:33,772,367-33,786,699
(GRCh37/hg19)
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

  • Glycosylation at Asn58 and Asn100

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

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

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = an alpha-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP; Xref=Rhea:RHEA:13013, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:133507, ChEBI:CHEBI:138024; EC=2.4.1.87; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13014; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = H(+) + isogloboside iGb3Cer (d18:1(4E)) + UDP; Xref=Rhea:RHEA:42000, ChEBI:CHEBI:15378, ChEBI:CHEBI:17950, ChEBI:CHEBI:52570, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42001; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=globoside Gb3Cer + UDP-alpha-D-galactose = GalGb3Cer + H(+) + UDP; Xref=Rhea:RHEA:56740, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:88154, ChEBI:CHEBI:140743; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:56741; Evidence=. ;.

Enzyme Numbers (IUBMB) for A3GALT2 Gene

Phenotypes From GWAS Catalog 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 IBA 21873635
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

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for A3GALT2

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}.

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 A3GALT2 gene
Compartment Confidence
golgi apparatus 4
lysosome 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for A3GALT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IEA,IBA 21873635
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with A3GALT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0030259 lipid glycosylation IBA,IEA 21873635
GO:0071287 cellular response to manganese ion IEA --
genes like me logo Genes that share ontologies with A3GALT2: view

No data available for SIGNOR curated interactions for A3GALT2 Gene

Drugs & Compounds for A3GALT2 Gene

No Compound Related Data Available

Transcripts for A3GALT2 Gene

mRNA/cDNA for A3GALT2 Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for A3GALT2

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

No ASD Table

Relevant External Links for A3GALT2 Gene

GeneLoc Exon Structure for
A3GALT2

Expression for A3GALT2 Gene

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

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 89.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia A3GALT2 31 30
  • 86.96 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia A3galt2 30
  • 77.68 (n)
mouse
(Mus musculus)
Mammalia A3galt2 17 31 30
  • 77.38 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 41 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 40 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia ABO 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for A3GALT2: view image

Paralogs for A3GALT2 Gene

Paralogs for A3GALT2 Gene

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

  • U3KPV4_HUMAN
  • U3KQ18_HUMAN

Pseudogenes.org Pseudogenes for A3GALT2 Gene

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

Variants for A3GALT2 Gene

Additional dbSNP identifiers (rs#s) for A3GALT2 Gene

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)

Additional Variant Information for A3GALT2 Gene

Human Gene Mutation Database (HGMD)
A3GALT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
A3GALT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for A3GALT2 Gene

Disorders for A3GALT2 Gene

Additional Disease Information for 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 MS (PLoS biology 2008) 2 3 4 54
  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 (Journal of carbohydrate chemistry 2013) 3 4 54
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  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 KR (Biochemistry 2008) 23 54
  5. Sensitive detection of isoglobo and globo series tetraglycosylceramides in human thymus by ion trap mass spectrometry. (PMID: 18056651) Li Y … Zhou D (Glycobiology 2008) 23 54

Products for A3GALT2 Gene

Sources for A3GALT2 Gene