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Aliases for B4GALNT2 Gene

Aliases for B4GALNT2 Gene

  • Beta-1,4-N-Acetyl-Galactosaminyl Transferase 2 2 3
  • GALGT2 3 4 6
  • UDP-GalNAc:Neu5Acalpha2-3Galbeta-R Beta1,4-N-Acetylgalactosaminyltransferase 2 3
  • UDP-GalNAc:Neu5Aca2-3Galb-R B1,4-N-Acetylgalactosaminyltransferase 3 4
  • Sd(A) Beta-1,4-GalNAc Transferase 3 4
  • Beta 1,4 N-Acetylgalactosaminyltransferase/Betal,4 GalNAcT/Sda-GalNAcT 3
  • Beta-1,4 N-Acetylgalactosaminyltransferase 2 3
  • Beta-4-N-Acetylgalactosaminyltransferase 3
  • Sda Beta-1,4-GalNAc Transferase 3
  • EC 2.4.1.92 64
  • EC 2.4.1.- 4
  • B4GALGT2 6
  • B4GALT 3
  • SD 6

External Ids for B4GALNT2 Gene

Previous Symbols for B4GALNT2 Gene

  • GALGT2

Summaries for B4GALNT2 Gene

Entrez Gene Summary for B4GALNT2 Gene

  • B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]

GeneCards Summary for B4GALNT2 Gene

B4GALNT2 (Beta-1,4-N-Acetyl-Galactosaminyl Transferase 2) is a Protein Coding gene. Diseases associated with B4GALNT2 include tracheitis and dermatophytosis. GO annotations related to this gene include acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT1.

UniProtKB/Swiss-Prot for B4GALNT2 Gene

  • Involved in the synthesis of the Sd(a) antigen (Sia-alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain.

Gene Wiki entry for B4GALNT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALNT2 Gene

Genomics for B4GALNT2 Gene

Genomic Location for B4GALNT2 Gene

Start:
49,132,460 bp from pter
End:
49,169,989 bp from pter
Size:
37,530 bases
Orientation:
Plus strand

Genomic View for B4GALNT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B4GALNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALNT2 Gene

Regulatory Elements for B4GALNT2 Gene

Proteins for B4GALNT2 Gene

  • Protein details for B4GALNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHY0-B4GN2_HUMAN
    Recommended name:
    Beta-1,4 N-acetylgalactosaminyltransferase 2
    Protein Accession:
    Q8NHY0
    Secondary Accessions:
    • B4DZE4
    • Q14CP1
    • Q86Y40

    Protein attributes for B4GALNT2 Gene

    Size:
    566 amino acids
    Molecular mass:
    63258 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for B4GALNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B4GALNT2 Gene

Proteomics data for B4GALNT2 Gene at MOPED

Selected DME Specific Peptides for B4GALNT2 Gene

Post-translational modifications for B4GALNT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for B4GALNT2 Gene

Domains for B4GALNT2 Gene

Gene Families for B4GALNT2 Gene

HGNC:
  • GLT2 :Glycosyltransferase family 2 domain containing
  • B4GT :Beta 4-glycosyltransferases

Protein Domains for B4GALNT2 Gene

UniProtKB/Swiss-Prot:

B4GN2_HUMAN
Family:
  • Belongs to the glycosyltransferase 2 family.:
    • Q8NHY0
genes like me logo Genes that share domains with B4GALNT2: view

Function for B4GALNT2 Gene

Molecular function for B4GALNT2 Gene

UniProtKB/Swiss-Prot Function: Involved in the synthesis of the Sd(a) antigen (Sia-alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain.

Enzyme Numbers (IUBMB) for B4GALNT2 Gene

Gene Ontology (GO) - Molecular Function for B4GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008376 acetylgalactosaminyltransferase activity IDA 12678917
GO:0016758 transferase activity, transferring hexosyl groups --
genes like me logo Genes that share ontologies with B4GALNT2: view

Phenotypes for B4GALNT2 Gene

genes like me logo Genes that share phenotypes with B4GALNT2: view

Animal Models for B4GALNT2 Gene

MGI Knock Outs for B4GALNT2:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for B4GALNT2 Gene

Localization for B4GALNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALNT2 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B4GALNT2 Gene COMPARTMENTS Subcellular localization image for B4GALNT2 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for B4GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane NAS 12678917
GO:0030173 integral component of Golgi membrane IEA --
genes like me logo Genes that share ontologies with B4GALNT2: view

Pathways for B4GALNT2 Gene

SuperPathways for B4GALNT2 Gene

No Data Available

UniProtKB/Swiss-Prot Q8NHY0-B4GN2_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for B4GALNT2 Gene

Gene Ontology (GO) - Biological Process for B4GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006047 UDP-N-acetylglucosamine metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0019276 UDP-N-acetylgalactosamine metabolic process IDA 12678917
GO:0022408 negative regulation of cell-cell adhesion IDA 16024623
GO:0030259 lipid glycosylation IEA --
genes like me logo Genes that share ontologies with B4GALNT2: view

No data available for Pathways by source for B4GALNT2 Gene

Compounds for B4GALNT2 Gene

(1) HMDB Compounds for B4GALNT2 Gene

Compound Synonyms Cas Number PubMed IDs
N-Acetylgalactosamine
  • 2-Acetamido-2-desoxy-b-D-talofuranose
1811-31-0
genes like me logo Genes that share compounds with B4GALNT2: view

Transcripts for B4GALNT2 Gene

mRNA/cDNA for B4GALNT2 Gene

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

Unigene Clusters for B4GALNT2 Gene

Beta-1,4-N-acetyl-galactosaminyl transferase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT2 Gene

No ASD Table

Relevant External Links for B4GALNT2 Gene

GeneLoc Exon Structure for
B4GALNT2
ECgene alternative splicing isoforms for
B4GALNT2

Expression for B4GALNT2 Gene

mRNA expression in normal human tissues for B4GALNT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B4GALNT2 Gene

This gene is overexpressed in Colon - Transverse (33.0) and Stomach (6.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for B4GALNT2 Gene

SOURCE GeneReport for Unigene cluster for B4GALNT2 Gene Hs.374679

mRNA Expression by UniProt/SwissProt for B4GALNT2 Gene

Q8NHY0-B4GN2_HUMAN
Tissue specificity: Widely expressed. Highly expressed in colon and to a lesser extent in kidney, stomach, ileum and rectum.
genes like me logo Genes that share expressions with B4GALNT2: view

Orthologs for B4GALNT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for B4GALNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B4GALNT2 36
  • 99.17 (n)
  • 99.17 (a)
B4GALNT2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia B4GALNT2 36
  • 81.31 (n)
  • 76.84 (a)
B4GALNT2 37
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALNT2 36
  • 86.05 (n)
  • 83.5 (a)
B4GALNT2 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B4galnt2 36
  • 78.73 (n)
  • 74.4 (a)
B4galnt2 16
B4galnt2 37
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B4GALNT2 37
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 71 (a)
OneToMany
-- 37
  • 41 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC688155 36
  • 77.81 (n)
  • 73.64 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 53 (a)
OneToMany
-- 37
  • 50 (a)
OneToMany
-- 37
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493488 36
  • 56.35 (n)
  • 52.46 (a)
zebrafish
(Danio rerio)
Actinopterygii b4galnt2.1 37
  • 41 (a)
OneToMany
b4galnt2.2 37
  • 38 (a)
OneToMany
CABZ01039859.1 37
  • 38 (a)
OneToMany
Species with no ortholog for B4GALNT2:
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for B4GALNT2 Gene

ENSEMBL:
Gene Tree for B4GALNT2 (if available)
TreeFam:
Gene Tree for B4GALNT2 (if available)

Paralogs for B4GALNT2 Gene

Paralogs for B4GALNT2 Gene

Selected SIMAP similar genes for B4GALNT2 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for B4GALNT2 Gene

genes like me logo Genes that share paralogs with B4GALNT2: view

Variants for B4GALNT2 Gene

Sequence variations from dbSNP and Humsavar for B4GALNT2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1403528 -- 49,168,444(-) TTGGC(A/G)TGAGT intron-variant
rs1523137 -- 49,160,440(-) CCTGG(C/T)TGGGA intron-variant
rs1533920 -- 49,170,433(-) GGAGT(A/G)AGTCT downstream-variant-500B
rs1533921 -- 49,170,328(-) ACAAG(G/T)TCACT downstream-variant-500B
rs1533922 -- 49,170,318(-) TCCAC(A/G)GAGTC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for B4GALNT2 Gene

Variant ID Type Subtype PubMed ID
esv2478586 CNV Deletion 19546169
esv1972485 CNV Deletion 18987734
esv2911 CNV Deletion 18987735
esv2716020 CNV Deletion 23290073
esv2445547 CNV Deletion 19546169
esv1011150 CNV Deletion 20482838
esv9571 CNV Loss 19470904
esv1351644 CNV Deletion 17803354

Relevant External Links for B4GALNT2 Gene

HapMap Linkage Disequilibrium report
B4GALNT2

Disorders for B4GALNT2 Gene

(2) MalaCards Diseases for B4GALNT2 Gene

Search for B4GALNT2 Gene in MalaCards »

(2) University of Copenhagen DISEASES for B4GALNT2 Gene

Relevant External Links for B4GALNT2

Genetic Association Database (GAD)
B4GALNT2
Human Genome Epidemiology (HuGE) Navigator
B4GALNT2
genes like me logo Genes that share disorders with B4GALNT2: view

No data available for UniProtKB/Swiss-Prot for B4GALNT2 Gene

Publications for B4GALNT2 Gene

  1. Molecular cloning, gene organization and expression of the human UDP- GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N- acetylgalactosaminyltransferase responsible for the biosynthesis of the blood group Sda/Cad antigen: evidence for an unusual extended cytoplasmic domain. (PMID: 12678917) Montiel M.D. … Harduin-Lepers A. (Biochem. J. 2003) 2 3 4 23
  2. DNA hypermethylation contributes to incomplete synthesis of carbohydrate determinants in gastrointestinal cancer. (PMID: 18485915) Kawamura Y.I. … Dohi T. (Gastroenterology 2008) 3 23
  3. Detection of N-acetylgalactosaminyltransferase mRNA which determines expression of Sda blood group carbohydrate structure in human gastrointestinal mucosa and cancer. (PMID: 8782649) Dohi T. … Oshima M. (Int. J. Cancer 1996) 2 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  5. Molecular cloning of the human beta1,4 N- acetylgalactosaminyltransferase responsible for the biosynthesis of the Sd(a) histo-blood group antigen: the sequence predicts a very long cytoplasmic domain. (PMID: 14688233) Lo Presti L. … Dall'Olio F. (J. Biochem. 2003) 3 4

Products for B4GALNT2 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate B4GALNT2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for B4GALNT2
    • Block miRNA regulation of B4GALNT2 using miScript Target Protectors

    Sources for B4GALNT2 Gene

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