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Aliases for B3GALNT2 Gene

Aliases for B3GALNT2 Gene

  • Beta-1,3-N-Acetylgalactosaminyltransferase 2 2 3
  • UDP-GalNAc:BetaGlcNAc Beta-1,3-Galactosaminyltransferase, Polypeptide 2 2 3
  • Beta-1,3-GalNAc-T2 3 4
  • MDDGA11 3 6
  • UDP-GalNAc:Beta-1,3-N-Acetylgalactosaminyltransferase 2 3
  • Beta-1,3-N-Acetylgalactosaminyltransferase II 4
  • B3GalNAc-T2 3
  • EC 2.4.1.- 4
  • G3GALNT2 6
  • MGC39558 6
  • EC 2.4.1 63

External Ids for B3GALNT2 Gene

Previous GeneCards Identifiers for B3GALNT2 Gene

  • GC01M231940
  • GC01M233679
  • GC01M235613
  • GC01M206062

Summaries for B3GALNT2 Gene

Entrez Gene Summary for B3GALNT2 Gene

  • This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]

GeneCards Summary for B3GALNT2 Gene

B3GALNT2 (Beta-1,3-N-Acetylgalactosaminyltransferase 2) is a Protein Coding gene. Diseases associated with B3GALNT2 include muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 and muscle eye brain disease. GO annotations related to this gene include galactosyltransferase activity and acetylgalactosaminyltransferase activity. An important paralog of this gene is B3GALT6.

UniProtKB/Swiss-Prot for B3GALNT2 Gene

  • Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GALNT2 Gene

Genomics for B3GALNT2 Gene

Regulatory Elements for B3GALNT2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for B3GALNT2 Gene

Start:
235,440,986 bp from pter
End:
235,504,481 bp from pter
Size:
63,496 bases
Orientation:
Minus strand

Genomic View for B3GALNT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B3GALNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GALNT2 Gene

Proteins for B3GALNT2 Gene

  • Protein details for B3GALNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCR0-B3GL2_HUMAN
    Recommended name:
    UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
    Protein Accession:
    Q8NCR0
    Secondary Accessions:
    • Q59GR3
    • Q5TCI3
    • Q96AL7

    Protein attributes for B3GALNT2 Gene

    Size:
    500 amino acids
    Molecular mass:
    56704 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH16974.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for B3GALNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B3GALNT2 Gene

Proteomics data for B3GALNT2 Gene at MOPED

Selected DME Specific Peptides for B3GALNT2 Gene

Post-translational modifications for B3GALNT2 Gene

Other Protein References for B3GALNT2 Gene

Antibody Products

Domains for B3GALNT2 Gene

Gene Families for B3GALNT2 Gene

HGNC:
  • B3GT :Beta 3-glycosyltransferases

Protein Domains for B3GALNT2 Gene

Suggested Antigen Peptide Sequences for B3GALNT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NCR0

UniProtKB/Swiss-Prot:

B3GL2_HUMAN :
  • Q8NCR0
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GALNT2: view

Function for B3GALNT2 Gene

Molecular function for B3GALNT2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=5.4 uM for UDP-GalNAc {ECO:0000269 PubMed:14724282}; KM=11 mM for GlcNAc-beta-Bn {ECO:0000269 PubMed:14724282};
UniProtKB/Swiss-Prot CatalyticActivity: UDP-N-acetyl-alpha-D-galactosamine + N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein.
UniProtKB/Swiss-Prot Function: Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.

Enzyme Numbers (IUBMB) for B3GALNT2 Gene

Gene Ontology (GO) - Molecular Function for B3GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IDA 23929950
GO:0008376 acetylgalactosaminyltransferase activity IDA 23929950
GO:0008378 galactosyltransferase activity IEA --
genes like me logo Genes that share ontologies with B3GALNT2: view

Phenotypes for B3GALNT2 Gene

GenomeRNAi human phenotypes for B3GALNT2:
genes like me logo Genes that share phenotypes with B3GALNT2: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B3GALNT2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for B3GALNT2 Gene

Localization for B3GALNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GALNT2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B3GALNT2 Gene COMPARTMENTS Subcellular localization image for B3GALNT2 gene
Compartment Confidence
golgi apparatus 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for B3GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IDA 23453667
GO:0005794 Golgi apparatus --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GALNT2: view

Pathways for B3GALNT2 Gene

SuperPathways for B3GALNT2 Gene

No Data Available

UniProtKB/Swiss-Prot Q8NCR0-B3GL2_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for B3GALNT2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000355559%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000355559 for B3GALNT2 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for B3GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IMP 23453667
GO:0006493 protein O-linked glycosylation IDA 23929950
genes like me logo Genes that share ontologies with B3GALNT2: view

No data available for Pathways by source for B3GALNT2 Gene

Transcripts for B3GALNT2 Gene

Unigene Clusters for B3GALNT2 Gene

Beta-1,3-N-acetylgalactosaminyltransferase 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B3GALNT2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALNT2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1: - - - - - - -
SP2: - - - - -
SP3: -
SP4: - - -
SP5: - - -
SP6: -
SP7:

Relevant External Links for B3GALNT2 Gene

GeneLoc Exon Structure for
B3GALNT2
ECgene alternative splicing isoforms for
B3GALNT2

Expression for B3GALNT2 Gene

mRNA expression in normal human tissues for B3GALNT2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for B3GALNT2 Gene

SOURCE GeneReport for Unigene cluster for B3GALNT2 Gene Hs.498143

mRNA Expression by UniProt/SwissProt for B3GALNT2 Gene

Q8NCR0-B3GL2_HUMAN
Tissue specificity: Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary.
genes like me logo Genes that share expressions with B3GALNT2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for B3GALNT2 Gene

Orthologs for B3GALNT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GALNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GALNT2 35
  • 99.73 (n)
  • 99.6 (a)
B3GALNT2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia B3GALNT2 35
  • 89.6 (n)
  • 93 (a)
B3GALNT2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B3GALNT2 35
  • 89.04 (n)
  • 92.38 (a)
B3GALNT2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B3galnt2 35
  • 86.33 (n)
  • 88.4 (a)
B3galnt2 16
B3galnt2 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B3GALNT2 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GALNT2 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3galnt2 35
  • 85.8 (n)
  • 88 (a)
chicken
(Gallus gallus)
Aves B3GALNT2 35
  • 79.75 (n)
  • 85.31 (a)
B3GALNT2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B3GALNT2 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18445 35
tropical clawed frog
(Silurana tropicalis)
Amphibia b3galnt2 35
  • 70.7 (n)
  • 70.43 (a)
Str.18549 35
zebrafish
(Danio rerio)
Actinopterygii b3galnt2 35
  • 57.06 (n)
  • 53.78 (a)
b3galnt2 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta beta3GalTII 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sqv-2 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
CSA.9319 36
  • 27 (a)
OneToMany
Species with no ortholog for B3GALNT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 B3GALNT2 Gene

ENSEMBL:
Gene Tree for B3GALNT2 (if available)
TreeFam:
Gene Tree for B3GALNT2 (if available)

Paralogs for B3GALNT2 Gene

Paralogs for B3GALNT2 Gene

Pseudogenes.org Pseudogenes for B3GALNT2 Gene

genes like me logo Genes that share paralogs with B3GALNT2: view

Variants for B3GALNT2 Gene

Sequence variations from dbSNP and Humsavar for B3GALNT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs167092 -- 235,479,043(+) ATGGA(A/G)GTTCA intron-variant
rs182366 -- 235,504,679(+) CGAAG(C/G)GCGAG upstream-variant-2KB
rs184108 -- 235,482,844(+) aaaCC(A/G)AAACC intron-variant
rs210037 -- 235,486,186(+) ATTCA(A/G)TAAAA intron-variant
rs291341 -- 235,499,874(+) gacct(G/T)taata intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B3GALNT2 Gene

Variant ID Type Subtype PubMed ID
dgv30n21 CNV Gain 19592680
nsv873321 CNV Gain 21882294
nsv468406 CNV Gain 19166990
nsv873322 CNV Gain 21882294
dgv549n71 CNV Gain 21882294

Relevant External Links for B3GALNT2 Gene

HapMap Linkage Disequilibrium report
B3GALNT2
Human Gene Mutation Database (HGMD)
B3GALNT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALNT2 Gene

Disorders for B3GALNT2 Gene

(1) OMIM Diseases for B3GALNT2 Gene (610194)

UniProtKB/Swiss-Prot

B3GL2_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:23453667}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with B3GALNT2: view

Publications for B3GALNT2 Gene

  1. A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc. (PMID: 14724282) Hiruma T. … Narimatsu H. (J. Biol. Chem. 2004) 2 3 4
  2. 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
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  4. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of I+-dystroglycan. (PMID: 23453667) Stevens E. … Muntoni F. (Am. J. Hum. Genet. 2013) 3 4
  5. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. (PMID: 23929950) Yoshida-Moriguchi T. … Campbell K.P. (Science 2013) 3 4

Products for B3GALNT2 Gene

Sources for B3GALNT2 Gene

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