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Aliases for B3GNT2 Gene

Aliases for B3GNT2 Gene

  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2 2 3 4 5
  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 1 2 3
  • Beta-1,3-Gn-T1 3 4
  • Beta-1,3-Gn-T2 3 4
  • Beta3Gn-T1 3 4
  • Beta3Gn-T2 3 4
  • B3GNT1 3 4
  • BGnT-2 3 4
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,3-Galactosyltransferase 7 4
  • UDP-Gal:Beta-GlcNAc Beta-1,3-Galactosyltransferase 7 4
  • Beta-1,3-N-Acetylglucosaminyltransferase BGnT-1 3
  • Beta-1,3-N-Acetylglucosaminyltransferase BGnT-2 3
  • Beta-1,3-N-Acetylglucosaminyltransferase 1 4
  • Beta-1,3-N-Acetylglucosaminyltransferase 2 4
  • Beta-1,3-Galactosyltransferase 7 4
  • Beta-1,3-GalTase 7 4
  • Beta-3-Gx-T7 4
  • EC 2.4.1.149 4
  • Beta3Gal-T7 4
  • Beta3GalT7 4
  • BETA3GNT 3
  • B3Gal-T7 4
  • 3-Gn-T1 3
  • 3-Gn-T2 3
  • B3GN-T2 3
  • B3GNT-2 3
  • B3GALT7 4
  • Beta-1 3
  • BGnT-1 4
  • B3GNT 3
  • BGNT2 3

External Ids for B3GNT2 Gene

Previous HGNC Symbols for B3GNT2 Gene

  • B3GNT1

Previous GeneCards Identifiers for B3GNT2 Gene

  • GC02P062276
  • GC02P062423

Summaries for B3GNT2 Gene

Entrez Gene Summary for B3GNT2 Gene

  • This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]

GeneCards Summary for B3GNT2 Gene

B3GNT2 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2) is a Protein Coding gene. Diseases associated with B3GNT2 include muscular dystrophy-dystroglycanopathy , type a, 13 and muscular dystrophy-dystroglycanopathy , type c, 12. Among its related pathways are Metabolism and O-linked glycosylation. GO annotations related to this gene include galactosyltransferase activity and N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is B3GNT5.

UniProtKB/Swiss-Prot for B3GNT2 Gene

  • Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase.

Gene Wiki entry for B3GNT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GNT2 Gene

Genomics for B3GNT2 Gene

Regulatory Elements for B3GNT2 Gene

Promoters for B3GNT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around B3GNT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for B3GNT2 Gene

Chromosome:
2
Start:
62,196,113 bp from pter
End:
62,224,731 bp from pter
Size:
28,619 bases
Orientation:
Plus strand

Genomic View for B3GNT2 Gene

Genes around B3GNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GNT2 Gene

Proteins for B3GNT2 Gene

  • Protein details for B3GNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY97-B3GN2_HUMAN
    Recommended name:
    N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2
    Protein Accession:
    Q9NY97
    Secondary Accessions:
    • Q54AC1
    • Q9NQQ9
    • Q9NQR0
    • Q9NUT9

    Protein attributes for B3GNT2 Gene

    Size:
    397 amino acids
    Molecular mass:
    46022 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with B3GNT8; this interaction greatly increases B3GNT2 catalytic activity, independently of B3GNT8 enzymatic activity.
    SequenceCaution:
    • Sequence=BAA92031.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for B3GNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B3GNT2 Gene

Proteomics data for B3GNT2 Gene at MOPED

Post-translational modifications for B3GNT2 Gene

  • Ubiquitination at Lys 50
  • Glycosylation at Asn 79, Asn 89, Asn 127, Asn 173, and Asn 219
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GNT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for B3GNT2 ("Beta-1,3-N-Acetylglucosaminyltransferase 2/B3GNT2")

No data available for DME Specific Peptides for B3GNT2 Gene

Domains & Families for B3GNT2 Gene

Gene Families for B3GNT2 Gene

Protein Domains for B3GNT2 Gene

Suggested Antigen Peptide Sequences for B3GNT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NY97

UniProtKB/Swiss-Prot:

B3GN2_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GNT2: view

Function for B3GNT2 Gene

Molecular function for B3GNT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R.
UniProtKB/Swiss-Prot Function:
Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase.

Enzyme Numbers (IUBMB) for B3GNT2 Gene

genes like me logo Genes that share phenotypes with B3GNT2: view

Animal Models for B3GNT2 Gene

MGI Knock Outs for B3GNT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for B3GNT2

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B3GNT2 Gene

Localization for B3GNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GNT2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B3GNT2 Gene COMPARTMENTS Subcellular localization image for B3GNT2 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for B3GNT2 Gene

Pathways & Interactions for B3GNT2 Gene

genes like me logo Genes that share pathways with B3GNT2: view

UniProtKB/Swiss-Prot Q9NY97-B3GN2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B3GNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006486 protein glycosylation IEA --
GO:0007608 sensory perception of smell IEA --
GO:0016266 O-glycan processing TAS --
GO:0042339 keratan sulfate metabolic process TAS --
genes like me logo Genes that share ontologies with B3GNT2: view

No data available for SIGNOR curated interactions for B3GNT2 Gene

Drugs & Compounds for B3GNT2 Gene

No Compound Related Data Available

Transcripts for B3GNT2 Gene

Unigene Clusters for B3GNT2 Gene

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for B3GNT2 Gene

No ASD Table

Relevant External Links for B3GNT2 Gene

GeneLoc Exon Structure for
B3GNT2
ECgene alternative splicing isoforms for
B3GNT2

Expression for B3GNT2 Gene

mRNA expression in normal human tissues for B3GNT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B3GNT2 Gene

This gene is overexpressed in Serum (47.4) and Plasma (15.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for B3GNT2 Gene



SOURCE GeneReport for Unigene cluster for B3GNT2 Gene Hs.173203

mRNA Expression by UniProt/SwissProt for B3GNT2 Gene

Q9NY97-B3GN2_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with B3GNT2: view

Protein tissue co-expression partners for B3GNT2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for B3GNT2 Gene

Orthologs for B3GNT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for B3GNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GNT2 36
  • 100 (a)
OneToOne
B3GNT2 35
  • 99.66 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 85 (a)
OneToMany
B3GNT2 36
  • 89 (a)
OneToMany
B3GNT2 35
  • 87.91 (n)
  • 88.66 (a)
dog
(Canis familiaris)
Mammalia B3GNT2 35
  • 89.25 (n)
  • 91.94 (a)
B3GNT2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B3gnt2 16
B3gnt2 36
  • 87 (a)
OneToOne
B3gnt2 35
  • 84.97 (n)
  • 87.41 (a)
oppossum
(Monodelphis domestica)
Mammalia B3GNT2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GNT2 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3gnt2 35
  • 84.47 (n)
  • 87.91 (a)
chicken
(Gallus gallus)
Aves B3GNT2 35
  • 74.14 (n)
  • 74.56 (a)
B3GNT2 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B3GNT2 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gnt2 35
  • 67.34 (n)
  • 68.26 (a)
Str.7170 35
zebrafish
(Danio rerio)
Actinopterygii B3GNT2 (2 of 4) 36
  • 40 (a)
OneToMany
B3GNT2 (3 of 4) 36
  • 35 (a)
OneToMany
b3gnt2a 36
  • 53 (a)
OneToMany
b3gnt2b 36
  • 57 (a)
OneToMany
b3gnt2b 35
  • 60.82 (n)
  • 57.99 (a)
wufa55h04 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.163 36
  • 33 (a)
OneToMany
Species with no ortholog for B3GNT2:
  • 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)
  • 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 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 B3GNT2 Gene

ENSEMBL:
Gene Tree for B3GNT2 (if available)
TreeFam:
Gene Tree for B3GNT2 (if available)

Paralogs for B3GNT2 Gene

(8) SIMAP similar genes for B3GNT2 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for B3GNT2 Gene

genes like me logo Genes that share paralogs with B3GNT2: view

Variants for B3GNT2 Gene

Sequence variations from dbSNP and Humsavar for B3GNT2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1136151 -- 62,223,608(+) TTTTA(C/T)GGATG utr-variant-3-prime
rs2084575 -- 62,213,478(-) CCCTC(C/T)TGCAC intron-variant
rs3076450 -- 62,195,623(-) CCCCG(-/CCG)GGGAG upstream-variant-2KB
rs6744167 -- 62,207,235(+) agtgc(C/T)gtggc intron-variant
rs7598268 -- 62,203,346(+) TTGGG(A/G)CATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B3GNT2 Gene

Variant ID Type Subtype PubMed ID
nsv7313 OTHER Inversion 18451855
nsv874231 CNV Gain 21882294

Variation tolerance for B3GNT2 Gene

Residual Variation Intolerance Score: 36.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B3GNT2 Gene

HapMap Linkage Disequilibrium report
B3GNT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GNT2 Gene

Disorders for B3GNT2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for B3GNT2 Gene - From: OMIM, GeneTests, and DISEASES

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type a, 13
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a13
muscular dystrophy-dystroglycanopathy , type c, 12
  • muscular dystrophy-dystroglycanopathy , type c 12
kidney fibrosarcoma
  • fibrosarcoma of the kidney
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
muscular dystrophy, congenital
  • congenital muscular dystrophy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for B3GNT2

Genetic Association Database (GAD)
B3GNT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B3GNT2
genes like me logo Genes that share disorders with B3GNT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for B3GNT2 Gene

Publications for B3GNT2 Gene

  1. A beta-1,3-N-acetylglucosaminyltransferase with poly-N- acetyllactosamine synthase activity is structurally related to beta- 1,3-galactosyltransferases. (PMID: 9892646) Zhou D. … Hennet T. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23 67
  2. Identification and characterization of three novel beta 1,3-N- acetylglucosaminyltransferases structurally related to the beta 1,3- galactosyltransferase family. (PMID: 11042166) Shiraishi N. … Sasaki K. (J. Biol. Chem. 2001) 2 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan. (PMID: 25279697) Praissman J.L. … Wells L. (Elife 2014) 3
  5. B3GNT2, a polylactosamine synthase, regulates glycosylation of EGFR in H7721 human hepatocellular carcinoma cells. (PMID: 25605193) Qiu H. … Chen H.L. (Asian Pac. J. Cancer Prev. 2014) 3

Products for B3GNT2 Gene

Sources for B3GNT2 Gene

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