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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
  • 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
  • N-Acetyllactosaminide Beta-1,3-N-Acetylglucosaminyltransferase 2 3
  • 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-1,3-Gn-T1 4
  • Beta-1,3-Gn-T2 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, 1. Among its related pathways are Metabolism and Metabolism of proteins. 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 B3GNT9.

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

Enhancers for B3GNT2 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
GH02F062302 1.2 FANTOM5 Ensembl ENCODE 29.6 +110.3 110288 8.4 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ZFP64 ARID4B FEZF1 DMAP1 B3GNT2 GC02M062151 LOC105374761
GH02F062291 1.3 Ensembl ENCODE 25.9 +97.3 97288 3.2 HDGF PKNOX1 ARID4B ZNF48 YY1 ZNF263 JUNB SSRP1 GLIS1 STAT3 B3GNT2 LOC105374761 GC02M062151
GH02F062296 0.2 ENCODE 25.7 +100.7 100658 2.1 HDGF ATF1 PKNOX1 ARNT ZNF121 GATA2 GTF2B NCOA1 REST MBD2 B3GNT2 ENSG00000236498 TMEM17 LOC105374761 GC02M062151
GH02F062340 0.9 Ensembl ENCODE 23.9 +145.2 145174 1.1 PKNOX1 ARID4B RAD21 THRB ZSCAN9 YY1 RARA GATA4 EGR1 FOS B3GNT2 GC02P062346 GC02M062151
GH02F062313 0.7 Ensembl ENCODE 20.4 +118.1 118071 1.9 HDGF ARID4B DMAP1 YY1 NFYC MXD4 JUNB MIER2 REST TBX21 B3GNT2 GC02M062151 LOC105374761
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around B3GNT2 on UCSC Golden Path with GeneCards custom track

Promoters for B3GNT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001045105 787 3401 HDGF ATF1 MLX ARID4B SIN3A DMAP1 ZNF2 GLIS2 KLF7 ZNF263

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

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:

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

Gene Ontology (GO) - Molecular Function for B3GNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008378 galactosyltransferase activity IEA --
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity TAS --
GO:0008532 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B3GNT2: view
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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

Gene Ontology (GO) - Cellular Components for B3GNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with B3GNT2: view

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:0006486 protein glycosylation IEA --
GO:0007411 axon guidance IEA --
GO:0007608 sensory perception of smell IEA --
GO:0016266 O-glycan processing TAS --
GO:0018146 keratan sulfate biosynthetic process TAS --
genes like me logo Genes that share ontologies with B3GNT2: view

No data available for SIGNOR curated interactions for B3GNT2 Gene

Transcripts for B3GNT2 Gene

Unigene Clusters for B3GNT2 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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, MaxQB, and MOPED for B3GNT2 Gene



Protein tissue co-expression partners for B3GNT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of B3GNT2 Gene:

B3GNT2

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

Primer 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 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia B3GNT2 34 35
  • 89.25 (n)
cow
(Bos Taurus)
Mammalia B3GNT2 34 35
  • 87.91 (n)
-- 35
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia B3gnt2 34 16 35
  • 84.97 (n)
rat
(Rattus norvegicus)
Mammalia B3gnt2 34
  • 84.47 (n)
oppossum
(Monodelphis domestica)
Mammalia B3GNT2 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GNT2 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves B3GNT2 34 35
  • 74.14 (n)
lizard
(Anolis carolinensis)
Reptilia B3GNT2 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gnt2 34
  • 67.34 (n)
Str.7170 34
zebrafish
(Danio rerio)
Actinopterygii b3gnt2b 34 35
  • 60.82 (n)
b3gnt2a 35
  • 53 (a)
OneToMany
B3GNT2 (2 of 4) 35
  • 40 (a)
OneToMany
B3GNT2 (3 of 4) 35
  • 35 (a)
OneToMany
wufa55h04 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.163 35
  • 33 (a)
OneToMany
Species where no ortholog for B3GNT2 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)
  • 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
rs1008724 -- 62,202,976(+) TCTGA(C/G)AGGAG intron-variant
rs1008725 -- 62,203,073(+) CAGCA(A/G)TCAAC intron-variant
rs10182572 -- 62,219,779(+) TATCA(C/T)GGAAG intron-variant
rs10189468 -- 62,221,720(+) AATGC(A/G)TCACA intron-variant
rs10496094 -- 62,214,998(-) AGAAC(C/T)TTTGA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv1000005 CNV gain 25217958
nsv1143939 CNV deletion 24896259
nsv582123 CNV gain 21841781
nsv7313 OTHER inversion 18451855

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GNT2

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

Disorders for B3GNT2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for B3GNT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type a, 1
  • walker-warburg syndrome
- 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. 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 4 22 64
  2. 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 22 64
  3. B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan. (PMID: 25279697) Praissman J.L. … Wells L. (Elife 2014) 3 4 64
  4. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. (PMID: 22446963) Okada Y. … Yamamoto K. (Nat. Genet. 2012) 3 46 64
  5. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. (PMID: 20062062) . … Brown M.A. (Nat. Genet. 2010) 3 46 64

Products for B3GNT2 Gene

Sources for B3GNT2 Gene

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