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B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 10678, updated on 5-Mar-2024

Summary

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Official Symbol
B3GNT2provided by HGNC
Official Full Name
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:15629
See related
Ensembl:ENSG00000170340 MIM:605581; AllianceGenome:HGNC:15629
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
B3GNT; BGNT2; B3GNT1; BGnT-2; beta-1; 3-Gn-T1; 3-Gn-T2; B3GN-T2; B3GNT-2; BETA3GNT; beta3Gn-T1; beta3Gn-T2
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 26.9), lung (RPKM 19.0) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2p15
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (62196115..62224731)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (62202342..62230957)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (62423250..62451866)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol glycan anchor biosynthesis class P pseudogene 1 Neighboring gene uncharacterized LOC124906013 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:62421735-62422342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:62422949-62423555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15850 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:62429250-62429750 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:62429751-62430251 Neighboring gene microRNA 5192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:62442629-62443128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:62444779-62445278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11536 Neighboring gene uncharacterized LOC105374761 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, 7SL, cytoplasmic 51, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Construction and investigation of β3GNT2-associated regulatory network in esophageal carcinoma. Luo Z, et al. Cell Mol Biol Lett, 2022 Jan 24. PMID 35073841, Free PMC Article
  2. Genetic effects of B3GNT2 on ankylosing spondylitis susceptibility and clinical manifestations in Taiwanese. Wang CM, et al. J Formos Med Assoc, 2022 Jul. PMID 34645591
  3. Comparison of human poly-N-acetyl-lactosamine synthase structure with GT-A fold glycosyltransferases supports a modular assembly of catalytic subsites. Kadirvelraj R, et al. J Biol Chem, 2021 Jan-Jun. PMID 33229435, Free PMC Article
  4. Structures and mechanism of human glycosyltransferase β1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), an important player in immune homeostasis. Hao Y, et al. J Biol Chem, 2021 Jan-Jun. PMID 33158990, Free PMC Article
  5. B3GNT2, a polylactosamine synthase, regulates glycosylation of EGFR in H7721 human hepatocellular carcinoma cells. Qiu H, et al. Asian Pac J Cancer Prev, 2014. PMID 25605193

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic effects of B3GNT2 on ankylosing spondylitis susceptibility and clinical manifestations in Taiwanese.
    Title: Genetic effects of B3GNT2 on ankylosing spondylitis susceptibility and clinical manifestations in Taiwanese.
  2. Construction and investigation of beta3GNT2-associated regulatory network in esophageal carcinoma.
    Title: Construction and investigation of β3GNT2-associated regulatory network in esophageal carcinoma.
  3. Comparison of human poly-N-acetyl-lactosamine synthase structure with GT-A fold glycosyltransferases supports a modular assembly of catalytic subsites.
    Title: Comparison of human poly-N-acetyl-lactosamine synthase structure with GT-A fold glycosyltransferases supports a modular assembly of catalytic subsites.
  4. Structures and mechanism of human glycosyltransferase beta1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), an important player in immune homeostasis.
    Title: Structures and mechanism of human glycosyltransferase β1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), an important player in immune homeostasis.
  5. we confirmed the involvement of BGNT-1.1 in ciliated sensory neuron function and morphogenesis. BGNT-1.1 functions at the trans-Golgi network of sheath cells (glia) to influence dye-filling and cilium length, in a cell non-autonomous manner. Notably, BGNT-1.1 is the orthologue of human B3GNT1/B4GAT1, a glycosyltransferase associated with Walker-Warburg syndrome (WWS).
    Title: Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT).
  6. Study provides evidence that mutations in B3GNT2, B4GALT2, and ST6GALNAC2 underlie aberrant glycosylation, and contribute to the pathogenesis of molecular subsets of colon and other gastrointestinal malignancies.
    Title: Biochemical and functional characterization of glycosylation-associated mutational landscapes in colon cancer.
  7. High B3GNT2 expression is associated with hepatocellular carcinoma.
    Title: B3GNT2, a polylactosamine synthase, regulates glycosylation of EGFR in H7721 human hepatocellular carcinoma cells.
  8. data reveals beta3GnT2 and polyLacNAc may be involved in the progression of the pre-malignant lesions of human the uterine cervix.
    Title: Differential expression patterns of N-acetylglucosaminyl transferases and polylactosamines in uterine lesions.
  9. up-regulation of beta3Gn-T8 in differentiated cells increases poly-N-acetyllactosamine chains by activating intrinsic beta3Gn-T2.
    Title: Activation of beta1,3-N-acetylglucosaminyltransferase-2 (beta3Gn-T2) by beta3Gn-T8. Possible involvement of beta3Gn-T8 in increasing poly-N-acetyllactosamine chains in differentiated HL-60 cells.
  10. beta1, 3-N-acetylglucosaminyltransferase is similar to a new protein, beta3-GnTL1
    Title: Characterization of a cDNA encoding a protein with limited similarity to beta1, 3-N-acetylglucosaminyltransferase.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
EBI GWAS Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity TAS
Traceable Author Statement
more info
  
enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity TAS
Traceable Author Statement
more info
  
enables beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in O-glycan processing TAS
Traceable Author Statement
more info
  
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
  
involved_in keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in poly-N-acetyllactosamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in poly-N-acetyllactosamine biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sensory perception of smell IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2
Names
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
beta-1,3-N-acetylglucosaminyltransferase bGnT-1
beta-1,3-N-acetylglucosaminyltransferase bGnT-2
NP_001306004.1
NP_006568.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001319075.2 → NP_001306004.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode the same protein.
    Source sequence(s)
    AC018462, AC093401, BC030579, BC047933
    Consensus CDS
    CCDS1870.1
    UniProtKB/Swiss-Prot
    Q54AC1, Q9NQQ9, Q9NQR0, Q9NUT9, Q9NY97
    Related
    ENSP00000384692.1, ENST00000405767.1
    Conserved Domains (1) summary
    cl21608
    Location:156 → 345
    Galactosyl_T; Galactosyltransferase

  2. NM_006577.6 → NP_006568.2  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2

    See identical proteins and their annotated locations for NP_006568.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 3 both encode the same protein.
    Source sequence(s)
    AB049584, AC018462, BC030579, BC047933
    Consensus CDS
    CCDS1870.1
    UniProtKB/Swiss-Prot
    Q54AC1, Q9NQQ9, Q9NQR0, Q9NUT9, Q9NY97
    Related
    ENSP00000305595.4, ENST00000301998.5
    Conserved Domains (1) summary
    cl21608
    Location:156 → 345
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    62196115..62224731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    62202342..62230957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_018554.1: Suppressed sequence

    Description
    NM_018554.1: This RefSeq was removed because currently there is support for the protein but not for the transcript.

  2. NM_033252.1: Suppressed sequence

    Description
    NM_033252.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NY97.2 GenPept UniProtKB/Swiss-Prot:Q9NY97

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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