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

    Gene ID: 10678, updated on 27-Nov-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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    See B3GNT2 in Genome Data Viewer
    Location:
    2p15
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (62196115..62224731)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (62202342..62230957)
    RS_2024_09 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. Differential expression patterns of N-acetylglucosaminyl transferases and polylactosamines in uterine lesions. Clark AT, et al. Eur J Histochem, 2014 May 26. PMID 24998922, Free PMC Article
    3. 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
    4. 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
    5. 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

    See all (41) 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)

    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-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    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 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_2024_08

    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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