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

    Gene ID: 10678, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See B3GNT2 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
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    EBI GWAS Catalog
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    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001319075.2NP_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:156345
      Galactosyl_T; Galactosyltransferase
    2. NM_006577.6NP_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:156345
      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.