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

Gene ID: 10678, updated on 3-Nov-2019

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
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

Genomic context

See B3GNT2 in Genome Data Viewer
Location:
2p15
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (62196115..62224731)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (62423262..62451866)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 26 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class P pseudogene 1 Neighboring gene microRNA 5192 Neighboring gene uncharacterized LOC105374761 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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
acetylgalactosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
galactosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
axon guidance IEA
Inferred from Electronic Annotation
more info
 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
poly-N-acetyllactosamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
poly-N-acetyllactosamine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sensory perception of smell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
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)

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_001319075.1NP_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)
    AC093401, BC030579, BC047933
    Consensus CDS
    CCDS1870.1
    UniProtKB/Swiss-Prot
    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
    Q9NY97
    Related
    ENSP00000305595.4, ENST00000301998.5
    Conserved Domains (1) summary
    cl21608
    Location:156345
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    62196115..62224731
    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.
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