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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Construction and investigation of beta3GNT2-associated regulatory network in esophageal carcinoma.
Title: Construction and investigation of β3GNT2-associated regulatory network in esophageal carcinoma.
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.
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.
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).
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.
High B3GNT2 expression is associated with hepatocellular carcinoma.
Title: B3GNT2, a polylactosamine synthase, regulates glycosylation of EGFR in H7721 human hepatocellular carcinoma cells.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A005U48 (e-PCR)
- UniSTS:8234

WI-17834 (e-PCR)
- UniSTS:6767

G32292 (e-PCR)
- UniSTS:116888

RH48653 (e-PCR)
- UniSTS:89757

RH45152 (e-PCR)
- UniSTS:66469

B3GNT1_4414 (e-PCR)
- UniSTS:462762

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

EC 2.4.1.149

NP_006568.2

EC 2.4.1.149

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)

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
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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

62196115..62224731

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.
NM_033252.1: Suppressed sequence

Description

NM_033252.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.