B4GALT2 beta-1,4-galactosyltransferase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B4GALT2provided by HGNC
Official Full Name: beta-1,4-galactosyltransferase 2provided by HGNC
Primary source: HGNC:HGNC:925
See related: Ensembl:ENSG00000117411 MIM:604013; AllianceGenome:HGNC:925
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: B4Gal-T2; B4Gal-T3; beta4Gal-T2
Summary: This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
Expression: Ubiquitous expression in brain (RPKM 14.6), fat (RPKM 11.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (43979210..43991171)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (43850290..43862258)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (44444882..44456843)

Chromosome 1 - NC_000001.11 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?

In individuals under dual antiplatelet therapy, B4GALT2 c.909C>T is an independent genetic predictor of on-treatment platelet reactivity.
Title: Beta-1,4-galactosyltransferase 2 c.909C>T gene variant is predictive of on-clopidogrel platelet reactivity.
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.
Data show that Beta4-Gal-transferase (beta4GalT) extends core 2 and forms the backbone structure for biologically important epitopes.
Title: Site directed processing: role of amino acid sequences and glycosylation of acceptor glycopeptides in the assembly of extended mucin type O-glycan core 2.
results suggested that beta1,4GalT II might serve as a target gene of p53 transcription factor during adriamycin-induced HeLa cell apoptosis, which elucidated a new mechanism of p53-mediated cell apoptosis
Title: Identification of beta1,4GalT II as a target gene of p53-mediated HeLa cell apoptosis.
Significance of core 2 GlcNAc-T in the pathogenesis of capillary occlusion in diabetic retinopathy.
Title: Tumor necrosis factor-alpha in diabetic plasma increases the activity of core 2 GlcNAc-T and adherence of human leukocytes to retinal endothelial cells: significance of core 2 GlcNAc-T in diabetic retinopathy.
beta4GalT-II increases HeLa cell apoptosis induced by cisplatin depending on its Golgi localization, which indicates that beta4GalT-II might contribute to the therapeutic efficiency of cisplatin for cervix cancer.
Title: beta4GalT-II increases cisplatin-induced apoptosis in HeLa cells depending on its Golgi localization.
Thus, these results suggest that among human beta4GalTs, beta4GalT-II is a major regulator of the synthesis of glycans involved in neuronal development.
Title: beta4GalT-II is a key regulator of glycosylation of the proteins involved in neuronal development.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus	PubMed

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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

SHGC-74711 (e-PCR)
- UniSTS:75286

D1S280E (e-PCR)
- UniSTS:147531

HSCZOA042 (e-PCR)
- UniSTS:30046

SHGC-145624 (e-PCR)
- UniSTS:174688

D1S280E (e-PCR)
- UniSTS:13460

D1S280E (e-PCR)
- UniSTS:147435

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyllactosamine synthase activity	IEA Inferred from Electronic Annotation more info
enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables lactose synthase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cerebellar Purkinje cell layer development	IEA Inferred from Electronic Annotation more info
involved_in glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: beta-1,4-galactosyltransferase 2

Names: N-acetyllactosamine synthase; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2; UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 2; UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 2; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2; beta-1,4-GalTase 2; beta-4-GalT2; beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 2; beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase; lactose synthase A protein; nal synthase

NP_001005417.1

EC 2.4.1.22

EC 2.4.1.38

EC 2.4.1.90

NP_003771.1

EC 2.4.1.22

EC 2.4.1.38

EC 2.4.1.90

NP_085076.2

EC 2.4.1.22

EC 2.4.1.38

EC 2.4.1.90

XP_016858205.1

EC 2.4.1.22

EC 2.4.1.38

EC 2.4.1.90

XP_016858206.1

EC 2.4.1.22

EC 2.4.1.38

EC 2.4.1.90

XP_054195380.1

EC 2.4.1.22

EC 2.4.1.38

EC 2.4.1.90

XP_054195381.1

EC 2.4.1.22

EC 2.4.1.38

EC 2.4.1.90

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_001005417.2 → NP_001005417.1 beta-1,4-galactosyltransferase 2 isoform b

See identical proteins and their annotated locations for NP_001005417.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode isoform b.

Source sequence(s)

AI702508, AK095873, BC096821, CD675528

Consensus CDS

CCDS506.1

UniProtKB/Swiss-Prot

B3KTP0, B4DE14, D3DPY6, D3DPY7, O60511, O60909, Q4V9L9, Q5T4X5, Q5T4Y5, Q9BUP6, Q9NSY7

UniProtKB/TrEMBL

A0A7I2V436

Related

ENSP00000349293.6, ENST00000356836.10

Conserved Domains (1) summary

cd00899
Location:145 → 361

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
NM_003780.5 → NP_003771.1 beta-1,4-galactosyltransferase 2 isoform b

See identical proteins and their annotated locations for NP_003771.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode isoform b.

Source sequence(s)

AK095873, AL535811, BC096821

Consensus CDS

CCDS506.1

UniProtKB/Swiss-Prot

B3KTP0, B4DE14, D3DPY6, D3DPY7, O60511, O60909, Q4V9L9, Q5T4X5, Q5T4Y5, Q9BUP6, Q9NSY7

UniProtKB/TrEMBL

A0A7I2V436

Related

ENSP00000361399.1, ENST00000372324.6

Conserved Domains (1) summary

cd00899
Location:145 → 361

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
NM_030587.3 → NP_085076.2 beta-1,4-galactosyltransferase 2 isoform a

See identical proteins and their annotated locations for NP_085076.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AK293418, BC096821, DC386748

Consensus CDS

CCDS55596.1

UniProtKB/TrEMBL

A0A7I2V436

Related

ENSP00000310696.7, ENST00000309519.8

Conserved Domains (1) summary

cd00899
Location:174 → 390

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

43979210..43991171

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017002717.2 → XP_016858206.1 beta-1,4-galactosyltransferase 2 isoform X1

UniProtKB/Swiss-Prot

B3KTP0, B4DE14, D3DPY6, D3DPY7, O60511, O60909, Q4V9L9, Q5T4X5, Q5T4Y5, Q9BUP6, Q9NSY7

UniProtKB/TrEMBL

A0A7I2V436

Conserved Domains (1) summary

cd00899
Location:145 → 361

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
XM_017002716.1 → XP_016858205.1 beta-1,4-galactosyltransferase 2 isoform X1

UniProtKB/Swiss-Prot

B3KTP0, B4DE14, D3DPY6, D3DPY7, O60511, O60909, Q4V9L9, Q5T4X5, Q5T4Y5, Q9BUP6, Q9NSY7

UniProtKB/TrEMBL

A0A7I2V436

Related

ENSP00000407468.3, ENST00000434555.7

Conserved Domains (1) summary

cd00899
Location:145 → 361

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids