U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 8704, updated on 3-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904167 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44439785-44440618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44440619-44441451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44443584-44444175 Neighboring gene diphthamide biosynthesis 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44444176-44444766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44444767-44445358 Neighboring gene ATPase H+ transporting V0 subunit b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44447723-44448312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 802 Neighboring gene Sharpr-MPRA regulatory region 11322 Neighboring gene coiled-coil domain containing 24 Neighboring gene solute carrier family 6 member 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44471356-44471562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44476286-44476951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44494509-44495068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44495069-44495626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 804 Neighboring gene uncharacterized LOC107984948 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44496268-44496864 Neighboring gene uncharacterized LOC124904168 Neighboring gene VISTA enhancer hs1857

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Beta-1,4-galactosyltransferase 2 c.909C>T gene variant is predictive of on-clopidogrel platelet reactivity. Pallet N, et al. Pharmacogenomics, 2018 Aug 1. PMID 30020015
  2. beta4GalT-II increases cisplatin-induced apoptosis in HeLa cells depending on its Golgi localization. Jiang J, et al. Biochem Biophys Res Commun, 2007 Jun 22. PMID 17470362
  3. beta4GalT-II is a key regulator of glycosylation of the proteins involved in neuronal development. Sasaki N, et al. Biochem Biophys Res Commun, 2005 Jul 22. PMID 15939404
  4. Identification of beta1,4GalT II as a target gene of p53-mediated HeLa cell apoptosis. Zhou J, et al. J Biochem, 2008 Apr. PMID 18211920
  5. 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. Ben-Mahmud BM, et al. Diabetes, 2004 Nov. PMID 15504978

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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

Go to the top of the page Help
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
NP_003771.1
NP_085076.2
XP_016858205.1
XP_016858206.1
XP_054195380.1
XP_054195381.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_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

  2. 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

  3. 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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    43979210..43991171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    43850290..43862258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339405.1 → XP_054195380.1  beta-1,4-galactosyltransferase 2 isoform X1

    UniProtKB/Swiss-Prot
    B3KTP0, B4DE14, D3DPY6, D3DPY7, O60511, O60909, Q4V9L9, Q5T4X5, Q5T4Y5, Q9BUP6, Q9NSY7

  2. XM_054339406.1 → XP_054195381.1  beta-1,4-galactosyltransferase 2 isoform X1

    UniProtKB/Swiss-Prot
    B3KTP0, B4DE14, D3DPY6, D3DPY7, O60511, O60909, Q4V9L9, Q5T4X5, Q5T4Y5, Q9BUP6, Q9NSY7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60909.1 GenPept UniProtKB/Swiss-Prot:O60909

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous