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

    Gene ID: 8704, updated on 2-Nov-2024

    Summary

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    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
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    Genomic context

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    See B4GALT2 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43979210..43991171)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43850290..43862258)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    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

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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)

    Genotypes

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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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

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    NP_003771.1
    NP_085076.2
    XP_016858205.1
    XP_016858206.1
    XP_054195380.1
    XP_054195381.1

    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)

    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_2024_08

    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.

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