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

    Gene ID: 8704, updated on 8-Jul-2021

    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
    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

    See B4GALT2 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (43979210..43991171)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44444882..44456843)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene diphthamide biosynthesis 2 Neighboring gene ATPase H+ transporting V0 subunit b Neighboring gene Sharpr-MPRA regulatory region 11322 Neighboring gene coiled-coil domain containing 24 Neighboring gene solute carrier family 6 member 9 Neighboring gene uncharacterized LOC107984948

    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?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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 integral component of membrane IEA
    Inferred from Electronic Annotation
    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

    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

    NCBI Reference Sequences (RefSeq)

    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_001005417.2NP_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
      O60909
      Related
      ENSP00000349293.6, ENST00000356836.10
      Conserved Domains (1) summary
      cd00899
      Location:145361
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    2. NM_003780.5NP_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
      O60909
      Related
      ENSP00000361399.1, ENST00000372324.6
      Conserved Domains (1) summary
      cd00899
      Location:145361
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    3. NM_030587.3NP_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/Swiss-Prot
      O60909
      Related
      ENSP00000310696.7, ENST00000309519.8
      Conserved Domains (1) summary
      cd00899
      Location:174390
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      O60909
      Conserved Domains (1) summary
      cd00899
      Location:145361
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    2. XM_017002716.1XP_016858205.1  beta-1,4-galactosyltransferase 2 isoform X1

      UniProtKB/Swiss-Prot
      O60909
      Related
      ENSP00000407468.3, ENST00000434555.7
      Conserved Domains (1) summary
      cd00899
      Location:145361
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
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