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

Gene ID: 8704, updated on 27-Nov-2024

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
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Genomic context

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

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

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

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_001005417.2NP_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
    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: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
    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: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/TrEMBL
    A0A7I2V436
    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: 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_017002717.2XP_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: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
    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:145361
    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_054339405.1XP_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_054339406.1XP_054195381.1  beta-1,4-galactosyltransferase 2 isoform X1

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