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

Gene ID: 8704, updated on 8-May-2016
Official Symbol
B4GALT2provided by HGNC
Official Full Name
beta-1,4-galactosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:925
See related
Ensembl:ENSG00000117411 HPRD:04928; MIM:604013; Vega:OTTHUMG00000008296
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]
Orthologs
Location:
1p34-p33
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (43979202..43991171)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44444874..44456843)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V0 subunit b Neighboring gene DPH2 homolog Neighboring gene coiled-coil domain containing 24 Neighboring gene solute carrier family 6 member 9 Neighboring gene Kruppel-like factor 17 Neighboring gene keratin 8 pseudogene 47

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyllactosamine synthase activity IEA
Inferred from Electronic Annotation
more info
 
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity TAS
Traceable Author Statement
more info
 
galactosyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
lactose synthase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
beta-1,4-galactosyltransferase 2
Names
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-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
NP_001005417.1
NP_003771.1
NP_085076.2

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, OTTHUMP00000010008, ENST00000356836, OTTHUMT00000022840
    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_003780.4NP_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)
    AI702508, AK095873, AL535811, BC096821
    Consensus CDS
    CCDS506.1
    UniProtKB/Swiss-Prot
    O60909
    Related
    ENSP00000361399, ENST00000372324
    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_030587.2NP_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)
    AI702508, AK293418, BC096821, DC386748
    Consensus CDS
    CCDS55596.1
    UniProtKB/Swiss-Prot
    O60909
    Related
    ENSP00000310696, ENST00000309519
    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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    43979202..43991171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    44561188..44573009
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)