B3GALT2 beta-1,3-galactosyltransferase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B3GALT2provided by HGNC
Official Full Name: beta-1,3-galactosyltransferase 2provided by HGNC
Primary source: HGNC:HGNC:917
See related: Ensembl:ENSG00000162630 MIM:603018; AllianceGenome:HGNC:917
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: GLCT2; BETA3GALT2; beta3Gal-T2
Summary: This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
Expression: Biased expression in gall bladder (RPKM 11.6), brain (RPKM 11.4) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q31.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (193178730..193186613, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (192525974..192533857, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (193147860..193155743, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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)

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

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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

G64641 (e-PCR)
- UniSTS:163872

SHGC-76070 (e-PCR)
- UniSTS:16436

B3GALT2_4411 (e-PCR)
- UniSTS:463556

B3galt2 (e-PCR), detects polymorphism
- UniSTS:546550

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	TAS Traceable Author Statement more info
enables glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in galactosylceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in oligosaccharide biosynthetic process	TAS Traceable Author Statement more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein glycosylation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: beta-1,3-galactosyltransferase 2

Names: UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2; UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2; beta-1,3-GalTase 2; beta-3-galt2

NP_003774.1

EC 2.4.1.86

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.