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B3GAT2 beta-1,3-glucuronyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 135152, updated on 25-Nov-2021

Summary

Official Symbol
B3GAT2provided by HGNC
Official Full Name
beta-1,3-glucuronyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:922
See related
Ensembl:ENSG00000112309 MIM:607497
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
GLCATS
Summary
The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 8.3), duodenum (RPKM 3.6) and 25 other tissues See more
Orthologs
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Genomic context

See B3GAT2 in Genome Data Viewer
Location:
6q13
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (70856679..70957060, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (71566382..71666763, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 192 pseudogene Neighboring gene small ArfGAP 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1 pseudogene 1 Neighboring gene uncharacterized LOC105377850 Neighboring gene beclin 1 pseudogene 2 Neighboring gene LYPLA1 pseudogene 3

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1963, MGC138535

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in carbohydrate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in carbohydrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chondroitin sulfate proteoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2
Names
UDP-glucuronosyltransferase S
UDP-glucuronyltransferase S
glcAT-D
glucuronosyltransferase S
uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase
NP_542780.1

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_080742.3NP_542780.1  galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2

    See identical proteins and their annotated locations for NP_542780.1

    Status: REVIEWED

    Source sequence(s)
    AB075843, AL121961, DA782678
    Consensus CDS
    CCDS4974.1
    UniProtKB/Swiss-Prot
    Q9NPZ5
    Related
    ENSP00000230053.6, ENST00000230053.11
    Conserved Domains (1) summary
    cd00218
    Location:81305
    GlcAT-I; Beta1,3-glucuronyltransferase I (GlcAT-I) is involved in the initial steps of proteoglycan synthesis

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    70856679..70957060 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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