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

Gene ID: 135152, updated on 11-Sep-2019

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

Genomic context

See B3GAT2 in Genome Data Viewer
Location:
6q13
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (70856679..70957060, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (71566914..71667101, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 6 pseudogene 6 Neighboring gene transmembrane protein 192 pseudogene Neighboring gene small ArfGAP 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

NHGRI GWAS Catalog

Description
Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

General gene information

Markers

Homology

Clone Names

  • KIAA1963, MGC138535

Gene Ontology Provided by GOA

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

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, ENST00000230053.10
    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 Annotation Release 109 details...Open this link in a new tab

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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