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GXYLT2 glucoside xylosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 727936, updated on 7-Sep-2023

Summary

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Official Symbol
GXYLT2provided by HGNC
Official Full Name
glucoside xylosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:33383
See related
Ensembl:ENSG00000172986 MIM:613322; AllianceGenome:HGNC:33383
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
GLT8D4
Summary
The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]
Expression
Broad expression in ovary (RPKM 6.1), gall bladder (RPKM 5.3) and 22 other tissues See more
Orthologs
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Genomic context

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See GXYLT2 in Genome Data Viewer
Location:
3p13
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (72888046..72976915)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (72929921..73018837)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (72937197..73026066)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene PSMD12 pseudogene 1 Neighboring gene lysosomal protein transmembrane 4 beta pseudogene 2 Neighboring gene ferritin heavy chain 1 pseudogene 23 Neighboring gene Sharpr-MPRA regulatory region 10271 Neighboring gene uncharacterized LOC124909395 Neighboring gene protein phosphatase 4 regulatory subunit 2 Neighboring gene RNA, U7 small nuclear 19 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Glucoside xylosyltransferase 2 as a diagnostic and prognostic marker in gastric cancer via comprehensive analysis. Zhao Y, et al. Bioengineered, 2021 Dec. PMID 34506251, Free PMC Article
  2. GXYLT2 accelerates cell growth and migration by regulating the Notch pathway in human cancer cells. Cui Q, et al. Exp Cell Res, 2019 Mar 1. PMID 30716301
  3. In vitro assays of orphan glycosyltransferases and their application to identify Notch xylosyltransferases. Sethi MK, et al. Methods Mol Biol, 2013. PMID 23765671
  4. MicroRNA-204-5p Hampers the Malignant Progression of Clear Cell Renal Cell Carcinoma through GXYLT2 Downregulation. Wu Y, et al. Kidney Blood Press Res, 2022. PMID 36063796
  5. Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats. Sethi MK, et al. J Biol Chem, 2010 Jan 15. PMID 19940119, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MicroRNA-204-5p Hampers the Malignant Progression of Clear Cell Renal Cell Carcinoma through GXYLT2 Downregulation.
    Title: MicroRNA-204-5p Hampers the Malignant Progression of Clear Cell Renal Cell Carcinoma through GXYLT2 Downregulation.
  2. Glucoside xylosyltransferase 2 as a diagnostic and prognostic marker in gastric cancer via comprehensive analysis.
    Title: Glucoside xylosyltransferase 2 as a diagnostic and prognostic marker in gastric cancer via comprehensive analysis.
  3. our findings indicated that GXYLT2 plays an important role in cell activities via regulation of the Notch signaling
    Title: GXYLT2 accelerates cell growth and migration by regulating the Notch pathway in human cancer cells.
  4. We have identified two enzymes of the human glycosyltransferase 8 family, now named GXYLT1 and GXYLT2 (glucoside xylosyltransferase), as UDP-d-xylose:beta-d-glucoside alpha1,3-d-xylosyltransferases adding the first xylose.
    Title: Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats.
Submit: New GeneRIF Correction

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)

Genotypes

Pathways from PubChem

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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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables UDP-D-xylose:beta-D-glucoside alpha-1,3-D-xylosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables UDP-xylosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables UDP-xylosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in O-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in O-glycan processing IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
glucoside xylosyltransferase 2
Names
glycosyltransferase 8 domain containing 4
glycosyltransferase 8 domain-containing protein 4
NP_001073862.1

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_001080393.2 → NP_001073862.1  glucoside xylosyltransferase 2 precursor

    See identical proteins and their annotated locations for NP_001073862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer, protein-coding transcript.
    Source sequence(s)
    AC098481, AC114876
    Consensus CDS
    CCDS46870.1
    UniProtKB/Swiss-Prot
    A0PJZ3
    Related
    ENSP00000374268.4, ENST00000389617.9
    Conserved Domains (1) summary
    cd06430
    Location:110 → 413
    GT8_like_2; GT8_like_2 represents a subfamily of GT8 with unknown function

RNA

  1. NR_138564.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC098481, AC114876

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    72888046..72976915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    72929921..73018837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0PJZ3.2 GenPept UniProtKB/Swiss-Prot:A0PJZ3

Gene LinkOut

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