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    GXYLT2 glucoside xylosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 727936, updated on 10-Dec-2024

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (72888046..72976915)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (72929921..73018837)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 14531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14532 Neighboring gene lysosomal protein transmembrane 4 beta pseudogene 2 Neighboring gene ferritin heavy chain 1 pseudogene 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20094 Neighboring gene Sharpr-MPRA regulatory region 10271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20095 Neighboring gene uncharacterized LOC124909395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20097 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. Pan-cancer analysis of the prognostic significance and oncogenic role of GXYLT2. Song YB, et al. Medicine (Baltimore), 2023 Nov 17. PMID 37986328, Free PMC Article
    2. 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
    3. 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
    4. In vitro assays of orphan glycosyltransferases and their application to identify Notch xylosyltransferases. Sethi MK, et al. Methods Mol Biol, 2013. PMID 23765671
    5. 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

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pan-cancer analysis of the prognostic significance and oncogenic role of GXYLT2.
      Title: Pan-cancer analysis of the prognostic significance and oncogenic role of GXYLT2.
    2. 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.
    3. 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.
    4. 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.
    5. 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)

    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
    		  
    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
    		  
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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