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] See more...

Aliases for GXYLT2 Gene

Aliases for GXYLT2 Gene

  • Glucoside Xylosyltransferase 2 2 3 4 5
  • Glycosyltransferase 8 Domain-Containing Protein 4 3 4
  • Glycosyltransferase 8 Domain Containing 4 2 3
  • GLT8D4 3 4
  • EC 2.4.2.42 4
  • EC 2.4.1 51
  • GXYLT2 5

External Ids for GXYLT2 Gene

Previous HGNC Symbols for GXYLT2 Gene

  • GLT8D4

Previous GeneCards Identifiers for GXYLT2 Gene

  • GC03P073023
  • GC03P072937
  • GC03P072888

Summaries for GXYLT2 Gene

Entrez Gene Summary for GXYLT2 Gene

  • 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]

GeneCards Summary for GXYLT2 Gene

GXYLT2 (Glucoside Xylosyltransferase 2) is a Protein Coding gene. Diseases associated with GXYLT2 include Inflammatory Bowel Disease 19 and Mandibulofacial Dysostosis With Alopecia. Among its related pathways are Mucin type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and UDP-xylosyltransferase activity. An important paralog of this gene is GXYLT1.

UniProtKB/Swiss-Prot Summary for GXYLT2 Gene

  • Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GXYLT2 Gene

Genomics for GXYLT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GXYLT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J072847 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -0.3 -275 2.9 SP1 GATAD2A PRDM10 ZNF629 RFX1 IKZF1 NFKBIZ POLR2A BACH1 TARDBP SHQ1 GXYLT2 lnc-GXYLT2-3 lnc-RYBP-9 lnc-GXYLT2-1 RYBP
GH03J072972 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 23.2 +124.6 124617 2.1 GATAD2A IKZF1 NFKBIZ RCOR2 PRDM1 RXRB IKZF2 SP1 TRIM22 EED PPP4R2 GXYLT2 EBLN2 HSALNG0026839 piR-36323-002 SHQ1 lnc-GXYLT2-1
GH03J072959 Enhancer 1.1 Ensembl ENCODE dbSUPER 21.3 +112.8 112818 3.9 GATAD2A PRDM10 TFE3 RFX1 PRDM1 PATZ1 SP1 ZNF24 FOXJ2 CEBPA GXYLT2 PPP4R2 HSALNG0026839 piR-36323-002 SHQ1 lnc-GXYLT2-1
GH03J072976 Enhancer 0.9 Ensembl ENCODE 23.2 +128.3 128279 4 CREB1 ATF7 RELA TCF12 IKZF2 EED ARID3A DPF2 RELB CEBPB SHQ1 GXYLT2 RNU2-64P HSALNG0026839 PPP4R2 piR-36323-002 lnc-GXYLT2-1
GH03J072967 Enhancer 1.1 ENCODE dbSUPER 18.8 +119.5 119466 1.6 GATAD2A ATF7 TFE3 SOX13 IKZF1 NFKBIZ RCOR2 RXRB IRF2 SP1 GXYLT2 PPP4R2 HSALNG0026839 piR-36323-002 SHQ1 lnc-GXYLT2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GXYLT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GXYLT2

Genomic Locations for GXYLT2 Gene

Genomic Locations for GXYLT2 Gene
chr3:72,848,522-72,998,138
(GRCh38/hg38)
Size:
149,617 bases
Orientation:
Plus strand
chr3:72,937,224-73,047,289
(GRCh37/hg19)
Size:
110,066 bases
Orientation:
Plus strand

Genomic View for GXYLT2 Gene

Genes around GXYLT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GXYLT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GXYLT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GXYLT2 Gene

Proteins for GXYLT2 Gene

  • Protein details for GXYLT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0PJZ3-GXLT2_HUMAN
    Recommended name:
    Glucoside xylosyltransferase 2
    Protein Accession:
    A0PJZ3

    Protein attributes for GXYLT2 Gene

    Size:
    443 amino acids
    Molecular mass:
    51056 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI27734.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for GXYLT2 Gene

Selected DME Specific Peptides for GXYLT2 Gene

A0PJZ3:
  • HLAVVACG
  • NSGVMLMN
  • SLLYVDTD
  • WNYRPDHC

Post-translational modifications for GXYLT2 Gene

  • Glycosylation at Asn233 and Asn274
  • Modification sites at PhosphoSitePlus

Other Protein References for GXYLT2 Gene

Domains & Families for GXYLT2 Gene

Gene Families for GXYLT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for GXYLT2 Gene

Suggested Antigen Peptide Sequences for GXYLT2 Gene

GenScript: Design optimal peptide antigens:
  • Glycosyltransferase 8 domain-containing protein 4 (GXLT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A0PJZ3

UniProtKB/Swiss-Prot:

GXLT2_HUMAN :
  • Belongs to the glycosyltransferase 8 family.
Family:
  • Belongs to the glycosyltransferase 8 family.
genes like me logo Genes that share domains with GXYLT2: view

Function for GXYLT2 Gene

Molecular function for GXYLT2 Gene

UniProtKB/Swiss-Prot Function:
Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + H(+) + UDP; Xref=Rhea:RHEA:56064, Rhea:RHEA-COMP:14610, Rhea:RHEA-COMP:14611, ChEBI:CHEBI:15378, ChEBI:CHEBI:57632, ChEBI:CHEBI:58223, ChEBI:CHEBI:140575, ChEBI:CHEBI:140576; EC=2.4.2.42; Evidence={ECO:0000250|UniProtKB:Q4G148};.

Enzyme Numbers (IUBMB) for GXYLT2 Gene

Phenotypes From GWAS Catalog for GXYLT2 Gene

Gene Ontology (GO) - Molecular Function for GXYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0035252 UDP-xylosyltransferase activity IBA,IDA 19940119
genes like me logo Genes that share ontologies with GXYLT2: view

Phenotypes for GXYLT2 Gene

genes like me logo Genes that share phenotypes with GXYLT2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GXYLT2

CRISPR Products

miRNA for GXYLT2 Gene

miRTarBase miRNAs that target GXYLT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GXYLT2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GXYLT2 Gene

Localization for GXYLT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GXYLT2 Gene

Membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GXYLT2 gene
Compartment Confidence
golgi apparatus 3
endoplasmic reticulum 2
extracellular 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Midbody ring (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GXYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GXYLT2: view

Pathways & Interactions for GXYLT2 Gene

PathCards logo

SuperPathways for GXYLT2 Gene

genes like me logo Genes that share pathways with GXYLT2: view

Pathways by source for GXYLT2 Gene

1 KEGG pathway for GXYLT2 Gene

Interacting Proteins for GXYLT2 Gene

SIGNOR curated interactions for GXYLT2 Gene

Activates:

Gene Ontology (GO) - Biological Process for GXYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016266 O-glycan processing IBA,IDA 19940119
genes like me logo Genes that share ontologies with GXYLT2: view

Drugs & Compounds for GXYLT2 Gene

(2) Drugs for GXYLT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
UDP-D-Xylose Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GXYLT2: view

Transcripts for GXYLT2 Gene

mRNA/cDNA for GXYLT2 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GXYLT2

Alternative Splicing Database (ASD) splice patterns (SP) for GXYLT2 Gene

No ASD Table

Relevant External Links for GXYLT2 Gene

GeneLoc Exon Structure for
GXYLT2

Expression for GXYLT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GXYLT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GXYLT2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x4.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GXYLT2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GXYLT2

SOURCE GeneReport for Unigene cluster for GXYLT2 Gene:

Hs.710275
genes like me logo Genes that share expression patterns with GXYLT2: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GXYLT2 Gene

Orthologs for GXYLT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GXYLT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GXYLT2 30 31
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GXYLT2 30 31
  • 93.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GXYLT2 30 31
  • 93.18 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gxylt2 30 17 31
  • 83.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gxylt2 30
  • 83.37 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GXYLT2 31
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GXYLT2 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GXYLT2 30 31
  • 76.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GXYLT2 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gxylt2 30
  • 72.99 (n)
Zebrafish
(Danio rerio)
Actinopterygii gxylt2 30 31
  • 69.34 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9996 30 31
  • 54.95 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010187 30
  • 53.84 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6658 31
  • 43 (a)
ManyToMany
-- 31
  • 36 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Species where no ortholog for GXYLT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GXYLT2 Gene

ENSEMBL:
Gene Tree for GXYLT2 (if available)
TreeFam:
Gene Tree for GXYLT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GXYLT2: view image

Paralogs for GXYLT2 Gene

Paralogs for GXYLT2 Gene

(1) SIMAP similar genes for GXYLT2 Gene using alignment to 3 proteins:

  • GXLT2_HUMAN
  • C9J3Q6_HUMAN
  • C9JND4_HUMAN

Pseudogenes.org Pseudogenes for GXYLT2 Gene

genes like me logo Genes that share paralogs with GXYLT2: view

Variants for GXYLT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GXYLT2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
767917 Benign: not provided 72,922,263(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
775201 Benign: not provided 72,922,258(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for GXYLT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GXYLT2 Gene

Variant ID Type Subtype PubMed ID
esv2725403 CNV deletion 23290073
esv2763278 CNV gain 21179565
nsv1012522 CNV gain 25217958
nsv1109522 CNV deletion 24896259
nsv1112829 CNV deletion 24896259
nsv1114390 CNV deletion 24896259
nsv3875 CNV deletion 18451855
nsv473238 CNV novel sequence insertion 20440878
nsv473291 CNV novel sequence insertion 20440878
nsv590632 CNV loss 21841781
nsv590633 CNV loss 21841781
nsv965173 CNV duplication 23825009

Variation tolerance for GXYLT2 Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.91; 59.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GXYLT2 Gene

Human Gene Mutation Database (HGMD)
GXYLT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GXYLT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GXYLT2 Gene

Disorders for GXYLT2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GXYLT2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GXYLT2

genes like me logo Genes that share disorders with GXYLT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GXYLT2 Gene

Publications for GXYLT2 Gene

  1. Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats. (PMID: 19940119) Sethi MK … Bakker H (The Journal of biological chemistry 2010) 2 3 4
  2. GXYLT2 accelerates cell growth and migration by regulating the Notch pathway in human cancer cells. (PMID: 30716301) Cui Q … Zhao H (Experimental cell research 2019) 3
  3. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3

Products for GXYLT2 Gene

Sources for GXYLT2 Gene