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Aliases for GXYLT2 Gene

Aliases for GXYLT2 Gene

  • Glucoside Xylosyltransferase 2 2 3 5
  • Glycosyltransferase 8 Domain-Containing Protein 4 3 4
  • Glycosyltransferase 8 Domain Containing 4 2 3
  • GLT8D4 3 4
  • EC 2.4.2.n2 4
  • EC 2.4.1 58

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. Among its related pathways are Other types of O-glycan biosynthesis. 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 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.

Additional gene information for GXYLT2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GXYLT2 Gene

Genomics for GXYLT2 Gene

Regulatory Elements for GXYLT2 Gene

Enhancers for GXYLT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H072972 1.4 FANTOM5 ENCODE dbSUPER 23.2 +124.5 124503 1 BMI1 THRB RARA YY1 ATF7 CREM IKZF2 SP5 SREBF1 KLF16 PPP4R2 GXYLT2 EBLN2 GC03M072929
GH03H072959 1.3 Ensembl ENCODE dbSUPER 21.3 +112.8 112818 3 INSM2 MAX FEZF1 CEBPG YY1 ZFHX2 ZNF366 PATZ1 SCRT2 PRDM10 GXYLT2 PPP4R2 GC03M072929
GH03H072967 1.2 ENCODE dbSUPER 18.8 +119.5 119467 1 FOXA2 MLX ARID4B DMAP1 YY1 ATF7 SP5 ZHX2 MXD4 NFYC GXYLT2 PPP4R2 GC03M072929
GH03H072937 1.3 Ensembl ENCODE 14.1 +90.3 90254 1 HDGF PKNOX1 ATF1 ARNT ARID4B DMAP1 YY1 TCF12 ZNF766 GATA2 SHQ1 GXYLT2 GC03M072929 PPP4R2
GH03H072952 1.3 ENCODE dbSUPER 13 +104.8 104782 1 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 TCF12 ZNF121 FOS ATF7 GXYLT2 GC03M072929 PPP4R2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GXYLT2 on UCSC Golden Path with GeneCards custom track

Promoters for GXYLT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000154556 -322 1601 PKNOX1 ARID4B SIN3A DMAP1 YBX1 ZNF2 ZNF207 SP5 MXD4 JUNB

Genomic Location for GXYLT2 Gene

Chromosome:
3
Start:
72,848,522 bp from pter
End:
72,998,138 bp from pter
Size:
149,617 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=Translation N-terminally extended.; 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 isoforms=233 and isoforms=274
  • 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
  • Predicted secreted proteins

Protein Domains for GXYLT2 Gene

Suggested Antigen Peptide Sequences for GXYLT2 Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
UDP-alpha-D-xylose + beta-D-glucosyl-R = UDP + alpha-D-xylose-(1->3)-beta-D-glucosyl-R.
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.

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 IDA 19940119
genes like me logo Genes that share ontologies with GXYLT2: view

Phenotypes for GXYLT2 Gene

GenomeRNAi human phenotypes for GXYLT2:
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

Clone Products

  • Applied Biological Materials Clones for GXYLT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GXYLT2: view

Pathways & Interactions 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 IDA 19940119
genes like me logo Genes that share ontologies with GXYLT2: view

Drugs & Compounds for GXYLT2 Gene

(1) Drugs for GXYLT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(1) Additional Compounds for GXYLT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
UDP-D-Xylose
  • alpha-D-Xylopyranosyl ester
  • alpha-delta-Xylopyranosyl ester
  • UDP Xylose
  • UDP-alpha
  • UDP-D-Xylose
3616-06-6
genes like me logo Genes that share compounds with GXYLT2: view

Transcripts for GXYLT2 Gene

mRNA/cDNA for GXYLT2 Gene

(5) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GXYLT2 Gene

Glucoside xylosyltransferase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GXYLT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for GXYLT2 Gene

GeneLoc Exon Structure for
GXYLT2
ECgene alternative splicing isoforms for
GXYLT2

Expression for GXYLT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for GXYLT2 Gene



NURSA nuclear receptor signaling pathways regulating expression of GXYLT2 Gene:

GXYLT2

SOURCE GeneReport for Unigene cluster for GXYLT2 Gene:

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

Primer Products

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 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia GXYLT2 33 34
  • 93.73 (n)
cow
(Bos Taurus)
Mammalia GXYLT2 33 34
  • 93.18 (n)
mouse
(Mus musculus)
Mammalia Gxylt2 33 16 34
  • 83.86 (n)
rat
(Rattus norvegicus)
Mammalia Gxylt2 33
  • 83.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GXYLT2 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GXYLT2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves GXYLT2 33 34
  • 76.34 (n)
lizard
(Anolis carolinensis)
Reptilia GXYLT2 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gxylt2 33
  • 72.99 (n)
zebrafish
(Danio rerio)
Actinopterygii gxylt2 33 34
  • 69.34 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9996 33 34
  • 54.95 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010187 33
  • 53.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6658 34
  • 43 (a)
ManyToMany
-- 34
  • 36 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
Species where no ortholog for GXYLT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for GXYLT2 Gene

Paralogs for GXYLT2 Gene

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

Pseudogenes.org Pseudogenes for GXYLT2 Gene

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

Variants for GXYLT2 Gene

Sequence variations from dbSNP and Humsavar for GXYLT2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000003926 -- 72,943,737(+) ACCAT(A/G)TCTAA intron-variant
rs1000015965 -- 72,971,398(+) CCATT(C/G)TCTAC intron-variant
rs1000031939 -- 72,860,951(+) GAGCC(A/G)GTTGC intron-variant, upstream-variant-2KB
rs1000062831 -- 72,898,104(+) TAGTG(G/T)TATTT intron-variant
rs1000096912 -- 72,905,791(+) GCTCA(A/G)TATGG intron-variant

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)

Relevant External Links 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

Relevant External Links for GXYLT2

Genetic Association Database (GAD)
GXYLT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GXYLT2

No disorders were found for GXYLT2 Gene.

No data available for MalaCards , 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 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3 60
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  5. In vitro assays of orphan glycosyltransferases and their application to identify Notch xylosyltransferases. (PMID: 23765671) Sethi MK … Bakker H (Methods in molecular biology (Clifton, N.J.) 2013) 3 60

Products for GXYLT2 Gene

Sources for GXYLT2 Gene

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