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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 63

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

  • GXYLT2 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]

GeneCards Summary for GXYLT2 Gene

GXYLT2 (Glucoside Xylosyltransferase 2) is a Protein Coding gene. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. 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.

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around GXYLT2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for GXYLT2 Gene at MOPED

Selected DME Specific Peptides for GXYLT2 Gene

Post-translational modifications for GXYLT2 Gene

  • Glycosylation at Asn 233 and Asn 274
  • Modification sites at PhosphoSitePlus

Other Protein References for GXYLT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GXYLT2 Gene

Gene Families for GXYLT2 Gene

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

Gene Ontology (GO) - Molecular Function for GXYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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
Jensen Localization Image for GXYLT2 Gene COMPARTMENTS Subcellular localization image for GXYLT2 gene
Compartment Confidence
golgi apparatus 3
endoplasmic reticulum 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for GXYLT2 Gene

Pathways & Interactions for GXYLT2 Gene

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

Interacting Proteins for GXYLT2 Gene

SIGNOR curated interactions for GXYLT2 Gene

Activates:

Gene Ontology (GO) - Biological Process for GXYLT2 Gene

None

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

(3) 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:

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 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, MOPED, and MaxQB for GXYLT2 Gene



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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia GXYLT2 35
  • 93.18 (n)
  • 96.87 (a)
GXYLT2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GXYLT2 35
  • 93.73 (n)
  • 97.72 (a)
GXYLT2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gxylt2 35
  • 83.86 (n)
  • 87.35 (a)
Gxylt2 16
Gxylt2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GXYLT2 35
  • 100 (n)
  • 100 (a)
GXYLT2 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gxylt2 35
  • 83.37 (n)
  • 87.1 (a)
oppossum
(Monodelphis domestica)
Mammalia GXYLT2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GXYLT2 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves GXYLT2 35
  • 76.34 (n)
  • 81.41 (a)
GXYLT2 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GXYLT2 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gxylt2 35
  • 72.99 (n)
  • 79.52 (a)
zebrafish
(Danio rerio)
Actinopterygii gxylt2 35
  • 69.34 (n)
  • 75.07 (a)
gxylt2 36
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010187 35
  • 53.84 (n)
  • 47.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9996 35
  • 54.95 (n)
  • 50.32 (a)
CG9996 36
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
CSA.6658 36
  • 43 (a)
ManyToMany
Species with no ortholog for GXYLT2:
  • 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
rs1052278 -- 72,975,199(+) TGTGA(A/C)CAAGG utr-variant-3-prime
rs1847202 -- 72,885,220(+) TATGA(C/T)TTAAG intron-variant
rs1108154 -- 72,975,458(+) TTCCT(A/T)AACGT downstream-variant-500B
rs1907470 -- 72,965,545(+) AAGCC(A/G)AGAAG intron-variant
rs2322693 -- 72,933,424(+) TCATT(A/G)TATTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2725403 CNV Deletion 23290073
nsv3875 CNV Loss 18451855

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

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 M.K. … Bakker H. (J. Biol. Chem. 2010) 2 3 4 67
  2. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for GXYLT2 Gene

Sources for GXYLT2 Gene

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