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Aliases for XYLT2 Gene

Aliases for XYLT2 Gene

  • Xylosyltransferase 2 2
  • Xylosyltransferase II 2 3 4 5
  • Peptide O-Xylosyltransferase 1 3 4
  • Protein Xylosyltransferase 2 2 3
  • EC 2.4.2.26 4 63
  • XylT-II 3 4
  • XT-II 3 4
  • XT2 3 4
  • UDP-D-Xylose:Proteoglycan Core Protein Beta-D-Xylosyltransferase 3
  • PXYLT2 3
  • SOS 3

External Ids for XYLT2 Gene

Previous GeneCards Identifiers for XYLT2 Gene

  • GC17P048136
  • GC17P050905
  • GC17P048765
  • GC17P048899
  • GC17P048900
  • GC17P045778
  • GC17P048423
  • GC17P043791

Summaries for XYLT2 Gene

Entrez Gene Summary for XYLT2 Gene

  • The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

GeneCards Summary for XYLT2 Gene

XYLT2 (Xylosyltransferase 2) is a Protein Coding gene. Diseases associated with XYLT2 include spondyloocular syndrome and pseudoxanthoma elasticum. Among its related pathways are Metabolism and heparan sulfate biosynthesis. GO annotations related to this gene include acetylglucosaminyltransferase activity and protein xylosyltransferase activity. An important paralog of this gene is GCNT1.

UniProtKB/Swiss-Prot for XYLT2 Gene

  • Involved in the formation of heparan sulfate and chondroitin sulfate proteoglycans (PubMed:26027496). Probably catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes (By similarity). Its enzyme activity has not been demonstrated.

Gene Wiki entry for XYLT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XYLT2 Gene

Genomics for XYLT2 Gene

Regulatory Elements for XYLT2 Gene

Promoters for XYLT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around XYLT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for XYLT2 Gene

Chromosome:
17
Start:
50,346,032 bp from pter
End:
50,363,138 bp from pter
Size:
17,107 bases
Orientation:
Plus strand

Genomic View for XYLT2 Gene

Genes around XYLT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XYLT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XYLT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XYLT2 Gene

Proteins for XYLT2 Gene

  • Protein details for XYLT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1B5-XYLT2_HUMAN
    Recommended name:
    Xylosyltransferase 2
    Protein Accession:
    Q9H1B5
    Secondary Accessions:
    • Q6UY41
    • Q86V00

    Protein attributes for XYLT2 Gene

    Size:
    865 amino acids
    Molecular mass:
    96767 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for XYLT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XYLT2 Gene

Proteomics data for XYLT2 Gene at MOPED

Post-translational modifications for XYLT2 Gene

  • Contains disulfide bonds.
  • Glycosylation at Ser 61, Ser 87, Asn 122, Asn 327, Thr 571, and Asn 683
  • Modification sites at PhosphoSitePlus

Other Protein References for XYLT2 Gene

Antibody Products

Domains & Families for XYLT2 Gene

Protein Domains for XYLT2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for XYLT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H1B5

UniProtKB/Swiss-Prot:

XYLT2_HUMAN :
  • Belongs to the glycosyltransferase 14 family. XylT subfamily.
Family:
  • Belongs to the glycosyltransferase 14 family. XylT subfamily.
genes like me logo Genes that share domains with XYLT2: view

Function for XYLT2 Gene

Molecular function for XYLT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptor protein substrate.
UniProtKB/Swiss-Prot Function:
Involved in the formation of heparan sulfate and chondroitin sulfate proteoglycans (PubMed:26027496). Probably catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes (By similarity). Its enzyme activity has not been demonstrated.

Enzyme Numbers (IUBMB) for XYLT2 Gene

genes like me logo Genes that share phenotypes with XYLT2: view

Human Phenotype Ontology for XYLT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for XYLT2 Gene

MGI Knock Outs for XYLT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for XYLT2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for XYLT2 Gene

Localization for XYLT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XYLT2 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XYLT2 Gene COMPARTMENTS Subcellular localization image for XYLT2 gene
Compartment Confidence
endoplasmic reticulum 4
golgi apparatus 4
cytosol 2
extracellular 2
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for XYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with XYLT2: view

Pathways & Interactions for XYLT2 Gene

genes like me logo Genes that share pathways with XYLT2: view

UniProtKB/Swiss-Prot Q9H1B5-XYLT2_HUMAN

  • Pathway: Glycan metabolism; chondroitin sulfate biosynthesis.
  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.

Interacting Proteins for XYLT2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000017003%0d%0a9606.ENSP00000029410%0d%0a
Selected Interacting proteins: ENSP00000017003 for XYLT2 Gene via STRING

Symbol External ID(s) Details
B4GALT7

Gene Ontology (GO) - Biological Process for XYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process IEA,NAS 11099377
GO:0030206 chondroitin sulfate biosynthetic process IEA --
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process IMP 26027496
genes like me logo Genes that share ontologies with XYLT2: view

No data available for SIGNOR curated interactions for XYLT2 Gene

Drugs & Compounds for XYLT2 Gene

(2) Drugs for XYLT2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) Additional Compounds for XYLT2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dermatan
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
24967-94-0
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 XYLT2: view

Transcripts for XYLT2 Gene

Unigene Clusters for XYLT2 Gene

Xylosyltransferase II:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XYLT2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11
SP1:
SP2: - -
SP3: -

Relevant External Links for XYLT2 Gene

GeneLoc Exon Structure for
XYLT2
ECgene alternative splicing isoforms for
XYLT2

Expression for XYLT2 Gene

mRNA expression in normal human tissues for XYLT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for XYLT2 Gene

This gene is overexpressed in Stomach (x7.2).

Protein differential expression in normal tissues from HIPED for XYLT2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (58.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for XYLT2 Gene



SOURCE GeneReport for Unigene cluster for XYLT2 Gene Hs.463416

mRNA Expression by UniProt/SwissProt for XYLT2 Gene

Q9H1B5-XYLT2_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in kidney and pancreas.
genes like me logo Genes that share expression patterns with XYLT2: view

Protein tissue co-expression partners for XYLT2 Gene

Primer Products

In Situ Assay Products

Orthologs for XYLT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for XYLT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XYLT2 36
  • 96 (a)
OneToOne
XYLT2 35
  • 99.61 (n)
  • 99.54 (a)
cow
(Bos Taurus)
Mammalia XYLT2 35
  • 88.19 (n)
  • 88.19 (a)
XYLT2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XYLT2 35
  • 92.45 (n)
  • 95.26 (a)
XYLT2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xylt2 16
Xylt2 35
  • 89.29 (n)
  • 93.53 (a)
Xylt2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia XYLT2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XYLT2 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xylt2 35
  • 89.54 (n)
  • 93.63 (a)
chicken
(Gallus gallus)
Aves XYLT2 35
  • 77.12 (n)
  • 78.55 (a)
XYLT2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XYLT2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17226 35
xylt2 35
  • 67.23 (n)
  • 69.68 (a)
zebrafish
(Danio rerio)
Actinopterygii XYLT2 (1 of 2) 36
  • 52 (a)
OneToMany
XYLT2 (2 of 2) 36
  • 65 (a)
OneToMany
zgc:194562 35
  • 64.45 (n)
  • 64.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta oxt 37
  • 42 (a)
oxt 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y50D4C.4 37
  • 39 (a)
sqv-6 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for XYLT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)

Evolution for XYLT2 Gene

ENSEMBL:
Gene Tree for XYLT2 (if available)
TreeFam:
Gene Tree for XYLT2 (if available)

Paralogs for XYLT2 Gene

Paralogs for XYLT2 Gene

(1) SIMAP similar genes for XYLT2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with XYLT2: view

Variants for XYLT2 Gene

Sequence variations from dbSNP and Humsavar for XYLT2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs12451299 - 50,354,963(+) CCTGA(C/G/T)GATGT nc-transcript-variant, reference, missense
rs6504649 Pseudoxanthoma elasticum (PXE) 50,360,095(+) GCACA(C/G/T)ACAGC nc-transcript-variant, reference, missense
rs739990 - 50,353,671(-) GAACC(C/T)TCGCC nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime
VAR_071276 -
VAR_071277 -

Structural Variations from Database of Genomic Variants (DGV) for XYLT2 Gene

Variant ID Type Subtype PubMed ID
nsv833475 CNV Loss 17160897
nsv833476 CNV Loss 17160897
nsv512494 CNV Loss 21212237
esv2716032 CNV Deletion 23290073
esv1694921 CNV Deletion 17803354
esv2130764 CNV Deletion 18987734
esv4968 CNV Deletion 18987735
esv7737 CNV Loss 19470904
nsv112280 CNV Loss 16902084
nsv519530 CNV Loss 19592680

Variation tolerance for XYLT2 Gene

Residual Variation Intolerance Score: 25.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.09; 87.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XYLT2 Gene

HapMap Linkage Disequilibrium report
XYLT2
Human Gene Mutation Database (HGMD)
XYLT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XYLT2 Gene

Disorders for XYLT2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for XYLT2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondyloocular syndrome
  • spondylo-ocular syndrome
pseudoxanthoma elasticum
  • pseudoxanthoma elasticum, modifier of severity of
eastern equine encephalitis
  • eee
angioid streaks
limited scleroderma
  • limited cutaneous systemic sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search XYLT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XYLT2_HUMAN
  • Spondyloocular syndrome (SOS) [MIM:605822]: A syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis. {ECO:0000269 PubMed:26027496}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pseudoxanthoma elasticum (PXE) [MIM:264800]: A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau dorange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. {ECO:0000269 PubMed:16571645}. Note=The gene represented in this entry acts as a disease modifier. PXE patients carrying causative ABCC6 mutations, manifest a more severe disease course characterized by earlier onset, frequent skin lesions and higher organ involvement, in the presence of XYLT2 variants. {ECO:0000269 PubMed:16571645}.

Relevant External Links for XYLT2

Genetic Association Database (GAD)
XYLT2
Human Genome Epidemiology (HuGE) Navigator
XYLT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
XYLT2
genes like me logo Genes that share disorders with XYLT2: view

No data available for Genatlas for XYLT2 Gene

Publications for XYLT2 Gene

  1. Molecular cloning and expression of human UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase and its first isoform XT-II. (PMID: 11099377) Goetting C. … Kleesiek K. (J. Mol. Biol. 2000) 2 3 4 23 67
  2. The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels. (PMID: 19014925) Ambrosius M. … GAPtting C. (Clin. Biochem. 2009) 3 23
  3. High xylosyltransferase activity in children and during mineralization of osteoblast-like SAOS-2 cells. (PMID: 18763033) Prante C. … GAPtting C. (Glycoconj. J. 2009) 3 23
  4. Xylosyltransferase gene variants and their role in essential hypertension. (PMID: 19197251) PAPnighaus C. … GAPtting C. (Am. J. Hypertens. 2009) 3 23
  5. Analysis of xylosyltransferase II binding to the anticoagulant heparin. (PMID: 19289103) Casanova J.C. … GAPtting C. (Biochem. Biophys. Res. Commun. 2009) 3 23

Products for XYLT2 Gene

Sources for XYLT2 Gene

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