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Aliases for XYLT2 Gene

Aliases for XYLT2 Gene

  • Xylosyltransferase 2 2 3 5
  • Xylosyltransferase II 2 3 4
  • Peptide O-Xylosyltransferase 1 3 4
  • Protein Xylosyltransferase 2 2 3
  • EC 4 56
  • 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 Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include acetylglucosaminyltransferase activity and protein xylosyltransferase activity. An important paralog of this gene is XYLT1.

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

Additional gene information for XYLT2 Gene

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

Genomics for XYLT2 Gene

GeneHancer (GH) Regulatory Elements for XYLT2 Gene

Promoters and enhancers for XYLT2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I050344 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 560.7 +0.4 360 3 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF48 YY1 SLC30A9 ZNF121 ZNF766 XYLT2 CACNA1G-AS1 LUC7L3 LOC105371824 MYCBPAP ENSG00000253102 MBTD1 SAMD14 MRPL27 PIR48275
GH17I050345 Enhancer 0.4 FANTOM5 550.8 -1.6 -1568 0.3 HLF XYLT2 TMEM92-AS1
GH17I050395 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.5 +50.8 50778 2.7 CLOCK MLX DMAP1 IRF4 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC LRRC59 ENSG00000253102 ENSG00000262837 MBTD1 LOC105371824 LUC7L3 CACNA1G-AS1 UTP18 FLJ45513 FAM117A
GH17I050171 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.3 -153.5 -153510 42 CLOCK DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D COL1A1 SGCA ENSG00000262837 LUC7L3 TMEM92-AS1 TMEM92 XYLT2 ZNF652 PPP1R9B FLJ45513
GH17I050423 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.3 +81.0 80961 6.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ACSF2 MBTD1 ENSG00000262837 RSAD1 UTP18 XYLT2 CHAD ENSG00000253102 FAM117A LRRC59
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around XYLT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the XYLT2 gene promoter:

Genomic Locations for XYLT2 Gene

Genomic Locations for XYLT2 Gene
17,107 bases
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:
    Recommended name:
    Xylosyltransferase 2
    Protein Accession:
    Secondary Accessions:
    • Q6UY41
    • Q86V00

    Protein attributes for XYLT2 Gene

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

    Alternative splice isoforms for XYLT2 Gene


neXtProt entry for XYLT2 Gene

Selected DME Specific Peptides for XYLT2 Gene


Post-translational modifications for XYLT2 Gene

  • Contains disulfide bonds.
  • Glycosylation at posLast=6161, posLast=8787, posLast=122122, isoforms=2327, isoforms=2571, and isoforms=683

Other Protein References for XYLT2 Gene

Domains & Families for XYLT2 Gene

Gene Families for XYLT2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for XYLT2 Gene


Suggested Antigen Peptide Sequences for XYLT2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 14 family. XylT subfamily.
  • 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:
UDP-alpha-D-xylose + [protein]-L-serine = UDP + [protein]-3-O-(beta-D-xylosyl)-L-serine.
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

Phenotypes From GWAS Catalog for XYLT2 Gene

Gene Ontology (GO) - Molecular Function for XYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030158 protein xylosyltransferase activity TAS,IEA --
genes like me logo Genes that share ontologies with XYLT2: view
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

Clone Products

No data available for 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

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 XYLT2 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 4
extracellular 2
cytosol 2
plasma membrane 1
mitochondrion 1
nucleus 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for XYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005575 cellular_component ND --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus 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.

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:0015012 heparan sulfate proteoglycan biosynthetic process IMP 26027496
GO:0030166 proteoglycan biosynthetic process IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0030206 chondroitin sulfate biosynthetic process IEA --
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

(4) Drugs for XYLT2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
  • alpha-D-Xylopyranosyl ester
  • alpha-delta-Xylopyranosyl ester
  • UDP Xylose
  • UDP-alpha
  • UDP-D-Xylose
genes like me logo Genes that share compounds with XYLT2: view

Transcripts for XYLT2 Gene

Unigene Clusters for XYLT2 Gene

Xylosyltransferase II:
Representative Sequences:

Clone Products

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
SP2: - -
SP3: -

Relevant External Links for XYLT2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for XYLT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for XYLT2 Gene

Protein tissue co-expression partners for XYLT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of XYLT2 Gene:


SOURCE GeneReport for Unigene cluster for XYLT2 Gene:


mRNA Expression by UniProt/SwissProt for XYLT2 Gene:

Tissue specificity: Widely expressed. Expressed at higher level in kidney and pancreas.

Evidence on tissue expression from TISSUES for XYLT2 Gene

  • Pancreas(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for XYLT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • scalp
  • skull
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with XYLT2: view

Orthologs for XYLT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for XYLT2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia XYLT2 33 34
  • 99.61 (n)
(Canis familiaris)
Mammalia XYLT2 33 34
  • 92.45 (n)
(Rattus norvegicus)
Mammalia Xylt2 33
  • 89.54 (n)
(Mus musculus)
Mammalia Xylt2 33 16 34
  • 89.29 (n)
(Bos Taurus)
Mammalia XYLT2 33 34
  • 88.19 (n)
(Monodelphis domestica)
Mammalia XYLT2 34
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia XYLT2 34
  • 70 (a)
(Gallus gallus)
Aves XYLT2 33 34
  • 77.12 (n)
(Anolis carolinensis)
Reptilia XYLT2 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia xylt2 33
  • 67.23 (n)
Str.17226 33
(Danio rerio)
Actinopterygii XYLT2 (2 of 2) 34
  • 65 (a)
zgc:194562 33
  • 64.45 (n)
XYLT2 (1 of 2) 34
  • 52 (a)
fruit fly
(Drosophila melanogaster)
Insecta oxt 35 34
  • 42 (a)
(Caenorhabditis elegans)
Secernentea Y50D4C.4 35
  • 39 (a)
sqv-6 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
Species where no ortholog for XYLT2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for XYLT2 (if available)
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 Variation AA Info Type
rs6504649 risk-factor, Pseudoxanthoma elasticum, modifier of severity of, Pseudoxanthoma elasticum (PXE) [MIM:264800] 50,360,095(+) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs797044806 pathogenic, Spondyloocular syndrome, autosomal recessive 50,354,466(+) CCCCCC/CCCCCCC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs797044807 pathogenic, Spondyloocular syndrome, autosomal recessive 50,354,013(+) GG/G coding_sequence_variant, frameshift, non_coding_transcript_variant
rs199705453 uncertain-significance, not provided 50,360,005(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs370835556 uncertain-significance, not specified 50,354,105(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv1694921 CNV deletion 17803354
esv2130764 CNV deletion 18987734
esv2716032 CNV deletion 23290073
esv3152679 CNV deletion 24192839
esv3554527 CNV deletion 23714750
esv3554528 CNV deletion 23714750
esv4968 CNV loss 18987735
esv7737 CNV loss 19470904
nsv1071393 CNV deletion 25765185
nsv1121526 CNV deletion 24896259
nsv112280 CNV deletion 16902084
nsv1148745 CNV deletion 26484159
nsv512494 CNV loss 21212237
nsv519530 CNV loss 19592680
nsv833475 CNV loss 17160897
nsv833476 CNV loss 17160897
nsv955422 CNV deletion 24416366

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)

Additional Variant Information for XYLT2 Gene

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

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

Disorders for XYLT2 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search XYLT2 in MalaCards View complete list of genes associated with diseases


  • 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}.
  • 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.

Additional Disease Information for XYLT2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Götting C … Kleesiek K (Journal of molecular biology 2000) 2 3 4 22 58
  2. Xylosyltransferase gene variants and their role in essential hypertension. (PMID: 19197251) Pönighaus C … Götting C (American journal of hypertension 2009) 3 22 44 58
  3. The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels. (PMID: 19014925) Ambrosius M … Götting C (Clinical biochemistry 2009) 3 22 44 58
  4. Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes. (PMID: 18789912) Hendig D … Götting C (Clinica chimica acta; international journal of clinical chemistry 2008) 3 22 44 58
  5. The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes. (PMID: 17003309) Schön S … Götting C (Diabetes care 2006) 3 22 44 58

Products for XYLT2 Gene

Sources for XYLT2 Gene

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