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 a... See more...

Aliases for XYLT2 Gene

Aliases for XYLT2 Gene

  • Xylosyltransferase 2 2 3 4 5
  • Xylosyltransferase II 2 3 4
  • XT-II 2 3 4
  • Peptide O-Xylosyltransferase 1 3 4
  • Protein Xylosyltransferase 2 2 3
  • EC 2.4.2.26 4 50
  • XylT-II 3 4
  • PXYLT2 2 3
  • XT2 3 4
  • UDP-D-Xylose:Proteoglycan Core Protein Beta-D-Xylosyltransferase 3
  • XYLT2 5
  • 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 heparan sulfate biosynthesis. 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 Summary for XYLT2 Gene

  • Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein.

Gene Wiki entry for XYLT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for XYLT2 Gene

Genomics for XYLT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for XYLT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around XYLT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for XYLT2

Top Transcription factor binding sites by QIAGEN in the XYLT2 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • GATA-2
  • ISGF-3
  • RORalpha1

Genomic Locations for XYLT2 Gene

Latest Assembly
chr17:50,346,126-50,363,138
(GRCh38/hg38)
Size:
17,013 bases
Orientation:
Plus strand

Previous Assembly
chr17:48,423,487-48,438,546
(GRCh37/hg19 by Entrez Gene)
Size:
15,060 bases
Orientation:
Plus strand

chr17:48,423,453-48,440,499
(GRCh37/hg19 by Ensembl)
Size:
17,047 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=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for XYLT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XYLT2 Gene

Selected DME Specific Peptides for XYLT2 Gene

Q9H1B5:
  • TPALKAYWEN
  • WDPKERLFRNFGGLLGPLDEPVA
  • EALVGAAGFP
  • NFLKSHGRDN
  • SSFWSVAG
  • QPSAQGPAE
  • PVAKVVRAVTSR
  • HMWRLGER
  • PPPEAPGRQNLSGAAA
  • LVVHGRA
  • GEKGRQRKPRPLDPGEGSKDTDSSAGRRGS
  • YTLLPAESFFHTVLE
  • AYTAFAR
  • FFARKFE
  • WDFFINLSA
  • VDGGSDW
  • YMEQSFQ
  • YIHVDKRS
  • HGDTGSVEGAPQPTDN
  • FTPKCEIVGKDALSALARAS
  • TIWGGAS
  • QYKHIVDWCGCSPNDFKPQDF
  • TVVWIDPTYVVATSYDI
  • GCKCQYKH
  • PDPKSELG
  • NVRVTPWRM
  • FWSVAGLCA
  • WSSLSPDPK

Post-translational modifications for XYLT2 Gene

  • Contains disulfide bonds.
  • Glycosylation at Ser61, Thr64, Ser67, Ser87, Asn122, Asn327, Thr571, and Asn683
  • Modification sites at PhosphoSitePlus

Other Protein References for XYLT2 Gene

Domains & Families for XYLT2 Gene

Gene Families for XYLT2 Gene

HGNC:
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

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58089, highly similar to Xylosyltransferase 2 (EC 2.4.2.26) (B4DT06_HUMAN)
  • Xylosyltransferase II (XYLT2_HUMAN)

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 Function:
Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:50192, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12567, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57632, ChEBI:CHEBI:58223, ChEBI:CHEBI:132085; EC=2.4.2.26; Evidence={ECO:0000269|PubMed:17189265, ECO:0000269|PubMed:18023272, ECO:0000269|PubMed:25748573, ECO:0000269|PubMed:26027496};.

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:0000287 magnesium ion binding IDA 18023272
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030145 manganese ion binding IDA 18023272
GO:0030158 protein xylosyltransferase activity IEA,NAS 11099377
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 Models for research

  • Taconic Biosciences Mouse Models for XYLT2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XYLT2

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

Golgi apparatus membrane. Single-pass type II membrane protein. Secreted.

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

Gene Ontology (GO) - Cellular Components for XYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA,TAS --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 25748573
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with XYLT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for XYLT2 Gene

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 IEA,IMP 17189265
GO:0018215 protein phosphopantetheinylation IEA --
GO:0030166 proteoglycan biosynthetic process IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
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

(8) Drugs for XYLT2 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2791
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2590
Dermatan sulfate Experimental Pharma 0
UDP-D-Xylose Experimental Pharma 0

(3) Additional Compounds for XYLT2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with XYLT2: view

Transcripts for XYLT2 Gene

mRNA/cDNA for XYLT2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XYLT2

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

Expression for XYLT2 Gene

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



Protein tissue co-expression partners for XYLT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for XYLT2

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.

Evidence on tissue expression from TISSUES for XYLT2 Gene

  • Pancreas(4.1)
  • Skin(2.3)
  • Stomach(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • scalp
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • 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
General:
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with XYLT2: view

Primer products for research

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 29 30
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia XYLT2 29 30
  • 92.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Xylt2 29
  • 89.54 (n)
Mouse
(Mus musculus)
Mammalia Xylt2 29 16 30
  • 89.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia XYLT2 29 30
  • 88.19 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia XYLT2 30
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia XYLT2 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves XYLT2 29 30
  • 77.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia XYLT2 30
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia xylt2 29
  • 67.23 (n)
Str.17226 29
Zebrafish
(Danio rerio)
Actinopterygii XYLT2 (2 of 2) 30
  • 65 (a)
OneToMany
zgc:194562 29
  • 64.45 (n)
XYLT2 (1 of 2) 30
  • 52 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta oxt 30 31
  • 36 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y50D4C.4 31
  • 39 (a)
sqv-6 30
  • 26 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 41 (a)
OneToMany
Species where no ortholog for XYLT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)

Evolution for XYLT2 Gene

ENSEMBL:
Gene Tree for XYLT2 (if available)
TreeFam:
Gene Tree for XYLT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for XYLT2: view image
Alliance of Genome Resources:
Additional Orthologs for XYLT2

Paralogs for XYLT2 Gene

Paralogs for XYLT2 Gene

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

  • XYLT2_HUMAN
  • B4DT06_HUMAN
  • D6RCT0_HUMAN
  • H0YB00_HUMAN
  • I3L3K2_HUMAN
genes like me logo Genes that share paralogs with XYLT2: view

Variants for XYLT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for XYLT2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1030800 Uncertain Significance: Spondyloocular syndrome, autosomal recessive 50,354,528(+) G/A
NM_022167.4(XYLT2):c.749G>A (p.Arg250His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
863214 Pathogenic: not provided 50,356,220(+) TC/T
NM_022167.4(XYLT2):c.1446del (p.Asn483fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
974777 Likely Pathogenic: Spondyloocular syndrome, autosomal recessive 50,356,578(+) TC/T
NM_022167.4(XYLT2):c.1552del (p.Leu518fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
rs1234412932 Likely Benign: not provided 50,355,994(+) C/T
NM_022167.4(XYLT2):c.1302C>T (p.Ala434=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs1287389111 Likely Benign: not provided 50,355,590(+) G/T
NM_022167.4(XYLT2):c.1088+9G>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for XYLT2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
XYLT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XYLT2
Leiden Open Variation Database (LOVD)
XYLT2

SNP Genotyping and Copy Number Assays for research

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

Disorders for XYLT2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for XYLT2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
spondyloocular syndrome
  • sos
pseudoxanthoma elasticum
  • pxe
angioid streaks
transvestism
  • cross dresser
gastrojejunal ulcer
  • acute gastrojejunal ulcer with hemorrhage
- 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 variants 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 d'orange, 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}.

Additional Disease Information for XYLT2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. (PMID: 26027496) Munns CF … Hinsdale ME (American journal of human genetics 2015) 3 4 72
  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 40
  4. Xylosyltransferase gene variants and their role in essential hypertension. (PMID: 19197251) Pönighaus C … Götting C (American journal of hypertension 2009) 3 22 40
  5. 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 40

Products for XYLT2 Gene

Sources for XYLT2 Gene