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FLASH GENE
Symbol XYLT2 contributors: mct - updated : 01-07-2015
HGNC name xylosyltransferase II
HGNC id 15517
Corresponding disease
COOD cerebral, osteoporosis, ocular involvement with or without deafness
Location 17q21.33      Physical location : 48.423.392 - 48.438.511
Synonym name UDP-D-xylose proteoglycan core XT2 protein beta-D-xylosyltransferase
Synonym symbol(s) XT-2, XT2, PXYLT2, XT-II, xylT-II
EC.number 2.4.2.26
DNA
TYPE functioning gene
STRUCTURE 15.15 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   transcription factor
text structure
  • several binding sites for members of the Sp1 family of transcription factors were identified in promoter as being necessary for transcriptional regulation of the XYLT2 gene
  • MAPPING cloned Y linked N status provisional
    Physical map
    PHB 17q21.3 prohibitin LOC388400 17 similar to Eukaryotic translation initiation factor 4E (eIF4E) (eIF-4E) (mRNA cap-binding protein) (eIF-4F 25 kDa subunit) NGFR 17q21.31 nerve growth factor receptor (TNFR superfamily, member 16) NXPH3 17q21.31 neurexophilin 3 SPOP 17q22 speckle-type POZ protein SLC35B1 17q21.3-q22 solute carrier family 35, member B1 LOC81558 17q21.33 C/EBP-induced protein MYST2 17q21.32 MYST histone acetyltransferase 2 TAC4 17 tachykinin 4 (hemokinin) LOC124865 17q21.33 similar to ribosomal protein P0-like protein; 60S acidic ribosomal protein PO; ribosomal protein, large, P0-like DLX4 17q21-q22 distal-less homeobox 4 DLX3 17q21.3-q22 distal-less homeo box 3 ITGA3 17q22-q23 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) PDK2 17q21.3 pyruvate dehydrogenase kinase, isoenzyme 2 LOC201191 17q21.33 hypothetical protein LOC201191 PPP1R9B 17q21-q22 protein phosphatase 1, regulatory subunit 9B, spinophilin SGCA 17q21 sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) HILS1 17q21.33 spermatid-specific linker histone H1-like protein COL1A1 17q21.31-q22.15 collagen, type I, alpha 1 FLJ33318 17q21.33 hypothetical protein FLJ33318 XYLT2 17q21.3-17q22 xylosyltransferase II MRPL27 17q21.3-q22 mitochondrial ribosomal protein L27 FLJ31364 PRO1855 17q21.33 hypothetical protein PRO1855 FLJ20920 17q21.33 hypothetical protein FLJ20920 MRPS21P9 17q21 mitochondrial ribosomal protein S21 pseudogene 9 CHAD 17q21.33 chondroadherin FLJ11164 17q21.33 hypothetical protein FLJ11164 DKFZp434N1415 17q21.33 Mycbp-associated protein EPN3 17q24.1 epsin 3 FLJ21347 17q21.33 hypothetical protein FLJ21347 LOC253962 17q21.33 hypothetical protein LOC253962 CACNA1G 17q22 calcium channel, voltage-dependent, alpha 1G subunit ABCC3 17q21.3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 MGC15396 17q21.33 hypothetical protein MGC15396 LUC7A 17q21 cisplatin resistance-associated overexpressed protein OA48-18 17q21.33 acid-inducible phosphoprotein FLJ20694 17q21.33 hypothetical protein FLJ20694 LOC390801 17 similar to S100 calcium-binding protein A10; S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)); annexin II ligand, calpactin I, light polypeptide WFIKKNRP 17q21.33 WFIKKN-related protein LOC390802 17 similar to ribosomal protein L5; 60S ribosomal protein L5 TOB1 17q21 transducer of ERBB2, 1 SPAG9 17q21.31 sperm associated antigen 9
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3601 - 865 - 2000 11099377
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary   
     parathyroid    
    Respiratorylung    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to rattus Xylt2
    intraspecies homolog to XYLT1
    Homologene
    FAMILY glycosyltransferase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • initiating biosynthesis of chondroitin and heparan sulfate, heparin and dermatan sulfate
  • 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
  • is capable of initiating the biosynthesis of glycosaminoglycan chains in proteoglycans
  • XYLT1, XYLT2 are xylosyltransferases with similar but not identical properties, pointing to their potential role in modulating the cellular proteoglycan pool
  • very likely assumes a crucial regulatory role in the biosynthesis of proteoglycans (PGs)
  • XYLT1, XYLT2 catalyze the rate-limiting step in proteoglycan biosynthesis
  • cells of the lens, retina, heart muscle, inner ear, and bone are dependent on XYLT2 for proteoglycan assembly
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    chondroitin sulfate and heparan sulfate synthesis, first step
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    divalent cations
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COOD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in scleroderma
    constitutional       loss of function
    results in a substantial reduction in proteoglycans and a phenotype characteristic of many aspects of polycystic liver and kidney disease, including biliary epithelial cysts, renal tubule dilation, organ fibrosis, and basement membrane abnormalities
    Susceptibility
  • to severe pseudoxanthoma elasticum (PXE)
  • to nephropathy in diabetic patients
  • Variant & Polymorphism SNP , other
  • increasing frequency in patients under 30 years of age at diagnosis of PXE, and with severe disease course
  • SNP protecting against nephropathy in diabetic patients
  • Candidate gene
    Marker
  • serum XYLT2 levels may be an informative biomarker in patients who suffer from diseases affecting platelet and/or liver homeostasis
  • Therapy target
    ANIMAL & CELL MODELS
    Xylt2
    /
    mice develop normally, but develop liver biliary epithelial cysts, renal tubule dilation/cysts, and decreased renal function