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XYLT2 Gene

protein-coding   GIFtS: 63
GCID: GC17P048423

Xylosyltransferase II

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Xylosyltransferase II1 2 3     PXYLT22
XT22 3 5     UDP-D-Xylose:Proteoglycan Core Protein Beta-D-Xylosyltransferase2
Protein Xylosyltransferase 21 2     xylT-II2
Peptide O-Xylosyltransferase 12 3     Xylosyltransferase 22
XT-II2 3     XylT-II3
EC 2.4.2.263 8     

External Ids:    HGNC: 155171   Entrez Gene: 641322   Ensembl: ENSG000000155327   OMIM: 6081255   UniProtKB: Q9H1B53   

Export aliases for XYLT2 gene to outside databases

Previous GC identifers: GC17P048136 GC17P050905 GC17P048765 GC17P048899 GC17P048900 GC17P045778 GC17P043791


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 II) is a protein-coding gene. Diseases associated with XYLT2 include scleroderma, and eastern equine encephalitis. GO annotations related to this gene include protein xylosyltransferase activity and acetylglucosaminyltransferase activity. An important paralog of this gene is GCNT1.

UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the XYLT2 gene promoter:
         ISGF-3   AML1a   GATA-2   CREB   RORalpha1   E2F   E2F-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXYLT2 promoter sequence
   Search Chromatin IP Primers for XYLT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XYLT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.33   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q21.33

XYLT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XYLT2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P048423:  view genomic region     (about GC identifiers)

Start:
48,423,393 bp from pter      End:
48,440,499 bp from pter
Size:
17,107 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5 (See protein sequence)
Recommended Name: Xylosyltransferase 2  
Size: 865 amino acids; 96767 Da
Cofactor: Divalent cations (By similarity)
Subunit: Monomer (By similarity)
Secondary accessions: Q6UY41 Q86V00
Alternative splicing: 2 isoforms:  Q9H1B5-1   Q9H1B5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for XYLT2: NX_Q9H1B5

Explore proteomics data for XYLT2 at MOPED

Post-translational modifications: 

  • Contains disulfide bonds (By similarity)1
  • Glycosylation2 at Ser61, Thr64, Ser67, Ser87, Asn122, Asn327, Thr571, Asn683
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for XYLT2 (Q9H1B5) (see all 28)
     AYTAFAR  FFARKFE  VDGGSDW  YMEQSFQ 


    See XYLT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071450.2  
    ENSEMBL proteins: 
     ENSP00000017003   ENSP00000425511   ENSP00000426501   ENSP00000365733   ENSP00000428350  
     ENSP00000460517  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR003406 Glyco_trans_14
     IPR024448 XylT

    Graphical View of Domain Structure for InterPro Entry Q9H1B5

    ProtoNet protein and cluster: Q9H1B5

    UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5
    Similarity: Belongs to the glycosyltransferase 14 family. XylT subfamily


    XYLT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XYLT2_HUMAN, Q9H1B5
    Function: 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
    Catalytic activity: Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an
    acceptor protein substrate

         Enzyme Number (IUBMB): EC 2.4.2.261 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008375acetylglucosaminyltransferase activity IEA--
    GO:0030158protein xylosyltransferase activity NAS11099377
         
    XYLT2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for XYLT2:
     Decreased nuclei size in G2M 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Xylt2):
     homeostasis/metabolism  liver/biliary system  renal/urinary system 

    XYLT2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Xylt2tm1Meh for XYLT2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XYLT2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XYLT2

    miRNA
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    miRTarBase miRNAs that target XYLT2:
    hsa-mir-18a-5p (MIRT031354), hsa-let-7b-5p (MIRT052196), hsa-mir-1226-3p (MIRT036433), hsa-mir-93-5p (MIRT048867), hsa-mir-20a-5p (MIRT050545), hsa-mir-19b-3p (MIRT031129), hsa-mir-92a-3p (MIRT049751), hsa-mir-615-3p (MIRT039948)

    Block miRNA regulation of human, mouse, rat XYLT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate XYLT2 (see all 21):
    hsa-miR-448 hsa-miR-185* hsa-miR-331-3p hsa-miR-25 hsa-miR-4267 hsa-miR-205* hsa-miR-3182 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidXYLT2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat XYLT2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XYLT2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    XYLT2_HUMAN, Q9H1B5: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity). Golgi
    apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    cytosol1
    extracellular1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005575cellular_component ND--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    XYLT2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for XYLT2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis
    glycoaminoglycan-protein linkage region biosynthesis0.00
    3Metabolism
    Metabolic pathways0.38
    4MPS VI - Maroteaux-Lamy syndrome
    chondroitin sulfate biosynthesis0.00
    5Chondroitin sulfate/dermatan sulfate metabolism
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for XYLT2
        glycoaminoglycan-protein linkage region biosynthesis
    heparan sulfate biosynthesis
    chondroitin sulfate biosynthesis
    dermatan sulfate biosynthesis


    3 Kegg Pathways  (Kegg details for XYLT2):
        Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    Metabolic pathways

    UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5
    Pathway: Glycan metabolism; chondroitin sulfate biosynthesis
    Pathway: Glycan metabolism; heparan sulfate biosynthesis


    XYLT2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for XYLT2
    Interactions:

        Search GeneGlobe Interaction Network for XYLT2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for XYLT2 (ENSP000000170034) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B4GALT7ENSP000000294104STRING: ENSP00000029410
    ENAMENSP000003793834STRING: ENSP00000379383
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006024glycosaminoglycan biosynthetic process NAS11099377
    GO:0015012heparan sulfate proteoglycan biosynthetic process IEA--
    GO:0030206chondroitin sulfate biosynthetic process IEA--

    XYLT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for XYLT2

    2 HMDB Compounds for XYLT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    DermatanChondroitin sulfate B (see all 13)24967-94-0--
    UDP-D-XyloseUDP-D-xylose (see all 7)3616-06-6--

    7 Novoseek inferred chemical compound relationships for XYLT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycosaminoglycan 78.6 7 18023272 (1), 17517600 (1), 19944077 (1), 17635914 (1)
    xylose 75.5 3 17189265 (1), 18789912 (1)
    tetrasaccharide 62.7 1 17189265 (1)
    chondroitin 60.4 2 17189266 (2)
    heparan sulfate 59.5 5 17189265 (2), 17189266 (2)
    serine 45.8 2 18789912 (1)
    chondroitin sulfate 45.7 4 17189265 (3)



    XYLT2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for XYLT2 gene: 
    NM_022167.3  

    Unigene Cluster for XYLT2:

    Xylosyltransferase II
    Hs.463416  [show with all ESTs]
    Unigene Representative Sequence: AJ277442
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000017003(uc002iqo.3 uc010dbo.3) ENST00000509778 ENST00000507602
    ENST00000376550 ENST00000511654 ENST00000574840 ENST00000571021
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    Selected qRT-PCR Assays for microRNAs that regulate XYLT2 (see all 21):
    hsa-miR-448 hsa-miR-185* hsa-miR-331-3p hsa-miR-25 hsa-miR-4267 hsa-miR-205* hsa-miR-3182 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidXYLT2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat XYLT2
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    Additional mRNA sequence: 

    AJ277442.1 AK299999.1 AL833210.1 AY358090.1 BC017084.2 BC036069.1 BC052262.1 

    6 DOTS entries:

    DT.456072  DT.102836161  DT.91729963  DT.95200429  DT.102836163  DT.102836162 

    Selected AceView cDNA sequences (see all 130):

    AW593411 AI828310 AI184929 AI951943 BQ681871 AA306503 BE503675 BQ676498 
    AI631553 BE673073 BM461889 BQ681038 AY358090 AA973869 BQ877897 BE550491 
    CD515125 AI874337 AI917812 AI967940 BQ684294 AI801383 BF062232 AW593999 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for XYLT2    About this scheme

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


    ECgene alternative splicing isoforms for XYLT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    XYLT2 expression in normal human tissues (normalized intensities)      XYLT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAGCGTGG
    XYLT2 Expression
    About this image


    XYLT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Thyroid (Endocrine System)
    XYLT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XYLT2 Protein Expression

    Genevestigator expression for XYLT2

    SOURCE GeneReport for Unigene cluster: Hs.463416

    UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5
    Tissue specificity: Widely expressed. Expressed at higher level in kidney and pancreas

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for XYLT2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xylt21 , 5 xylosyltransferase II1, 5 89.29(n)1
    93.53(a)1
      11 (58.90 cM)5
    2171191  NM_145828.31  NP_665827.21 
     946638515 
    chicken
    (Gallus gallus)
    Aves XYLT21 xylosyltransferase II 77.12(n)
    78.55(a)
      414780  NM_001001785.1  NP_001001785.1 
    lizard
    (Anolis carolinensis)
    Reptilia XYLT26
    xylosyltransferase II
    76(a)
    1 ↔ 1
    2(116114407-116166260)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.172262 Transcribed sequence with weak similarity to protein more 78.91(n)    142002294 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1945621 zgc:194562 64.45(n)
    64.34(a)
      563446  NM_001130778.1  NP_001124250.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta oxt3 chondroitin sulfate biosynthesis
    beta-1,3-galactosyl-O-glycosyl-glycoprotein
    more
    42(a)   62D4   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y50D4C.43   -- 39(a)   V(951435-958868)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for XYLT2 gene
    GCNT12  GCNT22  GCNT42  GCNT72  GCNT62  GCNT32  XYLT12  
    1 SIMAP similar gene for XYLT2 using alignment to 5 protein entries:     XYLT2_HUMAN (see all proteins):
    XYLT1

    XYLT2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for XYLT2 (see all 528)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs65046491,2,,4
    C,F,A,Hpathogenic148437456(+) GCACAC/GACAGC 2 T R mis1 ese323Minor allele frequency- G:0.31EA NA NS WA CSA EU 6379
    rs1925169391,2
    --48421416(+) GGTCAC/GGAGAT 1 -- us2k10--------
    rs578829571,2
    C--48421471(+) AAAAA-/ATTAGC 1 -- us2k10--------
    rs110799111,2
    C,A,H--48421567(+) GGGAGT/GCAGAG 1 -- us2k12Minor allele frequency- G:0.25NA 4
    rs1136325711,2
    C,F--48421624(+) AGAGCC/AGACTC 1 -- us2k11Minor allele frequency- A:0.00WA 2
    rs118685931,2
    C,H--48421634(+) CCGTCC/TCAAAA 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs2018937601,2
    --48421634(+) CCGTC-/TCAAAA 1 -- us2k10--------
    rs110799121,2
    C,A,H--48421635(+) CGTCTT/CAAAAA 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1118087561,2
    C--48421656(+) AAAAAA/GAGAGA 1 -- us2k11Minor allele frequency- G:0.00WA 2
    rs1874262171,2
    --48421701(+) AATGTC/TAATGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for XYLT2 (48423393 - 48440499 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for XYLT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4968CNV Deletion18987735
    esv2716032CNV Deletion23290073
    esv1694921CNV Deletion17803354
    esv2130764CNV Deletion18987734
    nsv833476CNV Loss17160897
    esv7737CNV Loss19470904
    nsv519530CNV Loss19592680
    nsv512494CNV Loss21212237
    nsv833475CNV Loss17160897
    nsv112280CNV Loss16902084

    Human Gene Mutation Database (HGMD): XYLT2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing XYLT2
    DNA2.0 Custom Variant and Variant Library Synthesis for XYLT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608125   
    OMIM disorders: 264800  
    16 diseases for XYLT2:    About MalaCards
    scleroderma    eastern equine encephalitis    pseudoxanthoma elasticum, modifier of severity of    pseudoxanthoma elasticum
    mucopolysaccharidosis iii    mucopolysaccharidosis    diabetic nephropathy    essential hypertension
    choriocarcinoma    osteoarthritis    encephalitis    type 1 diabetes
    hypertension    infertility    cerebritis    thyroiditis

    2 diseases from the University of Copenhagen DISEASES database for XYLT2:
    Eastern equine encephalitis     Pseudoxanthoma elasticum

    XYLT2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for XYLT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetic nephropathies 45.4 5 17003309 (2), 18789912 (1), 16164625 (1)
    renal disease 21.7 4 18789912 (1), 16164625 (1), 17517600 (1)

    Genetic Association Database (GAD): XYLT2
    Human Genome Epidemiology (HuGE) Navigator: XYLT2 (5 documents)

    Export disorders for XYLT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for XYLT2 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with XYLT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of human UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase and its first isoform XT-II. (PubMed id 11099377)1, 2, 3, 9 Goetting C.... Kleesiek K. (J. Mol. Biol. 2000)
    2. Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes. (PubMed id 18789912)1, 4, 9 Hendig D....GAPtting C. ( international journal of clinical chemistry 2008)
    3. Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy. (PubMed id 16164625)1, 4, 9 SchAPn S....GAPtting C. (Kidney Int. 2005)
    4. Xylosyltransferase gene variants and their role in essential hypertension. (PubMed id 19197251)1, 4, 9 PAPnighaus C....GAPtting C. (Am. J. Hypertens. 2009)
    5. The xylosyltransferase I gene polymorphism c.343G&gt;T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes. (PubMed id 17003309)1, 4, 9 SchAPn S....GAPtting C. (Diabetes Care 2006)
    6. The xylosyltransferase Iota gene polymorphism c.343G&gt;T (p.A115S) is associated with decreased serum glycosaminoglycan levels. (PubMed id 19014925)1, 4, 9 Ambrosius M....GAPtting C. (Clin. Biochem. 2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    9. Heterologous expression and biochemical characterization of soluble human xylosyltransferase II. (PubMed id 18023272)1, 9 Casanova J.C....GAPtting C. (Biochem. Biophys. Res. Commun. 2008)
    10. Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II. (PubMed id 16569644)1, 9 SchAPn S....GAPtting C. (J. Biol. Chem. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64132 HGNC: 15517 AceView: XYLT2 Ensembl:ENSG00000015532 euGenes: HUgn64132
    ECgene: XYLT2 Kegg: 64132 H-InvDB: XYLT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for XYLT2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XYLT2 Genetics and Cytogenetics in Oncology and Haematology
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=XYLT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for XYLT2 gene:
    Search GeneIP for patents involving XYLT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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