Aliases &
Descriptions
for XYLT2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| xylosyltransferase II1 2 3 | | protein xylosyltransferase 22 | | XT-II1 2 3 | | OTTHUMP000002211572 | | XT22 3 5 | | xylT-II2 | | PXYLT21 2 | | UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase2 | | Peptide O-xylosyltransferase 12 3 | | EC 2.4.2.263 | | xylosyltransferase 22 | | XylT-II3 |
Export aliases for XYLT2 gene to outside databasesPrevious GC identifers: GC17P048136 GC17P050905 GC17P048765 GC17P048899 GC17P048900 GC17P045778 GC17P048423 |
Summaries
for XYLT2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for XYLT2:
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family ofglycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein andinitiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparansulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is adiagnostic marker for the determination of sclerotic activity in systemic sclerosis. (provided by RefSeq)
UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5Function: Probably catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xyloseto specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate anddermatan sulfate proteoglycans in fibroblasts and chondrocytes (By similarity). Its enzyme activity has not beendemonstrated
Gene Wiki entry for XYLT2 |
Genomic Views
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 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the XYLT2 gene promoter:
POU2F1 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) POU3F2 AhR Arnt Tal-1beta ITF-2 GATA-1 PPAR-gamma1
Other transcription factors
Search SABiosciences Chromatin IP Primers for XYLT2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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: 17q21.33XYLT2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P043791: view genomic region
(about GC identifiers)
Start:
|
43,791,832 bp from pter |
End:
|
43,806,359 bp from pter |
Size:
|
14,528 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr17+ 48,423,453-48,440,499 |
RefSeq DNA sequence:- NC_000017.10 NT_010783.15
|
Proteins
for XYLT2 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
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)
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity). Golgiapparatus membrane; Single-pass type II membrane protein (By similarity)
Secondary accessions: Q6UY41 Q86V00Alternative splicing: 2 isoforms: Q9H1B5-1 Q9H1B5-2 Explore the universe of human proteins at neXtProt for XYLT2: NX_Q9H1B5
Post-translational modifications:
Contains disulfide bonds (By similarity)1
REFSEQ proteins: NP_071450.2
ENSEMBL proteins: ENSP00000017003 ENSP00000428350 ENSP00000425511 ENSP00000365733 ENSP00000426501
Human Recombinant Proteins
5/7 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 7): About this table
XYLT2 for ontologies About GeneDecksing
Antibodies for XYLT2:
Assays for XYLT2: |
Protein
Domains/
Families
for XYLT2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
XYLT2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9H1B5ProtoNet protein and cluster: Q9H1B5 UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5Similarity: Belongs to the glycosyltransferase 14 family. XylT subfamily |
Gene Function
for XYLT2 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5Function: Probably catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xyloseto specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate anddermatan sulfate proteoglycans in fibroblasts and chondrocytes (By similarity). Its enzyme activity has not beendemonstratedCatalytic activity: Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptorprotein substrateEnzyme Number (IUBMB): EC 2.4.2.26
3 Gene Ontology (GO) molecular function terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008375 | acetylglucosaminyltransferase activity |
IEA | -- | | GO:0016757 | transferase activity, transferring glycosyl groups |
IEA | -- | | GO:0030158 | protein xylosyltransferase activity |
NAS | 11099377 |
About this table
XYLT2 for ontologies About GeneDecksing
Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Xylt2):
XYLT2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for XYLT2 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
XYLT2 for pathways About GeneDecksing
1  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for XYLT2
3  Kegg Pathways (Kegg details for XYLT2):  | hsa00532 Glycosaminoglycan biosynthesis - chondroitin sulfate | | hsa00534 Glycosaminoglycan biosynthesis - heparan sulfate | | hsa01100 Metabolic pathways |
UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5Pathway: Glycan metabolism; chondroitin sulfate biosynthesisPathway: Glycan metabolism; heparan sulfate biosynthesis SABiosciences Custom Pathway-Focused PCR Arrays for XYLT2
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for XYLT2
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for XYLT2
2 Interacting proteins for XYLT2 (ENSP000000170033) via UniProtKB, MINT, and/or STRING About this table
1 Gene Ontology (GO) biological process term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006024 | glycosaminoglycan biosynthetic process |
NAS | 11099377 |
About this table
XYLT2 for ontologies About GeneDecksing
|
Drugs & Compounds
for XYLT2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
XYLT2 for compounds About GeneDecksing
 Browse Tocris compounds for XYLT2
7  Novoseek chemical compound relationships for XYLT2 gene
About this table
|
Transcripts
for XYLT2 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for XYLT2 gene: NM_022167.2 Additional cDNA sequence: AJ277442.1 AK299999.1 AL833210.1 AY358090.1 BC017084.2 BC036069.1 BC052262.1 5 DOTS entries: DT.456072 DT.102836161 DT.91729963 DT.95200429 DT.102836163 24/130 AceView cDNA sequences (see all 130): BQ676498 BQ684294 AW593999 BQ877897 AI184929 BQ681038 BM461889 AI917812 CD515125 AI874337 AI801383 AA973869 BE550491 AI951943 AA306503 AY358090 BE673073 BE503675 AW593411 BQ681871 AI828310 AI967940 AI631553 BF062232
 highest scoring ESTs for XYLT2:AA043495 AA149258 AA149273 AA338943 AA401674 AA412019 AA720916 AA973869 AI004612 AI128000 Unigene Cluster for XYLT2: Xylosyltransferase II Hs.463416 [show with all ESTs]Unigene Representative Sequence: AJ277442
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for XYLT2
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | - | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for XYLT2
5 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000017003(uc002iqo.2 uc010dbo.2) ENST00000511654 ENST00000509778
ENST00000376550 ENST00000507602
|
Expression
for XYLT2 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| XYLT2 expression in normal and diseased human tissues
1 / 2 / 3 4 probe-sets matching XYLT2 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 44675_at2, 3
|
U95-B |
1 |
0.56 |
1.00 |
1.00 |
1.00 |
AA043495 |
1.00 |
1.00 |
1.00 |
1 |
| 219401_at2, 3
|
U133-A |
1 |
0.64 |
1.00 |
-- |
-- |
NM_022167 |
0.60 |
1.00 |
0.82 |
1 |
| 219401_at2
|
U133Plus2 |
1 |
0.64 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 1570528_at2
|
U133Plus2 |
1 |
0.36 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
XYLT2 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: AGCAGCGTGG
SOURCE GeneReport for Unigene cluster: Hs.463416
UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5Tissue specificity: Widely expressed. Expressed at higher level in kidney and pancreas
SABiosciences Custom PCR Arrays for XYLT2
|
Orthologs
for XYLT2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for XYLT2 gene from 5/9 species (see all 9)
About this table Species with no ortholog for XYLT2
ENSEMBL Gene Tree for XYLT2 (if available) |
Paralogs
for XYLT2 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for XYLT2 gene
- GCNT12 GCNT22 GCNT42 GCNT72 GCNT62 XYLT12 GCNT32
XYLT2 for paralogs About GeneDecksing
|
Genomic Variants
for XYLT2 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 17 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for XYLT2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for XYLT2
1 CNV: 49879
5 Indels: 61575 11887 45556 25865 43065 | | QIAGEN SeqTarget long-range PCR primers for resequencing XYLT2 |
|
Disorders & Mutations
for XYLT2 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
XYLT2 for disorders About GeneDecksing
OMIM: 608125 disorders: 264800
2 Novoseek disease relationships for XYLT2 gene
About this table
Human Gene Mutation Database (HGMD): XYLT2
Genetic Association Database (GAD): XYLT2
Human Genome Epidemiology (HuGE) Navigator: XYLT2 (5 documents)
Export disorders and mutations for XYLT2 gene to outside databases
|
Medical News
for XYLT2 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for XYLT2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/29 PubMed articles for XYLT2 gene, integrated from 7 sources (see all 29):
(articles sorted by number of sources associating them with XYLT2)- 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, 7 Goetting C.... Kleesiek K. (2000)
- 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, 7 Schon S....Gotting C. (2005)
- 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. (2004)
- 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. (2003)
- Heterologous expression and biochemical characterization of soluble human xylosyltransferase II. (PubMed id 18023272)1, 7 Casanova J.C....Gotting C. (2008)
- 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, 7 Schon S....Gotting C. (2006)
- Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes. (PubMed id 18789912)1, 7 Hendig D....Gotting C. (2008)
- Xylosyltransferase gene variants and their role in essential hypertension. (PubMed id 19197251)1, 7 PAPnighaus C....GAPtting C. (2009)
- The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes. (PubMed id 17003309)1, 7 Schon S....Gotting C. (2006)
- The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels. (PubMed id 19014925)1, 7 Ambrosius M....Gotting C. (2009)
|
External Searches for XYLT2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing XYLT2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing XYLT2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing XYLT2 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| 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
|
Products
for XYLT2 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |  |  |  | |
| |  | Search Tocris compounds for XYLT2 |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for XYLT2 |
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