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Aliases & Descriptions for XYLT2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 2.4.2.26 3 | | XT-II 1, 2, 3 | | XT2 2, 3, 5 | | XylT-II 3 | | xylT-II 2 |
| | | Descriptions |
|---|
| Peptide O-xylosyltransferase 1 2, 3 | UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase 2 | | xylosyltransferase II 2, 3 |
|
| | Search outside databases for aliases for XYLT2 genePrevious GC identifers: GC17P048136 GC17P050905 GC17P048765 GC17P048899 GC17P048900 |
Summaries for XYLT2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for XYLT2: 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. [provided by RefSeq] UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5Function: 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 demonstratedGene Wiki entry for XYLT2 |
Genomic Location for XYLT2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the XYLT2 gene 
Entrez Gene cytogenetic band: 17q21.3-q22 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 GC17P045778:
(about GC identifiers)
Start:
|
45,778,392 bp from pter |
End:
|
45,793,511 bp from pter |
Size:
|
15,120 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000017.9 NT_010783.14
| Proteins for XYLT2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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). Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
Secondary accessions: Q6UY41 Q86V00Alternative splicing: 2 isoforms: Q9H1B5-1 Q9H1B5-2 Post-translational modifications:
Contains disulfide bonds (By similarity)1
REFSEQ proteins: NP_071450.2
ENSEMBL proteins: ENSP00000017003 ENSP00000365733
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7
): About this table
Antibodies for XYLT2: Assays for XYLT2: | Protein
Domains/ Families for XYLT2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9H1B5
ProtoNet protein and cluster: Q9H1B5 UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5Similarity: Belongs to the glycosyltransferase 14 family. XylT subfamily | Gene Function for XYLT2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022167
Applied Biosystems Silencer® siRNAs for XYLT2
Sigma-Aldrich siRNA for XYLT2  Sigma-Aldrich shRNA for XYLT2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_022167                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_022167                                  untagged cDNA clone in CMV expression vector: NM_022167 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_022167
UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5Function: 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 demonstratedCatalytic activity: Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptor protein substrateEnzyme Number (IUBMB): EC 2.4.2.26 3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Xylt2):
3 Gene Ontology (GO) molecular function terms (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 | Pathways & Interactions for XYLT2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for XYLT2 (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: XYLT2_HUMAN, Q9H1B5Pathway: Glycan metabolism; chondroitin sulfate biosynthesisPathway: Glycan metabolism; heparan sulfate biosynthesis 5 Interacting proteins for XYLT2 (ENSP000000170033) via UniProtKB, MINT, and/or STRINGAbout this table
1 Gene Ontology (GO) biological process term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006024 | glycosaminoglycan biosynthetic process |
NAS | 11099377 | About this table
|
Drugs & Compounds for XYLT2(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
|
Browse Tocris compounds for XYLT2 6 Novoseek chemical compound relationships for XYLT2 gene
About this table
|
Transcripts for XYLT2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
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 Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022167
Sigma-Aldrich siRNA for XYLT2  Sigma-Aldrich shRNA for XYLT2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_022167 REFSEQ mRNAs for XYLT2 gene: NM_022167.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_022167               OriGene GFP tagged cDNA clone in CMV expression vector: NM_022167                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_022167                                  untagged cDNA clone in CMV expression vector: NM_022167  Additional cDNA 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.102836162 DT.102836163 24/130 AceView cDNA sequences (see all 130
):BM461889 AA973869 BQ676498 CD515125 BQ877897 AI184929 AI967940 BQ681038 AI951943 BQ681871 BE550491 AI828310 BQ684294 AI874337 AI917812 BE673073 AY358090 AI801383 BF062232 AW593999 AI631553 AW593411 AA306503 BE503675
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
2 Ensembl transcripts including schematic representations: ENST00000017003
ENST00000376550
|
Expression for XYLT2
(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 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| XYLT2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for XYLT2
1 / 2 / 3 4 probe-sets matching XYLT2 gene Data from
(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 |
Orthologs for XYLT2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
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 | Paralogs for XYLT2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for XYLT2 gene
- XYLT12
|
SNPs/Variants for XYLT2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for XYLT2 (up to first 250kb)
|
Disorders & Mutations for XYLT2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 608125 disorders: 264800 2 Novoseek disease relationships for XYLT2 gene
About this table
Human Gene Mutation Database: XYLT2 Genetic Association Database: XYLT2 Human Genome Epidemiology Navigator: XYLT2 (5 documents)
|
Medical News for XYLT2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for XYLT2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/27 PubMed articles for XYLT2 gene (see all 27
):- 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, 4 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, 3, 6 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)3, 4 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)3, 4 Clark H.F....Gray A. (2003)
- Heterologous expression and biochemical characterization of soluble human xylosyltransferase II. (PubMed id 18023272)1, 3 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, 3 Schon S....Gotting C. (2006)
- Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes. (PubMed id 18789912)1, 3 Hendig D....Gotting C. (2008)
- Xylosyltransferase gene variants and their role in essential hypertension. (PubMed id 19197251)1, 3 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, 3 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, 3 Ambrosius M....Gotting C. (2009)
|
Search for XYLT2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing XYLT2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing XYLT2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing XYLT2(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
| --
| Services for XYLT2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for XYLT2:

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