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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

XYLT2 Gene

protein-coding GIFtS: 60
GCID: GC17P048423

xylosyltransferase II

Explore 10 diseases affiliated with
XYLT2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Xylosyltransferase II¹ ² ³		Protein Xylosyltransferase 2²
XT-II¹ ² ³		UDP-D-Xylose:Proteoglycan Core Protein Beta-D-Xylosyltransferase²
XT2² ³ ⁵		XylT-II³
PXYLT2¹ ²		Xylosyltransferase 2²
Peptide O-Xylosyltransferase 1² 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
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 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, Jul 2008)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences 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 plasmid: XYLT2 promoter sequence

Search SABiosciences Chromatin IP Primers for XYLT2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 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

Post-translational modifications:

Contains disulfide bonds (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H1B5

4/28 DME Specific Peptides for XYLT2 (Q9H1B5) (see all 28)

AYTAFAR

FFARKFE

VDGGSDW

YMEQSFQ

XYLT2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_071450.2

ENSEMBL proteins:

ENSP00000017003 ENSP00000425511 ENSP00000426501 ENSP00000365733 ENSP00000428350

ENSP00000460517

Human Recombinant Protein Products for XYLT2:

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	Uscn Proteins for XYLT2

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IEA	--
GO:0005575	cellular_component	ND	--
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0016020	membrane	--	--
GO:0016021	integral to membrane	IEA	--

XYLT2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for XYLT2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

XYLT2 for domains About GeneDecksing

2 InterPro domains/families:

IPR024448 XylT

IPR003406 Glyco_trans_14

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008375	acetylglucosaminyltransferase activity	IEA	--
GO:0030158	protein xylosyltransferase activity	NAS	11099377

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:
Mouse knock-out Xylt2^tm1Meh for XYLT2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for XYLT2

miRNA Products:		OriGene 3'-UTR Clone: XYLT2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XYLT2
		8/21 QIAGEN miScript miRNA 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 plasmid: XYLT2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for XYLT2 (see all 7) OriGene shRNA RFP: XYLT2 OriGene siRNA: XYLT2
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		Sirion Biotech Custom design and validation of potent shRNA sequences against XYLT2

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XYLT2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XYLT2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XYLT2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

dermatan sulfate biosynthesis

	dermatan sulfate biosynthesis	1.00			chondroitin sulfate biosynthesis	0.64
	Glycosaminoglycan biosynthesis - chondroitin sulfate	0.73			glycoaminoglycan-protein linkage region biosynthesis	0.38

heparan sulfate biosynthesis

heparan sulfate biosynthesis

1.00

Glycosaminoglycan biosynthesis - heparan sulfate

0.83

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

4 BioSystems Pathways for XYLT2

	glycoaminoglycan-protein linkage region biosynthesis
	heparan sulfate biosynthesis
	dermatan sulfate biosynthesis
	chondroitin sulfate biosynthesis

3 Kegg Pathways (Kegg details for XYLT2):

	Glycosaminoglycan biosynthesis - chondroitin sulfate
	Glycosaminoglycan biosynthesis - heparan sulfate
	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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks 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

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
B4GALT7	ENSP00000029410⁴	STRING: ENSP00000029410
ENAM	ENSP00000379383⁴	STRING: ENSP00000379383

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006024	glycosaminoglycan biosynthetic process	NAS	11099377
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	--
GO:0030206	chondroitin sulfate biosynthetic process	IEA	--

XYLT2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

XYLT2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for XYLT2

2 HMDB Compounds for XYLT2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Dermatan	Chondroitin sulfate B (see all 13)	24967-94-0	--
UDP-D-Xylose	UDP-D-xylose (see all 7)	3616-06-6	--

7 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about XYLT2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for XYLT2 gene:

NM_022167.2

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

miRNA Products:		OriGene 3'-UTR Clone: XYLT2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XYLT2
		8/21 QIAGEN miScript miRNA 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 plasmid: XYLT2 3' UTR sequence

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		Sirion Biotech Custom design and validation of potent shRNA sequences against XYLT2

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		GenScript: all cDNA clones in your preferred vector: XYLT2 (NM_022167)
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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.102836163 DT.102836162

24/130 AceView cDNA sequences (see all 130):

BQ877897 BE550491 CD515125 AI951943 BM461889 BQ681038 BE673073 AI631553

BQ676498 AA306503 BE503675 BQ681871 AI184929 AI828310 AW593411 AA973869

AI967940 AY358090 AI801383 BQ684294 AI917812 AI874337 AW593999 BF062232

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

XYLT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCAGCGTGG

About this image

XYLT2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See XYLT2 Protein Expression from SPIRE MOPED and PaxDB
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

SABiosciences Custom PCR Arrays for XYLT2

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XYLT2

(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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for XYLT2 gene from 8/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	XYLT2¹	xylosyltransferase II	77.27(n) 78.67(a)		414780 NM_001001785.1 NP_001001785.1
lizard (Anolis carolinensis)	Reptilia	XYLT2⁶	--	76(a)	1 ↔ 1	2(116115076-116161342)
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(n) 63.65(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) --
thale cress (Arabidopsis thaliana)	eudicotyledons	UNE7⁶ AT1G71070⁶ (see all 11)	Core-2/I-branching beta-1,6-N-acetylglucosaminyltr... Core-2/I-branching beta-1,6-N-acetylglucosaminyltr... (see all 11)	24(a) 23(a) (see all 11)	many ↔ many many ↔ many (see all 11)	3(911238-913677) 1(26807188-26809504)
rice (Oryza sativa)	Liliopsida	-- -- (see all 12)	xylosyltransferase, putative, expressed (see all 12)	22(a) 22(a) (see all 12)	many ↔ many many ↔ many (see all 12)	6(23842215-23846177) 4(13483925-13488779)

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)
About This Section

Paralogs for XYLT2 gene

GCNT1² GCNT2² GCNT4² GCNT6² GCNT7² 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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs192516939^1,2		--	48421416(+)	`GGTCAC/GGAGAT`	1	--	us2k¹		0	--	--	--	--
rs57882957^1,2	C	--	48421471(+)	`AAAAA-/ATTAGC`	1	--	us2k¹		0	--	--	--	--
rs11079911^1,2	C,A,H	--	48421567(+)	`GGGAGT/GCAGAG`	1	--	us2k¹		2		NA	4
rs113632571^1,2	C	--	48421624(+)	`AGAGCC/AGACTC`	1	--	us2k¹		1		WA	2
rs11868593^1,2	C,H	--	48421634(+)	`ccgtcC/Tcaaaa`	1	--	us2k¹		1		NA	2
rs201893760^1,2		--	48421634(+)	`CCGTC-/TCAAAA`	1	--	us2k¹		0	--	--	--	--
rs11079912^1,2	C,A,H	--	48421635(+)	`cgtctT/Caaaaa`	1	--	us2k¹		1		NA	2
rs111808756^1,2	C	--	48421656(+)	`AAAAAA/GAGAGA`	1	--	us2k¹		1		WA	2
rs187426217^1,2		--	48421701(+)	`AATGTC/TAATGA`	1	--	us2k¹		0	--	--	--	--
rs192867580^1,2		--	48421841(+)	`TGGGGA/GGAATT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for XYLT2 (48423393 - 48440499 bp)
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
Human Gene Mutation Database (HGMD): XYLT2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

XYLT2 for disorders           About GeneDecksing

OMIM gene information: 608125
OMIM disorders: 264800
10 diseases for XYLT2:    About MalaCards

pseudoxanthoma elasticum, modifier of severity of mucopolysaccharidosis iii scleroderma mucopolysaccharidosis

essential hypertension nephropathy choriocarcinoma hypertension

osteoarthritis infertility

1 disease from the University of Copenhagen DISEASES database for XYLT2:

Pseudoxanthoma elasticum

2 Novoseek 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)
About This Section

PubMed articles for XYLT2 gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with XYLT2)

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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. (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, 9} 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, 9} 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, 9} Schon S....Gotting C. (2006)
Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes. (PubMed id 18789912)^{1, 9} Hendig D....Gotting C. (2008)
Xylosyltransferase gene variants and their role in essential hypertension. (PubMed id 19197251)^{1, 9} 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, 9} 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, 9} Ambrosius M....Gotting C. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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)
About This Section

Entrez Gene: 64132	HGNC: 15517	AceView: XYLT2	Ensembl:ENSG00000015532	euGenes: HUgn64132
ECgene: XYLT2	Kegg: 64132	H-InvDB: XYLT2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for XYLT2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for XYLT2	Genetics and Cytogenetics in Oncology and Haematology
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=XYLT2

Intellectual Property for XYLT2 gene
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Patent Information for XYLT2 gene:
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GeneCards and IP:
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