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Aliases for XYLT2 Gene

Aliases for XYLT2 Gene

  • Xylosyltransferase II 2 3 4
  • XT2 3 4 6
  • Peptide O-Xylosyltransferase 1 3 4
  • Protein Xylosyltransferase 2 2 3
  • EC 2.4.2.26 4 63
  • XylT-II 3 4
  • XT-II 3 4
  • UDP-D-Xylose:Proteoglycan Core Protein Beta-D-Xylosyltransferase 3
  • Xylosyltransferase 2 3
  • PXYLT2 3

External Ids for XYLT2 Gene

Previous GeneCards Identifiers for XYLT2 Gene

  • GC17P048136
  • GC17P050905
  • GC17P048765
  • GC17P048899
  • GC17P048900
  • GC17P045778
  • GC17P048423
  • GC17P043791

Summaries for XYLT2 Gene

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 eastern equine encephalitis and scleroderma. Among its related pathways are Metabolism and heparan sulfate biosynthesis. GO annotations related to this gene include acetylglucosaminyltransferase activity and protein xylosyltransferase activity. An important paralog of this gene is GCNT1.

UniProtKB/Swiss-Prot for XYLT2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XYLT2 Gene

Genomics for XYLT2 Gene

Regulatory Elements for XYLT2 Gene

Genomic Location for XYLT2 Gene

Start:
50,346,032 bp from pter
End:
50,363,138 bp from pter
Size:
17,107 bases
Orientation:
Plus strand

Genomic View for XYLT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for XYLT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XYLT2 Gene

Proteins for XYLT2 Gene

  • Protein details for XYLT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1B5-XYLT2_HUMAN
    Recommended name:
    Xylosyltransferase 2
    Protein Accession:
    Q9H1B5
    Secondary Accessions:
    • Q6UY41
    • Q86V00

    Protein attributes for XYLT2 Gene

    Size:
    865 amino acids
    Molecular mass:
    96767 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for XYLT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XYLT2 Gene

Proteomics data for XYLT2 Gene at MOPED

Post-translational modifications for XYLT2 Gene

  • Contains disulfide bonds.
  • Glycosylation at Ser61, Thr64, Ser67, Ser87, Asn122, Asn327, Thr571, and Asn683
  • Modification sites at PhosphoSitePlus

Other Protein References for XYLT2 Gene

Domains for XYLT2 Gene

Protein Domains for XYLT2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for XYLT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H1B5

UniProtKB/Swiss-Prot:

XYLT2_HUMAN :
  • Q9H1B5
Family:
  • Belongs to the glycosyltransferase 14 family. XylT subfamily.
genes like me logo Genes that share domains with XYLT2: view

No data available for Gene Families for XYLT2 Gene

Function for XYLT2 Gene

Molecular function for XYLT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptor protein substrate
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for XYLT2 Gene

Gene Ontology (GO) - Molecular Function for XYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IEA --
GO:0030158 protein xylosyltransferase activity NAS 11099377
genes like me logo Genes that share ontologies with XYLT2: view

Phenotypes for XYLT2 Gene

genes like me logo Genes that share phenotypes with XYLT2: view

Animal Models for XYLT2 Gene

MGI Knock Outs for XYLT2:

No data available for Transcription Factor Targeting and HOMER Transcription for XYLT2 Gene

Localization for XYLT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XYLT2 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for XYLT2 Gene COMPARTMENTS Subcellular localization image for XYLT2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
cytosol 1
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for XYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005575 cellular_component ND --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus --
genes like me logo Genes that share ontologies with XYLT2: view

Pathways for XYLT2 Gene

genes like me logo Genes that share pathways with XYLT2: view

UniProtKB/Swiss-Prot Q9H1B5-XYLT2_HUMAN

  • Pathway: Glycan metabolism; chondroitin sulfate biosynthesis
  • Pathway: Glycan metabolism; heparan sulfate biosynthesis

Interacting Proteins for XYLT2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000017003%0d%0a9606.ENSP00000029410%0d%0a
Selected Interacting proteins: ENSP00000017003 for XYLT2 Gene via STRING

Symbol External ID(s) Details
B4GALT7

Gene Ontology (GO) - Biological Process for XYLT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process NAS 11099377
GO:0015012 heparan sulfate proteoglycan biosynthetic process IEA --
GO:0030166 proteoglycan biosynthetic process --
GO:0030206 chondroitin sulfate biosynthetic process IEA --
GO:0030210 heparin biosynthetic process IEA --
genes like me logo Genes that share ontologies with XYLT2: view

Compounds for XYLT2 Gene

(2) HMDB Compounds for XYLT2 Gene

Compound Synonyms Cas Number PubMed IDs
Dermatan
  • Chondroitin sulfate B
24967-94-0
UDP-D-Xylose
  • UDP-D-xylose
3616-06-6

(7) Novoseek inferred chemical compound relationships for XYLT2 Gene

Compound -log(P) Hits PubMed IDs
glycosaminoglycan 78.6 4
xylose 75.5 2
tetrasaccharide 62.7 1
chondroitin 60.4 2
heparan sulfate 59.5 4
genes like me logo Genes that share compounds with XYLT2: view

Transcripts for XYLT2 Gene

Unigene Clusters for XYLT2 Gene

Xylosyltransferase II:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XYLT2 Gene

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

Relevant External Links for XYLT2 Gene

GeneLoc Exon Structure for
XYLT2
ECgene alternative splicing isoforms for
XYLT2

Expression for XYLT2 Gene

mRNA expression in normal human tissues for XYLT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for XYLT2 Gene

This gene is overexpressed in Stomach (7.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for XYLT2 Gene

SOURCE GeneReport for Unigene cluster for XYLT2 Gene Hs.463416

mRNA Expression by UniProt/SwissProt for XYLT2 Gene

Q9H1B5-XYLT2_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in kidney and pancreas.
genes like me logo Genes that share expressions with XYLT2: view

Orthologs for XYLT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for XYLT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XYLT2 35
  • 99.61 (n)
  • 99.54 (a)
XYLT2 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia XYLT2 35
  • 88.19 (n)
  • 88.19 (a)
XYLT2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XYLT2 35
  • 92.45 (n)
  • 95.26 (a)
XYLT2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xylt2 35
  • 89.29 (n)
  • 93.53 (a)
Xylt2 16
Xylt2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia XYLT2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XYLT2 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xylt2 35
  • 89.54 (n)
  • 93.63 (a)
chicken
(Gallus gallus)
Aves XYLT2 35
  • 77.12 (n)
  • 78.55 (a)
XYLT2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XYLT2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17226 35
xylt2 35
  • 67.23 (n)
  • 69.68 (a)
zebrafish
(Danio rerio)
Actinopterygii XYLT2 (1 of 2) 36
  • 52 (a)
OneToMany
XYLT2 (2 of 2) 36
  • 65 (a)
OneToMany
zgc:194562 35
  • 64.45 (n)
  • 64.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta oxt 36
  • 36 (a)
OneToMany
oxt 37
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea sqv-6 36
  • 26 (a)
OneToMany
Y50D4C.4 37
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for XYLT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for XYLT2 Gene

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

Paralogs for XYLT2 Gene

Paralogs for XYLT2 Gene

Selected SIMAP similar genes for XYLT2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with XYLT2: view

Variants for XYLT2 Gene

Sequence variations from dbSNP and Humsavar for XYLT2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs739989 -- 50,353,836(-) TCCGG(A/G)GGTGG reference, synonymous-codon, nc-transcript-variant
rs739990 - 50,353,671(-) GAACC(C/T)TCGCC synonymous-codon, reference, nc-transcript-variant
rs739991 -- 50,353,603(-) ATCAC(G/T)GGGGC intron-variant
rs739992 -- 50,352,930(+) GTGGA(C/T)GCTCT intron-variant
rs886568 -- 50,355,720(-) TTTCA(C/T)CCGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for XYLT2 Gene

Variant ID Type Subtype PubMed ID
nsv833475 CNV Loss 17160897
nsv833476 CNV Loss 17160897
nsv512494 CNV Loss 21212237
esv2716032 CNV Deletion 23290073
esv1694921 CNV Deletion 17803354
esv2130764 CNV Deletion 18987734
esv4968 CNV Deletion 18987735
esv7737 CNV Loss 19470904
nsv112280 CNV Loss 16902084
nsv519530 CNV Loss 19592680

Relevant External Links for XYLT2 Gene

HapMap Linkage Disequilibrium report
XYLT2
Human Gene Mutation Database (HGMD)
XYLT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XYLT2 Gene

Disorders for XYLT2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for XYLT2 Gene including...

Search for XYLT2 Gene in MalaCards »

(1) OMIM Diseases for XYLT2 Gene (608125)

(2) University of Copenhagen DISEASES for XYLT2 Gene

(2) Novoseek inferred disease relationships for XYLT2 Gene

Disease -log(P) Hits PubMed IDs
diabetic nephropathies 45.4 4
renal disease 21.7 3

Relevant External Links for XYLT2

Genetic Association Database (GAD)
XYLT2
Human Genome Epidemiology (HuGE) Navigator
XYLT2
genes like me logo Genes that share disorders with XYLT2: view

No data available for UniProtKB/Swiss-Prot for XYLT2 Gene

Publications for XYLT2 Gene

  1. Molecular cloning and expression of human UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase and its first isoform XT-II. (PMID: 11099377) Goetting C. … Kleesiek K. (J. Mol. Biol. 2000) 2 3 4 23
  2. Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy. (PMID: 16164625) SchAPn S. … GAPtting C. (Kidney Int. 2005) 3 23 48
  3. The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes. (PMID: 17003309) SchAPn S. … GAPtting C. (Diabetes Care 2006) 3 23 48
  4. Xylosyltransferase gene variants and their role in essential hypertension. (PMID: 19197251) PAPnighaus C. … GAPtting C. (Am. J. Hypertens. 2009) 3 23 48
  5. Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes. (PMID: 18789912) Hendig D. … GAPtting C. (Clin. Chim. Acta 2008) 3 23 48

Products for XYLT2 Gene

Sources for XYLT2 Gene

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