Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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64132 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Xylosyltransferase 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
XYLT2 |
SynonymsGene synonyms aliases
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PXYLT2, SOS, XT-II, XT2, xylT-II |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17q21.33 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 glycosa |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs6504649 |
C>G,T |
Risk-factor, benign |
Coding sequence variant, non coding transcript variant, missense variant |
rs199705453 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
rs779864368 |
C>-,CC |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs797044806 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs797044807 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1423415130 |
G>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q9H1B5 |
Protein name |
Xylosyltransferase 2 (EC 2.4.2.26) (Peptide O-xylosyltransferase 1) (Xylosyltransferase II) (XT-II) (XylT-II) |
Protein function |
Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. {ECO:0000269|PubMed:17189 |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02485 |
Branch |
234 → 489 |
Core-2/I-Branching enzyme |
Family |
PF12529 |
Xylo_C |
519 → 699 |
Xylosyltransferase C terminal |
Family |
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Sequence |
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Sequence length |
865 |
Interactions |
View interactions |