XYLT2 gene homepage

General information
Gene symbol XYLT2
Gene name xylosyltransferase II
Chromosome 17
Chromosomal band q21.33
Imprinted Unknown
Genomic reference NG_012175.1
Transcript reference NM_022167.2
Exon/intron information NM_022167.2 exon/intron table
Associated with diseases PXE, SOS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 20
Unique public DNA variants reported 19
Individuals with public variants 221
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated December 25, 2018
Version XYLT2:181225

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_022167.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/XYLT2
HGNC 15517
Entrez Gene 64132
PubMed articles XYLT2
OMIM - Gene 608125
OMIM - Diseases PXE (pseudoxanthoma elasticum (PXE))
SOS (Spondyloocular syndrome (SOS))
GeneCards XYLT2
GeneTests XYLT2

Active transcripts




NCBI ID     

NCBI Protein ID     

00022950 17 xylosyltransferase II NM_022167.2 NP_071450.2 20

Copyright & disclaimer
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