The TNXB gene homepage

General information
Gene symbol TNXB
Gene name tenascin XB
Chromosome 6
Chromosomal band p21.3
Imprinted Unknown
Genomic reference NG_008337.2
Transcript reference NM_019105.6, NM_032470.3
Associated with diseases EDS, EDS-3, VUR-8, Ehlers-Danlos-like syndrome due to tenascin-X deficiency
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 586
Unique public DNA variants reported 91
Individuals with public variants 35
Hidden variants 41
Date created October 30, 2013
Date last updated September 28, 2016
Version TNXB:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:11976
Entrez Gene 7148
PubMed articles TNXB
OMIM - Gene 600985
OMIM - Diseases EDS (Ehlers-Danlos syndrome)
EDS-3 (Ehlers-Danlos syndrome, type 3 (EDS-3))
VUR-8 (reflux, vesicoureteral, type 8 (VUR-8))
Ehlers-Danlos-like syndrome due to tenascin-X deficiency
HGMD TNXB
GeneCards TNXB
GeneTests TNXB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008165 6 transcript variant XB NM_019105.6 NP_061978.6 582
00008166 6 transcript variant XB-S NM_032470.3 NP_115859.2 288


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