The TNXB gene homepage

Ehlers Danlos Syndrome Variant Database


General information
Gene symbol TNXB
Gene name tenascin XB
Chromosome 6
Chromosomal band p21.33-p21.32
Imprinted Unknown
Genomic reference NG_008337.2
Transcript reference NM_019105.6
Exon/intron information NM_019105.6 exon/intron table
Associated with diseases adrenal hyperplasia, EDS, EDSCLL, EDSHMB, VUR8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Raymond Dalgleish and Wei Kheng Teh
Total number of public variants reported 491
Unique public DNA variants reported 378
Individuals with public variants 216
Hidden variants 31
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 03, 2013
Date last updated September 17, 2021
Version TNXB:210917

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_019105.6.
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/TNXB
HGNC 11976
Entrez Gene 7148
PubMed articles TNXB
OMIM - Gene 600985
OMIM - Diseases adrenal hyperplasia (adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency)
EDSCLL (Ehlers-Danlos-like syndrome, classic-like type (EDSCLL))
EDSHMB (Ehlers-Danlos syndrome, hypermobility type (EDSHMB, EDS3))
VUR8 (reflux, vesicoureteral, type 8 (VUR8))
HGMD TNXB
GeneCards TNXB
GeneTests TNXB
Orphanet TNXB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021614 6 transcript variant XB NM_019105.6 NP_061978.6 491


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