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 (1) Raymond Dalgleish
Total number of public variants reported 584
Unique public DNA variants reported 432
Individuals with public variants 223
Hidden variants 34
Download all this gene's data Download all data
Notes Change to MANE select NM_001365276.2.
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 April 16, 2023
Version TNXB:230416

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
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))
GeneCards TNXB
GeneTests TNXB
Orphanet TNXB

Active transcripts




NCBI ID     

NCBI Protein ID     

00021614 6 transcript variant XB NM_019105.6 NP_061978.6 584

Copyright & disclaimer
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