The TBX22 gene homepage

General information
Gene symbol TBX22
Gene name T-box 22
Chromosome X
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_008998.1
Transcript reference NM_001109878.1
Exon/intron information NM_001109878.1 exon/intron table
Associated with diseases ABERS, CPX
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Philip Stanier
Total number of public variants reported 94
Unique public DNA variants reported 64
Individuals with public variants 330
Hidden variants 2
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 March 06, 2009
Date last updated February 26, 2024
Version TBX22:240226

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_001109878.1.
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/TBX22
HGNC 11600
Entrez Gene 50945
PubMed articles TBX22
OMIM - Gene 300307
OMIM - Diseases ABERS (Abruzzo Erickson syndrome (ABERS))
CPX (cleft palate, with/without ankyloglossia, X-linked (CPX))
HGMD TBX22
GeneCards TBX22
GeneTests TBX22
Orphanet TBX22


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024276 X transcript variant 1 NM_001109878.1 NP_001103348.1 94


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.