Property Summary

NCBI Gene PubMed Count 32
PubMed Score 135.94
PubTator Score 73.40

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.200 4.3e-04

Gene RIF (14)

PMID Text
25918826 we analysed two TBX22 promoter rs7055763 and rs41307258 single-nucleotide polymorphisms (SNPs) in 173 patients with NSCLP and 176 normal controls of south Indian origin using Kbioscience KASPar chemistry
25373698 These results suggest that a loss-of-function mutation in the X-linked TBX22 promoter may cause the cleft palate through disruption of TBX22-ETS-1 pathway.
22784330 TBX22 is the gene underlying Abruzzo-Erickson syndrome.
21248356 5 putative missense mutations were identified, 3 located in T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity.
20672350 Observational study of gene-disease association. (HuGE Navigator)
20572854 Observational study of gene-disease association. (HuGE Navigator)
19648124 Analysis of the TBX22 promoter region revealed seven sequence variants, two of which are associated with cleft palate; this effect is stronger in a subgroup stratified for the presence of ankyloglossia.
19648124 Observational study of gene-disease association. (HuGE Navigator)
17868388 Observational study of gene-disease association. (HuGE Navigator)
17868388 TBX22 mutations are responsible for a significant proportion of Thai non-syndromic cleft palate cases.
17846996 TBX22 is a target for the small ubiquitin-like modifier SUMO-1 and this modification is required for TBX22 repressor activity.
16247549 Observational study of gene-disease association. (HuGE Navigator)
14729838 Four novel TBX22 splice site mutations in North American and Brazilian cleft palate families.
12374769 Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia (CPX) phenotype observed in CPX patients.

AA Sequence

MALSSRARAFSVEALVGRPSKRKLQDPIQAEQPELREKKGGEEEEERRSSAAGKSEPLEKQPKTEPSTSA      1 - 70
SSGCGSDSGYGNSSESLEEKDIQMELQGSELWKRFHDIGTEMIITKAGRRMFPSVRVKVKGLDPGKQYHV     71 - 140
AIDVVPVDSKRYRYVYHSSQWMVAGNTDHLCIIPRFYVHPDSPCSGETWMRQIISFDRMKLTNNEMDDKG    141 - 210
HIILQSMHKYKPRVHVIEQGSSVDLSQIQSLPTEGVKTFSFKETEFTTVTAYQNQQITKLKIERNPFAKG    211 - 280
FRDTGRNRGVLDGLLETYPWRPSFTLDFKTFGADTQSGSSGSSPVTSSGGAPSPLNSLLSPLCFSPMFHL    281 - 350
PTSSLGMPCPEAYLPNVNLPLCYKICPTNFWQQQPLVLPAPERLASSNSSQSLAPLMMEVPMLSSLGVTN    351 - 420
SKSGSSEDSSDQYLQAPNSTNQMLYGLQSPGNIFLPNSITPEALSCSFHPSYDFYRYNFSMPSRLISGSN    421 - 490
HLKVNDDSQVSFGEGKCNHVHWYPAINHYL                                            491 - 520
//

Text Mined References (34)

PMID Year Title
25918826 2015 Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women.
25416956 2014 A proteome-scale map of the human interactome network.
25373698 2015 Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.
24641171 2015 Genome-wide Chromatin Mapping Defines AP2? in the Etiology of Craniofacial Disorders.
24475022 2014 An integrative CGH, MSI and candidate genes methylation analysis of colorectal tumors.
23973723 2013 A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.
23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
22851992 2012 Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation.
22784330 2013 X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.
22438645 2012 A comprehensive review of the genetic basis of cleft lip and palate.
21905918 2012 TBX22 and tongue-tie.
21375406 2012 TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly.
21248356 2011 Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.
20672350 2010 Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
20572854 2010 MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.
19648124 2009 A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17868388 2007 TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.
17846996 2007 TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.
17606301 2007 Human genetic factors in nonsyndromic cleft lip and palate: an update.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16247549 2006 PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.
15772651 2005 The DNA sequence of the human X chromosome.
15602089 2005 Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15479962 2004 An update on the aetiology of orofacial clefts.
14729838 2004 TBX22 mutations are a frequent cause of cleft palate.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12668595 2003 T-box genes in human disorders.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12374769 2002 Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
11733204 2001 Cleft lip and palate: new genetic clues.
11559848 2001 The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.
11024289 2000 Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain.