Property Summary

NCBI Gene PubMed Count 32
Grant Count 140
R01 Count 63
Funding $21,126,568.49
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 0.000

Synonym

Accession Q9Y458 Q5JZ06 Q96LC0 Q9HBF1 T-box protein 22
Symbols CPX
CLPA
TBXX
ABERS
dJ795G23.1

Gene

PANTHER Protein Class (1)

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.
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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.
More...