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 0.000

Synonym

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

Gene

PANTHER Protein Class (1)

  Ortholog (11)

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.
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