TBX22 (T-box transcription factor 22)

2014-11-01  

Identity

HGNC
LOCATION
Xq21.1
LOCUSID
ALIAS
ABERS,CLPA,CPX,TBXX,dJ795G23.1

Other Information

Locus ID:

NCBI: 50945
MIM: 300307
HGNC: 11600
Ensembl: ENSG00000122145

Variants:

dbSNP: 50945
ClinVar: 50945
TCGA: ENSG00000122145
COSMIC: TBX22

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122145ENST00000373294Q9Y458
ENSG00000122145ENST00000373296Q9Y458
ENSG00000122145ENST00000626498A0A0D9SGI2

Expression (GTEx)

0
5
10
15
20
25
30
35
40

References

Pubmed IDYearTitleCitations
147298382004TBX22 mutations are a frequent cause of cleft palate.32
178469962007TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.27
123747692002Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.22
162475492006PAX9 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.17
178683882007TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.13
178683882007TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.13
206723502010Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.13
196481242009A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.9
196481242009A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.9
212483562011Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.9

Citation

Dessen P

TBX22 (T-box transcription factor 22)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74554/tbx22