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
369016932023A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.0
369016932023A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.0
299320612018Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families.3
299320612018Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families.3
253736982015Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.5
259188262015Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women.2
253736982015Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.5
259188262015Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women.2
227843302013X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.6
227843302013X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.6
212483562011Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.14
212483562011Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.14
205728542010MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.12
206723502010Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.25
205728542010MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.12

Citation

Dessen P

TBX22 (T-box transcription factor 22)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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