TBX22 (T-box transcription factor 22)

2014-11-01 Affiliation

Identity

HGNC

TBX22

LOCATION

Xq21.1

LOCUSID

50945

ALIAS

ABERS,CLPA,CPX,TBXX,dJ795G23.1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000122145	ENST00000373294	Q9Y458
ENSG00000122145	ENST00000373296	Q9Y458
ENSG00000122145	ENST00000626498	A0A0D9SGI2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
36901693	2023	A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.	0
36901693	2023	A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.	0
29932061	2018	Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families.	3
29932061	2018	Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families.	3
25373698	2015	Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.	5
25918826	2015	Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women.	2
25373698	2015	Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.	5
25918826	2015	Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women.	2
22784330	2013	X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.	6
22784330	2013	X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.	6
21248356	2011	Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.	14
21248356	2011	Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.	14
20572854	2010	MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.	12
20672350	2010	Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.	25
20572854	2010	MTHFR 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

Online version: http://atlasgeneticsoncology.org/gene/74554/gene-explorer/css/card-gene.css