InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBX22

Summary

InnateDB Protein

IDBP-78136.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TBX22

Protein Name

T-box 22

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000362388

InnateDB Gene

IDBG-78130 (TBX22)

Protein Structure

UniProt Annotation

Function

Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00201}.

Disease Associations

Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]: A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue. {ECO:0000269PubMed:11559848, ECO:0000269PubMed:12374769, ECO:0000269PubMed:14729838}. Note=The disease is caused by mutations affecting the gene represented in this entry.Abruzzo-Erickson syndrome (ABERS) [MIM:302905]: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. {ECO:0000269PubMed:22784330}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Seems to be expressed at a low level.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007275	multicellular organismal development
GO:0045892	negative regulation of transcription, DNA-templated