InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBX15

Summary

InnateDB Protein

IDBP-101480.6

Last Modified

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

Gene Symbol

TBX15

Protein Name

T-box 15

Synonyms

TBX14;

Species

Homo sapiens

Ensembl Protein

ENSP00000207157

InnateDB Gene

IDBG-101478 (TBX15)

Protein Structure

UniProt Annotation

Function

Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity). {ECO:0000250}.

Subcellular Localization

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

Disease Associations

Cousin syndrome (COUSS) [MIM:260660]: Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly. {ECO:0000269PubMed:19068278}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000976	transcription regulatory region sequence-specific DNA binding
GO:0001106	RNA polymerase II transcription corepressor activity
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization 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:0048701	embryonic cranial skeleton morphogenesis
GO:0048704	embryonic skeletal system morphogenesis