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FLASH GENE

Symbol

TBX15

contributors: mct/npt - updated : 29-03-2013

HGNC name	T-box 15
HGNC id	11594

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PVSD pelviscapular dysplasia
Location	1p13-p11.1      Physical location : 119.425.665 - 119.532.179
Synonym name	T-box 14
	T-box transcription factor TBX15
Synonym symbol(s)	TBX14

DNA

TYPE	functioning gene
STRUCTURE	106.50 kb     8 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_152380 8 - 3513 - 496 - 2005 15652702

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear         Nervous nerve

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol not specific adipocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	craniofacial region and developing limbs

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a large N terminal DNA binding domain (T-box)

HOMOLOGY

interspecies

homolog to murine T-box gene Tbx15 (T,brachyury)

Homologene

FAMILY

T-box family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in the regulation of developmental processes
	may have played a role in patterning somites in the last common ancestor of all chordates
	plays an important role in the development of the skeleton of the limb, vertebral column and head by controling the number of mesenchymal precursor cells and chondrocytes
	required for the condensation of mesenchymal precursor cells in early development of the skeleton
	mainly acting as a gene repressor
	might be involved in the pathophysiology of placental diseases
	important role in controlling depot-specific adipocyte development and function
	potential role in the depot-specific control of adipose tissue development and function
	may regulate intraabdominal adipose tissue development and fat accumulation and thus play a role in the development of central obesity and metabolic syndrome
	TBX2, TBX3, TBX4, TBX5 and three members of TBX1 (TBX1, TBX15, TBX18), Brachyury (T) and Eomes (TBR2) are expressed in the developing limb

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding through T-box

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PVSD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in preadipocytes, such as occurs in visceral fat of lean individuals, reduces adipocyte differentiation capacity and impairs adipocyte triglyceride accumulation

Susceptibility

Variant & Polymorphism

Candidate gene	maybe a candidate gene for acromegaloid facial appearance syndrome
Marker
Therapy target
	System Type Disorder Pubmed obesity     targeting the mechanism by which TBX15 controls mitochondrial mass and activity in preadipocytes, could provide new strategies for the prevention of visceral fat accumulation and potentially lead to therapies for obesity-linked insulin-resistant states

ANIMAL & CELL MODELS