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FLASH GENE

Symbol

TOX3

contributors: mct/npt/pgu - updated : 06-05-2009

HGNC name	TOX high mobility group box family member 3
HGNC id	11972

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	16q12.1      Physical location : 52.471.917 - 52.581.714
Synonym name	trinucleotide repeat containing 9
	CAG trinucleotide repeat-containing gene F9 protein
Synonym symbol(s)	CAGF9, TNRC9

DNA

TYPE	functioning gene
STRUCTURE	108.90 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed TOX3 8 - 3121 - 589 - 2003 12697058 variant 2 - - 3123 - 571 - 2003 12697058

EXPRESSION

Type

widely

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 Nervous brain hindbrain cerebellum cerebellar cortex predominantly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central     predominantly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HMG-box domain first appeared in invertebrates, duplicated in early vertebrates and likely took on new functions in mammalian species

HOMOLOGY

interspecies

ortholog to murine Tnrc9

Homologene

FAMILY

high mobility group box family

CATEGORY

regulatory , DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in regulation of transcription, DNA-dependent
	HMG-box protein involved in T cell development
	high mobility group box protein involved in mediating calcium-dependent transcription
	important regulator of calcium-dependent transcription and may exerts its effect on CRE-mediated transcription via its association with the CREB–CBP complex
	regulates Ca(2+)-dependent transcription in neurons through interaction with the cAMP-response-element-binding protein (CREB1)
	can enhance transcriptional activation from different cytoprotective promoters and this is dependent on the predominance of either phosphorylated CREB1 or CITED1 within the transcriptionally active complex

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	interacts with both cAMP response element (CRE)-binding protein (CREB) and CREB-binding protein (CBP)
	interacts with native CREB1 and induces the CREB1-responsive BCL2 promoter, which can be inhibited by coexpression of CITED1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to restless legs syndrome

Variant & Polymorphism SNP	increasing the risk of restless legs syndrome

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS