TOX3: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

TOX3

Aliases

CAGF9, TNRC9

Entrez Gene ID

27324

Gene Name

TOX high mobility group box family member 3

Chromosomal Location

16q12.1

HGNC ID

HGNC:11972

Summary

The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]

RefSeq DNA

NG_012623.1

RefSeq mRNA

NM_001146188.2, NM_001080430.4

e!Ensembl

Gene	ENSG00000103460
Transcript	ENST00000407228, ENST00000219746, ENST00000563091, ENST00000568436
Protein	ENSP00000385705, ENSP00000219746, ENSP00000457401, ENSP00000463843

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs4784165	GGACTGCAGGGCGCTCACGCTTGCTG	C/T	GAAGTAAGGCGTTTGAAGGTGAGGC		25311971, 28537684, 22885925

Gene Ontology (GO)

Show/Hide all(9 )

GO ID	Ontology	Function	Evidence	Reference
GO:0042981	Biological process	Regulation of apoptotic process	IDA	21172805
GO:0043524	Biological process	Negative regulation of neuron apoptotic process	IDA	21172805
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	21172805
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0003682	Molecular function	Chromatin binding	IDA	21172805
GO:0005515	Molecular function	Protein binding	IPI	21172805
GO:0034056	Molecular function	Estrogen response element binding	IDA	21172805
GO:0042803	Molecular function	Protein homodimerization activity	IDA	21172805
GO:0051219	Molecular function	Phosphoprotein binding	IPI	21172805

Protein Information

Protein Name

TOX high mobility group box family member 3, CAG trinucleotide repeat-containing gene F9 protein, trinucleotide repeat-containing gene 9 protein

Function

Transcriptional coactivator of the p300/CBP-mediated transcription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the estrogen-responsive or BCL-2 promoters. Required for depolarization-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the estrogen-responsive C3 promoter region.

Refseq Proteins

NP_001139660.1, NP_001073899.2

UniProt

O15405

Pfam

Pfam Accession	Pfam ID
PF00505	HMG_box