InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SIX6

Summary

InnateDB Protein

IDBP-8261.5

Last Modified

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

Gene Symbol

SIX6

Protein Name

SIX homeobox 6

Synonyms

MCOPCT2; OPTX2; Six9;

Species

Homo sapiens

Ensembl Protein

ENSP00000328596

InnateDB Gene

IDBG-8257 (SIX6)

Protein Structure

UniProt Annotation

Function

May be involved in eye development.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.

Disease Associations

Microphthalmia, isolated, with cataract, 2 (MCOPCT2) [MIM:212550]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269PubMed:15266624}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the developing and adult retina. Also expressed in the hypothalamic and the pituitary regions.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001205	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0007601	visual perception
GO:0009887	organ morphogenesis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter