InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SIX3

Summary

InnateDB Protein

IDBP-49979.5

Last Modified

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

Gene Symbol

SIX3

Protein Name

SIX homeobox 3

Synonyms

HPE2;

Species

Homo sapiens

Ensembl Protein

ENSP00000260653

InnateDB Gene

IDBG-49977 (SIX3)

Protein Structure

UniProt Annotation

Function

Transcriptional repressor essential for eye and forebrain development. Involved in the development of the forebrain by negatively regulating the expression of WNT1. Plays an important role during retina development and lens morphogenesis in an AES and TLE4-dependent manner (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Holoprosencephaly 2 (HPE2) [MIM:157170]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. {ECO:0000269PubMed:10369266, ECO:0000269PubMed:15221788, ECO:0000269PubMed:17001667}. 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 8 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding
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:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0001654	eye development
GO:0006366	transcription from RNA polymerase II promoter
GO:0006606	protein import into nucleus
GO:0007420	brain development
GO:0007601	visual perception
GO:0021536	diencephalon development
GO:0021537	telencephalon development
GO:0021797	forebrain anterior/posterior pattern specification
GO:0030178	negative regulation of Wnt signaling pathway
GO:0043010	camera-type eye development
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048512	circadian behavior
GO:0060235	lens induction in camera-type eye