Homo sapiens Gene: SIX3
Summary
InnateDB Gene IDBG-49977.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SIX3
Gene Name SIX homeobox 3
Synonyms HPE2
Species Homo sapiens
Ensembl Gene ENSG00000138083
Encoded Proteins
SIX homeobox 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:44941898-44946077
Strand Forward strand
Band p21
Transcripts
ENST00000260653 ENSP00000260653
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
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt O95343
TrEMBL A0PJI2 Q9NSJ2
UniProt Splice Variant
Entrez Gene 6496
UniGene Hs.567336
RefSeq NM_005413
HUGO HGNC:10889
OMIM 603714
CCDS CCDS1821
HPRD
IMGT
EMBL AC012354 AF049339 AF083891 AF092047 AJ012611 AL162671 BC030289 CH471053
GenPept AAD11939 AAD15753 AAD51091 AAH30289 AAX93283 CAB42539 CAB83141 EAX00267 EAX00268
RNA Seq Atlas 6496