Homo sapiens Gene: RAX
Summary
InnateDB Gene IDBG-4049.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RAX
Gene Name retina and anterior neural fold homeobox
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000134438
Encoded Proteins
retina and anterior neural fold homeobox
retina and anterior neural fold homeobox
retina and anterior neural fold homeobox
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:59267035-59274086
Strand Reverse strand
Band q21.32
Transcripts
ENST00000256852 ENSP00000256852
ENST00000334889 ENSP00000334813
ENST00000555288 ENSP00000450583
ENST00000591550
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0007389 pattern specification process
GO:0007420 brain development
GO:0007601 visual perception
GO:0021854 hypothalamus development
GO:0043010 camera-type eye development
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060173 limb development
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.278957 Hs.711871
RefSeq NM_013435
HUGO
OMIM
CCDS CCDS11972
HPRD 03530
IMGT
EMBL
GenPept
RNA Seq Atlas