Version 5.4
Homo sapiens Protein: RAX2
Summary
InnateDB Protein IDBP-600986.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RAX2
Protein Name retina and anterior neural fold homeobox 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000450456
InnateDB Gene IDBG-17256 (RAX2)
Protein Structure
UniProt Annotation
Function May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter. {ECO:0000269PubMed:15028672}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.
Disease Associations Macular degeneration, age-related, 6 (ARMD6) [MIM:613757]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269PubMed:15028672}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Cone-rod dystrophy 11 (CORD11) [MIM:610381]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269PubMed:15028672}. 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 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007601 visual perception
GO:0050896 response to stimulus
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR001356 Homeobox domain
IPR009057 Homeodomain-like
PFAM PF00046
PRINTS
PIRSF
SMART SM00389
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96IS3
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 84839
UniGene Hs.532691
RefSeq XP_005259719
HUGO HGNC:18286
OMIM 610362
CCDS CCDS12112
HPRD 17508
IMGT
EMBL AC005777 AY211277 BC007284 BC018709 BC032512
GenPept AAH07284 AAH18709 AAH32512 AAP41547

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca