Entity Details

Primary name RAX2
Entity type gene
Source Source Link

Details

PrimaryID84839
RefseqGeneNG_011565
SymbolRAX2
Nameretina and anterior neural fold homeobox 2
Chromosome19
Location19p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRAX2_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007601 visual perception
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0050896 response to stimulus

Diseases

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Disease IDSourceNameDescription
610381 OMIMCone-rod dystrophy 11 (CORD11)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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry.
613757 OMIMMacular degeneration, age-related, 6 (ARMD6)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. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
RAX2CRXHPRD, UniProt15028672 details