Entity Details

Primary name RAX2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96IS3
EntryNameRAX2_HUMAN
FullNameRetina and anterior neural fold homeobox protein 2
TaxID9606
Evidenceevidence at protein level
Length184
SequenceStatuscomplete
DateCreated2007-05-01
DateModified2021-06-02

Ontological Relatives

GenesRAX2

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

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR036934 Retina and anterior neural fold homeobox protein 2FamilyFamily
IPR043562 Retinal homeobox protein RAX/RAX2FamilyFamily

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
RAX2_HUMANCRX_HUMANHPRD, UniProt15028672 details