RAX2
entrez
84839
canonical
uniprot
Q96IS3
canonical
ensembl
ENSG00000173976
resolver
ensp
ENSP00000450456
resolver
ensp
ENSP00000450687
resolver
enst
ENST00000555633
resolver
enst
ENST00000555978
resolver
genesymbol
RAX2
resolver
genesymbol_syn
QRX
resolver
genesymbol_syn
RAXL1
resolver
hgnc
HGNC:18286
resolver
uniprot_entry
RAX2_HUMAN
resolver
amino_acid_sequence
MFLSPGEGPATEGGGLGPGEEAPKKKHRRNRTTFTTYQLHQLERAFEASHYPDVYSREELAAKVHLPEVRVQVWFQNRRAKWRRQERLESGSGAVAAPRLPEAPALPFARPPAMSLPLEPWLGPGPPAVPGLPRLLGPGPGLQASFGPHAFAPTFADGFALEEASLRLLAKEHAQALDRAWPPA
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:15028672}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:15028672}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 95 (RP95) [MIM:620102]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP95 is an autosomal recessive form characterized by pale optic disks, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation. {ECO:0000269|PubMed:30377383}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:15028672}.
uniprot
proteins
mass_dalton
20086
uniprot
proteins
pubmed
15028672
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
30377383
uniprot
proteins
pubmed
30607024
uniprot
proteins
sequence_length
184
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins