Protein basic information
LiverAtlas Protein ID |
HuLPr44089 |
Uniprot ID |
|
Uniprot Acc |
Q96IS3; |
Protein name |
Retina and anterior neural fold homeobox protein 2 |
Comment |
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.||SUBUNIT:Interacts with CRX.||SUBCELLULAR LOCATION:Nucleus (By similarity).||DOMAIN:The Homeobox transactivates the Ret-1 element in the presence of CRX and NRL.||DISEASE:Defects in RAX2 are the cause of age-related macular degeneration type 6 (ARMD6) [MIM:613757]. ARMD is in most patients manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch's membrane. ARMD is likely to be a mechanistically heterogeneous group of disorders.||DISEASE:Defects in RAX2 are the cause of cone-rod dystrophy type 11 (CORD11) [MIM:610381]. CORD is characterized by the initial degeneration of cone photoreceptor cells, thus causing early loss of visual acuity and color vision, followed by the degeneration o |
Subcellular localization |
Nucleus(By similarity). |
Gene name |
|
Protein sequence
|
MFLSPGEGPATEGGGLGPGEEAPKKKHRRNRTTFTTYQLH QLERAFEASHYPDVYSREELAAKVHLPEVRVQVWFQNRR AKWRRQERLESGSGAVAAPRLPEAPALPFARPPAMSLPL EPWLGPGPPAVPGLPRLLGPGPGLQASFGPHAFAPTFAD GFALEEASLRLLAKEHAQALDRAWPPA |
Database cross reference |
RefSeq Protein accession:NP_116142
|
Liver relevance
HLPP validation |
Yes/No |
Yes |
Project name |
Human Liver Organelles; |
Ontology annotation
GO-C |
GO:0005634;C:nucleus;IEA:UniProtKB-SubCell. |
GO-F |
GO:0043565;F:sequence-specific DNA binding;IEA:InterPro. GO:0003700;F:sequence-specific DNA binding transcription factor activity;IEA:InterPro. |
GO-P |
GO:0050896;P:response to stimulus;IEA:UniProtKB-KW. GO:0007601;P:visual perception;IEA:UniProtKB-KW. |