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Protein basic information

LiverAtlas Protein ID

HuLPr44089

Uniprot ID

RAX2_HUMAN

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

retina and anterior neural fold homeobox 2

Protein sequence

MFLSPGEGPATEGGGLGPGEEAPKKKHRRNRTTFTTYQLH QLERAFEASHYPDVYSREELAAKVHLPEVRVQVWFQNRR AKWRRQERLESGSGAVAAPRLPEAPALPFARPPAMSLPL EPWLGPGPPAVPGLPRLLGPGPGLQASFGPHAFAPTFAD GFALEEASLRLLAKEHAQALDRAWPPA

Database cross reference

RefSeq Protein accession:NP_116142
RefSeq Protein gi:14249388

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.