RBP3 (retinol binding protein 3)

2014-11-01  

Identity

HGNC
LOCATION
10q11.22
LOCUSID
ALIAS
D10S64,D10S65,D10S66,IRBP,RBPI,RP66

Other Information

Locus ID:

NCBI: 5949
MIM: 180290
HGNC: 9921
Ensembl: ENSG00000265203

Variants:

dbSNP: 5949
ClinVar: 5949
TCGA: ENSG00000265203
COSMIC: RBP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000265203ENST00000584701P10745

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902
The retinoid cycle in cones (daylight vision)REACTOMER-HSA-2187335

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191938952009The role of interphotoreceptor retinoid-binding protein on the translocation of visual retinoids and function of cone photoreceptors.48
190748012009A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.45
216135042011The mammalian cone visual cycle promotes rapid M/L-cone pigment regeneration independently of the interphotoreceptor retinoid-binding protein.39
198238022009Interphotoreceptor retinoid-binding protein (IRBP) is downregulated at early stages of diabetic retinopathy.29
234864662013Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).16
157137992005Autoantigens signal through chemokine receptors: uveitis antigens induce CXCR3- and CXCR5-expressing lymphocytes and immature dendritic cells to migrate.13
257665892015Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.12
249631612014CMPK1 and RBP3 are associated with corneal curvature in Asian populations.7
238826942013Anti-retinal antibodies in patients with macular telangiectasia type 2.6
182669692008Interphotoreceptor retinoid-binding protein as biomarker in systemic autoimmunity with eye inflictions.4

Citation

Dessen P

RBP3 (retinol binding protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72549/rbp3