RBP3 Chromosome 10
Retinol binding protein 3
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What This Gene Does
Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]
Associated Conditions (7)
Retinitis pigmentosa
Inborn genetic diseases
Retinitis pigmentosa 66
RBP3-related disorder
Retinal dystrophy
Cone-rod dystrophy
Autosomal recessive retinitis pigmentosa
Key Variants
RS113381589
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS138240045
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa
Health Risk
RS138305522
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS139222112
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139452142
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS140931492
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS142210499
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143076262
Conflicting classifications of pathogenicity
Health Risk
RS144289912
Conflicting classifications of pathogenicity
Retinitis pigmentosa 66, Retinitis pigmentosa, RBP3-related disorder
Health Risk
RS145285304
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS146038948
Conflicting classifications of pathogenicity
Health Risk
RS146045906
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
All Variants (97)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113381589 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS138240045 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa |
| RS138305522 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS139222112 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139452142 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa, Retinitis pigmentosa |
| RS140931492 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS142210499 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143076262 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144289912 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 66, Retinitis pigmentosa, RBP3-related disorder |
| RS145285304 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS146038948 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146045906 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS146175391 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS146487673 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS146715054 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS147772956 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Retinal dystrophy, Inborn genetic diseases |
| RS147796755 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS1480910058 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS148093336 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 66, RBP3-related disorder, Retinitis pigmentosa 66 |
| RS148247227 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 66, Retinitis pigmentosa, RBP3-related disorder |
| RS148591757 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 66, RBP3-related disorder, Retinitis pigmentosa 66 |
| RS148615170 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS149642039 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 66, Retinitis pigmentosa, Retinitis pigmentosa 66 |
| RS201185969 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 66, Retinal dystrophy, Retinitis pigmentosa 66 |
| RS201472530 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS201808774 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 66, Retinitis pigmentosa, Retinitis pigmentosa 66 |
| RS34044042 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS34460089 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS34932849 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS35186791 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS35238500 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS370173809 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS372137106 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS373417235 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS3740296 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS375342580 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS375422843 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, RBP3-related disorder, Retinitis pigmentosa |
| RS376194840 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, RBP3-related disorder, Retinitis pigmentosa |
| RS377374761 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS41284962 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 66, Retinitis pigmentosa, RBP3-related disorder |
| RS527361141 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS534717081 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS547601457 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS552706223 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS570062125 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS576373730 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS75452094 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS756128531 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS782049247 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS782142964 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |