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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RBP3
retinol binding protein 3
Chromosome 10 Β· 10q11.22
NCBI Gene: 5949Ensembl: ENSG00000265203.2HGNC: HGNC:9921UniProt: P10745
37PubMed Papers
21Diseases
0Drugs
41Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615extracellular vesicleprotein bindingretinol bindingretinitis pigmentosaRetinal dystrophyneurodegenerative diseaseautosomal recessive retinitis pigmentosa
✦AI Summary

RBP3 (retinol binding protein 3), also known as IRBP (interstitial retinol binding protein), is a photoreceptor-derived protein that shuttles 11-cis and all-trans retinoids between the retinal pigment epithelium and photoreceptor cells, playing a critical role in visual pigment regeneration and retinal homeostasis 1. Beyond its canonical retinoid transport function, RBP3 has emerged as a multifunctional retinal protein with neuroprotective and anti-inflammatory properties 2. RBP3 is genetically associated with corneal curvature and axial length in Asian populations, with a missense variant (rs11204213) showing significant effects on both parameters 3. Pathologically, RBP3 mutations cause RBP3-associated retinopathy, characterized by early-onset high myopia, progressive retinal dystrophy, and both rod and cone photoreceptor dysfunction, with slow progression over decades 4. Additionally, RBP3 mutations are implicated in retinitis pigmentosa 66. Recently, RBP3 has been identified as a potential biomarker for diabetic retinopathy; recombinant RBP3 therapy normalized retinal vascular and neural dysfunctions and reduced inflammatory cytokines in diabetic models more comprehensively than anti-VEGF treatment alone 2, while reduced RBP3 levels in extracellular vesicles correlate with proliferative diabetic retinopathy progression 5. RBP3 regulation via the YY1/RBP3 axis has also been implicated in psoriasis pathogenesis 6.

Sources cited
1
RBP3 displays unique features making it suitable as a biomarker for early-stage diabetic retinopathy detection
PMID: 36901838
2
Recombinant RBP3 ameliorated diabetes-induced neural retinal dysfunction, reduced inflammatory cytokines, and normalized retinal glycolytic rates more comprehensively than anti-VEGF antibody alone
PMID: 39937209
3
RBP3 missense variant rs11204213 is associated with corneal curvature and axial length in Asian populations
PMID: 24963161
4
RBP3-associated retinopathy presents with early-onset high myopia, retinal dystrophy, and both rod and cone photoreceptor dysfunction with slow progression
PMID: 37806543
5
RBP3 levels in plasma and vitreous-derived small extracellular vesicles are significantly reduced in proliferative diabetic retinopathy
PMID: 40210190
6
RBP3 is regulated by YY1 transcription factor via the YY1/RBP3 axis, which is relevant to psoriasis pathogenesis
PMID: 39182383
Disease Associationsβ“˜21
retinitis pigmentosaOpen Targets
0.73Strong
Retinal dystrophyOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
autosomal recessive retinitis pigmentosaOpen Targets
0.34Weak
Cone rod dystrophyOpen Targets
0.33Weak
cone-rod dystrophyOpen Targets
0.33Weak
congenital stationary night blindnessOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
Posterior column ataxia - retinitis pigmentosaOpen Targets
0.17Weak
optic atrophyOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.06Suggestive
Duane retraction syndromeOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
myopiaOpen Targets
0.05Suggestive
ovarian neoplasmOpen Targets
0.05Suggestive
uveitisOpen Targets
0.04Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
Bartsocas-Papas syndrome 1Open Targets
0.04Suggestive
retinal degenerationOpen Targets
0.04Suggestive
Retinitis pigmentosa 66UniProt
Pathogenic Variants41
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs)Pathogenic
Retinitis pigmentosa 66|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 563
NM_002900.3(RBP3):c.160C>T (p.Gln54Ter)Pathogenic
not provided|Retinitis pigmentosa 66
β˜…β˜…β˜†β˜†2025β†’ Residue 54
NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter)Pathogenic
Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 66|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 388
NM_002900.3(RBP3):c.445G>T (p.Glu149Ter)Pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2023β†’ Residue 149
NM_002900.3(RBP3):c.2523C>G (p.Tyr841Ter)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 841
NM_002900.3(RBP3):c.1227del (p.Val411fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 411
NM_002900.3(RBP3):c.2074G>T (p.Glu692Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 692
NM_002900.3(RBP3):c.1394G>A (p.Trp465Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 465
NM_002900.3(RBP3):c.728del (p.Ala243fs)Likely pathogenic
Retinitis pigmentosa 66
β˜…β˜†β˜†β˜†2025β†’ Residue 243
NM_002900.3(RBP3):c.3320del (p.Leu1107fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1107
NM_002900.3(RBP3):c.2646C>G (p.Tyr882Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 882
NM_002900.3(RBP3):c.802A>T (p.Lys268Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 268
NM_002900.3(RBP3):c.3245+1delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_002900.3(RBP3):c.2352C>A (p.Tyr784Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 784
NM_002900.3(RBP3):c.2502C>A (p.Tyr834Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 834
NM_002900.3(RBP3):c.2086del (p.Asp696fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 696
NM_002900.3(RBP3):c.2905C>T (p.Gln969Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 969
NM_002900.3(RBP3):c.2824C>T (p.Gln942Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 942
NM_002900.3(RBP3):c.3087C>T (p.Ile1029=)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 1029
NM_002900.3(RBP3):c.3459G>C (p.Glu1153Asp)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 1153
View on ClinVar β†—
Related Genes
RHOProtein interaction94%SAGProtein interaction92%RCVRNProtein interaction91%CLUL1Protein interaction90%ZNF239Protein interaction88%RPE65Protein interaction88%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
22%
Ovary
22%
Liver
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
RBP3RHOSAGRCVRNCLUL1ZNF239RPE65
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P10745
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.61–0.96]
RankingsWhere RBP3 stands among ~20K protein-coding genes
  • #10,678of 20,598
    Most Researched37
  • #1,523of 5,498
    Most Pathogenic Variants41
  • #9,021of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedRBP3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301590
1.00
2
Liquiritin exerts psoriasis therapy and prevention by regulating the YY1/RBP3 axis.
PMID: 39182383
Phytomedicine Β· 2024
0.90
3
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
PMID: 37806543
Am J Ophthalmol Β· 2024
0.80
4
CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
PMID: 24963161
Hum Mol Genet Β· 2014
0.70
5
Towards a New Biomarker for Diabetic Retinopathy: Exploring RBP3 Structure and Retinoids Binding for Functional Imaging of Eyes In Vivo.
PMID: 36901838
Int J Mol Sci Β· 2023
0.60