Retinitis pigmentosa 66

disease

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Also known as RBP3 retinitis pigmentosaretinitis pigmentosa caused by mutation in RBP3retinitis pigmentosa type 66RP66

Summary

Retinitis pigmentosa 66 (MONDO:0014093) is a disease caused by RBP3 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: RBP3 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 59

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 66
Mondo ID	MONDO:0014093
OMIM	615233
DOID	DOID:0110393
UMLS	C3715216
MedGen	811638
GARD	0015923
Is cancer (heuristic)	no

Also known as: RBP3 retinitis pigmentosa · retinitis pigmentosa 66 · retinitis pigmentosa caused by mutation in RBP3 · retinitis pigmentosa type 66 · RP66

Data availability: 59 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › retinitis pigmentosa › retinitis pigmentosa 66

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

59 retrieved; paginated sample, class counts are floors:

36 uncertain significance, 8 conflicting classifications of pathogenicity, 5 benign, 3 likely pathogenic, 3 benign/likely benign, 3 pathogenic, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1065743	NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs)	RBP3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
50368	NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn)	RBP3	Pathogenic	criteria provided, single submitter
964958	NM_002900.3(RBP3):c.160C>T (p.Gln54Ter)	RBP3	Pathogenic	criteria provided, multiple submitters, no conflicts
978973	NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter)	RBP3	Pathogenic	criteria provided, multiple submitters, no conflicts
1804033	NM_002900.3(RBP3):c.1472del (p.Leu491fs)	RBP3	Likely pathogenic	criteria provided, single submitter
4813801	NM_002900.3(RBP3):c.728del (p.Ala243fs)	RBP3	Likely pathogenic	criteria provided, single submitter
869149	NM_002900.3(RBP3):c.1408del (p.Asp470fs)	RBP3	Likely pathogenic	criteria provided, single submitter
1356195	NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln)	RBP3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
167571	NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn)	RBP3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
193241	NM_002900.3(RBP3):c.1514A>T (p.His505Leu)	RBP3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
193243	NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu)	RBP3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
195184	NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr)	RBP3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
208307	NM_002900.3(RBP3):c.1569C>G (p.His523Gln)	RBP3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
208310	NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)	RBP3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
94087	NM_002900.3(RBP3):c.1631G>A (p.Arg544His)	RBP3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1014391	NM_002900.3(RBP3):c.1532A>T (p.Asp511Val)	RBP3	Uncertain significance	criteria provided, multiple submitters, no conflicts
1063148	NM_002900.3(RBP3):c.1042C>T (p.Pro348Ser)	RBP3	Uncertain significance	criteria provided, multiple submitters, no conflicts
1184596	NM_002900.3(RBP3):c.509G>A (p.Arg170Gln)	RBP3	Uncertain significance	criteria provided, multiple submitters, no conflicts
1448809	NM_002900.3(RBP3):c.97A>G (p.Lys33Glu)	RBP3	Uncertain significance	criteria provided, single submitter
1463164	NM_002900.3(RBP3):c.722A>T (p.Asp241Val)	RBP3	Uncertain significance	criteria provided, multiple submitters, no conflicts
193244	NM_002900.3(RBP3):c.973G>A (p.Ala325Thr)	RBP3	Uncertain significance	criteria provided, multiple submitters, no conflicts
208292	NM_002900.3(RBP3):c.53G>T (p.Gly18Val)	RBP3	Uncertain significance	no assertion criteria provided
208293	NM_002900.3(RBP3):c.365G>A (p.Arg122His)	RBP3	Uncertain significance	no assertion criteria provided
208294	NM_002900.3(RBP3):c.463G>A (p.Val155Met)	RBP3	Uncertain significance	no assertion criteria provided
208296	NM_002900.3(RBP3):c.586G>A (p.Val196Met)	RBP3	Uncertain significance	criteria provided, single submitter
208297	NM_002900.3(RBP3):c.800G>A (p.Arg267Gln)	RBP3	Uncertain significance	criteria provided, single submitter
208298	NM_002900.3(RBP3):c.844G>A (p.Val282Met)	RBP3	Uncertain significance	criteria provided, multiple submitters, no conflicts
208299	NM_002900.3(RBP3):c.962C>T (p.Thr321Ile)	RBP3	Uncertain significance	criteria provided, multiple submitters, no conflicts
208301	NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr)	RBP3	Uncertain significance	criteria provided, multiple submitters, no conflicts
208304	NM_002900.3(RBP3):c.1298C>T (p.Ser433Leu)	RBP3	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
RBP3	Strong	Autosomal recessive	retinitis pigmentosa 66	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RBP3	Orphanet:791	Retinitis pigmentosa

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RBP3	HGNC:9921	ENSG00000265203	P10745	Retinol-binding protein 3	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RBP3	Retinol-binding protein 3	IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Protease	1	36.6×	0.027

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RBP3	Protease	yes		Tail-specific_protease, ClpP/crotonase-like_dom_sf

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	1
pancreatic ductal cell	1
skeletal muscle tissue of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RBP3	38	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, pancreatic ductal cell, skeletal muscle tissue of biceps brachii

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RBP3	833

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
RBP3	P10745	85.10

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
The retinoid cycle in cones (daylight vision)	1	1631.4×	0.001	RBP3
The canonical retinoid cycle in rods (twilight vision)	1	519.1×	0.002	RBP3

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
retinoid metabolic process	1	495.6×	0.008	RBP3
lipid metabolic process	1	91.6×	0.017	RBP3
visual perception	1	79.5×	0.017	RBP3
proteolysis	1	34.2×	0.029	RBP3

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RBP3	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	RBP3
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
RBP3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: RBP3