Retinitis pigmentosa 2

disease

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Also known as retinitis pigmentosa caused by mutation in RP2retinitis pigmentosa type 2RP2RP2 retinitis pigmentosa

Summary

Retinitis pigmentosa 2 (MONDO:0010723) is a disease caused by RP2 (GenCC Definitive), with 1 cohort gene and 1 clinical trial.

At a glance

Causal gene: RP2 (GenCC Definitive)
Cohort genes: 1
ClinVar variants: 54
Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 2
Mondo ID	MONDO:0010723
MeSH	C567523
OMIM	312600
DOID	DOID:0110415
UMLS	C2681923
MedGen	394544
GARD	0010380
Is cancer (heuristic)	no

Also known as: retinitis pigmentosa 2 · retinitis pigmentosa caused by mutation in RP2 · retinitis pigmentosa type 2 · RP2 · RP2 retinitis pigmentosa

Data availability: 54 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 2

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

54 retrieved; paginated sample, class counts are floors:

19 likely pathogenic, 15 pathogenic, 6 uncertain significance, 6 conflicting classifications of pathogenicity, 5 pathogenic/likely pathogenic, 3 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1070512	NM_006915.3(RP2):c.58G>T (p.Glu20Ter)	LOC130068202	Pathogenic	criteria provided, multiple submitters, no conflicts
2097576	NM_006915.3(RP2):c.1A>T (p.Met1Leu)	LOC130068202	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1043015	NM_006915.3(RP2):c.969+2T>C	RP2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
10545	NM_006915.3(RP2):c.76C>T (p.Gln26Ter)	RP2	Pathogenic	criteria provided, multiple submitters, no conflicts
10546	NM_006915.3(RP2):c.353G>A (p.Arg118His)	RP2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
10547	NM_006915.3(RP2):c.453C>G (p.Tyr151Ter)	RP2	Pathogenic	no assertion criteria provided
10548	NM_006915.3(RP2):c.453del (p.Tyr152Ilefs*4)	RP2	Pathogenic	no assertion criteria provided
10549	NM_006915.3(RP2):c.353G>T (p.Arg118Leu)	RP2	Pathogenic	criteria provided, single submitter
10551	NM_006915.3(RP2):c.358C>T (p.Arg120Ter)	RP2	Pathogenic	criteria provided, multiple submitters, no conflicts
1068681	NM_006915.3(RP2):c.450G>A (p.Trp150Ter)	RP2	Pathogenic	criteria provided, multiple submitters, no conflicts
1213906	NM_006915.3(RP2):c.333_334del (p.Leu112fs)	RP2	Pathogenic	criteria provided, single submitter
1213909	NM_006915.3(RP2):c.465_468dup (p.Phe157fs)	RP2	Pathogenic	criteria provided, multiple submitters, no conflicts
2499619	NM_006915.3(RP2):c.883+1del	RP2	Pathogenic	criteria provided, single submitter
289957	NM_006915.3(RP2):c.593_594del (p.Tyr198fs)	RP2	Pathogenic	criteria provided, multiple submitters, no conflicts
3598322	NM_006915.3(RP2):c.445C>T (p.Gln149Ter)	RP2	Pathogenic	criteria provided, single submitter
4291999	NM_006915.3(RP2):c.759_762del (p.Ile254fs)	RP2	Pathogenic	criteria provided, single submitter
437944	NM_006915.3(RP2):c.352C>T (p.Arg118Cys)	RP2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4686703	NM_006915.3(RP2):c.969+2T>G	RP2	Pathogenic	criteria provided, single submitter
860467	NM_006915.3(RP2):c.409_411del (p.Ile137del)	RP2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
871199	NM_006915.3(RP2):c.299dup (p.Phe101fs)	RP2	Pathogenic	criteria provided, single submitter
10544	NM_006915.3(RP2):c.16_18del (p.Ser6del)	LOC130068202	Likely pathogenic	criteria provided, single submitter
4293627	NM_006915.3(RP2):c.5dup (p.Cys3fs)	LOC130068202	Likely pathogenic	criteria provided, single submitter
1048164	NM_006915.3(RP2):c.884-9T>A	RP2	Likely pathogenic	criteria provided, single submitter
1065686	NM_006915.3(RP2):c.103-2A>G	RP2	Likely pathogenic	criteria provided, single submitter
1172693	NM_006915.3(RP2):c.524A>C (p.His175Pro)	RP2	Likely pathogenic	criteria provided, single submitter
1184478	NM_006915.3(RP2):c.768+1G>A	RP2	Likely pathogenic	criteria provided, single submitter
1299649	NM_006915.3(RP2):c.969+3A>C	RP2	Likely pathogenic	criteria provided, single submitter
2920645	NM_006915.3(RP2):c.623_624dup (p.Ala209fs)	RP2	Likely pathogenic	no assertion criteria provided
3731278	NM_006915.3(RP2):c.970-51_*1del	RP2	Likely pathogenic	criteria provided, single submitter
3767286	NM_006915.3(RP2):c.277del (p.Leu93fs)	RP2	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · 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
RP2	Definitive	X-linked	retinitis pigmentosa 2	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RP2	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
RP2	HGNC:10274	ENSG00000102218	O75695	Protein XRP2	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RP2	Protein XRP2	Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RP2	Other/Unknown	no		CARP_motif, Tubulin-bd_cofactor_C_dom, CAP/MinC_C

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
leukocyte	1
monocyte	1
mononuclear cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RP2	242	ubiquitous	marker	monocyte, mononuclear cell, leukocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RP2	911

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RP2	O75695	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
Trafficking of myristoylated proteins to the cilium	1	2284.0×	4e-04	RP2

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
post-Golgi vesicle-mediated transport	1	1053.2×	0.005	RP2
protein folding	1	103.4×	0.017	RP2
visual perception	1	79.5×	0.017	RP2
cilium assembly	1	73.6×	0.017	RP2
protein transport	1	43.9×	0.023	RP2

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
RP2	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	0
E	Difficult family or no structure, no drug	1	RP2

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)
RP2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06982417	Not specified	RECRUITING	InsightRP2 Registry

Cohort genes: RP2