Prolonged electroretinal response suppression 2

Summary

Prolonged electroretinal response suppression 2 (MONDO:0958190) is a disease caused by RGS9BP (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: RGS9BP (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	prolonged electroretinal response suppression 2
Mondo ID	MONDO:0958190
OMIM	620344
DOID	DOID:0070364
UMLS	C5830452
MedGen	1841088
GARD	0026966
Is cancer (heuristic)	no

Data availability: 6 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › bradyopsia › prolonged electroretinal response suppression 2

Related subtypes (1): prolonged electroretinal response suppression 1

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

6 retrieved; paginated sample, class counts are floors:

3 drug response, 1 uncertain significance, 1 pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
3065332	NM_207391.3(RGS9BP):c.330_342del (p.Pro111fs)	RGS9BP	Pathogenic	criteria provided, single submitter
2664378	NC_000019.10:g.(?32675848)(32678300_?)del	LOC130064160	drug response	no assertion criteria provided
2664377	NM_207391.3(RGS9BP):c.277_278del (p.Met93fs)	LOC130064161	drug response	no assertion criteria provided
2499979	NM_207391.3(RGS9BP):c.94_102del (p.Asp32_Gln34del)	RGS9BP	drug response	no assertion criteria provided
964535	NM_207391.3(RGS9BP):c.614dup (p.Cys206fs)	RGS9BP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1026242	NM_207391.3(RGS9BP):c.583T>G (p.Ser195Ala)	RGS9BP	Uncertain significance	criteria provided, multiple submitters, no conflicts

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
RGS9BP	Definitive	Autosomal recessive	prolonged electroretinal response suppression 2	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RGS9BP	Orphanet:75374	Bradyopsia

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
RGS9BP	HGNC:30304	ENSG00000186326	Q6ZS82	Regulator of G-protein signaling 9-binding protein	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RGS9BP	Regulator of G-protein signaling 9-binding protein	Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction.

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)
RGS9BP	Other/Unknown	no		RGS7BP/RGS9BP

Expression context

Cohort genes with no expression data: 0.

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
gastrocnemius	1
hindlimb stylopod muscle	1
male germ line stem cell (sensu Vertebrata) in testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RGS9BP	90	broad	yes	male germ line stem cell (sensu Vertebrata) in testis, hindlimb stylopod muscle, gastrocnemius

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RGS9BP	543

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
RGS9BP	Q6ZS82	82.45

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
Inactivation, recovery and regulation of the phototransduction cascade	1	317.2×	0.003	RGS9BP

GO biological processes 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.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
detection of light stimulus involved in visual perception	1	648.1×	0.004	RGS9BP
negative regulation of signal transduction	1	374.5×	0.004	RGS9BP
G protein-coupled receptor signaling pathway	1	36.2×	0.028	RGS9BP

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
RGS9BP	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	RGS9BP

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)
RGS9BP	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.