Retinitis pigmentosa 47

disease

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Also known as retinitis pigmentosa caused by mutation in SAGretinitis pigmentosa type 47RP47SAG retinitis pigmentosa

Summary

Retinitis pigmentosa 47 (MONDO:0013407) is a disease caused by SAG (GenCC Definitive), with 2 cohort genes.

At a glance

Causal gene: SAG (GenCC Definitive)
Cohort genes: 2
ClinVar variants: 13

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 47
Mondo ID	MONDO:0013407
OMIM	613758
DOID	DOID:0110369
UMLS	C3151061
MedGen	462411
GARD	0015702
Is cancer (heuristic)	no

Also known as: retinitis pigmentosa 47 · retinitis pigmentosa caused by mutation in SAG · retinitis pigmentosa type 47 · RP47 · SAG retinitis pigmentosa

Data availability: 13 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 › retinal degeneration › inherited retinal dystrophy › retinitis pigmentosa › retinitis pigmentosa 47

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

13 retrieved; paginated sample, class counts are floors:

6 uncertain significance, 3 pathogenic, 3 likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
12951	NM_000541.5(SAG):c.926del (p.Asn309fs)	SAG	Pathogenic	criteria provided, multiple submitters, no conflicts
41895	NM_000541.5(SAG):c.577C>T (p.Arg193Ter)	SAG	Pathogenic	criteria provided, multiple submitters, no conflicts
41898	NM_000541.5(SAG):c.916G>T (p.Glu306Ter)	SAG	Pathogenic	criteria provided, single submitter
1490119	NM_000541.5(SAG):c.435+1G>A	SAG	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1511520	NM_000541.5(SAG):c.72_75+15del	SAG	Likely pathogenic	criteria provided, multiple submitters, no conflicts
4849439	NM_000541.5(SAG):c.1046+2T>C	SAG	Likely pathogenic	criteria provided, single submitter
720101	NM_000541.5(SAG):c.374C>T (p.Thr125Met)	SAG	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1351684	NM_000541.5(SAG):c.682G>A (p.Val228Met)	SAG	Uncertain significance	criteria provided, multiple submitters, no conflicts
1398862	NM_000541.5(SAG):c.721A>G (p.Ile241Val)	SAG	Uncertain significance	criteria provided, multiple submitters, no conflicts
194605	NM_000541.5(SAG):c.1132G>A (p.Val378Ile)	SAG	Uncertain significance	criteria provided, multiple submitters, no conflicts
2138165	NM_000541.5(SAG):c.733G>A (p.Val245Met)	SAG	Uncertain significance	criteria provided, multiple submitters, no conflicts
811941	NM_000541.5(SAG):c.944+5G>A	SAG	Uncertain significance	criteria provided, multiple submitters, no conflicts
898283	NM_000541.5(SAG):c.208C>T (p.Arg70Cys)	SAG	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 18 · Orphanet: 2 · 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
RNF7	Definitive	Autosomal dominant	retinitis pigmentosa 47	9
SAG	Definitive	Autosomal dominant	retinitis pigmentosa 47	9

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SAG	Orphanet:75382	Oguchi disease
SAG	Orphanet:791	Retinitis pigmentosa

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RNF7	HGNC:10070	ENSG00000114125	Q9UBF6	RING-box protein 2	gencc,clinvar
SAG	HGNC:10521	ENSG00000130561	P10523	S-arrestin	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RNF7	RING-box protein 2	Catalytic component of multiple cullin-5-RING E3 ubiquitin-protein ligase complexes (ECS complexes), which mediate the ubiquitination and subsequent proteasomal degradation of target proteins.
SAG	S-arrestin	Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO.

Protein-family classification

Druggable: 0 · Difficult: 1 · 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
Transcription factor	1	4.1×	0.455
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RNF7	Transcription factor	no		Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_H2
SAG	Other/Unknown	no		Arrestin, Arrestin-like_N, Arrestin-like_C

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
left adrenal gland	1
left adrenal gland cortex	1
right adrenal gland	1
left testis	1
male germ line stem cell (sensu Vertebrata) in testis	1
nucleus accumbens	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RNF7	292	ubiquitous	marker	left adrenal gland, left adrenal gland cortex, right adrenal gland
SAG	106	tissue_specific	marker	nucleus accumbens, male germ line stem cell (sensu Vertebrata) in testis, left testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RNF7	2,453
SAG	1,927

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RNF7	Q9UBF6	7

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SAG	P10523	85.44

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 8. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
The phototransduction cascade	1	634.4×	0.008	SAG
Activation of the phototransduction cascade	1	475.8×	0.008	SAG
Inactivation of CSF3 (G-CSF) signaling	1	219.6×	0.012	RNF7
Inactivation, recovery and regulation of the phototransduction cascade	1	158.6×	0.012	SAG
Visual phototransduction	1	129.8×	0.012	SAG
Sensory Perception	1	47.6×	0.028	SAG
Neddylation	1	23.7×	0.048	RNF7
Antigen processing: Ubiquitination & Proteasome degradation	1	18.6×	0.053	RNF7

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
negative regulation of focal adhesion disassembly	1	2106.5×	0.005	RNF7
G protein-coupled opsin signaling pathway	1	1685.2×	0.005	SAG
G protein-coupled receptor internalization	1	842.6×	0.005	SAG
sensory perception	1	702.2×	0.005	SAG
response to redox state	1	648.1×	0.005	RNF7
reelin-mediated signaling pathway	1	601.9×	0.005	RNF7
negative regulation of focal adhesion assembly	1	383.0×	0.006	RNF7
protein neddylation	1	351.1×	0.006	RNF7
regulation of neuron migration	1	312.1×	0.006	RNF7
post-translational protein modification	1	210.7×	0.008	RNF7
protein K11-linked ubiquitination	1	195.9×	0.008	RNF7
endoplasmic reticulum unfolded protein response	1	147.8×	0.010	RNF7
ubiquitin-dependent protein catabolic process	1	37.1×	0.035	RNF7
cell surface receptor signaling pathway	1	32.0×	0.036	SAG
positive regulation of cell migration	1	30.9×	0.036	RNF7
proteasome-mediated ubiquitin-dependent protein catabolic process	1	26.1×	0.040	RNF7
protein ubiquitination	1	20.7×	0.048	RNF7

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 0 of 2 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
RNF7	0	0
SAG	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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	2	RNF7, SAG

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
RNF7	0	—
SAG	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: RNF7, SAG