Retinitis pigmentosa 75

disease

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Also known as AGBL5 retinitis pigmentosaretinitis pigmentosa caused by mutation in AGBL5retinitis pigmentosa type 75RP75

Summary

Retinitis pigmentosa 75 (MONDO:0014871) is a disease caused by AGBL5 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: AGBL5 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 11

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 75
Mondo ID	MONDO:0014871
OMIM	617023
DOID	DOID:0110361
UMLS	C4310759
MedGen	934726
GARD	0016176
Is cancer (heuristic)	no

Also known as: AGBL5 retinitis pigmentosa · retinitis pigmentosa 75 · retinitis pigmentosa caused by mutation in AGBL5 · retinitis pigmentosa type 75 · RP75

Data availability: 11 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 75

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

11 retrieved; paginated sample, class counts are floors:

5 likely pathogenic, 2 uncertain significance, 1 pathogenic, 1 conflicting classifications of pathogenicity, 1 benign, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
242932	NM_021831.6(AGBL5):c.883G>A (p.Asp295Asn)	AGBL5	Pathogenic	criteria provided, single submitter
1184585	NM_021831.6(AGBL5):c.323C>G (p.Pro108Arg)	AGBL5	Likely pathogenic	no assertion criteria provided
1710121	NM_021831.6(AGBL5):c.1465del (p.Arg489fs)	AGBL5	Likely pathogenic	no assertion criteria provided
4845840	NM_021831.6(AGBL5):c.2242+1G>A	AGBL5	Likely pathogenic	criteria provided, single submitter
916722	NM_021831.6(AGBL5):c.313_319del (p.Gly105fs)	AGBL5	Likely pathogenic	no assertion criteria provided
978985	NM_021831.6(AGBL5):c.1255dup (p.Thr419fs)	AGBL5	Likely pathogenic	criteria provided, single submitter
242933	NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp)	AGBL5	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1007408	NM_021831.6(AGBL5):c.2602C>A (p.Gln868Lys)	AGBL5	Uncertain significance	criteria provided, multiple submitters, no conflicts
1213944	NM_021831.6(AGBL5):c.938G>A (p.Arg313His)	AGBL5	Uncertain significance	criteria provided, multiple submitters, no conflicts
771695	NM_021831.6(AGBL5):c.2046T>A (p.Ser682=)	AGBL5	Benign	criteria provided, multiple submitters, no conflicts
789558	NM_021831.6(AGBL5):c.2375G>A (p.Arg792Gln)	AGBL5	Benign/Likely benign	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
AGBL5	Strong	Autosomal recessive	retinitis pigmentosa 75	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
AGBL5	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
AGBL5	HGNC:26147	ENSG00000084693	Q8NDL9	Cytosolic carboxypeptidase-like protein 5	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
AGBL5	Cytosolic carboxypeptidase-like protein 5	Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins.

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)
AGBL5	Protease	yes	3.4.17.24	Peptidase_M14, M14_AGBL5-like, Pepdidase_M14_N

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
left testis	1
right testis	1
testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
AGBL5	261	ubiquitous	marker	left testis, right testis, testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
AGBL5	716

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
AGBL5	Q8NDL9	10

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
Carboxyterminal post-translational modifications of tubulin	1	237.9×	0.013	AGBL5
Post-translational protein modification	1	19.2×	0.078	AGBL5
Metabolism of proteins	1	12.4×	0.081	AGBL5

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
protein branching point deglutamylation	1	16852.0×	4e-04	AGBL5
protein deglutamylation	1	5617.3×	5e-04	AGBL5
C-terminal protein deglutamylation	1	4213.0×	5e-04	AGBL5
protein side chain deglutamylation	1	2808.7×	5e-04	AGBL5
defense response to virus	1	69.3×	0.017	AGBL5
proteolysis	1	34.2×	0.029	AGBL5

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
AGBL5	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
AGBL5	3.4.17.24	tubulin-glutamate carboxypeptidase

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	1	AGBL5
D	Druggable family + AlphaFold only, no drug	0
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)
AGBL5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: AGBL5