Retinitis pigmentosa with or without situs inversus

disease

On this page

Also known as ARL2BP retinitis pigmentosaretinitis pigmentosa caused by mutation in ARL2BP

Summary

Retinitis pigmentosa with or without situs inversus (MONDO:0014186) is a disease caused by ARL2BP (GenCC Definitive), with 1 cohort gene.

At a glance

Causal gene: ARL2BP (GenCC Definitive)
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 with or without situs inversus
Mondo ID	MONDO:0014186
OMIM	615434
DOID	DOID:0110419
UMLS	C4747737
MedGen	1658130
GARD	0015965
Is cancer (heuristic)	no

Also known as: ARL2BP retinitis pigmentosa · retinitis pigmentosa caused by mutation in ARL2BP · retinitis pigmentosa with or without situs inversus

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 with or without situs inversus

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:

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

ClinVar	Variant (HGVS)	Gene	Classification	Review
2577503	NM_012106.4(ARL2BP):c.33_36del (p.Phe13fs)	ARL2BP	Pathogenic	criteria provided, single submitter
3338167	NM_012106.4(ARL2BP):c.294-1G>C	ARL2BP	Pathogenic	no assertion criteria provided
3338170	NM_012106.4(ARL2BP):c.22_23del (p.Ser8fs)	ARL2BP	Pathogenic	no assertion criteria provided
437946	NM_012106.4(ARL2BP):c.207+1G>A	ARL2BP	Pathogenic	criteria provided, multiple submitters, no conflicts
559501	NM_012106.4(ARL2BP):c.207+1G>T	ARL2BP	Pathogenic	no assertion criteria provided
65473	NM_012106.4(ARL2BP):c.101-1G>C	ARL2BP	Pathogenic	no assertion criteria provided
1064633	NM_012106.4(ARL2BP):c.293+5G>A	ARL2BP	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1064073	NM_012106.4(ARL2BP):c.101-7G>A	ARL2BP	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1382495	NM_012106.4(ARL2BP):c.250C>T (p.Arg84Trp)	ARL2BP	Uncertain significance	criteria provided, multiple submitters, no conflicts
4292845	NM_012106.4(ARL2BP):c.38+5G>A	ARL2BP	Uncertain significance	criteria provided, single submitter
65474	NM_012106.4(ARL2BP):c.134T>G (p.Met45Arg)	ARL2BP	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
ARL2BP	Definitive	Autosomal recessive	retinitis pigmentosa with or without situs inversus	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ARL2BP	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
ARL2BP	HGNC:17146	ENSG00000102931	Q9Y2Y0	ADP-ribosylation factor-like protein 2-binding protein	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ARL2BP	ADP-ribosylation factor-like protein 2-binding protein	Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3.

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)
ARL2BP	Other/Unknown	no		BART_dom, ARL2BP, BART_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
adrenal tissue	1
ganglionic eminence	1
smooth muscle tissue	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ARL2BP	280	ubiquitous	marker	adrenal tissue, smooth muscle tissue, ganglionic eminence

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ARL2BP	904

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ARL2BP	Q9Y2Y0	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. 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
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane	1	951.7×	0.004	ARL2BP
Transport of vitamins, nucleosides, and related molecules	1	271.9×	0.007	ARL2BP
SLC-mediated transmembrane transport	1	59.2×	0.023	ARL2BP
Transport of small molecules	1	25.1×	0.040	ARL2BP

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
maintenance of protein location in nucleus	1	1123.5×	0.002	ARL2BP
positive regulation of tyrosine phosphorylation of STAT protein	1	732.7×	0.002	ARL2BP
signal transduction	1	16.1×	0.062	ARL2BP

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
ARL2BP	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	ARL2BP

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)
ARL2BP	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: ARL2BP