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Atlas / Disease / CACNA1F-related retinopathy

CACNA1F-related retinopathy

disease
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Summary

CACNA1F-related retinopathy (MONDO:0700243) is a disease with 1 cohort gene.

At a glance

  • Cohort genes: 1
  • ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameCACNA1F-related retinopathy
Mondo IDMONDO:0700243
GARD0026392
Is cancer (heuristic)no

Also known as: CACNA1F-related retinopathy

Data availability: 2 ClinVar variants.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › CACNA1F-related retinopathy

Related subtypes (104): retinal dystrophies primarily involving Bruch’s membrane, vitreoretinal dystrophy, dystrophies primarily involving the retinal pigment epithelium, retinal dystrophy in systemic or cerebroretinal lipidoses, age-related macular degeneration, helicoid peripapillary chorioretinal degeneration, Sorsby fundus dystrophy, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, pigmented paravenous retinochoroidal atrophy, retinoschisis, autosomal dominant, retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, amaurosis-hypertrichosis syndrome, familial benign flecked retina, microcephaly and chorioretinopathy 1, ornithine aminotransferase deficiency, retinal degeneration-nanophthalmos-glaucoma syndrome, retinoschisis of fovea, Revesz syndrome, choroideremia, choroideremia-deafness-obesity syndrome, X-linked retinal dysplasia, X-linked retinoschisis, progressive bifocal chorioretinal atrophy, aceruloplasminemia, late-onset retinal degeneration, infantile cerebellar-retinal degeneration, progressive retinal dystrophy due to retinol transport defect, microcornea-myopic chorioretinal atrophy, retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies, macular degeneration, early-onset, cone-rod dystrophy, ectopia lentis-chorioretinal dystrophy-myopia syndrome, foveal hypoplasia-presenile cataract syndrome, MRCS syndrome, X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome, Leber congenital amaurosis, oligocone trichromacy, Oguchi disease, retinitis pigmentosa, hereditary macular dystrophy, RPE65-related recessive retinopathy, RPGR-related retinopathy, AIPL1-related retinopathy, RP2-related retinopathy, RDH5-related retinopathy, RLBP1-related retinopathy, LCA5-related retinopathy, ATF6-related retinopathy, RAB28-related retinopathy, FLVCR1-related retinopathy with or without ataxia, RPE65-related dominant retinopathy, GUCY2D retinopathy, PDE6A-related retinopathy, ELOVL4-related maculopathy, MAK-related retinopathy, KIZ-related retinopathy, TOPORS-related retinopathy, PRPF8-related retinopathy, RD3-related retinopathy, BEST1-related dominant retinopathy, BEST1-related recessive retinopathy, IMPG2-related recessive retinopathy, IMPG2-related dominant retinopathy, CACNA2D4-related retinopathy, CDHR1-related retinopathy, GUCA1A-related retinopathy, RHO-related retinopathy, SNRNP200-related dominant retinopathy, RDH12-related recessive retinopathy, RDH12-related dominant retinopathy, NMNAT1-related retinopathy, CNGA3-related retinopathy, EYS-related retinopathy, GNAT2-related retinopathy, IDH3B-related retinopathy, MERTK-related retinopathy, PRPF31-related retinopathy, GPR179-related retinopathy, GRM6-related retinopathy, ADAM9-related retinopathy, RP1-related recessive retinopathy, RP1-related dominant retinopathy, CERKL-related retinopathy, TRPM1-related retinopathy, CNGB1-related retinopathy, PCARE-related retinopathy, CNGA1-related retinopathy, ABCA4-related retinopathy, NYX-related retinopathy, retinal dystrophy, X-linked, Gardner-Hardcastle type, PDE6C-related retinopathy, PDE6G-related retinopathy, LRIT3-related retinopathy, IMPG1-related dominant retinopathy, IMPG1-related recessive retinopathy, TTLL5-related retinopathy, HGSNAT-related retinopathy, IMPDH1-related retinopathy, PRPH2-related retinopathy, PROM1-related retinopathy, KCNV2-related retinopathy, CRX-related retinopathy, REEP6-related retinopathy, SPATA7-related retinopathy

Subtypes (3): congenital stationary night blindness 2A, X-linked cone-rod dystrophy 3, Aland island eye disease

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

2 retrieved; paginated sample, class counts are floors:

1 pathogenic, 1 conflicting classifications of pathogenicity

ClinVarVariant (HGVS)GeneClassificationReview
4531324NM_001256789.3(CACNA1F):c.960_961insA (p.Leu321fs)CACNA1FPathogeniccriteria provided, single submitter
837992NM_001256789.3(CACNA1F):c.2777G>A (p.Arg926His)CACNA1FConflicting classifications of pathogenicitycriteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
CACNA1FOrphanet:178333Åland Islands eye disease
CACNA1FOrphanet:1872Cone rod dystrophy
CACNA1FOrphanet:714070Incomplete congenital stationary night blindness, Schubert-Bornschein type

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
CACNA1FHGNC:1393ENSG00000102001O60840Voltage-dependent L-type calcium channel subunit alpha-1Fclinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
CACNA1FVoltage-dependent L-type calcium channel subunit alpha-1FVoltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene exp…

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.

FamilyGenesFoldFDR
Ion channel1111.5×0.009

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
CACNA1FIon channelyesVDCCAlpha1, VDCC_L_a1su, Ion_trans_dom

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)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
granulocyte1
parotid gland1
right hemisphere of cerebellum1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
CACNA1F143tissue_specificmarkerparotid gland, granulocyte, right hemisphere of cerebellum

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
CACNA1F1,616

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
CACNA1FO6084067.46

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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 termCohort genesFoldFDRSample cohort genes
negative regulation of voltage-gated calcium channel activity13370.4×0.001CACNA1F
detection of light stimulus involved in visual perception1648.1×0.002CACNA1F
calcium ion import across plasma membrane1543.6×0.002CACNA1F
visual perception179.5×0.013CACNA1F

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
CACNA1FBEPRIDIL

Top cohort targets by molecule count

SymbolMoleculesMax phase
CACNA1F484

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
BEPRIDIL4CACNA1F
IMIPRAMINE4CACNA1F
HALOFANTRINE4CACNA1F
DROPERIDOL4CACNA1F
SAQUINAVIR4CACNA1F
DULOXETINE4CACNA1F
DIAZEPAM4CACNA1F
SERTINDOLE4CACNA1F
QUINIDINE4CACNA1F
LAMIVUDINE4CACNA1F
PIMOZIDE4CACNA1F
PHENYTOIN4CACNA1F
TERFENADINE4CACNA1F
CISAPRIDE4CACNA1F
SOLIFENACIN4CACNA1F
NIFEDIPINE4CACNA1F
DILTIAZEM4CACNA1F
NILOTINIB4CACNA1F
ASTEMIZOLE4CACNA1F
TERODILINE4CACNA1F
CLOZAPINE4CACNA1F
MIBEFRADIL4CACNA1F
DOFETILIDE4CACNA1F
THIORIDAZINE4CACNA1F
PAROXETINE4CACNA1F
DONEPEZIL4CACNA1F
IBUTILIDE4CACNA1F
SUNITINIB4CACNA1F
HALOPERIDOL4CACNA1F
DASATINIB4CACNA1F

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
CACNA1F221Binding:135, Functional:79, Toxicity:5, ADMET:2

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
CACNA1F221

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

30 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.

CompoundMax phaseCohort target (bioactivity)
BEPRIDIL4CACNA1F
IMIPRAMINE4CACNA1F
HALOFANTRINE4CACNA1F
DROPERIDOL4CACNA1F
SAQUINAVIR4CACNA1F
DULOXETINE4CACNA1F
DIAZEPAM4CACNA1F
SERTINDOLE4CACNA1F
QUINIDINE4CACNA1F
LAMIVUDINE4CACNA1F
PIMOZIDE4CACNA1F
PHENYTOIN4CACNA1F
TERFENADINE4CACNA1F
CISAPRIDE4CACNA1F
SOLIFENACIN4CACNA1F
NIFEDIPINE4CACNA1F
DILTIAZEM4CACNA1F
NILOTINIB4CACNA1F
ASTEMIZOLE4CACNA1F
TERODILINE4CACNA1F
CLOZAPINE4CACNA1F
MIBEFRADIL4CACNA1F
DOFETILIDE4CACNA1F
THIORIDAZINE4CACNA1F
PAROXETINE4CACNA1F
DONEPEZIL4CACNA1F
IBUTILIDE4CACNA1F
SUNITINIB4CACNA1F
HALOPERIDOL4CACNA1F
DASATINIB4CACNA1F

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1CACNA1F
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 65

This page pulls from 65 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromeshmimmondomondochildmondoparentorphanetpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureuniprot