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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARMC9
armadillo repeat containing 9
Chromosome 2 Β· 2q37.1
NCBI Gene: 80210Ensembl: ENSG00000135931.19HGNC: HGNC:20730UniProt: A0A2Q3DP09
39PubMed Papers
21Diseases
0Drugs
48Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein bindingcentrioleciliary basal bodyJoubert syndromeJoubert syndrome 30VertigoIntellectual disability
✦AI Summary

ARMC9 is a basal body protein essential for primary cilia formation and function 1. It serves as a scaffolding component of the ciliary tip protein module, working alongside CEP104, CSPP1, TOGARAM1, and CCDC66 to regulate axonemal microtubule dynamics 2. ARMC9 is required for appropriate acetylation and polyglutamylation of ciliary microtubules and regulation of cilium length 1. It functions in hedgehog signaling through regulation of GLI2 and GLI3 proteins at the ciliary tip. ARMC9 physically interacts with the mitochondrial protein NDUFAF2, linking mitochondrial metabolism to cilia signaling; NAD+ supplementation restores ciliary function in ARMC9-deficient cells 3. Mutations in ARMC9 cause Joubert syndrome, a neurodevelopmental ciliopathy characterized by hindbrain malformation and multi-systemic involvement including eye, kidney, and liver pathology 4. ARMC9 variants also associate with vertigo risk through inner ear dysfunction 5. Patient-derived fibroblasts with ARMC9 dysfunction exhibit short cilia with decreased axonemal modifications and aberrant ciliary resorption 1. These findings establish ARMC9 as a critical ciliary protein linking structural organization to human neurological and sensory disorders.

Sources cited
1
ARMC9 is required for ciliary microtubule acetylation, polyglutamylation, and cilium length regulation; part of ciliary tip protein module
PMID: 32453716
2
ARMC9 functions as a scaffold in ciliary tip protein module affecting microtubule dynamics
PMID: 39856351
3
ARMC9 interacts with mitochondrial protein NDUFAF2; NAD+ supplementation rescues ciliary defects in ARMC9-deficient cells and zebrafish
PMID: 38949024
4
ARMC9 mutations cause Joubert syndrome with multi-systemic organ involvement including eye, kidney, and liver pathology
PMID: 36580738
5
ARMC9 cis-eQTL variants associate with vertigo risk through inner ear disease mechanisms
PMID: 34620984
6
ARMC9 mutations cause syndromic intellectual disability with ptosis, polydactyly, and Joubert syndrome features
PMID: 29159890
Disease Associationsβ“˜21
Joubert syndromeOpen Targets
0.77Strong
Joubert syndrome 30Open Targets
0.76Strong
VertigoOpen Targets
0.40Weak
Intellectual disabilityOpen Targets
0.37Weak
Dandy-Walker syndromeOpen Targets
0.32Weak
inner ear diseaseOpen Targets
0.26Weak
scoliosisOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
skin diseaseOpen Targets
0.18Weak
muscular diseaseOpen Targets
0.18Weak
diverticular diseaseOpen Targets
0.16Weak
diabetes mellitusOpen Targets
0.12Weak
Agenesis of corpus callosumOpen Targets
0.12Weak
melanomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.04Suggestive
obesityOpen Targets
0.04Suggestive
cutaneous melanomaOpen Targets
0.02Suggestive
ciliopathyOpen Targets
0.02Suggestive
neuroblastomaOpen Targets
0.02Suggestive
Joubert syndrome 30UniProt
Pathogenic Variants48
NM_001352754.2(ARMC9):c.1423dup (p.Thr475fs)Pathogenic
not provided|Joubert syndrome 30
β˜…β˜…β˜†β˜†2025β†’ Residue 475
NM_001352754.2(ARMC9):c.879G>A (p.Thr293=)Pathogenic
Joubert syndrome 30|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 293
NM_001352754.2(ARMC9):c.895C>T (p.Arg299Ter)Pathogenic
not provided|Joubert syndrome 30
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)Pathogenic
ARMC9-related Joubert syndrome|Joubert syndrome 30|not provided|Joubert syndrome|Dandy-Walker syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 343
NM_001352754.2(ARMC9):c.788_789del (p.Pro263fs)Pathogenic
not provided|Joubert syndrome 30
β˜…β˜…β˜†β˜†2024β†’ Residue 263
NM_001352754.2(ARMC9):c.178-2A>CLikely pathogenic
Joubert syndrome 30|not provided
β˜…β˜…β˜†β˜†2024
NM_001352754.2(ARMC9):c.1552-1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001352754.2(ARMC9):c.1102dup (p.Cys368fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 368
NM_001352754.2(ARMC9):c.1660G>T (p.Glu554Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 554
NM_001352754.2(ARMC9):c.51+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001352754.2(ARMC9):c.178-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001352754.2(ARMC9):c.178-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001352754.2(ARMC9):c.348+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001352754.2(ARMC9):c.1204_1210+5delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001352754.2(ARMC9):c.1551+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001352754.2(ARMC9):c.1878+1G>APathogenic
Joubert syndrome 30
β˜…β˜†β˜†β˜†2024
NM_001352754.2(ARMC9):c.1246C>T (p.Gln416Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 416
NM_001352754.2(ARMC9):c.1343dup (p.Gln449fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 449
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter)Pathogenic
ARMC9-related Joubert syndrome|Joubert syndrome 30|Joubert syndrome|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 87
NM_001352754.2(ARMC9):c.1515del (p.Val506fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 506
View on ClinVar β†—
Related Genes
TXNDC15Shared pathway100%CIBAR2Shared pathway50%CFAP184Shared pathway50%HYLS1Shared pathway50%LRRC45Shared pathway50%WDR90Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Lung
36%
Brain
32%
Heart
16%
Bone Marrow
15%
Liver
8%
Gene Interaction Network
Click a node to explore
ARMC9TXNDC15CIBAR2CFAP184HYLS1LRRC45WDR90
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7Z3E5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.67–0.97]
RankingsWhere ARMC9 stands among ~20K protein-coding genes
  • #10,277of 20,598
    Most Researched39
  • #1,377of 5,498
    Most Pathogenic Variants48
  • #9,280of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedARMC9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.
PMID: 38949024
J Clin Invest Β· 2024
1.00
2
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
PMID: 32453716
J Clin Invest Β· 2020
0.90
3
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
PMID: 36580738
Clin Neurol Neurosurg Β· 2023
0.80
4
A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo.
PMID: 34620984
Commun Biol Β· 2021
0.70
5
A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growth.
PMID: 39856351
Nat Struct Mol Biol Β· 2025
0.60