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GeneE
6 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.
TOGARAM1
TOG array regulator of axonemal microtubules 1
Chromosome 14 Β· 14q21.2
NCBI Gene: 23116Ensembl: ENSG00000198718.13HGNC: HGNC:19959UniProt: B4DHM7
19PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cilium assemblyidentical protein bindingprotein bindingciliumJoubert syndrome 37Joubert syndromeciliopathycholelithiasis
✦AI Summary

TOGARAM1 is a ciliary protein essential for regulating axonemal microtubule dynamics and ciliogenesis. As a member of the Crescerin family with TOG (TOG array regulator) domains, TOGARAM1 promotes microtubule polymerization and overcomes growth inhibition imposed by interacting ciliary tip proteins CEP104 and CSPP1, enabling slow and processive microtubule elongation characteristic of axonemal dynamics 1. TOGARAM1 regulates ciliary microtubule post-translational modifications, including acetylation and polyglutamylation, and controls cilium length 2. Dysfunction of TOGARAM1 causes Joubert syndrome 37, a recessive neurodevelopmental ciliopathy characterized by hindbrain malformation, resulting from reduced ciliary stability and decreased axonemal protein modifications 2. TOGARAM1 mutations also associate with neural tube closure defects; knockout mice display abnormal cilia, reduced sonic hedgehog signaling, and spina bifida, indicating critical roles in early neural development 3. Patient-derived fibroblasts with TOGARAM1 dysfunction show aberrant ciliary resorption and cold-induced depolymerization 2. Recent proteomic analysis identified TOGARAM1 among proteins with sex-specific associations in Alzheimer's disease cognitive trajectories, suggesting potential roles beyond ciliary function, though mechanistic details require further investigation 4.

Sources cited
1
TOGARAM1 overcomes growth inhibition by CEP104/CSPP1 to enable slow processive microtubule elongation in ciliary tips
PMID: 39856351
2
TOGARAM1 mutations cause Joubert syndrome and result in short cilia with decreased acetylation/polyglutamylation and aberrant ciliary stability
PMID: 32453716
3
TOGARAM1 is expressed in neural tube; knockout causes neural tube closure defects, abnormal cilia, and reduced sonic hedgehog signaling
PMID: 39385469
4
TOGARAM1 shows sex-specific association with cognitive trajectories in Alzheimer's disease proteome analysis
PMID: 40346727
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Joubert syndrome 37Open Targets
0.76Strong
Joubert syndromeOpen Targets
0.60Moderate
ciliopathyOpen Targets
0.44Moderate
cholelithiasisOpen Targets
0.28Weak
spondylolisthesisOpen Targets
0.22Weak
AlkalosisOpen Targets
0.19Weak
Brown syndromeOpen Targets
0.15Weak
Syndactyly type 2Open Targets
0.05Suggestive
anophthalmia plus syndromeOpen Targets
0.04Suggestive
synpolydactyly type 1Open Targets
0.04Suggestive
syndactyly type 4Open Targets
0.03Suggestive
polydactyly, postaxial, type A1Open Targets
0.03Suggestive
Tessier number 4 facial cleftOpen Targets
0.03Suggestive
influenza A (H1N1)Open Targets
0.03Suggestive
preeclampsiaOpen Targets
0.03Suggestive
diabetic ketoacidosisOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
spina bifida apertaOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
Johanson-Blizzard syndromeOpen Targets
0.01Suggestive
Joubert syndrome 37UniProt
Pathogenic Variants15
NM_001308120.2(TOGARAM1):c.942del (p.Gln314fs)Pathogenic
Joubert syndrome 37
β˜…β˜†β˜†β˜†2026β†’ Residue 314
NM_001308120.2(TOGARAM1):c.76del (p.Ser26fs)Likely pathogenic
Joubert syndrome 37
β˜…β˜†β˜†β˜†2023β†’ Residue 26
NM_001308120.2(TOGARAM1):c.3812+1delLikely pathogenic
Ciliopathy
β˜…β˜†β˜†β˜†2023
NM_001308120.2(TOGARAM1):c.4150C>T (p.Gln1384Ter)Likely pathogenic
Joubert syndrome 37
β˜…β˜†β˜†β˜†2022β†’ Residue 1384
NM_001308120.2(TOGARAM1):c.2329C>T (p.Gln777Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 777
NM_001308120.2(TOGARAM1):c.2338+1delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001308120.2(TOGARAM1):c.2338+3A>GLikely pathogenic
Joubert syndrome 37
β˜…β˜†β˜†β˜†2022
NM_001308120.2(TOGARAM1):c.2501_2504del (p.Ile834fs)Likely pathogenic
Joubert syndrome 37
β˜…β˜†β˜†β˜†2021β†’ Residue 834
NM_001308120.2:c.2339_3238delPathogenic
Joubert syndrome|Joubert syndrome 37
β˜…β˜†β˜†β˜†2020
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)Pathogenic
Joubert syndrome|Joubert syndrome 37
β˜…β˜†β˜†β˜†2020β†’ Residue 362
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)Pathogenic
Joubert syndrome|Joubert syndrome 37
β˜…β˜†β˜†β˜†2020β†’ Residue 368
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)Pathogenic
Joubert syndrome|Joubert syndrome 37
β˜…β˜†β˜†β˜†2020β†’ Residue 1083
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)Pathogenic
Joubert syndrome|Joubert syndrome 37
β˜…β˜†β˜†β˜†2020β†’ Residue 1311
NM_001308120.2(TOGARAM1):c.4969+2T>ALikely pathogenic
Joubert syndrome 37
β˜…β˜†β˜†β˜†
NM_001308120.2(TOGARAM1):c.3619C>T (p.Arg1207Ter)Pathogenic
Joubert syndrome 37
β˜†β˜†β˜†β˜†2021β†’ Residue 1207
View on ClinVar β†—
Related Genes
SPAG16Shared pathway40%TBC1D32Shared pathway33%C2CD3Shared pathway33%CEP104Co-mentioned in literature33%ARMC9Co-mentioned in literature33%CPLANE2Shared pathway29%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
83%
Brain
63%
Ovary
58%
Liver
31%
Lung
27%
Gene Interaction Network
Click a node to explore
TOGARAM1SPAG16TBC1D32C2CD3CEP104ARMC9CPLANE2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6P183
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.72LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.50–0.72]
RankingsWhere TOGARAM1 stands among ~20K protein-coding genes
  • #14,580of 20,598
    Most Researched19
  • #2,489of 5,498
    Most Pathogenic Variants15
  • #5,613of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedTOGARAM1
Sources retrieved6 papers
Response timeβ€”
πŸ“„ Sources
6β–Ό
1
Unraveling sex differences in Alzheimer's disease and related endophenotypes with brain proteomes.
PMID: 40346727
Alzheimers Dement Β· 2025
1.00
2
A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growth.
PMID: 39856351
Nat Struct Mol Biol Β· 2025
0.83
3
Biallelic mutations in the
PMID: 32747439
J Med Genet Β· 2021
0.67
4
A methylation-driven gene panel predicts survival in patients with colon cancer.
PMID: 34184409
FEBS Open Bio Β· 2021
0.50
5
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
PMID: 32453716
J Clin Invest Β· 2020
0.33