TOGARAM1 Gene
TOG Array Regulator of Microtubule Dynamics 1
Gene Information Card
| Symbol | TOGARAM1 |
|---|---|
| Full Name | TOG Array Regulator of Microtubule Dynamics 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 123920 ncbi.nlm.nih.gov/gene/123920 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q5TZA2 |
| OMIM ID | 617618 |
| HGNC ID | 26258 |
| Aliases | C14orf106, FAM179B, TOGARAM1 |
Description
TOGARAM1 encodes a protein that regulates microtubule dynamics through its TOG (tumor overexpressed gene) arrays. It is involved in ciliary function and cell cycle progression. Mutations in this gene are associated with nephronophthisis-related ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 19 | Loss of ciliary function due to disrupted microtubule regulation | OMIM #617618; ClinVar pathogenic variants |
| Joubert syndrome 37 | Impaired ciliary signaling from TOGARAM1 mutations | OMIM #617618; literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Medium |
| Brain | 6.1 | Low |
| Lung | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 9.8 | Moderate expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.184C>T (p.Arg62*) | Nonsense | <0.01% | Loss of function; associated with nephronophthisis |
| c.1021G>A (p.Gly341Arg) | Missense | <0.01% | Likely damaging; reported in Joubert syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of microtubule-regulating function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding (GO:0008017) | • microtubule cytoskeleton organization (GO:0000226) |
| • cell projection organization (GO:0030030) | • cilium assembly (GO:0060271) |
Pathways
• Microtubule dynamics (Reactome R-HSA-983231)
• Cilium assembly (Reactome R-HSA-5620920)
Protein Summary
TOGARAM1 is a 1,234-amino-acid protein containing multiple TOG domains that bind tubulin and regulate microtubule polymerization. It localizes to the centrosome and ciliary base, playing a critical role in ciliogenesis and cell division.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOGARAM1 Knockout HEK293 Cell Line | EDJ-KQ15880 | Human | 23116 | Details Get a Quote |
| TOGARAM1 Knockout A-549 Cell Line | EDJ-KQ49099 | Human | 23116 | Details Get a Quote |
| TOGARAM1 Knockout HCT 116 Cell Line | EDJ-KQ49100 | Human | 23116 | Details Get a Quote |
| TOGARAM1 Knockout HeLa Cell Line | EDJ-KQ49101 | Human | 23116 | Details Get a Quote |
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