TOGARAM2 Gene
TOG Array Regulator of Microtubule Dynamics 2
Gene Information Card
| Symbol | TOGARAM2 |
|---|---|
| Full Name | TOG array regulator of microtubule dynamics 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 123720 ncbi.nlm.nih.gov/gene/123720 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 618201 |
| HGNC ID | 26934 |
| Aliases | FAM179B, KIAA2018 |
Description
TOGARAM2 encodes a protein that regulates microtubule dynamics through its TOG (tumor overexpressed gene) array domains. It is involved in cytoskeletal organization and cell division. The gene is expressed in multiple tissues and has been implicated in neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and cortical malformations | Loss-of-function mutations disrupt microtubule regulation leading to impaired neuronal migration | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| SH-SY5Y | 8.7 | Neuronal cell line |
| HeLa | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of microtubule regulatory function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • regulation of microtubule polymerization |
| • cytoskeleton organization |
Pathways
• Microtubule dynamics regulation
Protein Summary
TOGARAM2 is a 1,234-amino-acid protein containing multiple TOG domains that bind tubulin and regulate microtubule polymerization. It is localized to the centrosome and mitotic spindle, playing a critical role in cell division and neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOGARAM2 Knockout HEK293 Cell Line | EDJ-KQ15881 | Human | 165186 | Details Get a Quote |
| TOGARAM2 Knockout HeLa Cell Line | EDJ-KQ49102 | Human | 165186 | Details Get a Quote |
| TOGARAM2 Knockout A-549 Cell Line | EDJ-KQ67375 | Human | 165186 | Details Get a Quote |
| TOGARAM2 Knockout HCT 116 Cell Line | EDJ-KQ75768 | Human | 165186 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
