TANGO2
Transport and Golgi Organization 2 Homolog
Gene Information Card
| Symbol | TANGO2 |
|---|---|
| Full Name | Transport and Golgi Organization 2 Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 128989 ncbi.nlm.nih.gov/gene/128989 |
| Ensembl ID | ENSG00000183597 |
| UniProt ID | Q6ICL3 |
| OMIM ID | 616830 |
| HGNC ID | 25439 |
| Aliases | C22orf25, MGC12966, TANGO2 |
Description
TANGO2 encodes a protein involved in the maintenance of Golgi structure and trafficking, as well as mitochondrial function and fatty acid oxidation. Mutations in this gene cause TANGO2 deficiency, a disorder characterized by metabolic crises, encephalopathy, rhabdomyolysis, and cardiac arrhythmias.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| TANGO2 deficiency (metabolic encephalopathy, rhabdomyolysis, cardiac arrhythmias) | Loss-of-function mutations impair Golgi trafficking and mitochondrial fatty acid oxidation, leading to energy deficiency and cellular stress during metabolic stress | ClinVar, OMIM |
| Developmental delay and intellectual disability | Disrupted intracellular transport and mitochondrial dysfunction affect neuronal development and function | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 15.2 | Medium |
| Skeletal Muscle | 12.8 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Moderate expression |
| HeLa | 8.2 | Moderate expression |
| SH-SY5Y | 6.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.460C>T (p.Arg154*) | Nonsense | Rare | Loss of function, premature truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function, no protein translation |
| c.251_252delAG (p.Glu84Valfs*2) | Frameshift | Rare | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most TANGO2 mutations are loss-of-function, leading to reduced or absent protein activity.
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)
| • Golgi organization | • intracellular protein transport |
| • mitochondrial fatty acid beta-oxidation | • response to starvation |
Pathways
• Fatty acid metabolism
• Golgi vesicle transport
Protein Summary
The TANGO2 protein is a 242-amino acid protein localized to the Golgi apparatus and mitochondria. It is essential for maintaining Golgi structure and function, and for proper mitochondrial fatty acid oxidation. Loss of TANGO2 leads to cellular energy deficiency, particularly during metabolic stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TANGO2 Knockout HEK293 Cell Line | EDJ-KQ9206 | Human | 128989 | Details Get a Quote |
| TANGO2 Knockout A-549 Cell Line | EDJ-KQ35759 | Human | 128989 | Details Get a Quote |
| TANGO2 Knockout HCT 116 Cell Line | EDJ-KQ35760 | Human | 128989 | Details Get a Quote |
| TANGO2 Knockout HeLa Cell Line | EDJ-KQ35761 | Human | 128989 | Details Get a Quote |
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