TANGO2 Chromosome 22
Transport and golgi organization 2 homolog
Upload your DNA to see your personal genotypes for variants in TANGO2.
What This Gene Does
This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000183597
Associated Conditions (12)
TANGO2-related disorder
Inborn genetic diseases
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Acute rhabdomyolysis
Intellectual disability
Cardiac arrhythmia
Episodic flaccid weakness
Seizure
Abnormality of metabolism/homeostasis
Metabolic crises with rhabdomyolysis
cardiac arrhythmias
and neurodegeneration
Key Variants
RS1328647913
Conflicting classifications of pathogenicity
Health Risk
RS138441779
Conflicting classifications of pathogenicity
TANGO2-related disorder, Inborn genetic diseases, TANGO2-related disorder
Health Risk
RS142149828
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2518903115
Conflicting classifications of pathogenicity
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Health Risk
RS545147497
Conflicting classifications of pathogenicity
Health Risk
RS771969240
Conflicting classifications of pathogenicity
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Health Risk
RS914146516
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057520382
Likely pathogenic
Health Risk
RS1471249671
Likely pathogenic
Health Risk
RS1602255030
Likely pathogenic
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Health Risk
RS2048401628
Likely pathogenic
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Acute rhabdomyolysis, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Health Risk
RS2147635738
Likely pathogenic
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1328647913 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138441779 | Health Risk | Conflicting classifications of pathogenicity | TANGO2-related disorder, Inborn genetic diseases, TANGO2-related disorder |
| RS142149828 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2518903115 | Health Risk | Conflicting classifications of pathogenicity | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS545147497 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771969240 | Health Risk | Conflicting classifications of pathogenicity | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS914146516 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057520382 | Health Risk | Likely pathogenic | — |
| RS1471249671 | Health Risk | Likely pathogenic | — |
| RS1602255030 | Health Risk | Likely pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS2048401628 | Health Risk | Likely pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Acute rhabdomyolysis, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS2147635738 | Health Risk | Likely pathogenic | — |
| RS2518822695 | Health Risk | Likely pathogenic | — |
| RS2518903706 | Health Risk | Likely pathogenic | — |
| RS1224979359 | Health Risk | Pathogenic | — |
| RS1314846403 | Health Risk | Pathogenic | — |
| RS140115503 | Health Risk | Pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS1453968760 | Health Risk | Pathogenic | — |
| RS1601975780 | Health Risk | Pathogenic | — |
| RS2147839517 | Health Risk | Pathogenic | — |
| RS2518523051 | Health Risk | Pathogenic | — |
| RS2518783144 | Health Risk | Pathogenic | — |
| RS2518826842 | Health Risk | Pathogenic | — |
| RS2518902732 | Health Risk | Pathogenic | — |
| RS372949028 | Health Risk | Pathogenic | Intellectual disability, Acute rhabdomyolysis, Cardiac arrhythmia |
| RS764883927 | Health Risk | Pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Metabolic crises with rhabdomyolysis, cardiac arrhythmias |
| RS1162037663 | Health Risk | Pathogenic/Likely pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS199801224 | Health Risk | Pathogenic/Likely pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS2046773175 | Health Risk | Pathogenic/Likely pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS2047264129 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519147386 | Health Risk | Pathogenic/Likely pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS367912276 | Health Risk | Pathogenic/Likely pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS752298579 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Acute rhabdomyolysis, Cardiac arrhythmia |
| RS780264323 | Health Risk | Pathogenic/Likely pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS869320693 | Health Risk | Pathogenic/Likely pathogenic | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |