TANGO2

Chr 22AR

transport and golgi organization 2 homolog

Also known as: C22orf25, MECRCN

NCBI Gene: 128989ENSG00000183597UniProt: Q6ICL3OMIM: 616830

The TANGO2 protein is involved in lipid homeostasis and predicted to function in secretory protein loading in the endoplasmic reticulum. Biallelic mutations cause metabolic encephalomyopathic crises with recurrent rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, inherited in an autosomal recessive pattern. This multisystem disorder affects muscle, brain, and cardiac function with episodic metabolic crises.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.891 OMIM phenotype
Clinical Summary— TANGO2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.89LOEUF
pLI 0.000
Z-score 1.92
OE 0.51 (0.30–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.45Z-score
OE missense 0.90 (0.79–1.03)
152 obs / 168.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.51 (0.30–0.89)
0≤0.351.4
Missense OE0.90 (0.79–1.03)
0≤0.61.4
Synonymous OE0.82
0≤1.21.6
LoF obs/exp: 9 / 17.7Missense obs/exp: 152 / 168.4Syn Z: 1.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TANGO2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.
Sabbagh Q et al.·Neurol Genet
2026
Paroxysmal neurological spells in TANGO2 deficiency disorder: a case report and a scoping review.
Turco EC et al.·Front Pediatr
2026Review
The crystal structure of human transport and Golgi organization 2 homolog (TANGO2) suggests a cysteine N-terminal nucleophile (Ntn) hydrolase.
Zhou D et al.·Acta Crystallogr D Struct Biol
2026Open Access
Cross-species evaluation of TANGO2 homologs, including HRG-9 and HRG-10 in Caenorhabditis elegans, challenges a proposed role in heme trafficking.
Sandkuhler SE et al.·Elife
2026Open Access
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.
Airoldi M et al.·Biomolecules
2025Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients