TANGO2

Chr 22

transport and golgi organization 2 homolog

Also known as: C22orf25, MECRCN

NCBI Gene: 128989ENSG00000183597UniProt: Q6ICL3

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMetabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
26
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — TANGO2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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 OE?0.51 (0.30–0.89)
0≤0.351.4
Missense OE?0.90 (0.79–1.03)
0≤0.61.4
Synonymous OE?0.82
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.

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