TANGO2

Protein identityUniProt · HPA

UniProt accession

Q6ICL3

Gene

TANGO2

Ensembl

ENSG00000183597

Chromosome

22

Canonical length

276 aa

Protein class

Disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

276 residues, UniProt reviewed canonical sequence.

>Q6ICL3|TANGO2
     1  MCIIFFKFDP RPVSKNAYRL ILAANRDEFY SRPSKLADFW GNNNEILSGL DMEEGKEGGT
    61  WLGISTRGKL AALTNYLQPQ LDWQARGRGE LVTHFLTTDV DSLSYLKKVS MEGHLYNGFN
   121  LIAADLSTAK GDVICYYGNR GEPDPIVLTP GTYGLSNALL ETPWRKLCFG KQLFLEAVER
   181  SQALPKDVLI ASLLDVLNNE EAQLPDPAIE DQGGEYVQPM LSKYAAVCVR CPGYGTRTNT
   241  IILVDADGHV TFTERSMMDK DLSHWETRTY EFTLQS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TANGO2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

74 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TANGO2.

Disease | AllUniProt

Conditions TANGO2 is implicated in, by any mechanism.

• Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) MIM:616878

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 482 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
• Acute rhabdomyolysis
• Intellectual disability
• Cardiac arrhythmia
• Episodic flaccid weakness

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.89

gnomAD pLI

0

gnomAD missense Z

0.45

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• Golgi organization
• protein secretion

Cellular components

• cytoplasm
• cytosol
• Golgi apparatus
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Transport and Golgi organisation protein 2
• Transport and Golgi organisation 2

KeywordsUniProt

• Cytoplasm
• Golgi apparatus
• Mitochondrion
• Neurodegeneration