Gene Gene information from NCBI Gene database.
Entrez ID 128989
Gene name Transport and golgi organization 2 homolog
Gene symbol TANGO2
Synonyms (NCBI Gene)
C22orf25MECRCN
Chromosome 22
Chromosome location 22q11.21
Summary 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
SNPs SNP information provided by dbSNP.
12
SNP ID Visualize variation Clinical significance Consequence
rs199801224 C>A,T Pathogenic Stop gained, 5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant
rs367912276 C>G Likely-pathogenic Intron variant
rs372949028 G>A,C Pathogenic, likely-pathogenic Non coding transcript variant, intron variant, splice donor variant
rs752298579 G>A Pathogenic Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs764883927 C>T Pathogenic Non coding transcript variant, coding sequence variant, intron variant, stop gained
miRNA miRNA information provided by mirtarbase database.
170
miRTarBase ID miRNA Experiments Reference
MIRT686734 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT686733 hsa-miR-6893-5p HITS-CLIP 23313552
MIRT686732 hsa-miR-940 HITS-CLIP 23313552
MIRT686731 hsa-miR-1827 HITS-CLIP 23313552
MIRT686730 hsa-miR-6089 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005737 Component Cytoplasm IDA 31276219
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IDA 32909282, 35197517, 36961129
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616830 25439 ENSG00000183597
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ICL3
Protein name Transport and Golgi organization protein 2 homolog
Protein function May be involved in lipid homeostasis.
PDB 8SV7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05742 TANGO2 1 259 Transport and Golgi organisation 2 Family
Sequence
Sequence length 276
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
91
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of metabolism/homeostasis Likely pathogenic; Pathogenic rs372949028 RCV001836751
Acute rhabdomyolysis Likely pathogenic; Pathogenic rs752298579, rs372949028, rs2048401628 RCV000210033
RCV000210035
RCV005865474
Cardiac arrhythmia Likely pathogenic; Pathogenic rs752298579, rs372949028 RCV000210033
RCV000210035
Episodic flaccid weakness Likely pathogenic; Pathogenic rs752298579, rs372949028 RCV000210033
RCV000210035
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
See cases Benign; Uncertain significance rs73389745, rs770262515 RCV002252697
RCV002252598
Thymoma Likely benign rs961902850 RCV005935029
Uterine corpus endometrial carcinoma Benign rs77399579 RCV005903923
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 26805781, 26805782, 35691983
Brain Diseases Associate 26805782
Brain Diseases Metabolic Associate 35691983
Cognition Disorders Associate 26805782
Heart Diseases Associate 26805781
Hyperammonemia Associate 26805781
Hypoglycemia Associate 26805781, 26805782
Metabolic Diseases Associate 37460236
Microphthalmia Syndromic 10 Associate 26805782
Muscle Weakness Associate 26805781