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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of metabolism/homeostasis Likely pathogenic; Pathogenic rs372949028 RCV001836751
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute rhabdomyolysis Likely pathogenic; Pathogenic rs752298579, rs372949028, rs2048401628 RCV000210033
RCV000210035
RCV005865474
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac arrhythmia Likely pathogenic; Pathogenic rs752298579, rs372949028 RCV000210033
RCV000210035
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Episodic flaccid weakness Likely pathogenic; Pathogenic rs752298579, rs372949028 RCV000210033
RCV000210035
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alternating hemiplegia of childhood Alternating Hemiplegia BEFREE 30650451
★☆☆☆☆
Found in Text Mining only
Anemia, Macrocytic Anemia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 26805781, 26805782, 35691983 Associate
★☆☆☆☆
Found in Text Mining only
Brain atrophy Brain atrophy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 26805782 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Metabolic Brain disease Pubtator 35691983 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy CLINVAR_DG 26805781
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 26805782 Associate
★☆☆☆☆
Found in Text Mining only