Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
128989
Gene name Gene Name - the full gene name approved by the HGNC.
Transport and golgi organization 2 homolog
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TANGO2
Synonyms (NCBI Gene) Gene synonyms aliases
C22orf25, MECRCN
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616830 25439 ENSG00000183597
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Mental retardation recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome N/A N/A GenCC
Associations from Text Mining Disease 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