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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 ... See more...
Aliases for TANGO2 Gene
Aliases for TANGO2 Gene
External Ids for TANGO2 Gene
- HGNC: 25439
- Entrez Gene: 128989
- Ensembl: ENSG00000183597
- OMIM: 616830
- UniProtKB: Q6ICL3
Previous HGNC Symbols for TANGO2 Gene
- C22orf25
Previous GeneCards Identifiers for TANGO2 Gene
- GC22P020005
Summaries for TANGO2 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]
GeneCards Summary for TANGO2 Gene
TANGO2 (Transport And Golgi Organization 2 Homolog) is a Protein Coding gene. Diseases associated with TANGO2 include Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration and Cardiac Arrhythmia.
Additional gene information for TANGO2 Gene
- HGNC(25439)
- Entrez Gene(128989)
- Ensembl(ENSG00000183597)
- OMIM(616830)
- UniProtKB(Q6ICL3)
- Open Targets Platform(ENSG00000183597)
- Monarch Initiative
- Search for TANGO2 at DataMed
- Search for TANGO2 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TANGO2 Gene
Genomics for TANGO2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TANGO2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TANGO2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TANGO2
Genomic Locations for TANGO2 Gene
Genomic Locations for TANGO2 Gene
- chr22:20,017,000-20,067,164
- (GRCh38/hg38)
- Size:
- 50,165 bases
- Orientation:
- Plus strand
- chr22:20,004,537-20,053,449
- (GRCh37/hg19)
- Size:
- 48,913 bases
- Orientation:
- Plus strand
Genomic View for TANGO2 Gene
Genes around TANGO2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.21 by HGNC
- 22q11.21 by Entrez Gene
- 22q11.21 by Ensembl
TANGO2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TANGO2 Gene
Proteins for TANGO2 Gene
-
Protein details for TANGO2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6ICL3-TNG2_HUMAN
- Recommended name:
- Transport and Golgi organization protein 2 homolog
- Protein Accession:
- Q6ICL3
- A8MUE9
- B7WNV6
- B7Z583
- B7Z730
- D3DX23
- Q8IW05
- Q8NAL0
- Q8TCS0
- Q96M16
Protein attributes for TANGO2 Gene
- Size:
- 276 amino acids
- Molecular mass:
- 30937 Da
- Quaternary structure:
- No Data Available
Protein Expression for TANGO2 Gene
Post-translational modifications for TANGO2 Gene
Other Protein References for TANGO2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011528165.1
- XP_011528167.1
- XP_011528169.1
- XP_016884066.1
- XP_016884067.1
- XP_016884068.1
- XP_016884069.1
- XP_016884070.1
- XP_016884071.1
- XP_016884072.1
- XP_016884073.1
- XP_016884074.1
- XP_016884075.1
- XP_016884076.1
- XP_016884077.1
- XP_024307925.1
- NP_001270035.1
- NP_001270045.1
- NP_001270058.1
- NP_001270077.1
- NP_001270083.1
- NP_001270108.1
- NP_001270115.1
- NP_001270128.1
- NP_001270144.1
- NP_001270164.1
- NP_001270177.1
- NP_001309070.1
- NP_001309071.1
- NP_001309072.1
- NP_001309073.1
- NP_001309074.1
- NP_001309075.1
- NP_001309076.1
- NP_001309077.1
- NP_001309078.1
- NP_001309079.1
- NP_001309082.1
- NP_001309084.1
- NP_001309089.1
- NP_001309092.1
- NP_001309095.1
- NP_001309096.1
- NP_001309098.1
- NP_001309100.1
- NP_001309101.1
- NP_001309102.1
- NP_001309103.1
- NP_001309104.1
- NP_690870.3
Antibody Products
- HUABIO Anti-C22orf25 Antibody
- Novus Biologicals Antibodies for TANGO2
-
Abcam antibodies for TANGO2
- Invitrogen Antibodies for TANGO2 (AFLGC-TANGO2)
- antibodies-online: Show 3 available C22orf25 Antibodies ranked by validation data
- Sino Biological Antibodies for TANGO2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TANGO2
- Origene Custom Protein Services for TANGO2
- Novus Biologicals proteins for TANGO2
No data available for DME Specific Peptides for TANGO2 Gene
Domains & Families for TANGO2 Gene
Gene Families for TANGO2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for TANGO2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ78955, highly similar to Ser/Thr-rich protein T10 in DGCR region (B7WNV6_HUMAN)
- cDNA FLJ50702, moderately similar to Ser/Thr-rich protein T10 in DGCR region (B7Z6W2_HUMAN)
- cDNA FLJ51964, highly similar to Ser/Thr-rich protein T10 in DGCR region (B7Z730_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6ICL3- Family:
-
- Belongs to the Tango2 family.
Function for TANGO2 Gene
Phenotypes From GWAS Catalog for TANGO2 Gene
Phenotypes for TANGO2 Gene
- GenomeRNAi human phenotypes for TANGO2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TANGO2 - Select products 50% OFF >
- * TANGO2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TANGO2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TANGO2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TANGO2
miRNA for TANGO2 Gene
- miRTarBase miRNAs that target TANGO2
-
- hsa-miR-4459 (MIRT453035)
- hsa-miR-887-5p (MIRT453036)
- hsa-miR-6779-5p (MIRT453037)
- hsa-miR-6780a-5p (MIRT453038)
- hsa-miR-3689c (MIRT453039)
- hsa-miR-3689b-3p (MIRT453040)
- hsa-miR-3689a-3p (MIRT453041)
- hsa-miR-30b-3p (MIRT453042)
- hsa-miR-1273h-5p (MIRT453043)
- hsa-miR-6788-5p (MIRT453044)
- hsa-miR-30c-2-3p (MIRT453045)
- hsa-miR-30c-1-3p (MIRT453046)
- hsa-miR-1273e (MIRT453047)
- hsa-miR-203b-3p (MIRT453048)
- hsa-miR-7158-3p (MIRT453049)
- hsa-miR-486-3p (MIRT453050)
- hsa-miR-6799-5p (MIRT453051)
- hsa-miR-6883-5p (MIRT453052)
- hsa-miR-6785-5p (MIRT453053)
- hsa-miR-4728-5p (MIRT453054)
- hsa-miR-149-3p (MIRT453055)
- hsa-miR-7106-5p (MIRT453056)
- hsa-miR-25-5p (MIRT453057)
- hsa-miR-658 (MIRT453058)
- hsa-miR-6087 (MIRT453059)
- hsa-miR-4722-5p (MIRT453060)
- hsa-miR-4768-3p (MIRT453061)
- hsa-miR-219b-3p (MIRT453062)
- hsa-miR-302f (MIRT453063)
- hsa-miR-455-3p (MIRT526802)
- hsa-miR-519e-5p (MIRT526803)
- hsa-miR-6077 (MIRT526804)
- hsa-miR-515-5p (MIRT526805)
- hsa-miR-5695 (MIRT526806)
- hsa-miR-7-5p (MIRT526807)
- hsa-miR-519d-5p (MIRT526808)
- hsa-miR-7853-5p (MIRT526809)
- hsa-miR-454-5p (MIRT526810)
- hsa-miR-105-5p (MIRT526811)
- hsa-miR-548b-3p (MIRT526812)
- hsa-miR-652-5p (MIRT526813)
- hsa-miR-6736-5p (MIRT607569)
- hsa-miR-4701-3p (MIRT607570)
- hsa-miR-1262 (MIRT607571)
- hsa-miR-7703 (MIRT607572)
- hsa-miR-6720-5p (MIRT607573)
- hsa-miR-6512-3p (MIRT607574)
- hsa-miR-1227-3p (MIRT607575)
- hsa-miR-542-3p (MIRT607576)
- hsa-miR-661 (MIRT607577)
- hsa-miR-4696 (MIRT607578)
- hsa-miR-6776-5p (MIRT607579)
- hsa-miR-4793-3p (MIRT607580)
- hsa-miR-766-3p (MIRT607581)
- hsa-miR-372-5p (MIRT607582)
- hsa-miR-371a-5p (MIRT607583)
- hsa-miR-616-5p (MIRT607584)
- hsa-miR-373-5p (MIRT607585)
- hsa-miR-371b-5p (MIRT607586)
- hsa-miR-6742-3p (MIRT607587)
- hsa-miR-6827-3p (MIRT607588)
- hsa-miR-340-3p (MIRT607589)
- hsa-miR-6849-3p (MIRT607590)
- hsa-miR-1273g-3p (MIRT607591)
- hsa-miR-6501-3p (MIRT607592)
- hsa-miR-3613-3p (MIRT607593)
- hsa-miR-451b (MIRT607594)
- hsa-miR-508-5p (MIRT607595)
- hsa-miR-4432 (MIRT607596)
- hsa-miR-6513-5p (MIRT686722)
- hsa-miR-3913-5p (MIRT686723)
- hsa-miR-3122 (MIRT686724)
- hsa-miR-450a-1-3p (MIRT686725)
- hsa-miR-197-3p (MIRT686726)
- hsa-miR-3165 (MIRT686727)
- hsa-miR-4736 (MIRT686728)
- hsa-miR-3665 (MIRT686729)
- hsa-miR-6089 (MIRT686730)
- hsa-miR-1827 (MIRT686731)
- hsa-miR-940 (MIRT686732)
- hsa-miR-6893-5p (MIRT686733)
- hsa-miR-6808-5p (MIRT686734)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TANGO2
- Browse OriGene Inhibitory RNA Products For TANGO2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TANGO2
Clone Products
- Applied Biological Materials (abm): Clones for TANGO2 - Select products 50% OFF >
- * TANGO2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG201075
- MG217765
- MR201075
- MR201075L3
- MR201075L4
- MR217765
- MR217765L3
- MR217765L4
- RC207236
- RC207236L1
- RC207236L2
- RC207236L3
- RC207236L4
- RC235661
- RC236308
- RC236497
- RC236523
- RC236625
- RC236626
- RC236949
- RC236950
- RC237097
- RC237098
- RC237412
- RG207236
- RR213345
- RR213345L3
- RR213345L4
- MR201075L3V
- MR201075L4V
- MR217765L3V
- MR217765L4V
- RC207236L1V
- RC207236L2V
- RC207236L3V
- RC207236L4V
- RR213345L3V
- RR213345L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TANGO2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TANGO2
Cell Line Products
-
Horizon Cell Lines for TANGO2
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TANGO2 Gene
Localization for TANGO2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TANGO2 Gene
- Golgi apparatus.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005794 | Golgi apparatus | IBA,IDA | 26805781 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TANGO2 Gene
Pathways & Interactions for TANGO2 Gene
Interacting Proteins for TANGO2 Gene
GPS-Prot Interaction Network for TANGO2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007030 | Golgi organization | IBA | 21873635 |
| GO:0009306 | protein secretion | IBA | 21873635 |
No data available for Pathways by source and SIGNOR curated interactions for TANGO2 Gene
Transcripts for TANGO2 Gene
mRNA/cDNA for TANGO2 Gene
- 34 REFSEQ mRNAs :
- 39 NCBI additional mRNA sequence :
- 26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000327374 3509 nts (view in UCSC)
- ENST00000398042 2011 nts (view in UCSC)
- ENST00000399807 2241 nts (view in UCSC)
- ENST00000401833 1920 nts (view in UCSC)
- ENST00000401886 1559 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TANGO2 - Select products 50% OFF >
- * TANGO2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TANGO2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TANGO2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TANGO2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TANGO2
- Browse OriGene Inhibitory RNA Products For TANGO2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TANGO2
Clone Products
- Applied Biological Materials (abm): Clones for TANGO2 - Select products 50% OFF >
- * TANGO2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG201075
- MG217765
- MR201075
- MR201075L3
- MR201075L4
- MR217765
- MR217765L3
- MR217765L4
- RC207236
- RC207236L1
- RC207236L2
- RC207236L3
- RC207236L4
- RC235661
- RC236308
- RC236497
- RC236523
- RC236625
- RC236626
- RC236949
- RC236950
- RC237097
- RC237098
- RC237412
- RG207236
- RR213345
- RR213345L3
- RR213345L4
- MR201075L3V
- MR201075L4V
- MR217765L3V
- MR217765L4V
- RC207236L1V
- RC207236L2V
- RC207236L3V
- RC207236L4V
- RR213345L3V
- RR213345L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TANGO2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TANGO2
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - |
Relevant External Links for TANGO2 Gene
- GeneLoc Exon Structure for
- TANGO2
Expression for TANGO2 Gene
mRNA differential expression in normal tissues according to GTEx for TANGO2 Gene
This gene is overexpressed in Whole Blood (x5.7).
This gene is overexpressed in Spleen (9.8), Peripheral blood mononuclear cells (9.4), and Platelet (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TANGO2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TANGO2
SOURCE GeneReport for Unigene cluster for TANGO2 Gene:
Hs.474233Evidence on tissue expression from TISSUES for TANGO2 Gene
- Nervous system(4.7)
- Heart(2.2)
- Muscle(2.2)
Primer Products
-
OriGene qPCR primer pairs for TANGO2
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TANGO2 Gene
Orthologs for TANGO2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TANGO2 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TANGO2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TANGO2 30 31 31 |
|
OneToMany | |
| Mouse (Mus musculus) |
Mammalia | Tango2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tango2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | TANGO2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TANGO2 31 |
|
OneToOne | |
| C15H22ORF25 30 |
|
||||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tango2 30 |
|
||
| Str.20456 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68627 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tango2 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8435 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002962 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Tango2 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | R186.1 30 31 |
|
OneToMany | |
| Y80D3A.9 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G38260 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os09g0323500 30 |
|
- Species where no ortholog for TANGO2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for TANGO2 Gene
- ENSEMBL:
- Gene Tree for TANGO2 (if available)
- TreeFam:
- Gene Tree for TANGO2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TANGO2: view image
Paralogs for TANGO2 Gene
(1) SIMAP similar genes for TANGO2 Gene using alignment to 11 proteins:
- TNG2_HUMAN
- A8MWT1_HUMAN
- B7WNV6_HUMAN
- B7Z583_HUMAN
- B7Z6W2_HUMAN
- B7Z730_HUMAN
- C9J695_HUMAN
- C9JC99_HUMAN
- C9JDT9_HUMAN
- C9JKN2_HUMAN
- F8WDT9_HUMAN
No data available for Paralogs for TANGO2 Gene
Variants for TANGO2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TANGO2 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 672143 | Benign: not provided | 20,043,226(+) | C/A | INTRON_VARIANT | |
| 672144 | Benign: not provided | 20,043,493(+) | G/C | INTRON_VARIANT | |
| 672145 | Benign: not provided | 20,043,579(+) | G/A | INTRON_VARIANT | |
| 672502 | Benign: not provided | 20,052,697(+) | C/T | INTRON_VARIANT | |
| 673860 | Likely Benign: not provided | 20,037,002(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4479n100 | CNV | loss | 25217958 |
| dgv72n68 | CNV | loss | 17160897 |
| dgv7983n54 | CNV | gain | 21841781 |
| dgv7985n54 | CNV | loss | 21841781 |
| esv2658430 | CNV | deletion | 23128226 |
| esv2758825 | CNV | loss | 17122850 |
| esv3647284 | CNV | gain | 21293372 |
| esv3647285 | CNV | loss | 21293372 |
| esv3647286 | CNV | loss | 21293372 |
| esv3893434 | CNV | gain | 25118596 |
| nsv1056768 | CNV | loss | 25217958 |
| nsv3560 | CNV | insertion | 18451855 |
| nsv433325 | CNV | loss | 18776910 |
| nsv469641 | CNV | loss | 16826518 |
| nsv471183 | CNV | loss | 18288195 |
| nsv473218 | CNV | novel sequence insertion | 20440878 |
| nsv521042 | CNV | loss | 19592680 |
| nsv588243 | CNV | loss | 21841781 |
| nsv588246 | CNV | loss | 21841781 |
| nsv588247 | CNV | loss | 21841781 |
| nsv828938 | CNV | gain | 20364138 |
| nsv828939 | CNV | loss | 20364138 |
| nsv834133 | CNV | loss | 17160897 |
| nsv953026 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.73;
46.63% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TANGO2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TANGO2 Gene
Disorders for TANGO2 Gene
(11) MalaCards diseases for TANGO2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration |
|
|
| cardiac arrhythmia |
|
|
| hereditary episodic ataxia |
|
|
| episodic ataxia |
|
|
| visual epilepsy |
|
|
Search TANGO2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TNG2_HUMAN- Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) [MIM:616878]: An autosomal recessive disorder characterized by metabolic encephalomyopathic crises, hypoglycemia, hyperammonemia, episodic rhabdomyolysis, susceptibility to life-threatening cardiac tachyarrhythmias, developmental delay, mental retardation, and mild diffuse cerebral atrophy. {ECO:0000269 PubMed:26805781, ECO:0000269 PubMed:26805782}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TANGO2
No data available for Genatlas for TANGO2 Gene
Publications for TANGO2 Gene
- Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. (PMID: 26805781) Lalani SR … Yang Y (American journal of human genetics 2016) 2 3 4
- Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. (PMID: 26805782) Kremer LS … Haack TB (American journal of human genetics 2016) 2 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
ExternalLinks
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