TANGO6
protein-codingtransport and golgi organization 6 homolog, the group of Armadillo like helical domain containing
Gene summary
Predicted to be involved in protein secretion. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
- TMCO7
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~241.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TANGO6 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_024562.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | 2 | 6 | |||
| missense | 162 | 8 | 170 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 169 | 10 | 0 | 179 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_078838.1 | 18 | MANE Select | |
| Ensembl | ENSP00000261778.1 | 18 | MANE Select | |
| Ensembl | ENSP00000463426.1 | 1 | Standard | |
| Ensembl | ENSP00000462846.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000261778
- Coding exons
- 18
- Length
- 241577
- Individuals with no LoFs
- 124572
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 91
- Defined
- 124663
- p
- 0.000365
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.451 | 538 | 568 | 0.947 | 0.0000297 | 7024 |
| Missense (PolyPhen) | 114 | 119.93 | 0.95056 | 1503 | ||
| Synonymous | 0.344 | 221 | 228 | 0.971 | 0.0000126 | 2229 |
| Loss of Function | 2.56 | 29 | 48.2 | 0.602 | 0.00000236 | 612 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00060 | 0.00058 | rare |
| Latino/Admixed American | 0.00021 | 0.00020 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00039 | 0.00039 | rare |
| Finnish | 0.00019 | 0.00019 | rare |
| European (Non-Finnish) | 0.00030 | 0.00030 | rare |
| South Asian | 0.00098 | 0.00095 | rare |
| Other | 0.00017 | 0.00017 | rare |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0738
Intolerance Scores
- RVIS EVS
- -0.01
- RVIS percentile EVS
- 52.35
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- E
- Essential (gene trap)
- E
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |