TOMM70
protein-codingtranslocase of outer mitochondrial membrane 70, the group of Translocase of outer mitochondrial membrane complex|Tetratricopeptide repeat domain containing
Gene summary
This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. The protein interacts with the SARS-CoV and SARS-Cov-2 ORF9b proteins. [provided by RefSeq, Dec 2021]
- TOMM70A
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~37.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0000732
Submitter: Ambry Genetics
Inheritance Pattern: AR
Disease ID:MONDO:0044970
Submitter: PanelApp Australia
Inheritance Pattern: AD
Disease ID:MONDO:0005071
Submitter: Ambry Genetics
Inheritance Pattern: AD
Disease ID:MONDO:0019046
Submitter: PanelApp Australia
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TOMM70 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014820.5. 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 | 1 | 2 | 3 | |||
| missense | 15 | 1 | 16 | |||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 19 | 1 | 2 | 22 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055635.3 | 12 | MANE Select | |
| Ensembl | ENSP00000284320.5 | 12 | MANE Select | |
| Ensembl | ENSP00000576343.1 | 11 | Standard | |
| Ensembl | ENSP00000576343.1 | 11 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| tomm70a | Danio rerio | Structure: cardiac muscle cell Quality: increased size abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Post-translational protein modification
- Metabolism of proteins
- Pink/Parkin Mediated Mitophagy
- Mitophagy
- Ub-specific processing proteases
Biological Process
- protein targeting to mitochondrion
- protein transmembrane transport
Molecular Function
- protein binding
- protein transmembrane transporter activity
Cellular Component
- mitochondrion
- mitochondrial outer membrane
- mitochondrial outer membrane translocase complex
- membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000284320
- Coding exons
- 12
- Length
- 37968
- Individuals with no LoFs
- 125662
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 56
- Defined
- 125718
- p
- 0.000223
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.92 | 221 | 317 | 0.697 | 0.0000152 | 3983 |
| Missense (PolyPhen) | 55 | 115.42 | 0.47652 | 1405 | ||
| Synonymous | 0.861 | 106 | 118 | 0.899 | 0.00000607 | 1125 |
| Loss of Function | 4.75 | 3 | 32.0 | 0.0937 | 0.00000160 | 394 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0014 | 0.0014 | notable |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0.00020 | 0.000099 | rare |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.000093 | 0.000092 | rare |
| European (Non-Finnish) | 0.00024 | 0.00024 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Receptor that accelerates the import of all mitochondrial precursor proteins. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.130
Intolerance Scores
- RVIS EVS
- -0.45
- RVIS percentile EVS
- 24
Essentials
- Essential (gene trap)
- E