TOMM20
protein-codingtranslocase of outer mitochondrial membrane 20, the group of Small nucleolar RNA protein coding host genes|Translocase of outer mitochondrial membrane complex
Gene summary
Enables mitochondrion targeting sequence binding activity; protein-transporting ATPase activity; and unfolded protein binding activity. Involved in obsolete protein targeting to mitochondrion. Located in mitochondria-associated endoplasmic reticulum membrane contact site and mitochondrial outer membrane. Is active in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~19.5 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 TOMM20 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014765.3. 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 | 0 | |||||
| missense | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 11 | 0 | 0 | 11 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055580.1 | 5 | MANE Select | |
| Ensembl | ENSP00000355566.4 | 5 | MANE Select | |
| Ensembl | ENSP00000568287.1 | 3 | Standard | |
| Ensembl | ENSP00000568287.1 | 3 | Standard |
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
- response to muscle activity
- tRNA import into mitochondrion
- protein deubiquitination
- protein import into mitochondrial matrix
Molecular Function
- protein binding
- protein transmembrane transporter activity
- P-P-bond-hydrolysis-driven protein transmembrane transporter activity
- mitochondrion targeting sequence binding
- unfolded protein binding
Cellular Component
- mitochondrion
- mitochondrial outer membrane
- mitochondrial outer membrane translocase complex
- integral component of mitochondrial outer membrane
- mitochondria-associated endoplasmic reticulum membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000366607
- Coding exons
- 5
- Length
- 19601
- Individuals with no LoFs
- 125740
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 7
- Defined
- 125747
- p
- 0.0000278
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.58 | 37 | 75.5 | 0.490 | 0.00000332 | 940 |
| Missense (PolyPhen) | 4 | 13.253 | 0.30181 | 177 | ||
| Synonymous | 0.172 | 27 | 28.2 | 0.959 | 0.00000130 | 276 |
| Loss of Function | 1.70 | 4 | 9.71 | 0.412 | 4.42e-7 | 104 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000018 | 0.000018 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.119
Intolerance Scores
- LoFtool
- 0.426
- RVIS EVS
- 0.08
- RVIS percentile EVS
- 59.43
Essentials
- Essential (CRISPR)
- E
- Essential (gene trap)
- E
- Indispensability pred.
- E
- Indispensability score
- 0.988