TOMM5

protein-coding

translocase of outer mitochondrial membrane 5, the group of Translocase of outer mitochondrial membrane complex

Gene summary

Predicted to be involved in obsolete protein targeting to mitochondrion and protein insertion into mitochondrial outer membrane. Located in mitochondrion. Part of mitochondrial outer membrane translocase complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C9orf105

MANE transcript

NM_001001790.3

Inheritance

—

ClinVar variants

U:8B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr9:37,582,646-37,592,604

External References & Databases

Ensembl (ENSG00000175768)

Transcript & Mutation Effects

hg38 • Region Span ~10.0 kb

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GenCC 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 TOMM5 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 15

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001001790.3. 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				1 clinvar		1
missense			8 clinvar			8
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	8	1	0	9

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001001790.3	RefSeq	NP_001001790.1	2	MANE Select
ENST00000321301.7	Ensembl	ENSP00000313584.6	2	MANE Select
NM_001134484.2	RefSeq	NP_001127956.1	1	Standard
NM_001134485.2	RefSeq	NP_001127957.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of proteins
Pink/Parkin Mediated Mitophagy
Mitophagy
Mitochondrial protein import

Biological Process

protein targeting to mitochondrion

Molecular Function

protein transporter activity

Cellular Component

mitochondrion
mitochondrial outer membrane
mitochondrial outer membrane translocase complex
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000544379
Coding exons: 1
Length: 9997
Individuals with no LoFs: 124503
Homozygous LoFs: 0
Heterozygous LoFs: 9
Defined: 124512
p: 0.0000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.324	50	56.9	0.879	0.00000254	582
Missense (PolyPhen)		11	11.175	0.98437		96
Synonymous	-0.141	26	25.1	1.04	0.00000114	198
Loss of Function	1.29	0	1.93	0.00	8.03e-8	25

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.000030	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0.00050	0.00050	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0819

Intolerance Scores

RVIS EVS: 0.24
RVIS percentile EVS: 68.72

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.277

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium