TIMM22

Chr 17AR

translocase of inner mitochondrial membrane 22

Also known as: COXPD43, TEX4, TIM22

Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]

OMIMResearchGenerating clinical summary…
DNmechanismARLOEUF 1.641 OMIM phenotype
Clinical SummaryTIMM22
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Gene-Disease Validity (ClinGen)
mitochondrial disease · ARLimited

Limited evidence — not for standalone diagnostic reporting

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.64LOEUF
pLI 0.000
Z-score 0.25
OE 0.90 (0.511.64)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.22Z-score
OE missense 1.06 (0.911.23)
125 obs / 118.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.90 (0.511.64)
00.351.4
Missense OE?1.06 (0.911.23)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 7 / 7.8Missense obs/exp: 125 / 118.3Syn Z: -0.47
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedTIMM22-related combined oxidative phosphorylation deficiencyOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.76top 25%
GOF
0.5856th %ile
LOF
0.3745th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TIMM22 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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