DNAJC19

Chr 3AR

DnaJ heat shock protein family (Hsp40) member C19

Also known as: PAM18, TIM14, TIMM14

NCBI Gene: 131118ENSG00000205981UniProt: Q96DA6OMIM: 608977

This mitochondrial co-chaperone forms a complex with prohibitins to regulate cardiolipin remodeling and is involved in ATP-dependent transport of proteins into the mitochondrial matrix. Autosomal recessive mutations cause 3-methylglutaconic aciduria type V, also known as dilated cardiomyopathy with ataxia syndrome, affecting cardiac and neurological systems. The gene shows relatively low constraint against loss-of-function variants (pLI 0.0006, LOEUF 1.3).

OMIMResearchSummary from RefSeq, OMIM, UniProt
DNmechanismARLOEUF 1.311 OMIM phenotype
Clinical Summary— DNAJC19
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Gene-Disease Validity (ClinGen)
3-methylglutaconic aciduria type 5 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.31LOEUF
pLI 0.001
Z-score 0.93
OE 0.66 (0.36–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.88Z-score
OE missense 0.69 (0.54–0.89)
44 obs / 63.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.66 (0.36–1.31)
0≤0.351.4
Missense OE0.69 (0.54–0.89)
0≤0.61.4
Synonymous OE0.96
0≤1.21.6
LoF obs/exp: 6 / 9.0Missense obs/exp: 44 / 63.7Syn Z: 0.15
DN
0.80top 10%
GOF
0.5562th %ile
LOF
0.2677th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

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

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DNAJC19 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Generation of a homozygous DNAJC19 knockout human embryonic stem cell line by CRISPR/Cas9 system.
Chen G et al.·Stem Cell Res
2024
Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.
Janz A et al.·Mol Metab
2024Open Access
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.
Al Tuwaijri A et al.·Mol Genet Genomic Med
2022Open Access
Targeting DNAJC19 overcomes tumor growth and lung metastasis in NSCLC by regulating PI3K/AKT signaling.
Zhou J et al.·Cancer Cell Int
2021Open Access
Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Janz A et al.·Stem Cell Res
2020
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients