DNAJC11

Chr 1

DnaJ heat shock protein family (Hsp40) member C11

Also known as: dJ126A5.1

NCBI Gene: 55735 ENSG00000007923 OMIM: 614827

DNAJC11 encodes a protein required for mitochondrial inner membrane organization through its association with the MICOS complex and mitochondrial outer membrane sorting assembly machinery. Mutations cause autosomal recessive mitochondrial disorders affecting multiple organ systems. This gene is highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Involved in cristae formation. Located in MICOS complex; SAM complex; and nuclear speck. Part of MIB complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.24

Clinical Summary— DNAJC11

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

61 VUS of 86 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.24LOEUF

pLI 0.999

Z-score 5.07

OE 0.11 (0.05–0.24)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

1.85Z-score

OE missense 0.71 (0.64–0.80)

237 obs / 331.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.11 (0.05–0.24)

0≤0.351.4

Missense OE?0.71 (0.64–0.80)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 4 / 37.5Missense obs/exp: 237 / 331.7Syn Z: -0.38

ClinVar Variant Classifications

86 submitted variants in ClinVar

ClinVar

Classification Summary

VUS61

Likely Benign1

Benign3

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	61	0	0	61
Likely Benign	1	0	0	1
Benign	0	1	2	3
Total	62	1	2	65

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

58 pathogenic / likely-pathogenic (of 69) ClinVar copy-number / structural variants overlap DNAJC11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →