DNAJC2

Chr 7

DnaJ heat shock protein family (Hsp40) member C2

Also known as: MPHOSPH11, MPP11, ZRF1, ZUO1

The protein functions as a molecular chaperone that assists nascent polypeptide folding at ribosomes in the cytosol and regulates chromatin by displacing polycomb repressor complexes in the nucleus. Mutations cause spastic paraplegia with intellectual disability through autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.29
Clinical SummaryDNAJC2
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.29LOEUF
pLI 0.991
Z-score 5.03
OE 0.15 (0.080.29)
Highly constrained

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

Missense Constraint
1.52Z-score
OE missense 0.76 (0.680.84)
234 obs / 309.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.15 (0.080.29)
00.351.4
Missense OE0.76 (0.680.84)
00.61.4
Synonymous OE0.93
01.21.6
LoF obs/exp: 6 / 40.6Missense obs/exp: 234 / 309.2Syn Z: 0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DNAJC2 · 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

No active trials found for this gene.

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Clinical Literature
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