DNAJA2

Chr 16

DnaJ heat shock protein family (Hsp40) member A2

Also known as: CPR3, DJ3, DJA2, DNAJ, DNJ3, HIRIP4, PRO3015, RDJ2

The protein functions as a co-chaperone that stimulates Hsc70 ATPase activity and assists in protein folding and mitochondrial protein import. Mutations cause spastic paraplegia-59, an autosomal recessive disorder characterized by progressive spasticity primarily affecting the lower limbs. This gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.21), indicating that protein function is critical for normal development.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.21
Clinical SummaryDNAJA2
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.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.21LOEUF
pLI 0.998
Z-score 4.20
OE 0.04 (0.010.21)
Highly constrained

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

Missense Constraint
2.48Z-score
OE missense 0.55 (0.470.63)
131 obs / 238.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.04 (0.010.21)
00.351.4
Missense OE0.55 (0.470.63)
00.61.4
Synonymous OE1.00
01.21.6
LoF obs/exp: 1 / 22.5Missense obs/exp: 131 / 238.8Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DNAJA2 · 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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