DNAJA2

Chr 16

DnaJ heat shock protein family (Hsp40) member A2

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

NCBI Gene: 10294 ENSG00000069345 OMIM: 611322

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.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.21

Clinical Summary— DNAJA2

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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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