DNAJA4

Chr 15

DnaJ heat shock protein family (Hsp40) member A4

Also known as: MST104, MSTP104, PRO1472

NCBI Gene: 55466 ENSG00000140403 UniProt: Q8WW22

Enables protein-folding chaperone binding activity and unfolded protein binding activity. Involved in several processes, including negative regulation of endothelial cell migration; negative regulation of inclusion body assembly; and protein refolding. Located in cytosol and membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.71

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.71LOEUF

pLI 0.002

Z-score 2.52

OE 0.40 (0.23–0.71)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.94Z-score

OE missense 0.83 (0.74–0.93)

200 obs / 240.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.40 (0.23–0.71)

0≤0.351.4

Missense OE?0.83 (0.74–0.93)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 8 / 20.2Missense obs/exp: 200 / 240.8Syn Z: -0.32

Background carrier burden — how many people carry a rare variant somewhere in DNAJA4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

601 rare PASS variants

Rare truncating (LoF)

1 in 1,200

109 rare PASS variants

Rare synonymous (reference)

1 in 220

249 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DNAJA4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 140	1 in 1,500
South Asian	~43k	1 in 83	1 in 410
Remaining (unassigned)	~30k	1 in 92	1 in 390
European (Finnish)	~27k	1 in 270	1 in 1,600
Admixed American	~22k	1 in 99	1 in 1,100
African / African American	~21k	1 in 110	1 in 680
East Asian	~20k	1 in 100	1 in 340
Ashkenazi Jewish	~13k	1 in 220	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 99	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 6 of 7 coding exons well covered in gnomAD exomes; exon 3 marginal. Genomes: all 7.? see exons ↓