DNAJB8

Chr 3

DnaJ heat shock protein family (Hsp40) member B8

Also known as: CT156, DJ6

NCBI Gene: 165721 ENSG00000179407 UniProt: Q8NHS0 OMIM: 611337

The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.30

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.30LOEUF

pLI 0.095

Z-score 1.17

OE 0.42 (0.17–1.30)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.52Z-score

OE missense 1.12 (0.99–1.26)

175 obs / 156.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.42 (0.17–1.30)

0≤0.351.4

Missense OE?1.12 (0.99–1.26)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 2 / 4.7Missense obs/exp: 175 / 156.8Syn Z: -0.29

Background carrier burden — how many people carry a rare variant somewhere in DNAJB8?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 94

376 rare PASS variants

Rare truncating (LoF)

1 in 6,500

16 rare PASS variants

Rare synonymous (reference)

1 in 370

134 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DNAJB8. 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 8,700
South Asian	~43k	1 in 120	≈ 1 in 22,000
Remaining (unassigned)	~30k	1 in 85	≈ 1 in 15,000
European (Finnish)	~27k	1 in 550	≈ 1 in 6,700
Admixed American	~22k	1 in 99	≈ 1 in 7,600
African / African American	~21k	1 in 130	1 in 3,800
East Asian	~20k	1 in 200	none seen
Ashkenazi Jewish	~13k	1 in 930	none seen
Middle Eastern	~2,884	1 in 100	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): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓