DNAJC13

Chr 3

DnaJ heat shock protein family (Hsp40) member C13

Also known as: PARK21, RME8

NCBI Gene: 23317 ENSG00000138246 UniProt: O75165 OMIM: 614334

This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtParkinson disease

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.20

LOEUF· LoF intol.

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Mechanism

📖

GeneReview available — DNAJC13

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.20LOEUF

pLI 1.000

Z-score 9.16

OE 0.13 (0.09–0.20)

Highly constrained

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

Missense Constraint?

2.28Z-score

OE missense 0.81 (0.77–0.86)

945 obs / 1164.3 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.13 (0.09–0.20)

0≤0.351.4

Missense OE?0.81 (0.77–0.86)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 17 / 129.5Missense obs/exp: 945 / 1164.3Syn Z: 0.72

Background carrier burden — how many people carry a rare variant somewhere in DNAJC13?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 31

2,437 rare PASS variants

Rare truncating (LoF)

1 in 1,900

156 rare PASS variants

Rare synonymous (reference)

1 in 72

917 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DNAJC13. 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 42	1 in 2,900
South Asian	~43k	1 in 28	1 in 920
Remaining (unassigned)	~30k	1 in 33	1 in 5,000
European (Finnish)	~27k	1 in 71	1 in 5,300
Admixed American	~22k	1 in 27	1 in 580
African / African American	~21k	1 in 22	1 in 1,400
East Asian	~20k	1 in 32	1 in 640
Ashkenazi Jewish	~13k	1 in 120	1 in 2,600
Middle Eastern	~2,884	1 in 28	≈ 1 in 1,400

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): 46 of 55 coding exons well covered in gnomAD exomes; exons 5, 6, 9, 14, 25 and 4 more marginal. Genomes: all 55.? see exons ↓