DNAJB13

Chr 11AR

DnaJ heat shock protein family (Hsp40) member B13

Also known as: CILD34, RSPH16A, TSARG5, TSARG6

NCBI Gene: 374407 ENSG00000187726 UniProt: P59910 OMIM: 610263

This gene encodes a heat shock protein 40 co-chaperone that functions as part of axonemal radial spoke complexes essential for sperm and cilia motility. Mutations cause primary ciliary dyskinesia with autosomal recessive inheritance. The protein is highly expressed in testis and associates with sperm flagellar structures, explaining the associated male infertility phenotype.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility. [provided by RefSeq, Apr 2017]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 34MIM #617091

Clinical highlights

Gene–disease validity (ClinGen)

Moderate · primary ciliary dyskinesia 34 · AR · ClinGen 2025

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.78

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — DNAJB13

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.78LOEUF

pLI 0.003

Z-score 2.21

OE 0.42 (0.24–0.78)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.68Z-score

OE missense 0.86 (0.76–0.98)

161 obs / 187.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.42 (0.24–0.78)

0≤0.351.4

Missense OE?0.86 (0.76–0.98)

0≤0.61.4

Synonymous OE?0.86

0≤1.21.6

LoF obs/exp: 7 / 16.8Missense obs/exp: 161 / 187.1Syn Z: 0.94

Background carrier burden — how many people carry a rare variant somewhere in DNAJB13?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

441 rare PASS variants

Rare truncating (LoF)

1 in 2,500

73 rare PASS variants

Rare synonymous (reference)

1 in 310

160 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DNAJB13. 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 220	1 in 2,900
South Asian	~43k	1 in 79	1 in 1,700
Remaining (unassigned)	~30k	1 in 100	1 in 2,500
European (Finnish)	~27k	1 in 240	none seen
Admixed American	~22k	1 in 140	1 in 920
African / African American	~21k	1 in 100	1 in 1,300
East Asian	~20k	1 in 190	1 in 3,300
Ashkenazi Jewish	~13k	1 in 860	≈ 1 in 4,300
Middle Eastern	~2,884	1 in 120	≈ 1 in 2,900

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): 7 of 8 coding exons well covered in gnomAD exomes; exon 7 poorly covered. Genomes: all 8.? see exons ↓