DNAJB13

Chr 11AR

DnaJ heat shock protein family (Hsp40) member B13

Also known as: CILD34, RSPH16A, TSARG5, TSARG6

NCBI Gene: 374407ENSG00000187726UniProt: P59910

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]

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 34MIM #617091
AR
242
ClinVar variants
21
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— DNAJB13
🧬
Gene-Disease Validity (ClinGen)
primary ciliary dyskinesia 34 · ARModerate

Moderate evidence — consider for supplementary testing

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
21 Pathogenic / Likely Pathogenic· 83 VUS of 242 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.78LOEUF
pLI 0.003
Z-score 2.21
OE 0.42 (0.24–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.68Z-score
OE missense 0.86 (0.76–0.98)
161 obs / 187.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.42 (0.24–0.78)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.86 (0.76–0.98)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.86
0≤1.21.6
LoF obs/exp: 7 / 16.8Missense obs/exp: 161 / 187.1Syn Z: 0.94

ClinVar Variant Classifications

242 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic4
VUS83
Likely Benign73
Benign58
Conflicting7
17
Pathogenic
4
Likely Pathogenic
83
VUS
73
Likely Benign
58
Benign
7
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
4
1
12
0
17
Likely Pathogenic
4
0
0
0
4
VUS
1
68
14
0
83
Likely Benign
0
2
34
37
73
Benign
0
1
54
3
58
Conflicting
—7
Total97211440242

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DNAJB13 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

DNAJB13-related primary ciliary dyskinesia and male infertility

limited
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Ciliary dyskinesia, primary, 34

MIM #617091

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — DNAJB13
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia.
Li WN et al.·Andrology
2020
Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.
Yang M et al.·Elife
2025
Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.
Shang Y et al.·J Biol Chem
2018
A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.
Liu M et al.·J Assist Reprod Genet
2022
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
El Khouri E et al.·Am J Hum Genet
2016
German longevity study reveals novel rare pro-longevity alleles clustering in mTOR signaling pathway.
Kolbe D et al.·Geroscience
2025
Identifying potential genetic biomarkers for sperm dysfunction through whole-genome sequencing.
Khan MR et al.·Sci Rep
2025
Immune infiltration and prognosis in gastric cancer: role of NAD+ metabolism-related markers.
Xing Y et al.·PeerJ
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools