DNAJB13 Chromosome 11
DnaJ heat shock protein family (Hsp40) member B13
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What This Gene Does
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]
Gene Info
Gene Group
DNAJ (HSP40) heat shock proteins
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000187726
Associated Conditions (3)
Primary ciliary dyskinesia 34
DNAJB13-related disorder
Cough
Key Variants
RS139317756
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 34, DNAJB13-related disorder, Primary ciliary dyskinesia 34
Health Risk
RS140556652
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 34, DNAJB13-related disorder, Primary ciliary dyskinesia 34
Health Risk
RS144296663
Conflicting classifications of pathogenicity
Health Risk
RS145187500
Conflicting classifications of pathogenicity
DNAJB13-related disorder, DNAJB13-related disorder
Health Risk
RS147921001
Conflicting classifications of pathogenicity
Cough, Cough
Health Risk
RS148650935
Conflicting classifications of pathogenicity
DNAJB13-related disorder, DNAJB13-related disorder
Health Risk
RS538964929
Conflicting classifications of pathogenicity
DNAJB13-related disorder, DNAJB13-related disorder
Health Risk
RS1374843910
Likely pathogenic
Health Risk
RS2495862131
Likely pathogenic
Health Risk
RS2495966748
Likely pathogenic
Primary ciliary dyskinesia 34, Primary ciliary dyskinesia 34
Health Risk
RS2495995561
Likely pathogenic
Health Risk
RS2495859707
Pathogenic
Primary ciliary dyskinesia 34, Primary ciliary dyskinesia 34
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139317756 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 34, DNAJB13-related disorder, Primary ciliary dyskinesia 34 |
| RS140556652 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 34, DNAJB13-related disorder, Primary ciliary dyskinesia 34 |
| RS144296663 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145187500 | Health Risk | Conflicting classifications of pathogenicity | DNAJB13-related disorder, DNAJB13-related disorder |
| RS147921001 | Health Risk | Conflicting classifications of pathogenicity | Cough, Cough |
| RS148650935 | Health Risk | Conflicting classifications of pathogenicity | DNAJB13-related disorder, DNAJB13-related disorder |
| RS538964929 | Health Risk | Conflicting classifications of pathogenicity | DNAJB13-related disorder, DNAJB13-related disorder |
| RS1374843910 | Health Risk | Likely pathogenic | — |
| RS2495862131 | Health Risk | Likely pathogenic | — |
| RS2495966748 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 34, Primary ciliary dyskinesia 34 |
| RS2495995561 | Health Risk | Likely pathogenic | — |
| RS2495859707 | Health Risk | Pathogenic | Primary ciliary dyskinesia 34, Primary ciliary dyskinesia 34 |
| RS754776389 | Health Risk | Pathogenic | Primary ciliary dyskinesia 34, Primary ciliary dyskinesia 34 |
| RS775700619 | Health Risk | Pathogenic | Primary ciliary dyskinesia 34, Primary ciliary dyskinesia 34 |
| RS777186025 | Health Risk | Pathogenic | — |