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DNAJB13

Synonyms
CILD34, RSPH16A, TSARG5, TSARG6
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
2
Likely pathogenic
2
VUS
13,357
Likely benign
5,276
Benign
679

Patient phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on DNAJB13 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the immune system
66.7%
Abnormality of the nervous system
66.7%
Abnormal cellular phenotype
33.3%
Abnormality of blood and blood-forming tissues
33.3%
Abnormality of head or neck
33.3%
Abnormality of limbs
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the eye
33.3%
Abnormality of the integument
33.3%
Abnormality of the musculoskeletal system
33.3%
Growth abnormality
33.3%
Neoplasm
33.3%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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