Gene: DNAJB13

Alternate names for this Gene: CILD34|RSPH16A|TSARG5|TSARG6

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.4

Description of this Gene: DnaJ heat shock protein family (Hsp40) member B13

Type of Gene: protein-coding

rs754776389 in DNAJB13 gene and CILIARY DYSKINESIA, PRIMARY, 34 PMID 27486783 2016 Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

rs150037652 in DNAJB13 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.