Gene Gene information from NCBI Gene database.
Entrez ID 374407
Gene name DnaJ heat shock protein family (Hsp40) member B13
Gene symbol DNAJB13
Synonyms (NCBI Gene)
CILD34RSPH16ATSARG5TSARG6
Chromosome 11
Chromosome location 11q13.4
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 ass
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs754776389 T>C,G Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs775700619 G>A,C Pathogenic Genic upstream transcript variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
278
miRTarBase ID miRNA Experiments Reference
MIRT706852 hsa-miR-216a-5p HITS-CLIP 21572407
MIRT706851 hsa-miR-6760-3p HITS-CLIP 21572407
MIRT706850 hsa-miR-1208 HITS-CLIP 21572407
MIRT706849 hsa-miR-6736-3p HITS-CLIP 21572407
MIRT628738 hsa-miR-1304-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0001534 Component Radial spoke IEA
GO:0001534 Component Radial spoke ISS
GO:0005515 Function Protein binding IPI 21994455, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610263 30718 ENSG00000187726
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P59910
Protein name DnaJ homolog subfamily B member 13 (Testis and spermatogenesis cell-related protein 6) (Testis spermatocyte apoptosis-related gene 6 protein) (Testis spermatogenesis apoptosis-related gene 3 protein) (Testis spermatogenesis apoptosis-related gene 6 protei
Protein function Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00226 DnaJ 4 65 DnaJ domain Domain
PF01556 DnaJ_C 140 299 DnaJ C terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in testis and trachea. {ECO:0000269|PubMed:27486783}.
Sequence
Sequence length 316
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Primary ciliary dyskinesia 34 Pathogenic; Likely pathogenic rs2495859707, rs754776389, rs775700619, rs2495966748 RCV002471447
RCV000239984
RCV000240325
RCV003989904
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CILIARY DYSKINESIA, PRIMARY, 34 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cough Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DNAJB13-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthenozoospermia Asthenozoospermia BEFREE 31342671
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia Pubtator 31342671 Associate
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia HPO_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma HPO_DG
★☆☆☆☆
Found in Text Mining only
Bronchiectasis Bronchiectasis HPO_DG
★☆☆☆☆
Found in Text Mining only
Bronchitis, Chronic Gastric Cancer HPO_DG
★☆☆☆☆
Found in Text Mining only
Chronic otitis media Otitis media HPO_DG
★☆☆☆☆
Found in Text Mining only
Chronic sinusitis Sinusitis HPO_DG
★☆☆☆☆
Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus Ciliary Dyskinesia ORPHANET_DG 27486783
★☆☆☆☆
Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 34 Ciliary dyskinesia UNIPROT_DG 27486783
★★☆☆☆
Found in Text Mining + Unknown/Other Associations