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Aliases for DNAJB13 Gene

Aliases for DNAJB13 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member B13 2 3 5
  • Testis Spermatogenesis Apoptosis-Related Gene 3 Protein 3 4
  • Testis Spermatogenesis Apoptosis-Related Gene 6 Protein 3 4
  • Testis Spermatocyte Apoptosis-Related Gene 6 Protein 3 4
  • Testis And Spermatogenesis Cell-Related Protein 6 3 4
  • DnaJ (Hsp40) Homolog, Subfamily B, Member 13 2 3
  • DnaJ (Hsp40) Related, Subfamily B, Member 13 2 3
  • TSARG6 3 4
  • Radial Spoke 16 Homolog A (Chlamydomonas) 2
  • DnaJ Homolog Subfamily B Member 13 3
  • Radial Spoke 16 Homolog A 3
  • DnaJ-Like Protein 3
  • RSPH16A 3
  • CILD34 3
  • TSARG5 3
  • TSARG3 4

External Ids for DNAJB13 Gene

Previous GeneCards Identifiers for DNAJB13 Gene

  • GC11P073340
  • GC11P073661
  • GC11P069957

Summaries for DNAJB13 Gene

Entrez Gene Summary for DNAJB13 Gene

  • 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]

GeneCards Summary for DNAJB13 Gene

DNAJB13 (DnaJ Heat Shock Protein Family (Hsp40) Member B13) is a Protein Coding gene. Diseases associated with DNAJB13 include Ciliary Dyskinesia, Primary, 34 and Male Infertility. Gene Ontology (GO) annotations related to this gene include unfolded protein binding. An important paralog of this gene is DNAJB1.

UniProtKB/Swiss-Prot for DNAJB13 Gene

  • Plays a role in the formation of the central complex of ciliary and flagellar axonemes.

Additional gene information for DNAJB13 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJB13 Gene

Genomics for DNAJB13 Gene

GeneHancer (GH) Regulatory Elements for DNAJB13 Gene

Promoters and enhancers for DNAJB13 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J073950 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.7 +0.7 682 0.4 ELF3 ARID4B SIN3A BMI1 ETS1 ZNF614 ZNF143 THAP11 HCFC1 MXD4 DNAJB13 ENSG00000255847
GH11J073968 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 8.1 +26.2 26244 16.9 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC UCP2 POLD3 ENSG00000206913 RNF169 UCP3 RN7SL239P MRPL48 DNAJB13 P4HA3 PPME1
GH11J073911 Enhancer 0.3 ENCODE 11.7 -38.3 -38325 1.7 ZNF133 MRPL48 DNAJB13 COA4 PAAF1 ENSG00000256034 RAB6A ENSG00000255928 PLEKHB1 ARPC3P4 GC11P073901
GH11J073964 Enhancer 1 Ensembl ENCODE 0.4 +14.3 14282 0.8 ZSCAN4 ARID4B ZNF48 RAD21 RFX5 ARID2 ZNF143 THAP11 DEK SMARCA5 UCP2 ENSG00000255847 DNAJB13
GH11J073955 Enhancer 0.7 ENCODE 0.4 +6.0 5959 0.9 IRF2 SAP130 JUN TEAD3 FOSL1 ZBTB48 EGR1 NR2F6 FOSL2 FOS MRPL48 DNAJB13 ENSG00000255847
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJB13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAJB13 gene promoter:
  • Zic3
  • HSF2
  • AhR
  • deltaCREB
  • CREB
  • CUTL1
  • Ik-2
  • c-Myb
  • c-Jun
  • ATF-2

Genomic Locations for DNAJB13 Gene

Genomic Locations for DNAJB13 Gene
20,048 bases
Plus strand
20,048 bases
Plus strand

Genomic View for DNAJB13 Gene

Genes around DNAJB13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJB13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJB13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJB13 Gene

Proteins for DNAJB13 Gene

  • Protein details for DNAJB13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DnaJ homolog subfamily B member 13
    Protein Accession:
    Secondary Accessions:
    • B3LEP4
    • Q8IZW5

    Protein attributes for DNAJB13 Gene

    316 amino acids
    Molecular mass:
    36118 Da
    Quaternary structure:
    • Homodimer (PubMed:27486783). Interacts with SUN5 (By similarity).

    Alternative splice isoforms for DNAJB13 Gene


neXtProt entry for DNAJB13 Gene

Post-translational modifications for DNAJB13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNAJB13 Gene

Domains & Families for DNAJB13 Gene

Gene Families for DNAJB13 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DNAJB13 Gene

Suggested Antigen Peptide Sequences for DNAJB13 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNAJB13: view

No data available for UniProtKB/Swiss-Prot for DNAJB13 Gene

Function for DNAJB13 Gene

Molecular function for DNAJB13 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the formation of the central complex of ciliary and flagellar axonemes.

Gene Ontology (GO) - Molecular Function for DNAJB13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21994455
GO:0051082 unfolded protein binding IEA --
genes like me logo Genes that share ontologies with DNAJB13: view
genes like me logo Genes that share phenotypes with DNAJB13: view

Human Phenotype Ontology for DNAJB13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for DNAJB13 Gene

miRTarBase miRNAs that target DNAJB13

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJB13 Gene

Localization for DNAJB13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJB13 Gene

Cell projection, cilium, flagellum. Note=Localizes both to epithelial motile cilium and the sperm flagellum (PubMed:27486783). In spermatids, rapidly enriched in the coupling apparatus with the elongation of the spermatid. Tightly attached to the implantation fossa during the maturation of the spermatid. In mature spermatzoa evenly distributed along the flagellum (By similarity). {ECO:0000250 UniProtKB:Q80Y75, ECO:0000269 PubMed:27486783}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJB13 gene
Compartment Confidence
cytoskeleton 3
peroxisome 2
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAJB13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme IEA --
GO:0031514 motile cilium IEA,IDA 27486783
GO:0036126 sperm flagellum IDA 27486783
genes like me logo Genes that share ontologies with DNAJB13: view

Pathways & Interactions for DNAJB13 Gene

SuperPathways for DNAJB13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAJB13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IEA --
GO:0030030 cell projection organization IEA --
GO:1904158 axonemal central apparatus assembly IMP 27486783
genes like me logo Genes that share ontologies with DNAJB13: view

No data available for Pathways by source and SIGNOR curated interactions for DNAJB13 Gene

Drugs & Compounds for DNAJB13 Gene

No Compound Related Data Available

Transcripts for DNAJB13 Gene

mRNA/cDNA for DNAJB13 Gene

Unigene Clusters for DNAJB13 Gene

DnaJ (Hsp40) homolog, subfamily B, member 13:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJB13 Gene

No ASD Table

Relevant External Links for DNAJB13 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DNAJB13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAJB13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAJB13 Gene

This gene is overexpressed in Testis (x10.3), Cervix - Endocervix (x8.3), and Fallopian Tube (x7.5).

Protein differential expression in normal tissues from HIPED for DNAJB13 Gene

This gene is overexpressed in Neutrophil (60.9) and Testis (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DNAJB13 Gene

Protein tissue co-expression partners for DNAJB13 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNAJB13 Gene:


SOURCE GeneReport for Unigene cluster for DNAJB13 Gene:


mRNA Expression by UniProt/SwissProt for DNAJB13 Gene:

Tissue specificity: Specifically expressed in testis and trachea.
genes like me logo Genes that share expression patterns with DNAJB13: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJB13 Gene

Orthologs for DNAJB13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNAJB13 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia DNAJB13 34 33
  • 89.87 (n)
(Bos Taurus)
Mammalia DNAJB13 34 33
  • 89.45 (n)
(Rattus norvegicus)
Mammalia Dnajb13 33
  • 88.29 (n)
(Mus musculus)
Mammalia Dnajb13 16 34 33
  • 86.81 (n)
(Monodelphis domestica)
Mammalia DNAJB13 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia DNAJB13 34
  • 78 (a)
(Gallus gallus)
Aves DNAJB13 34 33
  • 70.68 (n)
(Anolis carolinensis)
Reptilia DNAJB13 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajb13 33
  • 68.78 (n)
(Danio rerio)
Actinopterygii dnajb13 34 33
  • 62.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12020 34
  • 31 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08910 33
  • 52.97 (n)
(Oryza sativa)
Liliopsida Os02g0306900 33
  • 52.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 67 (a)
Cin.14203 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14203 33
Species where no ortholog for DNAJB13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAJB13 Gene

Gene Tree for DNAJB13 (if available)
Gene Tree for DNAJB13 (if available)
Evolutionary constrained regions (ECRs) for DNAJB13: view image

Paralogs for DNAJB13 Gene

Paralogs for DNAJB13 Gene

(5) SIMAP similar genes for DNAJB13 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DNAJB13: view

Variants for DNAJB13 Gene

Sequence variations from dbSNP and Humsavar for DNAJB13 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs754776389 pathogenic, Ciliary dyskinesia, primary, 34, Ciliary dyskinesia, primary, 34 (CILD34) [MIM:617091] 73,969,996(+) T/C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs775700619 pathogenic, Ciliary dyskinesia, primary, 34 73,951,138(+) G/A/C genic_upstream_transcript_variant, splice_donor_variant
rs1000419861 -- 73,950,983(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1001106909 -- 73,962,466(+) C/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1001108440 -- 73,952,617(+) G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DNAJB13 Gene

Variant ID Type Subtype PubMed ID
esv1001380 CNV gain 20482838

Variation tolerance for DNAJB13 Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.64; 86.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJB13 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJB13 Gene

Disorders for DNAJB13 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DNAJB13 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 34
  • cild34
male infertility
  • infertility male
cryptorchidism, unilateral or bilateral
  • undescended testis
- elite association - COSMIC cancer census association via MalaCards


  • Ciliary dyskinesia, primary, 34 (CILD34) [MIM:617091]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive. {ECO:0000269 PubMed:27486783}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DNAJB13

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DNAJB13: view

No data available for Genatlas for DNAJB13 Gene

Publications for DNAJB13 Gene

  1. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. (PMID: 27486783) El Khouri E … Amselem S (American journal of human genetics 2016) 3 4 58
  2. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58
  3. [Molecular cloning of TSARG3 gene related to apoptosis in human spermatogenic cells]. (PMID: 12673577) Liu G … Li L (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2003) 3 4 58
  4. DNAJB13, a type II HSP40 family member, localizes to the spermatids and spermatozoa during mouse spermatogenesis. (PMID: 25233908) Li W … Liu G (BMC developmental biology 2014) 3 58
  5. Generation and comprehensive analysis of an influenza virus polymerase cellular interaction network. (PMID: 21994455) Tafforeau L … Lotteau V (Journal of virology 2011) 3 58

Products for DNAJB13 Gene

Sources for DNAJB13 Gene

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