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 termina... See more...

Aliases for DNAJB13 Gene

Aliases for DNAJB13 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member B13 2 3 5
  • TSARG6 2 3 4
  • 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) Related, Subfamily B, Member 13 2 3
  • DnaJ (Hsp40) Homolog, Subfamily B, Member 13 2 3
  • DnaJ Homolog Subfamily B Member 13 3 4
  • RSPH16A 2 3
  • Radial Spoke 16 Homolog A (Chlamydomonas) 2
  • Radial Spoke 16 Homolog A 3
  • DnaJ-Like Protein 3
  • DNAJB13 5
  • 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 Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include unfolded protein binding. An important paralog of this gene is DNAJB1.

UniProtKB/Swiss-Prot Summary for DNAJB13 Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJB13 Gene

Genomics for DNAJB13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNAJB13 Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 1.3 EPDnew Ensembl ENCODE 600.7 +0.7 730 0.3 TFE3 RFX1 SIX5 LARP7 ZNF143 IRF2 GABPA KMT2B RFX3 SIN3A DNAJB13 ENSG00000255847 UCP2
GH11J073953 Enhancer 0.3 Ensembl 600.7 +2.0 1981 0.2 RBFOX2 HLF DNAJB13 ENSG00000255847 UCP2
GH11J073952 Enhancer 0.3 Ensembl 600.7 +1.6 1582 0.2 FOS DNAJB13 ENSG00000255847 UCP2
GH11J073972 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.1 +28.3 28253 12.9 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 ZNF512 UCP2 lnc-UCP3-4 UCP3 MRPL48 DNAJB13 P4HA3 PPME1 ENSG00000256723 PAAF1 ENSG00000287425
GH11J073968 Enhancer 0.8 ENCODE dbSUPER 7.2 +19.6 19646 3.7 ATF7 POLR2A ZNF600 ZBED1 ZBTB17 RBM22 SUPT5H ATF3 ZBTB33 NFATC1 ENSG00000255847 UCP2 MRPL48 PPME1 P4HA3 DNAJB13 PAAF1
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJB13

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

Genomic Locations for DNAJB13 Gene

Genomic Locations for DNAJB13 Gene
chr11:73,950,319-73,970,366
(GRCh38/hg38)
Size:
20,048 bases
Orientation:
Plus strand
chr11:73,661,364-73,681,411
(GRCh37/hg19)
Size:
20,048 bases
Orientation:
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:
    P59910-DJB13_HUMAN
    Recommended name:
    DnaJ homolog subfamily B member 13
    Protein Accession:
    P59910
    Secondary Accessions:
    • B3LEP4
    • Q8IZW5

    Protein attributes for DNAJB13 Gene

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

    Alternative splice isoforms for DNAJB13 Gene

    UniProtKB/Swiss-Prot:

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

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

Protein Domains for DNAJB13 Gene

Suggested Antigen Peptide Sequences for DNAJB13 Gene

GenScript: Design optimal peptide antigens:
  • DnaJ-like protein (B3LEP4_HUMAN)
  • Testis spermatogenesis apoptosis-related gene 6 protein (DJB13_HUMAN)
genes like me logo Genes that share domains with DNAJB13: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for DNAJB13 Gene

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 IBA 21873635
GO:0051087 chaperone binding IBA 21873635
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

CRISPR Products

miRNA for DNAJB13 Gene

miRTarBase miRNAs that target DNAJB13

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJB13

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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
cytosol 4
cytoskeleton 3
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

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:0005829 cytosol IBA 21873635
GO:0005929 cilium IEA --
GO:0005930 axoneme IEA --
GO:0031514 motile cilium IEA,IDA 27486783
genes like me logo Genes that share ontologies with DNAJB13: view

Pathways & Interactions for DNAJB13 Gene

PathCards logo

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:0051085 chaperone cofactor-dependent protein refolding IBA 21873635
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

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJB13

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

No ASD Table

Relevant External Links for DNAJB13 Gene

GeneLoc Exon Structure for
DNAJB13

Expression for DNAJB13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJB13

SOURCE GeneReport for Unigene cluster for DNAJB13 Gene:

Hs.567888

mRNA Expression by UniProt/SwissProt for DNAJB13 Gene:

P59910-DJB13_HUMAN
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
Dog
(Canis familiaris)
Mammalia DNAJB13 30 31
  • 89.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DNAJB13 30 31
  • 89.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dnajb13 30
  • 88.29 (n)
Mouse
(Mus musculus)
Mammalia Dnajb13 30 17 31
  • 86.81 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DNAJB13 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DNAJB13 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DNAJB13 30 31
  • 70.68 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DNAJB13 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dnajb13 30
  • 68.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii dnajb13 30 31
  • 62.13 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG12020 31
  • 31 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G08910 30
  • 52.97 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0306900 30
  • 52.06 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 67 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14203 30
Species where no ortholog for DNAJB13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

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

Paralogs for DNAJB13 Gene

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

  • DJB13_HUMAN
  • H0YFX2_HUMAN
genes like me logo Genes that share paralogs with DNAJB13: view

Variants for DNAJB13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJB13 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
708106 Likely Benign: not provided 73,958,360(+) G/A MISSENSE_VARIANT
711073 Likely Benign: not provided 73,964,917(+) T/G MISSENSE_VARIANT
714411 Likely Benign: not provided 73,970,006(+) G/T SYNONYMOUS_VARIANT
734161 Benign: not provided 73,966,130(+) T/C INTRON_VARIANT
741977 Likely Benign: not provided 73,964,982(+) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DNAJB13 Gene

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)
DNAJB13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJB13

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

Disorders for DNAJB13 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DNAJB13 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DJB13_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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 41
  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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. 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

Products for DNAJB13 Gene

Sources for DNAJB13 Gene