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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) Related, Subfamily B, Member 13 2 3
  • DnaJ (Hsp40) Homolog, 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 Primary Ciliary Dyskinesia 34 and Primary Ciliary Dyskinesia. GO annotations related to this gene include unfolded protein binding. An important paralog of this gene is DNAJB1.

UniProtKB/Swiss-Prot for DNAJB13 Gene

  • May play 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 , fRNAdb sequence ontologies and piRNA Summary for DNAJB13 Gene

Genomics for DNAJB13 Gene

Regulatory Elements for DNAJB13 Gene

Enhancers for DNAJB13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G073968 1.7 Ensembl ENCODE dbSUPER 8.1 +26.2 26245 16.9 CREB3L1 AGO1 ZFP64 DMAP1 SLC30A9 ZNF143 SP3 NFYC TBX21 PPARGC1A POLD3 UCP3 RNF169 ENSG00000206913 RPS12P22 UCP2 MRPL48 DNAJB13 P4HA3 PPME1
GH11G073911 0.5 ENCODE 11.7 -38.3 -38326 1.7 FOSL1 PBX2 ZNF133 FOSL2 ZNF558 MRPL48 DNAJB13 PAAF1 COA4 RAB6A ENSG00000256034 ENSG00000255928 PLEKHB1 GC11P073901 ARPC3P4
GH11G073950 1.1 Ensembl ENCODE 0.7 +0.7 682 0.4 ELF3 CREB3L1 WRNIP1 ARID4B SIN3A BMI1 ZNF143 THAP11 HCFC1 MXD4 DNAJB13 ENSG00000255847
GH11G073964 1.1 Ensembl ENCODE 0.4 +14.3 14282 0.8 CTCF ZSCAN4 ARID4B UBTF ZNF48 RAD21 RFX5 POLR2A PATZ1 ZNF143 UCP2 ENSG00000255847 DNAJB13
GH11G073955 0.8 ENCODE 0.4 +6.0 5960 0.9 SAP130 JUN TEAD3 FOSL1 ZBTB48 EGR1 FOSL2 NR2F6 FOS MAFK MRPL48 DNAJB13 ENSG00000255847
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAJB13 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAJB13 Gene

Chromosome:
11
Start:
73,950,319 bp from pter
End:
73,970,366 bp from pter
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.

    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

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:
May play 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:0003674 molecular_function ND --
GO:0005515 protein binding IPI 21994455
GO:0051082 unfolded protein binding IEA --
genes like me logo Genes that share ontologies with DNAJB13: view

Phenotypes for DNAJB13 Gene

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

Flow Cytometry Products

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. {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
cytoskeleton 3
peroxisome 2
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for DNAJB13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme IEA --
GO:0031514 motile cilium IDA,IEA 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

Transcripts for DNAJB13 Gene

Unigene Clusters for DNAJB13 Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for DNAJB13 Gene

GeneLoc Exon Structure for
DNAJB13
ECgene alternative splicing isoforms for
DNAJB13

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, PaxDb, and MOPED for DNAJB13 Gene



Protein tissue co-expression partners for DNAJB13 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNAJB13 Gene:

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

Primer Products

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 34 35
  • 89.87 (n)
cow
(Bos Taurus)
Mammalia DNAJB13 34 35
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Dnajb13 34
  • 88.29 (n)
mouse
(Mus musculus)
Mammalia Dnajb13 34 16 35
  • 86.81 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAJB13 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJB13 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJB13 34 35
  • 70.68 (n)
lizard
(Anolis carolinensis)
Reptilia DNAJB13 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajb13 34
  • 68.78 (n)
zebrafish
(Danio rerio)
Actinopterygii dnajb13 34 35
  • 62.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12020 35
  • 31 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08910 34
  • 52.97 (n)
rice
(Oryza sativa)
Liliopsida Os02g0306900 34
  • 52.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 67 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14203 34
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

ENSEMBL:
Gene Tree for DNAJB13 (if available)
TreeFam:
Gene Tree for DNAJB13 (if available)

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 Sequence Context AA Info Type
VAR_077053 Ciliary dyskinesia, primary, 34 (CILD34) [MIM:617091]
rs754776389 Pathogenic 73,969,996(+) GGGGA(C/G/T)GCCAT nc-transcript-variant, reference, missense
rs775700619 Pathogenic 73,951,138(+) CAGGC(A/C/G)TAAGT splice-donor-variant
rs1000419861 -- 73,950,983(+) CTGTG(C/T)GGTTG nc-transcript-variant, utr-variant-5-prime
rs1001106909 -- 73,962,466(+) GTAGG(C/T)GGATG intron-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)

Relevant External Links 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

(2) MalaCards diseases for DNAJB13 Gene - From: ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
primary ciliary dyskinesia 34
  • cild34
primary ciliary dyskinesia
  • ciliary motility disorder
- 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.

Relevant External Links for DNAJB13

Genetic Association Database (GAD)
DNAJB13
Human Genome Epidemiology (HuGE) Navigator
DNAJB13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAJB13
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. (Am. J. Hum. Genet. 2016) 3 4 64
  2. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 64
  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 2003) 3 4 64
  4. DNAJB13, a type II HSP40 family member, localizes to the spermatids and spermatozoa during mouse spermatogenesis. (PMID: 25233908) Li W. … Liu G. (BMC Dev. Biol. 2014) 3 64
  5. Septins at the annulus of mammalian sperm. (PMID: 21740329) Toure A. … Gacon G. (Biol. Chem. 2011) 3 64

Products for DNAJB13 Gene

Sources for DNAJB13 Gene

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