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Aliases for DNAJB14 Gene

Aliases for DNAJB14 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member B14 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily B, Member 14 2 3
  • DnaJ Homolog Subfamily B Member 14 3
  • EGNR9427 3
  • PRO34683 3

External Ids for DNAJB14 Gene

Previous GeneCards Identifiers for DNAJB14 Gene

  • GC04M101178
  • GC04M101039
  • GC04M100817
  • GC04M096559

Summaries for DNAJB14 Gene

GeneCards Summary for DNAJB14 Gene

DNAJB14 (DnaJ Heat Shock Protein Family (Hsp40) Member B14) is a Protein Coding gene. Diseases associated with DNAJB14 include Structural Heart Defects And Renal Anomalies Syndrome. An important paralog of this gene is DNAJB12.

UniProtKB/Swiss-Prot for DNAJB14 Gene

  • Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:24732912). Acts by determining HSPA8/Hsc70s ATPase and polypeptide-binding activities (PubMed:24732912). Can also act independently of HSPA8/Hsc70: together with DNAJB12, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB12 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912).

  • (Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744).

Additional gene information for DNAJB14 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJB14 Gene

Genomics for DNAJB14 Gene

GeneHancer (GH) Regulatory Elements for DNAJB14 Gene

Promoters and enhancers for DNAJB14 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
GH04I099944 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 563 -1.4 -1425 6.6 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 DNAJB14 H2AFZ LOC256880 LAMTOR3 DAPP1
GH04I099893 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23.4 +52.5 52475 2.3 PKNOX1 ATF1 ARID4B SIN3A YY1 ETS1 POLR2B E2F8 ATF7 RUNX3 LAMTOR3 DNAJB14 LOC256880 H2AFZ MTTP TRMT10A DAPP1 ENSG00000279913
GH04I099814 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 +129.8 129798 4.1 HDGF PKNOX1 FOXA2 SMAD1 RB1 IRF4 ZNF207 ZNF143 ATF7 ETV6 DAPP1 TRMT10A MTTP DNAJB14 H2AFZ LOC256880 LAMTOR3 LOC285556
GH04I099819 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +125.3 125295 3.2 CBX5 ATF7 TRIM24 ETV6 BCLAF1 IKZF2 RUNX3 ZBED1 CBFA2T3 REST LOC285556 DNAJB14 TRMT10A DAPP1 H2AFZ MTTP LOC256880 LAMTOR3 DDIT4L
GH04I099855 Enhancer 1.1 Ensembl ENCODE dbSUPER 20.3 +90.0 90025 3 SMARCA5 CTCF IRF2 MTA2 REST DPF2 FOSL1 JUND POLR2A SMARCA4 DNAJB14 DAPP1 H2AFZ LOC256880 ENSG00000279913 LAMTOR3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNAJB14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAJB14 gene promoter:

Genomic Locations for DNAJB14 Gene

Genomic Locations for DNAJB14 Gene
chr4:99,896,248-99,946,726
(GRCh38/hg38)
Size:
50,479 bases
Orientation:
Minus strand
chr4:100,817,405-100,867,883
(GRCh37/hg19)

Genomic View for DNAJB14 Gene

Genes around DNAJB14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJB14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJB14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJB14 Gene

Proteins for DNAJB14 Gene

  • Protein details for DNAJB14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBM8-DJB14_HUMAN
    Recommended name:
    DnaJ homolog subfamily B member 14
    Protein Accession:
    Q8TBM8
    Secondary Accessions:
    • Q6UXN1
    • Q7Z3P0
    • Q86TA7
    • Q86TM0
    • Q9GZU9

    Protein attributes for DNAJB14 Gene

    Size:
    379 amino acids
    Molecular mass:
    42516 Da
    Quaternary structure:
    • Interacts (via J domain) with HSPA8/Hsc70 (PubMed:23018488, PubMed:24732912, PubMed:27916661). Forms a multiprotein complex, at least composed of DNAJB12, DNAJB14, HSPA8/Hsc70 and SGTA; interaction with DNAJB14 and HSPA8/Hsc70 is direct (PubMed:24675744).
    SequenceCaution:
    • Sequence=AAQ88639.1; Type=Erroneous termination; Positions=355; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=BAB14645.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14893.1; Type=Erroneous termination; Positions=190; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=CAD97796.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAJB14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJB14 Gene

Post-translational modifications for DNAJB14 Gene

No data available for DME Specific Peptides for DNAJB14 Gene

Domains & Families for DNAJB14 Gene

Gene Families for DNAJB14 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for DNAJB14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TBM8

UniProtKB/Swiss-Prot:

DJB14_HUMAN :
  • Belongs to the DnaJ family. DNAJB12/DNAJB14 subfamily.
Family:
  • Belongs to the DnaJ family. DNAJB12/DNAJB14 subfamily.
genes like me logo Genes that share domains with DNAJB14: view

Function for DNAJB14 Gene

Molecular function for DNAJB14 Gene

UniProtKB/Swiss-Prot Function:
Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:24732912). Acts by determining HSPA8/Hsc70s ATPase and polypeptide-binding activities (PubMed:24732912). Can also act independently of HSPA8/Hsc70: together with DNAJB12, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB12 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912).
UniProtKB/Swiss-Prot Function:
(Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744).

Gene Ontology (GO) - Molecular Function for DNAJB14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030544 Hsp70 protein binding IPI 27916661
genes like me logo Genes that share ontologies with DNAJB14: view

Phenotypes for DNAJB14 Gene

GenomeRNAi human phenotypes for DNAJB14:
genes like me logo Genes that share phenotypes with DNAJB14: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJB14 Gene

Localization for DNAJB14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJB14 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein. Note=Localizes to the endoplasmic reticulum membrane (PubMed:23018488, PubMed:24732912, PubMed:27916661). When overexpressed, forms membranous structures in the nucleus (PubMed:24732912). {ECO:0000269 PubMed:23018488, ECO:0000269 PubMed:24732912, ECO:0000269 PubMed:27916661}.

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 DNAJB14 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
cytosol 4
plasma membrane 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DNAJB14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 27916661
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0031965 nuclear membrane IEA --
genes like me logo Genes that share ontologies with DNAJB14: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAJB14 Gene

Pathways & Interactions for DNAJB14 Gene

SuperPathways for DNAJB14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAJB14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043623 cellular protein complex assembly IDA 27916661
GO:0051085 chaperone cofactor-dependent protein refolding IDA 27916661
genes like me logo Genes that share ontologies with DNAJB14: view

No data available for Pathways by source and SIGNOR curated interactions for DNAJB14 Gene

Drugs & Compounds for DNAJB14 Gene

No Compound Related Data Available

Transcripts for DNAJB14 Gene

Unigene Clusters for DNAJB14 Gene

DnaJ (Hsp40) homolog, subfamily B, member 14:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJB14 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1: - - - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for DNAJB14 Gene

GeneLoc Exon Structure for
DNAJB14
ECgene alternative splicing isoforms for
DNAJB14

Expression for DNAJB14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAJB14 Gene

Protein differential expression in normal tissues from HIPED for DNAJB14 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (47.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DNAJB14 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNAJB14 Gene:

DNAJB14

SOURCE GeneReport for Unigene cluster for DNAJB14 Gene:

Hs.577426

Evidence on tissue expression from TISSUES for DNAJB14 Gene

  • Nervous system(4.6)
  • Kidney(2.6)
genes like me logo Genes that share expression patterns with DNAJB14: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJB14 Gene

Orthologs for DNAJB14 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAJB14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJB14 33 34
  • 99.91 (n)
dog
(Canis familiaris)
Mammalia DNAJB14 33 34
  • 95.78 (n)
cow
(Bos Taurus)
Mammalia DNAJB14 33 34
  • 94.81 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dnajb14 33 16 34
  • 85.93 (n)
rat
(Rattus norvegicus)
Mammalia Dnajb14 33
  • 84.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJB14 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJB14 34
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 83 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajb14 33
  • 70.77 (n)
Str.16686 33
zebrafish
(Danio rerio)
Actinopterygii dnajb14 33 34
  • 65.69 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3432 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001859 33
  • 48.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3061 34
  • 41 (a)
ManyToMany
CG30156 34
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dnj-1 34
  • 36 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL190C 33
  • 52.19 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HLJ1 33 34
  • 50.39 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E01629g 33
  • 49.05 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC17A3.05c 33
  • 46.7 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03335 33
  • 43.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5913 33
Species where no ortholog for DNAJB14 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNAJB14 Gene

ENSEMBL:
Gene Tree for DNAJB14 (if available)
TreeFam:
Gene Tree for DNAJB14 (if available)

Paralogs for DNAJB14 Gene

Paralogs for DNAJB14 Gene

(2) SIMAP similar genes for DNAJB14 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for DNAJB14 Gene

genes like me logo Genes that share paralogs with DNAJB14: view

Variants for DNAJB14 Gene

Sequence variations from dbSNP and Humsavar for DNAJB14 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000004218 -- 99,942,295(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000081328 -- 99,908,114(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000091835 -- 99,913,524(-) C/G genic_downstream_transcript_variant, intron_variant
rs1000163952 -- 99,913,923(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000210780 -- 99,919,234(-) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DNAJB14 Gene

Variant ID Type Subtype PubMed ID
nsv967775 CNV duplication 23825009

Variation tolerance for DNAJB14 Gene

Residual Variation Intolerance Score: 24.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJB14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJB14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJB14 Gene

Disorders for DNAJB14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNAJB14 Gene - From: OMIM

Disorder Aliases PubMed IDs
structural heart defects and renal anomalies syndrome
  • shdra
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNAJB14

genes like me logo Genes that share disorders with DNAJB14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAJB14 Gene

Publications for DNAJB14 Gene

  1. Tetrameric Assembly of K+ Channels Requires ER-Located Chaperone Proteins. (PMID: 27916661) Li K … Cai SQ (Molecular cell 2017) 3 4 58
  2. Expression of DNAJB12 or DNAJB14 causes coordinate invasion of the nucleus by membranes associated with a novel nuclear pore structure. (PMID: 24732912) Goodwin EC … DiMaio D (PloS one 2014) 3 4 58
  3. A novel mammalian ER-located J-protein, DNAJB14, can accelerate ERAD of misfolded membrane proteins. (PMID: 23018488) Sopha P … Kohno K (Cell structure and function 2012) 3 4 58
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for DNAJB14 Gene

Sources for DNAJB14 Gene

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