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Aliases for DNAJB2 Gene

Aliases for DNAJB2 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member B2 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily B, Member 2 2 3
  • Heat Shock 40 KDa Protein 3 3 4
  • DnaJ Protein Homolog 1 3 4
  • Heat Shock Protein J1 3 4
  • HSJ-1 3 4
  • HSPF3 3 4
  • HSJ1 3 4
  • Heat Shock Protein, Neuronal DNAJ-Like 1 3
  • DnaJ Homolog Subfamily B Member 2 3
  • CMT2T 3
  • DSMA5 3

External Ids for DNAJB2 Gene

Previous HGNC Symbols for DNAJB2 Gene

  • HSJ1

Previous GeneCards Identifiers for DNAJB2 Gene

  • GC02P218159
  • GC02P218865
  • GC02P220108
  • GC02P220346
  • GC02P219969
  • GC02P219852
  • GC02P220143
  • GC02P211997

Summaries for DNAJB2 Gene

Entrez Gene Summary for DNAJB2 Gene

  • This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]

GeneCards Summary for DNAJB2 Gene

DNAJB2 (DnaJ Heat Shock Protein Family (Hsp40) Member B2) is a Protein Coding gene. Diseases associated with DNAJB2 include Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 and Charcot-Marie-Tooth Disease, Axonal, Type 2T. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include unfolded protein binding and Hsp70 protein binding. An important paralog of this gene is DNAJB6.

Gene Wiki entry for DNAJB2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJB2 Gene

Genomics for DNAJB2 Gene

Regulatory Elements for DNAJB2 Gene

Enhancers for DNAJB2 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
GH02F219244 0.2 ENCODE 12.5 -29.2 -29150 11.3 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YBX1 GLB1L LINC00608 LINC01803 ZFAND2B ANKZF1 ATG9A DNAJB2 TUBA4A MIR153-1 PTPRN
GH02F219362 1 Ensembl ENCODE 10.5 +83.5 83513 1.2 SIN3A ZIC2 ZFHX2 GLIS2 POLR2A ZNF366 EED ZNF600 FOS CREM RESP18 PTPRN MIR153-1 DNAJB2 TUBA4A TUBA4B SPEG ENSG00000232789 LOC105373883
GH02F219121 1.1 Ensembl ENCODE 10.1 -154.1 -154129 7.3 ATF1 ARID4B YBX1 FOS SP5 KAT8 SREBF1 MIER3 ETV4 RCOR2 SLC23A3 NHEJ1 IHH LOC100129175 MIR375 FEV CRYBA2 LINC00608 CNPPD1 FAM134A
GH02F219683 0.9 Ensembl ENCODE 4.6 +408.4 408409 7.4 PKNOX1 ATF1 ARID4B ZNF143 ZNF263 SP3 GTF2B NFYC REST ZNF592 OBSL1 CHPF TMEM198 SLC4A3 ENSG00000228973 DNPEP DNAJB2 ATG9A LOC105373886 RPL23P4
GH02F218954 0.8 FANTOM5 3.1 -324.3 -324280 0.3 RESP18 LINC00608 FEV CRYBA2 CDK5R2 PTPRN DNAJB2 CFAP65 KRT8P30
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DNAJB2 on UCSC Golden Path with GeneCards custom track

Promoters for DNAJB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000125384 333 1201 HDGF PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1

Genomic Location for DNAJB2 Gene

Chromosome:
2
Start:
219,279,267 bp from pter
End:
219,286,900 bp from pter
Size:
7,634 bases
Orientation:
Plus strand

Genomic View for DNAJB2 Gene

Genes around DNAJB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJB2 Gene

Proteins for DNAJB2 Gene

  • Protein details for DNAJB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25686-DNJB2_HUMAN
    Recommended name:
    DnaJ homolog subfamily B member 2
    Protein Accession:
    P25686
    Secondary Accessions:
    • A8K9P6
    • Q8IUK1
    • Q8IUK2
    • Q96F52

    Protein attributes for DNAJB2 Gene

    Size:
    324 amino acids
    Molecular mass:
    35580 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DNAJB2 Gene

    Alternative splice isoforms for DNAJB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJB2 Gene

Post-translational modifications for DNAJB2 Gene

  • Ubiquitination at Lys 39, Lys 59, Lys 288, and Lys 309
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DNAJB2 Gene

Domains & Families for DNAJB2 Gene

Gene Families for DNAJB2 Gene

Protein Domains for DNAJB2 Gene

Suggested Antigen Peptide Sequences for DNAJB2 Gene

Graphical View of Domain Structure for InterPro Entry

P25686

UniProtKB/Swiss-Prot:

DNJB2_HUMAN :
  • Contains 1 J domain.
Domain:
  • Contains 1 J domain.
  • Contains 2 UIM (ubiquitin-interacting motif) domains.
genes like me logo Genes that share domains with DNAJB2: view

Function for DNAJB2 Gene

Gene Ontology (GO) - Molecular Function for DNAJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IDA 7957263
GO:0005515 protein binding IPI 24023695
GO:0030544 Hsp70 protein binding IPI 22219199
GO:0051082 unfolded protein binding IDA 21231916
GO:0051087 chaperone binding IPI 21231916
genes like me logo Genes that share ontologies with DNAJB2: view
genes like me logo Genes that share phenotypes with DNAJB2: view

Human Phenotype Ontology for DNAJB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for DNAJB2 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJB2 Gene

Localization for DNAJB2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAJB2 Gene COMPARTMENTS Subcellular localization image for DNAJB2 gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DNAJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21231916
GO:0005829 cytosol IDA 21231916
genes like me logo Genes that share ontologies with DNAJB2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DNAJB2 Gene

Pathways & Interactions for DNAJB2 Gene

genes like me logo Genes that share pathways with DNAJB2: view

Pathways by source for DNAJB2 Gene

1 KEGG pathway for DNAJB2 Gene

Gene Ontology (GO) - Biological Process for DNAJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006986 response to unfolded protein TAS 1599432
GO:0008285 negative regulation of cell proliferation IGI --
GO:0030308 negative regulation of cell growth IGI --
GO:0031396 regulation of protein ubiquitination IMP 24023695
genes like me logo Genes that share ontologies with DNAJB2: view

No data available for SIGNOR curated interactions for DNAJB2 Gene

Transcripts for DNAJB2 Gene

Unigene Clusters for DNAJB2 Gene

DnaJ (Hsp40) homolog, subfamily B, member 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJB2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - -
SP5: - - - -
SP6: -
SP7: - - -
SP8:
SP9:
SP10: -
SP11: -

Relevant External Links for DNAJB2 Gene

GeneLoc Exon Structure for
DNAJB2
ECgene alternative splicing isoforms for
DNAJB2

Expression for DNAJB2 Gene

mRNA expression in normal human tissues for DNAJB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNAJB2 Gene

This gene is overexpressed in Bone (12.7), Nasal epithelium (11.3), Brain (9.7), Fetal Brain (6.9), and Frontal cortex (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DNAJB2 Gene



Protein tissue co-expression partners for DNAJB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAJB2 Gene:

DNAJB2

SOURCE GeneReport for Unigene cluster for DNAJB2 Gene:

Hs.77768

mRNA Expression by UniProt/SwissProt for DNAJB2 Gene:

P25686-DNJB2_HUMAN
Tissue specificity: Brain (neuronal layers). Weakly, in skeletal muscle and spleen.
genes like me logo Genes that share expression patterns with DNAJB2: view

Primer Products

No data available for mRNA differential expression in normal tissues for DNAJB2 Gene

Orthologs for DNAJB2 Gene

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

Orthologs for DNAJB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJB2 34 35
  • 99.88 (n)
cow
(Bos Taurus)
Mammalia DNAJB2 34 35
  • 92.21 (n)
dog
(Canis familiaris)
Mammalia DNAJB2 34 35
  • 90.09 (n)
rat
(Rattus norvegicus)
Mammalia Dnajb2 34
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Dnajb2 34 16 35
  • 85.91 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAJB2 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJB2 34 35
  • 69.16 (n)
lizard
(Anolis carolinensis)
Reptilia DNAJB2 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajb2 34
  • 58.06 (n)
zebrafish
(Danio rerio)
Actinopterygii dnajb2 34 35
  • 61.4 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5558 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012194 34
  • 52.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta mrj 34 35
  • 51.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JJJ3 37
Species where no ortholog for DNAJB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • bread mold (Neurospora crassa)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for DNAJB2 Gene

ENSEMBL:
Gene Tree for DNAJB2 (if available)
TreeFam:
Gene Tree for DNAJB2 (if available)

Paralogs for DNAJB2 Gene

genes like me logo Genes that share paralogs with DNAJB2: view

Variants for DNAJB2 Gene

Sequence variations from dbSNP and Humsavar for DNAJB2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs730882140 Distal spinal muscular atrophy, autosomal recessive, 5 (DSMA5) [MIM:614881], Pathogenic 219,279,847(+) CTACT(A/G)CGAGA reference, missense
rs730882139 Pathogenic 219,281,772(+) GACAG(A/G)TAGGT splice-donor-variant
rs756614404 Pathogenic 219,282,062(+) CTTTG(A/G)TGAGT splice-donor-variant
rs764813110 Pathogenic 219,284,631(+) TTGCA(A/G)GTGTC splice-acceptor-variant
rs797045039 Pathogenic 219,282,052(+) TTGCA(G/T)AGCTC reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for DNAJB2 Gene

Variant ID Type Subtype PubMed ID
nsv508885 CNV insertion 20534489
nsv527936 CNV loss 19592680
nsv584501 CNV loss 21841781
nsv834543 CNV loss 17160897

Variation tolerance for DNAJB2 Gene

Residual Variation Intolerance Score: 62.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAJB2 Gene

Human Gene Mutation Database (HGMD)
DNAJB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJB2 Gene

Disorders for DNAJB2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for DNAJB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy, distal, autosomal recessive, 5
  • spinal muscular atrophy, distal, autosomal recessive 5
charcot-marie-tooth disease, axonal, type 2t
  • charcot-marie-tooth disease axonal type 2t
charcot-marie-tooth disease type 2t
  • charcot-marie-tooth disease, axonal, type 2t
charcot-marie-tooth hereditary neuropathy
  • charcot-marie-tooth disease
charcot-marie-tooth disease, type 1b
  • charcot-marie-tooth disease, demyelinating, type 1b
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DNJB2_HUMAN
  • Distal spinal muscular atrophy, autosomal recessive, 5 (DSMA5) [MIM:614881]: An autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired. {ECO:0000269 PubMed:22522442, ECO:0000269 PubMed:24627108, ECO:0000269 PubMed:25274842}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAJB2

Genetic Association Database (GAD)
DNAJB2
Human Genome Epidemiology (HuGE) Navigator
DNAJB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAJB2
genes like me logo Genes that share disorders with DNAJB2: view

No data available for Genatlas for DNAJB2 Gene

Publications for DNAJB2 Gene

  1. Human homologues of the bacterial heat-shock protein DnaJ are preferentially expressed in neurons. (PMID: 1599432) Cheetham M.E. … Anderton B.H. (Biochem. J. 1992) 2 3 4 64
  2. HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. (PMID: 25274842) Gess B. … Senderek J. (Neurology 2014) 3 4 64
  3. A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. (PMID: 22522442) Blumen S.C. … Viollet L. (Ann. Neurol. 2012) 3 4 64
  4. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr J.M. … Deary I.J. (Mech. Ageing Dev. 2008) 3 46 64
  5. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PMID: 17601350) Harris S.E. … Deary I.J. (BMC Genet. 2007) 3 46 64

Products for DNAJB2 Gene

Sources for DNAJB2 Gene

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