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... See more...

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
  • DnaJ Homolog Subfamily B Member 2 3 4
  • Heat Shock 40 KDa Protein 3 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 Protein Homolog 1 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 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2. Among its related pathways are Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and Hsp70 protein binding. An important paralog of this gene is DNAJB6.

UniProtKB/Swiss-Prot Summary for DNAJB2 Gene

  • Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family (PubMed:7957263, PubMed:22219199). In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins (PubMed:15936278, PubMed:21625540). Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes (PubMed:12754272, PubMed:20889486, PubMed:21719532, PubMed:22396390, PubMed:24023695). Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteins (PubMed:15936278).

Gene Wiki entry for DNAJB2 Gene

Additional gene information for DNAJB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJB2 Gene

Genomics for DNAJB2 Gene

GeneHancer (GH) Regulatory Elements for DNAJB2 Gene

Promoters and enhancers for DNAJB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJB2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJB2

Top Transcription factor binding sites by QIAGEN in the DNAJB2 gene promoter:
  • AREB6
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • CREB
  • NF-Y
  • p53
  • SEF-1 (1)
  • Sp1

Genomic Locations for DNAJB2 Gene

Genomic Locations for DNAJB2 Gene
chr2:219,279,267-219,286,900
(GRCh38/hg38)
Size:
7,634 bases
Orientation:
Plus strand
chr2:220,143,989-220,151,622
(GRCh37/hg19)
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
    • Q53QD7
    • Q8IUK1
    • Q8IUK2
    • Q96F52

    Protein attributes for DNAJB2 Gene

    Size:
    324 amino acids
    Molecular mass:
    35580 Da
    Quaternary structure:
    • Interacts with HSP70 (HSPA1A or HSPA1B) (PubMed:21625540, PubMed:22219199). Interacts with HSPA8/Hsc70 (PubMed:15936278). Interacts with PSMA3 and most probably with the whole proteasomal complex (PubMed:15936278).
    SequenceCaution:
    • Sequence=AAA09035.1; Type=Frameshift; Evidence={ECO:0000305};

    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

  • Ubiquitinated by STUB1; does not lead to proteasomal degradation.
  • Ubiquitination at Lys34, Lys39, Lys59, Lys288, and Lys309
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DNAJB2 Gene

Domains & Families for DNAJB2 Gene

Gene Families for DNAJB2 Gene

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

Protein Domains for DNAJB2 Gene

Blocks:
  • Ubiquitin interacting motif
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAJB2 Gene

GenScript: Design optimal peptide antigens:
  • Heat shock protein J1 (DNJB2_HUMAN)
  • cDNA, FLJ93128, Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), mRNA (Q53QD7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P25686

UniProtKB/Swiss-Prot:

DNJB2_HUMAN :
  • The J domain is sufficient to interact with HSP70 (HSPA1A or HSPA1B) and activate its ATPase activity (PubMed:22219199). The J domain is also required for the HSP70-mediated and ubiquitin-dependent proteasomal degradation of proteins like ATXN3 (PubMed:21625540). The J domain is required to reduce PRKN cytoplasmic aggregation (PubMed:20889486).
Domain:
  • The J domain is sufficient to interact with HSP70 (HSPA1A or HSPA1B) and activate its ATPase activity (PubMed:22219199). The J domain is also required for the HSP70-mediated and ubiquitin-dependent proteasomal degradation of proteins like ATXN3 (PubMed:21625540). The J domain is required to reduce PRKN cytoplasmic aggregation (PubMed:20889486).
  • The UIM domains mediate interaction with ubiquitinated chaperone clients and with the proteasome (PubMed:15936278). The UIM domains may have an opposite activity to the J domain, binding ubiquitinated proteins and protecting them from HSP70-mediated proteasomal degradation (PubMed:21625540). The UIM domains are not required to reduce PRKN cytoplasmic aggregation (PubMed:20889486).
genes like me logo Genes that share domains with DNAJB2: view

Function for DNAJB2 Gene

Molecular function for DNAJB2 Gene

UniProtKB/Swiss-Prot Function:
Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family (PubMed:7957263, PubMed:22219199). In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins (PubMed:15936278, PubMed:21625540). Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes (PubMed:12754272, PubMed:20889486, PubMed:21719532, PubMed:22396390, PubMed:24023695). Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteins (PubMed:15936278).

Phenotypes From GWAS Catalog for DNAJB2 Gene

Gene Ontology (GO) - Molecular Function for DNAJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IBA,IDA 7957263
GO:0005515 protein binding IPI 21625540
GO:0030544 Hsp70 protein binding IBA,IPI 22219199
GO:0043130 ubiquitin binding IDA 28031292
GO:0051082 unfolded protein binding IDA 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

CRISPR Products

miRNA for DNAJB2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJB2

Clone Products

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

Localization for DNAJB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJB2 Gene

[Isoform 2]: Cytoplasm. Nucleus.
[Isoform 1]: Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side.

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 DNAJB2 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 colocalizes_with proteasome complex IBA 21873635
GO:0005623 cell IEA --
GO:0005634 nucleus IEA,IDA 21231916
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with DNAJB2: view

Pathways & Interactions for DNAJB2 Gene

PathCards logo

SuperPathways 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:0006986 response to unfolded protein TAS 1599432
GO:0008285 negative regulation of cell proliferation IGI 9553041
GO:0030308 negative regulation of cell growth IGI 9553041
GO:0030433 ubiquitin-dependent ERAD pathway IBA 21873635
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

Drugs & Compounds for DNAJB2 Gene

No Compound Related Data Available

Transcripts for DNAJB2 Gene

mRNA/cDNA for DNAJB2 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
18 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 DNAJB2

Clone 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

Expression for DNAJB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for DNAJB2 Gene



Protein tissue co-expression partners for DNAJB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJB2

SOURCE GeneReport for Unigene cluster for DNAJB2 Gene:

Hs.77768

mRNA Expression by UniProt/SwissProt for DNAJB2 Gene:

P25686-DNJB2_HUMAN
Tissue specificity: More abundantly expressed in neocortex, cerebellum, spinal cord and retina where it is expressed by neuronal cells (at protein level) (PubMed:1599432, PubMed:12754272). Detected at much lower level in non-neuronal tissues including kidney, lung, heart, skeletal muscle, spleen and testis (at protein level) (PubMed:12754272, PubMed:1599432). Isoform 1 is more abundant in neocortex and cerebellum compared to isoform 2 (at protein level) (PubMed:12754272).

Evidence on tissue expression from TISSUES for DNAJB2 Gene

  • Nervous system(4.9)
  • Lung(4.4)
  • Intestine(4.3)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJB2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Limb:
  • lower limb
  • shin
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with DNAJB2: view

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 31 30
  • 99.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DNAJB2 31 30
  • 92.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNAJB2 31 30
  • 90.09 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnajb2 30
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Dnajb2 17 31 30
  • 85.91 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAJB2 31
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJB2 31 30
  • 69.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAJB2 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajb2 30
  • 58.06 (n)
zebrafish
(Danio rerio)
Actinopterygii dnajb2 31 30
  • 61.4 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5558 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012194 30
  • 52.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta mrj 31 30
  • 51.62 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JJJ3 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for DNAJB2: view image

Paralogs for DNAJB2 Gene

(16) SIMAP similar genes for DNAJB2 Gene using alignment to 7 proteins:

  • DNJB2_HUMAN
  • C9J1G2_HUMAN
  • C9JRD2_HUMAN
  • C9JX00_HUMAN
  • C9JXB9_HUMAN
  • E7ETU0_HUMAN
  • Q53QD7_HUMAN
genes like me logo Genes that share paralogs with DNAJB2: view

Variants for DNAJB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJB2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
254212 Pathogenic: Spinal muscular atrophy, distal, autosomal recessive, 5 219,277,936(+) AGATTCAAAGTCCCAG
643766 Uncertain Significance: Spinal muscular atrophy, distal, autosomal recessive, 5 219,284,769(+) G/C MISSENSE_VARIANT
643812 Uncertain Significance: Spinal muscular atrophy, distal, autosomal recessive, 5 219,282,891(+) CCTT/C INFRAME_DELETION
645330 Uncertain Significance: Spinal muscular atrophy, distal, autosomal recessive, 5 219,284,766(+) G/C MISSENSE_VARIANT
647696 Uncertain Significance: Spinal muscular atrophy, distal, autosomal recessive, 5 219,284,686(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DNAJB2 Gene

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)

Additional Variant Information 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

(22) MalaCards diseases for DNAJB2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for DNAJB2

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

No data available for Genatlas for DNAJB2 Gene

Publications for DNAJB2 Gene

  1. The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formation. (PMID: 12754272) Chapple JP … Cheetham ME (The Journal of biological chemistry 2003) 3 4 23 54
  2. Regulation of 70-kDa heat-shock-protein ATPase activity and substrate binding by human DnaJ-like proteins, HSJ1a and HSJ1b. (PMID: 7957263) Cheetham ME … Anderton BH (European journal of biochemistry 1994) 3 4 23 54
  3. Human homologues of the bacterial heat-shock protein DnaJ are preferentially expressed in neurons. (PMID: 1599432) Cheetham ME … Anderton BH (The Biochemical journal 1992) 2 3 4 54
  4. HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. (PMID: 25274842) Gess B … Senderek J (Neurology 2014) 3 4 54
  5. Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis. (PMID: 24023695) Novoselov SS … Cheetham ME (PloS one 2013) 3 4 54

Products for DNAJB2 Gene

Sources for DNAJB2 Gene