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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
  • 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 charcot-marie-tooth disease, axonal, type 2t and spinal muscular atrophy, distal, autosomal recessive, 5. 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 DNAJB8.

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

Promoters for DNAJB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAJB2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for DNAJB2 Gene at MOPED

Post-translational modifications for DNAJB2 Gene

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

Antibody Products

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:0031593 polyubiquitin binding IDA 15936278
GO:0031625 ubiquitin protein ligase binding IPI 20889486
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

CRISPR Products

miRNA for DNAJB2 Gene

Inhibitory RNA Products

In Situ Assay 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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 1599432
GO:0031398 positive regulation of protein ubiquitination IDA 15936278
GO:0032880 regulation of protein localization IMP 20889486
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

Unigene Clusters for DNAJB2 Gene

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

CRISPR Products

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, MOPED, and MaxQB for DNAJB2 Gene



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

Protein tissue co-expression partners for DNAJB2 Gene

- Elite partner

Primer Products

In Situ Assay 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 35
  • 99.88 (n)
  • 100 (a)
DNAJB2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNAJB2 36
  • 95 (a)
OneToOne
DNAJB2 35
  • 92.21 (n)
  • 95.99 (a)
dog
(Canis familiaris)
Mammalia DNAJB2 35
  • 90.09 (n)
  • 93.17 (a)
DNAJB2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnajb2 16
Dnajb2 36
  • 88 (a)
OneToOne
Dnajb2 35
  • 85.91 (n)
  • 85.19 (a)
oppossum
(Monodelphis domestica)
Mammalia DNAJB2 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnajb2 35
  • 87.37 (n)
  • 88.28 (a)
chicken
(Gallus gallus)
Aves DNAJB2 36
  • 61 (a)
OneToOne
DNAJB2 35
  • 69.16 (n)
  • 68.9 (a)
lizard
(Anolis carolinensis)
Reptilia DNAJB2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajb2 35
  • 58.06 (n)
  • 53.87 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5558 35
zebrafish
(Danio rerio)
Actinopterygii dnajb2 35
  • 61.4 (n)
  • 61.28 (a)
dnajb2 36
  • 38 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012194 35
  • 52.66 (n)
  • 49.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta mrj 35
  • 51.62 (n)
  • 52.91 (a)
mrj 36
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JJJ3 38
Species with no ortholog for DNAJB2:
  • 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
rs34127289 - 219,284,820(+) CAGCT(C/G)GGAAG reference, missense
VAR_073286 Charcot-Marie-Tooth disease 2T (CMT2T)
rs3770223 -- 219,280,197(+) tcccc(C/G)TAGAT intron-variant
rs3770224 -- 219,282,444(+) GTGAA(C/T)CCTGA intron-variant
rs3821038 -- 219,283,045(+) CCCTG(C/T)GAGGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834543 CNV Loss 17160897
nsv508885 CNV Insertion 20534489
nsv527936 CNV Loss 19592680

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

HapMap Linkage Disequilibrium report
DNAJB2
Human Gene Mutation Database (HGMD)
DNAJB2

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

Disorders for DNAJB2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2t
  • cmt2t
spinal muscular atrophy, distal, autosomal recessive, 5
  • spinal muscular atrophy, distal, autosomal recessive 5
charcot-marie-tooth disease type 2t
  • charcot-marie-tooth disease, axonal, type 2t
young adult-onset distal hereditary motor neuropathy
  • spinal muscular atrophy, distal, autosomal recessive, 5
charcot-marie-tooth hereditary neuropathy
  • charcot-marie-tooth disease
- 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:25274842}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:616233]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {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 67
  2. The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formation. (PMID: 12754272) Chapple J.P. … Cheetham M.E. (J. Biol. Chem. 2003) 3 23
  3. Assignment of the neuronal cochaperone, HSJ1, to human chromosome bands 2q32-->q34 between D2S295 and D2S339 by in situ hybridization and somatic cell and radiation hybrids. (PMID: 10516435) Chapple J.P. … Cheetham M.E. (Cytogenet. Cell Genet. 1999) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. The MEKK1 PHD ubiquitinates TAB1 to activate MAPKs in response to cytokines. (PMID: 25260751) Charlaftis N. … Gallagher E. (EMBO J. 2014) 3

Products for DNAJB2 Gene

Sources for DNAJB2 Gene

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