DNAJB2
DnaJ homolog subfamily B member 2
Also known as: CMT2T, DNJB2_HUMAN, HSJ1, HSPF3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P25686
- Gene
- DNAJB2
- Ensembl
- ENSG00000135924
- Chromosome
- 2
- Canonical length
- 324 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nuclear membrane
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
324 residues, UniProt reviewed canonical sequence.
>P25686|DNAJB2
1 MASYYEILDV PRSASADDIK KAYRRKALQW HPDKNPDNKE FAEKKFKEVA EAYEVLSDKH
61 KREIYDRYGR EGLTGTGTGP SRAEAGSGGP GFTFTFRSPE EVFREFFGSG DPFAELFDDL
121 GPFSELQNRG SRHSGPFFTF SSSFPGHSDF SSSSFSFSPG AGAFRSVSTS TTFVQGRRIT
181 TRRIMENGQE RVEVEEDGQL KSVTINGVPD DLALGLELSR REQQPSVTSR SGGTQVQQTP
241 ASCPLDSDLS EDEDLQLAMA YSLSEMEAAG KKPAGGREAQ HRRQGRPKAQ HQDPGLGGTQ
301 EGARGEATKR SPSPEEKASR CLILLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNAJB2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 285 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 285 nTPM
- midbrain: 219 nTPM
- hippocampal formation: 193 nTPM
- amygdala: 180 nTPM
- cerebral cortex: 170 nTPM
- hypothalamus: 169 nTPM
Single-cell type
- breast lactating cells: 252 nCPM
- oligodendrocytes: 160 nCPM
- esophageal apical cells: 158 nCPM
- epididymal principal cells: 143 nCPM
- late primary spermatocytes: 136 nCPM
- esophageal suprabasal cells: 114 nCPM
Immune cell
- eosinophil: 2.2 nTPM
- naive B-cell: 1.7 nTPM
- NK-cell: 1.3 nTPM
- non-classical monocyte: 1.2 nTPM
- naive CD4 T-cell: 1 nTPM
- T-reg: 1 nTPM
Brain region
- white matter: 368 nTPM
- basal ganglia: 223 nTPM
- cerebral cortex: 209 nTPM
- medulla oblongata: 208 nTPM
- midbrain: 206 nTPM
- thalamus: 203 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNAJB2.
Disease | AllUniProt
Conditions DNAJB2 is implicated in, by any mechanism.
- Neuronopathy, distal hereditary motor, autosomal recessive 5 (HMNR5) MIM:614881
Disease | GeneticClinVar
26 pathogenic / likely-pathogenic of 342 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neuronopathy, distal hereditary motor, autosomal recessive 5
- Charcot-Marie-Tooth disease
- Autosomal recessive distal spinal muscular atrophy 2
- DNAJB2-related disorder
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.03
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.72
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- ERAD pathway
- negative regulation of cell growth
- negative regulation of cell population proliferation
- negative regulation of inclusion body assembly
- negative regulation of protein binding
- negative regulation of protein deubiquitination
- neuron cellular homeostasis
- positive regulation of ATP-dependent activity
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- positive regulation of protein ubiquitination
- proteasome-mediated ubiquitin-dependent protein catabolic process
- protein folding
- protein refolding
- regulation of protein localization
- regulation of protein ubiquitination
- response to unfolded protein
- regulation of protein folding
Molecular functions
- ATPase activator activity
- Hsp70 protein binding
- polyubiquitin modification-dependent protein binding
- proteasome binding
- protein serine/threonine kinase binding
- protein transporter activity
- protein-folding chaperone binding
- ubiquitin binding
- ubiquitin protein ligase binding
- ubiquitin-modified protein reader activity
- unfolded protein binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DNAJB2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DNAJB2 as an antibody target. Whether an autoantibody or antibody against DNAJB2 could matter depends on whether native DNAJB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNAJB2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DNAJB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...