• Gene id: 3300

Gene Summary

• Gene Symbol: DNAJB2   Gene   UCSC   Ensembl
• Aliases: CMT2T, DSMA5, HSJ-1, HSJ1, HSPF3
• Gene name: DnaJ heat shock protein family (Hsp40) member B2
• Alternate names: dnaJ homolog subfamily B member 2, DnaJ (Hsp40) homolog, subfamily B, member 2, dnaJ protein homolog 1, heat shock 40 kDa protein 3, heat shock protein J1, heat shock protein, neuronal DNAJ-like 1,
• Gene location: 2q35 (219279365: 219286894)     Exons: 9     NC_000002.12
• Gene summary(Entrez): 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 pro
• OMIM: 618118

Protein Summary

• Protein general information: P25686  
  • Name: DnaJ homolog subfamily B member 2 (Heat shock 40 kDa protein 3) (Heat shock protein J1) (HSJ 1)
  • Length: 324  
  • Mass: 35580
  • Tissue specificity: More abundantly expressed in neocortex, cerebellum, spinal cord and retina where it is expressed by neuronal cells (at protein level) (PubMed
• Sequence:

  MASYYEILDVPRSASADDIKKAYRRKALQWHPDKNPDNKEFAEKKFKEVAEAYEVLSDKHKREIYDRYGREGLTG
  TGTGPSRAEAGSGGPGFTFTFRSPEEVFREFFGSGDPFAELFDDLGPFSELQNRGSRHSGPFFTFSSSFPGHSDF
  SSSSFSFSPGAGAFRSVSTSTTFVQGRRITTRRIMENGQERVEVEEDGQLKSVTINGVPDDLALGLELSRREQQP
  SVTSRSGGTQVQQTPASCPLDSDLSEDEDLQLAMAYSLSEMEAAGKKPAGGREAQHRRQGRPKAQHQDPGLGGTQ
  EGARGEATKRSPSPEEKASRCLIL

• Structural information:
  • Protein Domains: (2..7-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00286-)
    (210..22-)
    (/note="UIM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (250..26-)
    (/note="UIM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213"-)
  • Interpro: IPR001623  IPR018253  IPR036869  IPR003903  
  • Prosite: PS00636 PS50076 PS50330
  • CDD: cd06257
  • PDB: 2LGW
  • PDBsum: 2LGW
  • DIP: 29051
  • STRING: ENSP00000338019
• Other Databases: GeneCards:  DNAJB2  Malacards:  DNAJB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0140036	ubiquitin-dependent protein binding	IDA	molecular function
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0070050	neuron cellular homeostasis	TAS	biological process
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0031227	intrinsic component of endoplasmic reticulum membrane	IBA	cellular component
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0051082	unfolded protein binding	IBA	molecular function
GO:0061077	chaperone-mediated protein folding	IBA	biological process
GO:0000502	proteasome complex	IBA	colocalizes with
GO:0001671	ATPase activator activity	IBA	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0030544	Hsp70 protein binding	IBA	molecular function
GO:0042026	protein refolding	IBA	biological process
GO:0051087	chaperone binding	IBA	molecular function
GO:0051082	unfolded protein binding	IDA	molecular function
GO:0032091	negative regulation of protein binding	IDA	biological process
GO:0032781	positive regulation of ATPase activity	IDA	biological process
GO:0001671	ATPase activator activity	IDA	molecular function
GO:0032781	positive regulation of ATPase activity	IDA	biological process
GO:0001671	ATPase activator activity	IDA	molecular function
GO:1903644	regulation of chaperone-mediated protein folding	IDA	biological process
GO:0061077	chaperone-mediated protein folding	IMP	biological process
GO:0031396	regulation of protein ubiquitination	IMP	biological process
GO:0030544	Hsp70 protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051082	unfolded protein binding	IEA	molecular function
GO:0061077	chaperone-mediated protein folding	IEA	biological process
GO:0030544	Hsp70 protein binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006986	response to unfolded protein	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0051082	unfolded protein binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0090084	negative regulation of inclusion body assembly	IDA	biological process
GO:0042026	protein refolding	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0030308	negative regulation of cell growth	IGI	biological process
GO:0008285	negative regulation of cell population proliferation	IGI	biological process
GO:0030308	negative regulation of cell growth	IGI	biological process
GO:0008285	negative regulation of cell population proliferation	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Distal hereditary motor neuropathies	KEGG:H00856
Distal hereditary motor neuropathies	KEGG:H00856
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq