• Gene id: 4189

Gene Summary

• Gene Symbol: DNAJB9   Gene   UCSC   Ensembl
• Aliases: ERdj4, MDG-1, MDG1, MST049, MSTP049
• Gene name: DnaJ heat shock protein family (Hsp40) member B9
• Alternate names: dnaJ homolog subfamily B member 9, DnaJ (Hsp40) homolog, subfamily B, member 9, ER-resident protein ERdj4, endoplasmic reticulum DNA J domain-containing protein 4, endoplasmic reticulum DnaJ homolog 4, microvascular endothelial differentiation gene 1 protein,
• Gene location: 14q24.2-q24.3 (108569873: 108574849)     Exons: 3     NC_000007.14
• Gene summary(Entrez): This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized
• OMIM: 602634

Protein Summary

• Protein general information: Q9UBS3  
  • Name: DnaJ homolog subfamily B member 9 (Endoplasmic reticulum DNA J domain containing protein 4) (ER resident protein ERdj4) (ERdj4) (Microvascular endothelial differentiation gene 1 protein) (Mdg 1)
  • Length: 223  
  • Mass: 25518
  • Tissue specificity: Widely expressed. Expressed at highest level in the liver, placenta and kidney (PubMed
• Sequence:

  MATPQSIFIFAICILMITELILASKSYYDILGVPKSASERQIKKAFHKLAMKYHPDKNKSPDAEAKFREIAEAYE
  TLSDANRRKEYDTLGHSAFTSGKGQRGSGSSFEQSFNFNFDDLFKDFGFFGQNQNTGSKKRFENHFQTRQDGGSS
  RQRHHFQEFSFGGGLFDDMFEDMEKMFSFSGFDSTNQHTVQTENRFHGSSKHCRTVTQRRGNMVTTYTDCSGQ

• Structural information:
  • Protein Domains: (26..9-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00286"-)
  • Interpro: IPR001623  IPR018253  IPR036869  
  • Prosite: PS00636 PS50076
  • CDD: cd06257
  • PDB: 2CTR
  • PDBsum: 2CTR
  • STRING: ENSP00000249356
• Other Databases: GeneCards:  DNAJB9  Malacards:  DNAJB9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903895	negative regulation of IRE1-mediated unfolded protein response	ISS	biological process
GO:0030183	B cell differentiation	ISS	biological process
GO:0002377	immunoglobulin production	ISS	biological process
GO:0051087	chaperone binding	ISS	molecular function
GO:0034976	response to endoplasmic reticulum stress	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006986	response to unfolded protein	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0002377	immunoglobulin production	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0030183	B cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IEA	biological process
GO:0030544	Hsp70 protein binding	IEA	molecular function
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0051087	chaperone binding	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0051787	misfolded protein binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005730	nucleolus	ISS	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0005737	cytoplasm	ISS	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R