• Gene id: 54788

Gene Summary

• Gene Symbol: DNAJB12   Gene   UCSC   Ensembl
• Aliases: DJ10
• Gene name: DnaJ heat shock protein family (Hsp40) member B12
• Alternate names: dnaJ homolog subfamily B member 12, DnaJ (Hsp40) homolog, subfamily B, member 12,
• Gene location: 10q22.1 (72354918: 72332834)     Exons: 9     NC_000010.11
• Gene summary(Entrez): DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the
• OMIM: 608376

Protein Summary

• Protein general information: Q9NXW2  
  • Name: DnaJ homolog subfamily B member 12
  • Length: 375  
  • Mass: 41860
• Sequence:

  MESNKDEAERCISIALKAIQSNQPDRALRFLEKAQRLYPTPRVRALIESLNQKPQTAGDQPPPTDTTHATHRKAG
  GTDAPSANGEAGGESTKGYTAEQVAAVKRVKQCKDYYEILGVSRGASDEDLKKAYRRLALKFHPDKNHAPGATEA
  FKAIGTAYAVLSNPEKRKQYDQFGDDKSQAARHGHGHGDFHRGFEADISPEDLFNMFFGGGFPSSNVHVYSNGRM
  RYTYQQRQDRRDNQGDGGLGVFVQLMPILILILVSALSQLMVSSPPYSLSPRPSVGHIHRRVTDHLGVVYYVGDT
  FSEEYTGSSLKTVERNVEDDYIANLRNNCWKEKQQKEGLLYRARYFGDTDMYHRAQKMGTPSCSRLSEVQASLHG

• Structural information:
  • Protein Domains: (112..17-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00286"-)
  • Interpro: IPR001623  IPR018253  IPR015399  IPR036869  
  • Prosite: PS00636 PS50076
  • CDD: cd06257
  • PDB: 2CTP
  • PDBsum: 2CTP
  • STRING: ENSP00000345575
• Other Databases: GeneCards:  DNAJB12  Malacards:  DNAJB12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0051085	chaperone cofactor-dependent protein refolding	IBA	biological process
GO:0071218	cellular response to misfolded protein	IBA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0030544	Hsp70 protein binding	IBA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0051085	chaperone cofactor-dependent protein refolding	IDA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0071218	cellular response to misfolded protein	IDA	biological process
GO:0071218	cellular response to misfolded protein	IDA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0034622	cellular protein-containing complex assembly	IDA	biological process
GO:0036503	ERAD pathway	IDA	biological process
GO:0036503	ERAD pathway	IDA	biological process
GO:0030544	Hsp70 protein binding	IPI	molecular function
GO:0030544	Hsp70 protein binding	IPI	molecular function
GO:0030544	Hsp70 protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881