• Gene id: 56521

Gene Summary

• Gene Symbol: DNAJC12   Gene   UCSC   Ensembl
• Aliases: HPANBH4, JDP1
• Gene name: DnaJ heat shock protein family (Hsp40) member C12
• Alternate names: dnaJ homolog subfamily C member 12, DnaJ (Hsp40) homolog, subfamily C, member 12, J domain containing protein 1 (JDP1), J domain protein 1, j domain-containing protein 1,
• Gene location: 10q21.3 (90131692: 90193576)     Exons: 22     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for th
• OMIM: 606060

Protein Summary

• Protein general information: Q9UKB3  
  • Name: DnaJ homolog subfamily C member 12 (J domain containing protein 1)
  • Length: 198  
  • Mass: 23415
  • Tissue specificity: Expressed at high levels in brain, heart, and testis, and at reduced levels in kidney and stomach.
• Sequence:

  MDAILNYRSEDTEDYYTLLGCDELSSVEQILAEFKVRALECHPDKHPENPKAVETFQKLQKAKEILTNEESRARY
  DHWRRSQMSMPFQQWEALNDSVKTSMHWVVRGKKDLMLEESDKTHTTKMENEECNEQRERKKEELASTAEKTEQK
  EPKPLEKSVSPQNSDSSGFADVNGWHLRFRWSKDAPSELLRKFRNYEI

• Structural information:
  • Protein Domains: (14..7-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00286"-)
  • Interpro: IPR001623  IPR036869  IPR029827  
  • Prosite: PS50076
  • CDD: cd06257
  • PDB: 2CTQ
  • PDBsum: 2CTQ
  • STRING: ENSP00000225171
• Other Databases: GeneCards:  DNAJC12  Malacards:  DNAJC12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)