• Gene id: 494513

Gene Summary

• Gene Symbol: PJVK   Gene   UCSC   Ensembl
• Aliases: DFNB59
• Gene name: pejvakin
• Alternate names: pejvakin, autosomal recessive deafness type 59 protein,
• Gene location: 2q31.2 (178450591: 178467548)     Exons: 29     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic senso
• OMIM: 610219

Protein Summary

• Protein general information: Q0ZLH3  
  • Name: Pejvakin (Autosomal recessive deafness type 59 protein)
  • Length: 352  
  • Mass: 39913
• Sequence:

  MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKDILLGDREISAGISSY
  QLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINFDHSLIRQSRS
  SRKAVLCVVMESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLC
  VTSVSKGGFEREETATFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLL
  NHNIPKGPCILCGMGNFKRETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK

• Structural information:
  • Interpro: IPR007677  IPR040460  
  • STRING: ENSP00000386647
• Other Databases: GeneCards:  PJVK  Malacards:  PJVK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007605	sensory perception of sound	IBA	biological process
GO:0043025	neuronal cell body	IBA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq