• Gene id: 768206

Gene Summary

• Gene Symbol: PRCD   Gene   UCSC   Ensembl
• Aliases: RP36
• Gene name: photoreceptor disc component
• Alternate names: photoreceptor disk component PRCD, progressive rod-cone degeneration protein,
• Gene location: 17q25.1 (76527585: 76555338)     Exons: 8     NC_000017.11
• Gene summary(Entrez): This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq,
• OMIM: 601012

Protein Summary

• Protein general information: Q00LT1  
  • Name: Photoreceptor disk component PRCD (Progressive rod cone degeneration protein)
  • Length: 54  
  • Mass: 6007
• Sequence:

  MCTTLFLLSTLAMLWRRRFANRVQPEPSDVDGAARGSSLDADPQSSGREKEPLK

• Structural information:
  • Interpro: IPR027937  
  • STRING: ENSP00000465932
• Other Databases: GeneCards:  PRCD  Malacards:  PRCD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042622	photoreceptor outer segment membrane	IBA	cellular component
GO:0002046	opsin binding	IBA	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0042622	photoreceptor outer segment membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0042622	photoreceptor outer segment membrane	IEA	cellular component
GO:0002046	opsin binding	IEA	molecular function
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0042622	photoreceptor outer segment membrane	IDA	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq