• Gene id: 343035

Gene Summary

• Gene Symbol: RD3   Gene   UCSC   Ensembl
• Aliases: C1orf36, LCA12
• Gene name: retinal degeneration 3, GUCY2D regulator
• Alternate names: protein RD3, retinal degeneration 3, retinal degeneration protein 3,
• Gene location: 1q32.3 (211492916: 211476521)     Exons: 3     NC_000001.11
• Gene summary(Entrez): This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splic
• OMIM: 300287

Protein Summary

• Protein general information: Q7Z3Z2  
  • Name: Protein RD3 (Retinal degeneration protein 3)
  • Length: 195  
  • Mass: 22704
  • Tissue specificity: Expressed in retina (PubMed
• Sequence:

  MSLISWLRWNEAPSRLSTRSPAEMVLETLMMELTGQMREAERQQRERSNAVRKVCTGVDYSWLASTPRSTYDLSP
  IERLQLEDVCVKIHPSYCGPAILRFRQLLAEQEPEVQEVSQLFRSVLQEVLERMKQEEEAHKLTRQWSLRPRGSL
  ATFKTRARISPFASDIRTISEDVERDTPPPLRSWSMPEFRAPKAD

• Structural information:
  • Interpro: IPR028092  
  • PDB: 6DRF
  • PDBsum: 6DRF
  • STRING: ENSP00000355969
• Other Databases: GeneCards:  RD3  Malacards:  RD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060041	retina development in camera-type eye	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0031283	negative regulation of guanylate cyclase activity	IMP	biological process
GO:0031283	negative regulation of guanylate cyclase activity	IMP	biological process
GO:0060041	retina development in camera-type eye	ISS	biological process
GO:0007601	visual perception	ISS	biological process
GO:0015031	protein transport	IMP	biological process
GO:0001917	photoreceptor inner segment	ISS	cellular component
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0120200	rod photoreceptor outer segment	IEA	cellular component
GO:0120199	cone photoreceptor outer segment	IEA	cellular component
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0031283	negative regulation of guanylate cyclase activity	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Leber congenital amaurosis	KEGG:H00837
Leber congenital amaurosis	KEGG:H00837
Leber congenital amaurosis	PMID:22531706
Retinal degeneration	PMID:17186464
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881