Gene Gene information from NCBI Gene database.
Entrez ID 768206
Gene name Photoreceptor disc component
Gene symbol PRCD
Synonyms (NCBI Gene)
RP36
Chromosome 17
Chromosome location 17q25.1
Summary 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,
miRNA miRNA information provided by mirtarbase database.
71
miRTarBase ID miRNA Experiments Reference
MIRT1259816 hsa-miR-1184 CLIP-seq
MIRT1259817 hsa-miR-1207-3p CLIP-seq
MIRT1259818 hsa-miR-1301 CLIP-seq
MIRT1259819 hsa-miR-2278 CLIP-seq
MIRT1259820 hsa-miR-3166 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IEA
GO:0002046 Function Opsin binding IBA
GO:0002046 Function Opsin binding IEA
GO:0005576 Component Extracellular region IDA 24992209
GO:0005737 Component Cytoplasm IDA 24992209
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610598 32528 ENSG00000214140
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00LT1
Protein name Photoreceptor disk component PRCD (Progressive rod-cone degeneration protein)
Protein function Involved in vision.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15201 Rod_cone_degen 1 54 Progressive rod-cone degeneration Family
Sequence
Sequence length 54
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
82
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Retinal dystrophy Likely pathogenic; Pathogenic rs779066277, rs527236092, rs387907268, rs773201535, rs527451635 RCV003888332
RCV003888552
RCV001075439
RCV001074035
RCV003887978
Retinitis pigmentosa Likely pathogenic; Pathogenic rs779066277, rs527236092, rs387907268, rs2074970792, rs527451635 RCV001844531
RCV000132616
RCV001003124
RCV001199722
RCV005419063
Retinitis pigmentosa 36 Likely pathogenic; Pathogenic rs527236092, rs387907268, rs773201535, rs527451635 RCV000678599
RCV000030701
RCV005866795
RCV005014323
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Retinitis Pigmentosa, Recessive Uncertain significance rs148861933, rs886053476, rs144319284 RCV000406834
RCV000374992
RCV000406795
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Retinal Dystrophies Associate 34996991