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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, Mar 2010]
PRCD (Photoreceptor Disc Component) is a Protein Coding gene. Diseases associated with PRCD include Retinitis Pigmentosa 36 and Retinitis Pigmentosa.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002046 | opsin binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001750 | photoreceptor outer segment | IEA | -- |
GO:0005576 | extracellular region | IDA | 24992209 |
GO:0005737 | cytoplasm | IDA | 24992209 |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 24992209 |
GO:0005794 | Golgi apparatus | IEA,IDA | 24992209 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007601 | visual perception | IEA | -- |
GO:0050896 | response to stimulus | IEA | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PRCD 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PRCD 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PRCD 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gm11744 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
771500 | Benign: not provided | 76,528,584(+) | C/T | SYNONYMOUS_VARIANT | |
777224 | Benign: not provided | 76,531,128(+) | G/T | SYNONYMOUS_VARIANT | |
799512 | Likely Benign: not provided | 76,540,153(+) | C/G | SYNONYMOUS_VARIANT | |
848892 | Uncertain Significance: not provided | 76,540,206(+) | G/A | MISSENSE_VARIANT | |
849356 | Uncertain Significance: not provided | 76,540,576(+) | A/G | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 36 |
|
|
retinitis pigmentosa |
|
|
fundus dystrophy |
|
|
inherited retinal disorder |
|
|
ceroid lipofuscinosis, neuronal, 5 |
|
|