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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: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:0016020 | membrane | IEA | -- |
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 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | PRCD 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | PRCD 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Gm11744 33 |
|
OneToOne |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs117784164 | uncertain-significance, Retinitis Pigmentosa, Recessive | 76,544,582(+) | C/T | 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant | |
rs121918369 | pathogenic, Retinitis pigmentosa 36, Retinitis pigmentosa 36 (RP36) [MIM:610599] | 76,540,146(+) | G/A | coding_sequence_variant, intron_variant, missense_variant | |
rs139602114 | uncertain-significance, Retinitis Pigmentosa, Recessive | 76,545,130(+) | C/G | 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant | |
rs144319284 | uncertain-significance, Retinitis Pigmentosa, Recessive | 76,544,240(+) | C/A/G/T | 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant | |
rs144852411 | uncertain-significance, Retinitis Pigmentosa, Recessive | 76,544,909(+) | G/A/C | 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 36 |
|
|
retinitis pigmentosa |
|
|
retinitis pigmentosa 17 |
|
|
entropion |
|
|
cone-rod dystrophy 6 |
|
|