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Details of PRPF8 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PRPF8 | PRPC8 | Q6P2Q9 | PRP8_HUMAN | 10594 | ENSG00000174231 | Pre-mRNA-processing-splicing factor 8 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Retinitis pigmentosa 13 (RP13) [MIM:600059]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations affecting the gene represented in this entry. | 600059 | ||||||||
Phenotypes
Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of the eye, Abnormality of the fundus, Abnormality of the integument, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the skin, Abnormality of vision, All, Autosomal dominant inheritance, Constricted visual fields, Generalized abnormality of skin, Mode of inheritance, Night blindness, Phenotypic abnormality, Retinal degeneration, Visual field defect.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Prpf8 | Prp8 | prp-8 | Sp-Prpf8_1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| PRPF8 | PLRG1 | 0.948477571 | PRPF8 | PLRG1 | cpx749 | yes | yes | yes | Known |
| PRPF8 | CDC40 | 0.974802385 | PRPF8 | CDC40 | cpx490 | yes | yes | no | Known |
| PRPF31 | PRPF8 | 1 | PRPF31 | PRPF8 | cpx25 | yes | yes | yes | Known |
| RPLP0 | PRPF8 | 0.228242337 | RPLP0 | PRPF8 | cpx814 | no | no | no | Novel |
| SNRNP40 | PRPF8 | 0.477307407 | SNRNP40 | PRPF8 | cpx25 | yes | yes | no | Known |
| DDX23 | PRPF8 | 1 | DDX23 | PRPF8 | cpx25 | yes | no | no | Known |
| PRPF6 | PRPF8 | 1 | PRPF6 | PRPF8 | cpx25 | yes | yes | yes | Known |
| CD2BP2 | PRPF8 | 1 | CD2BP2 | PRPF8 | cpx25 | yes | yes | yes | Known |
| PRPF4 | PRPF8 | 1 | PRPF4 | PRPF8 | cpx25 | yes | yes | yes | Known |
| PRPF8 | PRPF3 | 1 | PRPF8 | PRPF3 | cpx25 | yes | yes | yes | Known |
| PRPF8 | SART1 | 1 | PRPF8 | SART1 | cpx25 | yes | yes | yes | Known |
| PRPF8 | SNRNP200 | 1 | PRPF8 | SNRNP200 | cpx25 | yes | yes | yes | Known |
| PRPF8 | EFTUD2 | 1 | PRPF8 | EFTUD2 | cpx25 | yes | yes | yes | Known |