RP2 Back

retinitis pigmentosa 2 (X-linked recessive)

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NCBI Description of RP2
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Community Annotation of RP2 Add / Edit RP2: Annotations

No community annotations yet for RP2.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

RP2 is highly significantly mutated in
(none)
RP2 is significantly mutated in
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RP2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for RP2