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GeneQ18031212· pop 6· linked from 5 articles

Also known as DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2, retinitis pigmentosa 2 (X-linked recessive), RP2, ARL3 GTPase activating protein, RP2 activator of ARL3 GTPase

protein-coding gene in the species Homo sapiens

Gene data

RP2
Name
RP2 activator of ARL3 GTPase
Type
protein-coding
Chromosome
X
Position
46,836,922–46,889,240 (+)
Aliases
DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2
RefSeq RNA
NM_006915.3
RefSeq protein
NP_008846.2

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 [provided by RefSeq, Jul 2008].

via MyGene.info

Gene · Ensembl

RP2 activator of ARL3 GTPase

Symbol
RP2
Biotype
Protein coding
Organism
Homo sapiens
Location
Chr X:46,836,922-46,889,240
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image
Protein RP2 PDB 2bx6.png
Show 5 more facts
HomoloGene ID
5042
genomic start
46696375
genomic end
46741793
cytogenetic location
Xp11.3
Sources (4)

via Wikidata · CC0

Available in 5 languages

via Wikidata sitelinks · CC0

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