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Gene: RP2 (RP2 activator of ARL3 GTPase) Homo sapiens
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Symbol: RP2
Name: RP2 activator of ARL3 GTPase
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DELXp11.3; KIAA0215; NM23-H10; NME10; retinitis pigmentosa 2 (X-linked recessive); TBCCD2; XRP2
Orthologs:
Mus musculus (house mouse) : Rp2 (retinitis pigmentosa 2 homolog)  MGI  Alliance
Rattus norvegicus (Norway rat) : Rp2 (RP2 activator of ARL3 GTPase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Rp2 (RP2 activator of ARL3 GTPase)
Pan paniscus (bonobo/pygmy chimpanzee) : RP2 (RP2 activator of ARL3 GTPase)
Canis lupus familiaris (dog) : RP2 (RP2 activator of ARL3 GTPase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Rp2 (RP2 activator of ARL3 GTPase)
Sus scrofa (pig) : RP2 (RP2 activator of ARL3 GTPase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X46,837,043 - 46,882,358 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X46,696,347 - 46,741,793 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,581,320 - 46,626,737 (+)NCBINCBI36hg18NCBI36
Build 34X46,452,628 - 46,498,043NCBI
CeleraX50,888,193 - 50,933,646 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,407,914 - 44,453,137 (+)NCBIHuRef
CHM1_1X46,728,434 - 46,773,905 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on RP2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1345059
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.