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RP2

RP2 activator of ARL3 GTPase

HCNC Approved Symbol
RP2 (HGNC:10274)
Genomic Coordinates
23:46,837,043 - 46,882,358 (Xp11.3)
Synonyms
TBCCD2, NME10, NM23-H10
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

17Patients

In total, 17 patients were diagnosed with a variant in the RP2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Retinitis pigmentosa
 9 (52.9%)
Decreased visual acuity
 3 (17.6%)
Night blindness
 3 (17.6%)
Cataract
 
2 (11.8%)
Nyctalopia
 
2 (11.8%)
RP2 - Gene browser | 3billion