QuickView for Rp2 (gene)

Gene Symbol:

RP2 Homo sapiens

Full name:

RP2, ARL3 GTPase activating protein

Synonyms:

DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2, protein XRP2, retinitis pigmentosa 2 (X-linked recessive)

Genomic Location:

Chr X: 46581320-46626737

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 is...

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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

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  CTTTGCA_MIR527 ,  TGAGATT_MIR216 ,  ALPHACP1_01 ,  WTTGKCTG_UNKNOWN ,  AACTTT_UNKNOWN

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-21 ,  Predicted Gene Targets for miR-216

miRNA binding sites
(Source: miRecords):

hsa-miR-21 Targeted Genes

Cytogenetic Map:

Xp11.3

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