QuickView for C2orf71;jsessionid=A3C18788E07A17D8B2EEEE60AB1721C4 (gene)

Gene Symbol:

C2orf71 Homo sapiens

Full name:

chromosome 2 open reading frame 71

Synonyms:

RP54, uncharacterized protein C2orf71

Genomic Location:

Chr 2: 29138062-29150631

Description:

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa.

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Pan troglodytes ,  Bos taurus ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTTGCAG_MIR518A2 ,  AAAGACA_MIR511

Cytogenetic Map:

2p23.2

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