SCAPER

Description

The SCAPER (S-phase cyclin A associated protein in the ER) is a protein-coding gene located on chromosome 15.

SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) is a gene found on chromosome 15 (15q24.3). It was discovered in 2007. The gene contains 30 exons and encodes a protein with 1399 amino acids and a predicted weight of 158 kilodaltons. The protein has several features, including a C2H2-type zinc finger motif, a transmembrane domain, an ER retrieval signal, coiled-coil domains, RXL motifs, and Cdk phosphorylation sites. SCAPER is located in both the nucleus and the endoplasmic reticulum, and is present in all tissues examined. It appears to play a role in the cell cycle. Mutations in the SCAPER gene have been linked to intellectual disability and retinitis pigmentosa.

SCAPER acts as a regulatory protein for the CCNA2/CDK2 complex, playing a temporary role in keeping CCNA2 within the cytoplasm.

SCAPER is also known as IDDRP, MSTP063, ZNF291, Zfp291.

Associated Diseases

• Retinitis pigmentosa
• Intellectual developmental disorder and retinitis pigmentosa
• Bardet-Biedl syndrome