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RCN2 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Gene Name: | reticulocalbin 2, EF-hand calcium binding domain |
Synonyms: | RCN2, Calcium-binding protein ERC-55, E6-binding protein, E6BP, ERC55, TCBP49, ERC-55, Reticulocalbin-2 |
Target Sequences: | NM_002902 NP_002893.1 Q14257 |
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