Full name: reticulocalbin 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: E6BP; ERC-55; ERC55; TCBP49

Summary: The protein encoded by this gene 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. [provided by RefSeq, Nov 2012]

Expression: Ubiquitous expression in testis (RPKM 51.1), brain (RPKM 32.7) and 24 other tissues

Gene size: 22645bp

Exon count: 8