CISD2
MIM.611507
The highly conserved zinc-finger gene ZCD2 gene encodes a very small, 135-amino acid protein, with a molecular weight estimated to be 15,278 Da. It is an endoplasmic reticulum intermembrane small protein.
The protein has a predicted transmembrane domain and a single zinc finger domain of the CDGSH type, located close to the carboxy terminus. This zinc finger is similar to domains in the protein encoded by another human gene, ZCD1, and to those in proteins in many single-cell organisms.
Protein homologs from dog, mouse, rat, chicken, 2 frog species, 2 fish species, and Drosophila melanogaster were identified. The protein is highly conserved and has 70% identity and 82% similarity across all vertebrate species studied.
RT-PCR of RNA from a variety of human tissues detected expression in the majority, including brain and pancreas. No expression was detected in cartilage, skeletal muscle, or fetal liver.
Pathology
germline mutations of ZCD2 gene in Wolfram syndrome 2 (WFS2) (MIM.604928)
References
Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007 Oct;81(4):673-83. PMID: #17846994#