Mouse anti-Human/Mouse sapiens (Human) CISD2 Monoclonal Antibody

Function

Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy

Subcellular Location

Endoplasmic reticulum membrane (Single-pass membrane protein); Mitochondrion outer membrane (Single-pass membrane protein)

Disease Association

Wolfram syndrome 2 (WFS2) : A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Testis, small intestine, kidney, lung, brain, heart, pancreas and platelets

Subunit

Homodimer. Interacts with BCL2; the interaction is direct and disrupted by BIK interaction with BCL2. Interacts with BCL2L1. Interacts with ITPR1

• Amr S. et al. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. — Am. J. Hum. Genet. (2007)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Bechtel S. et al. The full-ORF clone resource of the German cDNA consortium. — BMC Genomics (2007)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Bienvenut W.V. et al. PubMed: CI-590RJT58FU1V (JUN-)
• Wiley S.E. et al. MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity. — Proc. Natl. Acad. Sci. U.S.A. (2007)
• Chang N.C. et al. Antagonism of Beclin 1-dependent autophagy by BCL-2 at the endoplasmic reticulum requires NAF-1. — EMBO J. (2010)