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MT001678

UniProt Annotations

Entry Information

Gene Name	CDGSH iron sulfur domain 2
Protein Entry	CISD2_HUMAN
UniProt ID	Q8N5K1
Species	Human

Comments

Comment type	Description
Biophysicochemical Properties	Redox potential: E is 0 +/- 10 mV for 2Fe-2S at pH 7.5. {ECO:0000269\|PubMed:19580816};
Caution	Although initially thought (PubMed:17846994) to be a zinc-finger protein, it was later shown (PubMed:17376863) that it binds 1 2Fe-2S cluster instead. {ECO:0000305\|PubMed:17376863, ECO:0000305\|PubMed:17846994}.
Cofactor	Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601; Evidence={ECO:0000269\|PubMed:17376863}; Note=Binds 1 [2Fe-2S] cluster. {ECO:0000269\|PubMed:17376863};
Disease	Wolfram syndrome 2 (WFS2) [MIM:604928]: 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. {ECO:0000269\|PubMed:17846994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269\|PubMed:17846994, ECO:0000269\|PubMed:20010695}.
Sequence Caution	Sequence=CAD97935.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Belongs to the CISD protein family. CISD2 subfamily. {ECO:0000305}.
Subcellular Location	Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion outer membrane; Single-pass membrane protein. Note=According to PubMed:20010695, it mainly localizes to the endoplasmic reticulum. However, experiments in mouse showed that it mainly localizes to the mitochondrion outer membrane.
Subunit	Homodimer. Interacts with BCL2; the interaction is direct and disrupted by BIK interaction with BCL2. Interacts with BCL2L1. Interacts with ITPR1. {ECO:0000269\|PubMed:19580816, ECO:0000269\|PubMed:20010695}.
Tissue Specificity	Testis, small intestine, kidney, lung, brain, heart, pancreas and platelets. {ECO:0000269\|PubMed:17846994}.