Description: Homo sapiens CDGSH iron sulfur domain 2 (CISD2), mRNA. RefSeq Summary (NM_001008388): The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr4:103,790,135-103,813,963 Size: 23,829 Total Exon Count: 3 Strand: + Coding Region Position: hg19 chr4:103,790,242-103,808,587 Size: 18,346 Coding Exon Count: 3
ID:CISD2_HUMAN DESCRIPTION: RecName: Full=CDGSH iron-sulfur domain-containing protein 2; AltName: Full=Endoplasmic reticulum intermembrane small protein; AltName: Full=MitoNEET-related 1 protein; Short=Miner1; AltName: Full=Nutrient-deprivation autophagy factor-1; Short=NAF-1; 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. COFACTOR: Binds 1 2Fe-2S cluster. BIOPHYSICOCHEMICAL PROPERTIES: Redox potential: E is 0 +/- 10 mV for 2Fe-2S at pH 7.5; SUBUNIT: Homodimer. Interacts with BCL2; the interaction is direct and disrupted by BIK interaction with BCL2. Interacts with BCL2L1. Interacts with ITPR1. 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. TISSUE SPECIFICITY: Testis, small intestine, kidney, lung, brain, heart, pancreas and platelets. DISEASE: Defects in CISD2 are the cause of Wolfram syndrome type 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. SIMILARITY: Belongs to the CISD protein family. CISD2 subfamily. 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. SEQUENCE CAUTION: Sequence=CAD97935.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8N5K1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
