AlphaFold predicted structure
CISD2 · Q8N5K1
Mean pLDDT
90.4/ 100
Very high
135 residues
Confidence breakdown
- Very high(≥ 90)66%
- Confident(70–90)32%
- Low(50–70)2%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
CISD2
Chr 4q24CDGSH iron sulfur domain 2
- Aliases:
- Miner1, ERIS, NAF-1
- MANE:
- ENST00000273986.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalDiabetes with additional phenotypes suggestive of a monogenic aetiology
BIALLELIC, autosomal or pseudoautosomalFamilial diabetes
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMonogenic diabetes
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalOptic neuropathy
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Wolfram syndrome
0.73Wolfram syndrome 2
0.73hearing loss disorder
0.38atrial fibrillation
0.25migraine disorder
0.20type 2 diabetes mellitus
0.20hereditary disease
0.18type 1 diabetes mellitus
0.16Abnormality of the skeletal system
0.12diabetes mellitus
0.10
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
CDGSH iron-sulfur domain-containing protein 2
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