Gene Gene information from NCBI Gene database.
Entrez ID 493856
Gene name CDGSH iron sulfur domain 2
Gene symbol CISD2
Synonyms (NCBI Gene)
ERISMiner1NAF-1WFS2ZCD2
Chromosome 4
Chromosome location 4q24
Summary 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. [pr
miRNA miRNA information provided by mirtarbase database.
611
miRTarBase ID miRNA Experiments Reference
MIRT020662 hsa-miR-155-5p Proteomics 18668040
MIRT047175 hsa-miR-182-5p CLASH 23622248
MIRT037876 hsa-miR-455-3p CLASH 23622248
MIRT637825 hsa-miR-4731-3p HITS-CLIP 23824327
MIRT637824 hsa-miR-4801 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000422 Process Autophagy of mitochondrion IBA
GO:0000422 Process Autophagy of mitochondrion IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 20010695, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611507 24212 ENSG00000145354
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N5K1
Protein name CDGSH iron-sulfur domain-containing protein 2 (Endoplasmic reticulum intermembrane small protein) (MitoNEET-related 1 protein) (Miner1) (Nutrient-deprivation autophagy factor-1) (NAF-1)
Protein 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+)
PDB 3FNV , 4OO7 , 4OOA , 7P0P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10660 MitoNEET_N 1 66 Iron-containing outer mitochondrial membrane protein N-terminus Domain
PF09360 zf-CDGSH 69 115 Iron-binding zinc finger CDGSH type Domain
Tissue specificity TISSUE SPECIFICITY: Testis, small intestine, kidney, lung, brain, heart, pancreas and platelets. {ECO:0000269|PubMed:17846994}.
Sequence
Sequence length 135
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
20
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Wolfram syndrome 2 Pathogenic rs63749888, rs1578307302 RCV000000940
RCV000790904
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CISD2-related disorder Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign rs371712100, rs201461508, rs145312923, rs190212874 RCV004758909
RCV003963714
RCV003949920
RCV003940644
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 28928421
Adenocarcinoma of Lung Stimulate 28928421
Alstrom Syndrome Associate 28432734
Alzheimer Disease Associate 26154755
Blood Platelet Disorders Associate 25056293, 29237418
Breast Neoplasms Associate 34547371
Carcinogenesis Associate 28857517
Carcinoma Hepatocellular Associate 35436415
Cardiovascular Diseases Associate 28426722, 29556009
Colonic Neoplasms Associate 37304867