Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
493856
Gene name Gene Name - the full gene name approved by the HGNC.
CDGSH iron sulfur domain 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CISD2
Synonyms (NCBI Gene) Gene synonyms aliases
ERIS, Miner1, NAF-1, WFS2, ZCD2
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q24
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611507 24212 ENSG00000145354
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Wolfram Syndrome wolfram syndrome 2 rs63749888, rs1578307302 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Associations from Text Mining Disease 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