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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Wolfram syndrome 2 Pathogenic rs63749888, rs1578307302 RCV000000940
RCV000790904
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CISD2-related disorder Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28928421
★☆☆☆☆
Found in Text Mining only
Alstrom Syndrome Alstrom syndrome Pubtator 28432734 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26154755 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 30943264
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 11317648, 28335035
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 25056293, 29237418 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23959881, 27621439, 30774867
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34547371 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28857517 Associate
★☆☆☆☆
Found in Text Mining only