CISD3 Gene (Protein Coding)

CDGSH Iron Sulfur Domain 3

GC17P038730
GIFtS:
30
CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008] See more...

Aliases for CISD3 Gene

Aliases for CISD3 Gene

  • CDGSH Iron Sulfur Domain 3 2 3 5
  • Miner2 2 3 4
  • MiNT 2 3 4
  • CDGSH Iron-Sulfur Domain-Containing Protein 3, Mitochondrial 3 4
  • Mitochondrial Inner NEET Protein 3 4
  • MitoNEET-Related Protein 2 3 4
  • MitoNEET Related 2 2 3
  • CISD3 5

External Ids for CISD3 Gene

Previous GeneCards Identifiers for CISD3 Gene

  • GC17U900840
  • GC17P034138
  • GC17P036886
  • GC17P032655

Summaries for CISD3 Gene

Entrez Gene Summary for CISD3 Gene

  • CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008]

GeneCards Summary for CISD3 Gene

CISD3 (CDGSH Iron Sulfur Domain 3) is a Protein Coding gene. Diseases associated with CISD3 include Wolfram Syndrome 2 and Wolfram Syndrome. Gene Ontology (GO) annotations related to this gene include 2 iron, 2 sulfur cluster binding. An important paralog of this gene is CISD2.

UniProtKB/Swiss-Prot Summary for CISD3 Gene

  • Can transfer its iron-sulfur clusters to the apoferrodoxins FDX1 and FDX2. Contributes to mitochondrial iron homeostasis and in maintaining normal levels of free iron and reactive oxygen species, and thereby contributes to normal mitochondrial function.

Additional gene information for CISD3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CISD3 Gene

Genomics for CISD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CISD3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CISD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CISD3

Top Transcription factor binding sites by QIAGEN in the CISD3 gene promoter:
  • GATA-3
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • NF-1
  • NRSF form 1
  • NRSF form 2
  • Pax-5
  • ZIC2

Genomic Locations for CISD3 Gene

Latest Assembly
chr17:38,730,341-38,735,605
(GRCh38/hg38)
Size:
5,265 bases
Orientation:
Plus strand

Previous Assembly
chr17:36,886,594-36,891,858
(GRCh37/hg19 by Entrez Gene)
Size:
5,265 bases
Orientation:
Plus strand

Genomic View for CISD3 Gene

Genes around CISD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CISD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CISD3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CISD3 Gene

Proteins for CISD3 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for CISD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7P0-CISD3_HUMAN
    Recommended name:
    CDGSH iron-sulfur domain-containing protein 3, mitochondrial
    Protein Accession:
    P0C7P0

    Protein attributes for CISD3 Gene

    Size:
    127 amino acids
    Molecular mass:
    14216 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CISD3 Gene

neXtProt entry for CISD3 Gene

Protein Expression for CISD3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CISD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CISD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CISD3 Gene

Domains & Families for CISD3 Gene

Gene Families for CISD3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CISD3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CISD3 Gene

GenScript: Design optimal peptide antigens:
  • MitoNEET-related protein 2 (CISD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0C7P0

UniProtKB/Swiss-Prot:

CISD3_HUMAN :
  • Belongs to the CISD protein family.
Family:
  • Belongs to the CISD protein family.
genes like me logo Genes that share domains with CISD3: view

Function for CISD3 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for CISD3 Gene

UniProtKB/Swiss-Prot Function:
Can transfer its iron-sulfur clusters to the apoferrodoxins FDX1 and FDX2. Contributes to mitochondrial iron homeostasis and in maintaining normal levels of free iron and reactive oxygen species, and thereby contributes to normal mitochondrial function.

Phenotypes From GWAS Catalog for CISD3 Gene

Gene Ontology (GO) - Molecular Function for CISD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA,IDA 29259115
GO:0051536 iron-sulfur cluster binding IEA --
GO:0051537 2 iron, 2 sulfur cluster binding IDA 29259115
genes like me logo Genes that share ontologies with CISD3: view

Phenotypes for CISD3 Gene

GenomeRNAi human phenotypes for CISD3:
genes like me logo Genes that share phenotypes with CISD3: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CISD3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CISD3 Gene

Localization for CISD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CISD3 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CISD3 gene
Compartment Confidence
mitochondrion 5
extracellular 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CISD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 17376863
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with CISD3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CISD3 Gene

Pathways & Interactions for CISD3 Gene

PathCards logo

SuperPathways for CISD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CISD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0106034 protein maturation by [2Fe-2S] cluster transfer IDA 29259115
genes like me logo Genes that share ontologies with CISD3: view

No data available for Pathways by source and SIGNOR curated interactions for CISD3 Gene

Drugs & Compounds for CISD3 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for CISD3 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for CISD3 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CISD3

Alternative Splicing Database (ASD) splice patterns (SP) for CISD3 Gene

No ASD Table

Relevant External Links for CISD3 Gene

GeneLoc Exon Structure for
CISD3

Expression for CISD3 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CISD3 Gene

mRNA expression in normal human tissues for CISD3 Gene
mRNA expression by BioGPS for CISD3 GenemRNA expression by GTEx for CISD3 Gene

mRNA differential expression in normal tissues according to GTEx for CISD3 Gene

This gene is overexpressed in Liver (x4.9).

Protein differential expression in normal tissues from HIPED for CISD3 Gene

This gene is overexpressed in Liver (19.5) and Adrenal (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CISD3 Gene



Protein tissue co-expression partners for CISD3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CISD3

SOURCE GeneReport for Unigene cluster for CISD3 Gene:

Hs.713595

Evidence on tissue expression from TISSUES for CISD3 Gene

  • Nervous system(4.3)
  • Eye(2.5)
genes like me logo Genes that share expression patterns with CISD3: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CISD3 Gene

Orthologs for CISD3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CISD3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CISD3 30
  • 99.21 (n)
Cow
(Bos Taurus)
 Mammalia CISD3 30
  • 87.63 (n)
Mouse
(Mus musculus)
 Mammalia Cisd3 30 17
  • 85.98 (n)
Cisd3b 17
Dog
(Canis familiaris)
 Mammalia CISD3 30
  • 85.04 (n)
Species where no ortholog for CISD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CISD3 Gene

ENSEMBL:
Gene Tree for CISD3 (if available)
TreeFam:
Gene Tree for CISD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CISD3: view image

Paralogs for CISD3 Gene

Paralogs for CISD3 Gene

genes like me logo Genes that share paralogs with CISD3: view

Variants for CISD3 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CISD3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CISD3 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
nsv470585 CNV loss 18288195
nsv833438 CNV loss 17160897

Variation tolerance for CISD3 Gene

Gene Damage Index Score: 7.38; 81.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CISD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CISD3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CISD3 Gene

Disorders for CISD3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CISD3 Gene - From: COP

Disorder Aliases PubMed IDs
wolfram syndrome 2
  • wfs2
wolfram syndrome
  • diabetes insipidus and mellitus with optic atrophy and deafness
- elite association - COSMIC cancer census association via MalaCards
Search CISD3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CISD3

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CISD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CISD3 Gene

Publications for CISD3 Gene

  1. MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity. (PMID: 17376863) Wiley SE … Dixon JE (Proceedings of the National Academy of Sciences of the United States of America 2007) 2 3 4
  2. Structure of the human monomeric NEET protein MiNT and its role in regulating iron and reactive oxygen species in cancer cells. (PMID: 29259115) Lipper CH … Jennings PA (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 4
  3. The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster. (PMID: 17584744) Wiley SE … Dixon JE (The Journal of biological chemistry 2007) 2 3
  4. Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms. (PMID: 33060197) Gordon DE … Krogan NJ (Science (New York, N.Y.) 2020) 3
  5. A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. (PMID: 32353859) Gordon DE … Krogan NJ (Nature 2020) 3

ExternalLinks

View latest publications for CISD3 gene in Mastermind

Products for CISD3 Gene

Sources for CISD3 Gene