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Aliases for CISD2 Gene

Aliases for CISD2 Gene

  • CDGSH Iron Sulfur Domain 2 2 3 5
  • Endoplasmic Reticulum Intermembrane Small Protein 2 3 4
  • Nutrient-Deprivation Autophagy Factor-1 2 3 4
  • Zinc Finger, CDGSH-Type Domain 2 2 3
  • MitoNEET-Related 1 Protein 3 4
  • Miner1 3 4
  • NAF-1 3 4
  • ZCD2 3 4
  • ERIS 3 4
  • MitoNEET Related 1 2
  • Wolfram Syndrome 2 2
  • CDGSH2 4
  • WFS2 3

External Ids for CISD2 Gene

Previous HGNC Symbols for CISD2 Gene

  • ZCD2
  • WFS2

Previous GeneCards Identifiers for CISD2 Gene

  • GC04P104010
  • GC04P103790
  • GC04P099526
  • GC04P102829

Summaries for CISD2 Gene

Entrez Gene Summary for CISD2 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. [provided by RefSeq, Mar 2011]

GeneCards Summary for CISD2 Gene

CISD2 (CDGSH Iron Sulfur Domain 2) is a Protein Coding gene. Diseases associated with CISD2 include Wolfram Syndrome 2 and Wolfram Syndrome. GO annotations related to this gene include poly(A) RNA binding and 2 iron, 2 sulfur cluster binding. An important paralog of this gene is CISD1.

UniProtKB/Swiss-Prot for CISD2 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CISD2 Gene

Genomics for CISD2 Gene

Regulatory Elements for CISD2 Gene

Enhancers for CISD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CISD2 on UCSC Golden Path with GeneCards custom track

Promoters for CISD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CISD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CISD2 Gene

Chromosome:
4
Start:
102,868,978 bp from pter
End:
102,892,807 bp from pter
Size:
23,830 bases
Orientation:
Plus strand

Genomic View for CISD2 Gene

Genes around CISD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CISD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CISD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CISD2 Gene

Proteins for CISD2 Gene

  • Protein details for CISD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5K1-CISD2_HUMAN
    Recommended name:
    CDGSH iron-sulfur domain-containing protein 2
    Protein Accession:
    Q8N5K1
    Secondary Accessions:
    • Q7Z3D5

    Protein attributes for CISD2 Gene

    Size:
    135 amino acids
    Molecular mass:
    15278 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • Homodimer. Interacts with BCL2; the interaction is direct and disrupted by BIK interaction with BCL2. Interacts with BCL2L1. Interacts with ITPR1.
    SequenceCaution:
    • Sequence=CAD97935.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CISD2 Gene

neXtProt entry for CISD2 Gene

Proteomics data for CISD2 Gene at MOPED

Post-translational modifications for CISD2 Gene

  • Ubiquitination at Lys 19 and Lys 95
  • Modification sites at PhosphoSitePlus

Other Protein References for CISD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CISD2 Gene

Domains & Families for CISD2 Gene

Gene Families for CISD2 Gene

Protein Domains for CISD2 Gene

Suggested Antigen Peptide Sequences for CISD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N5K1

UniProtKB/Swiss-Prot:

CISD2_HUMAN :
  • Belongs to the CISD protein family. CISD2 subfamily.
Family:
  • Belongs to the CISD protein family. CISD2 subfamily.
genes like me logo Genes that share domains with CISD2: view

Function for CISD2 Gene

Molecular function for CISD2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Redox potential: E is 0 +/- 10 mV for 2Fe-2S at pH 7.5. {ECO:0000269 PubMed:19580816};
UniProtKB/Swiss-Prot 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+) 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.

Gene Ontology (GO) - Molecular Function for CISD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20010695
genes like me logo Genes that share ontologies with CISD2: view
genes like me logo Genes that share phenotypes with CISD2: view

Human Phenotype Ontology for CISD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CISD2 Gene

MGI Knock Outs for CISD2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CISD2 Gene

Localization for CISD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CISD2 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion outer membrane; Single-pass membrane protein. Note=According to PubMed:20010695, it mainly localizes to the endoplasmic reticulum. However, experiments in mouse showed that it mainly localizes to the mitochondrion outer membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CISD2 Gene COMPARTMENTS Subcellular localization image for CISD2 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
extracellular 2
cytosol 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CISD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005741 mitochondrial outer membrane IEA,ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CISD2: view

Pathways & Interactions for CISD2 Gene

SuperPathways for CISD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CISD2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CISD2 Gene

Drugs & Compounds for CISD2 Gene

(1) Drugs for CISD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for CISD2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with CISD2: view

Transcripts for CISD2 Gene

mRNA/cDNA for CISD2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CISD2 Gene

CDGSH iron sulfur domain 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CISD2 Gene

No ASD Table

Relevant External Links for CISD2 Gene

GeneLoc Exon Structure for
CISD2
ECgene alternative splicing isoforms for
CISD2

Expression for CISD2 Gene

mRNA expression in normal human tissues for CISD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CISD2 Gene

This gene is overexpressed in Nasal epithelium (24.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CISD2 Gene



SOURCE GeneReport for Unigene cluster for CISD2 Gene Hs.745013

mRNA Expression by UniProt/SwissProt for CISD2 Gene

Q8N5K1-CISD2_HUMAN
Tissue specificity: Testis, small intestine, kidney, lung, brain, heart, pancreas and platelets.
genes like me logo Genes that share expression patterns with CISD2: view

Protein tissue co-expression partners for CISD2 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for CISD2 Gene

Orthologs for CISD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CISD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CISD2 35
  • 93.83 (n)
  • 100 (a)
CISD2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cisd2 35
  • 86.17 (n)
  • 96.3 (a)
Cisd2 16
Cisd2 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CISD2 35
  • 99.51 (n)
  • 99.26 (a)
CISD2 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cisd2 35
  • 86.42 (n)
  • 94.07 (a)
dog
(Canis familiaris)
Mammalia CISD2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CISD2 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CISD2 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves CISD2 35
  • 83.83 (n)
  • 95.52 (a)
CISD2 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cisd2 35
  • 77.04 (n)
  • 91.85 (a)
zebrafish
(Danio rerio)
Actinopterygii cisd2 35
  • 67.41 (n)
  • 80 (a)
cisd2 36
  • 79 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004484 35
  • 45.29 (n)
  • 39.69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1458 35
  • 49.87 (n)
  • 47.29 (a)
CG1458 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02B12.15 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2896 36
  • 41 (a)
OneToMany
Species with no ortholog for CISD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CISD2 Gene

ENSEMBL:
Gene Tree for CISD2 (if available)
TreeFam:
Gene Tree for CISD2 (if available)

Paralogs for CISD2 Gene

Paralogs for CISD2 Gene

(1) SIMAP similar genes for CISD2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for CISD2 Gene

genes like me logo Genes that share paralogs with CISD2: view

Variants for CISD2 Gene

Sequence variations from dbSNP and Humsavar for CISD2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs223315 -- 102,884,286(+) TATAC(C/T)CTTAG intron-variant
rs223316 -- 102,881,949(+) GACTT(C/T)GTGGG intron-variant
rs223317 -- 102,881,667(+) TTAAA(C/T)TGTAG intron-variant
rs223318 -- 102,881,422(+) gagag(A/G)aaatt intron-variant
rs223319 -- 102,881,157(+) tattt(C/T)atctt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CISD2 Gene

Variant ID Type Subtype PubMed ID
dgv1655e1 CNV Complex 17122850
dgv1656e1 CNV Complex 17122850
nsv879683 CNV Loss 21882294
nsv528680 CNV Loss 19592680
nsv461598 CNV Loss 19166990
esv2678594 CNV Deletion 23128226

Variation tolerance for CISD2 Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CISD2 Gene

Human Gene Mutation Database (HGMD)
CISD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CISD2 Gene

Disorders for CISD2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CISD2 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
wolfram syndrome 2
  • wfs2
wolfram syndrome
  • diabetes mellitus and insipidus with optic atrophy and deafness
waterhouse-friderichsen syndrome
  • wolfram syndrome
diabetes insipidus
optic atrophy plus syndrome
  • optic atrophy
- elite association - COSMIC cancer census association via MalaCards
Search CISD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CISD2_HUMAN
  • Wolfram syndrome 2 (WFS2) [MIM:604928]: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent. {ECO:0000269 PubMed:17846994}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CISD2

Genetic Association Database (GAD)
CISD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CISD2
genes like me logo Genes that share disorders with CISD2: view

No data available for Genatlas for CISD2 Gene

Publications for CISD2 Gene

  1. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. (PMID: 17846994) Amr S. … Shiang R. (Am. J. Hum. Genet. 2007) 2 3 4 67
  2. MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity. (PMID: 17376863) Wiley S.E. … Dixon J.E. (Proc. Natl. Acad. Sci. U.S.A. 2007) 2 3
  3. The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster. (PMID: 17584744) Wiley S.E. … Dixon J.E. (J. Biol. Chem. 2007) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for CISD2 Gene

Sources for CISD2 Gene

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