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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
  • CDGSH Iron-Sulfur Domain-Containing Protein 2 3
  • 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F102823 1.1 FANTOM5 ENCODE 33.6 -42.3 -42304 7.1 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC TBX21 CISD2 NFKB1 MANBA ACTR3BP4 DDX3P3 UBE2D3 LOC100419096 BDH2 LRRC37A15P SLC9B1
GH04F102814 0.2 ENCODE 33.3 -50.7 -50697 6.6 ZNF362 ESRRA WRNIP1 BHLHE40 GATA3 JUND SMARCA4 GATA2 PBX2 ZBTB33 MANBA CISD2 UBE2D3 SLC9B1 LOC105377348 LOC102723704
GH04F102808 0.7 ENCODE 32.2 -59.3 -59347 1.3 BHLHE40 FOS CISD2 MANBA UBE2D3 SLC9B1 LOC105377348 LOC102723704
GH04F102832 0.2 Ensembl 31.6 -36.4 -36378 0.8 TFAP4 SAP130 ARID4B RARA GATA2 NFE2 NR2F6 SMARCE1 GATAD2A SP5 CISD2 UBE2D3 GC04M102838 LOC105377348
GH04F102866 1.2 FANTOM5 ENCODE 22.3 +0.4 416 6.0 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 MANBA CISD2 NFKB1 BDH2 UBE2D3 PABPC1P7
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001246564 22 3201 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1

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

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:

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
GO:0042803 protein homodimerization activity IDA 19580816
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CISD2

Flow Cytometry 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:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane ISS --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 20010695
GO:0016020 membrane IEA,IDA 19946888
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0000422 mitophagy IEA --
GO:0006914 autophagy IEA --
GO:0010259 multicellular organism aging IEA,ISS --
GO:0010506 regulation of autophagy IMP 20010695
genes like me logo Genes that share ontologies with CISD2: view

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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CISD2

Flow Cytometry Products

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, MaxQB, and MOPED for CISD2 Gene



Protein tissue co-expression partners for CISD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CISD2 Gene:

CISD2

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

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
oppossum
(Monodelphis domestica)
Mammalia CISD2 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CISD2 34 35
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia CISD2 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CISD2 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CISD2 34 35
  • 93.83 (n)
rat
(Rattus norvegicus)
Mammalia Cisd2 34
  • 86.42 (n)
mouse
(Mus musculus)
Mammalia Cisd2 34 16 35
  • 86.17 (n)
chicken
(Gallus gallus)
Aves CISD2 34 35
  • 83.83 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cisd2 34
  • 77.04 (n)
zebrafish
(Danio rerio)
Actinopterygii cisd2 34 35
  • 67.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1458 34 35
  • 49.87 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004484 34
  • 45.29 (n)
worm
(Caenorhabditis elegans)
Secernentea W02B12.15 35
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2896 35
  • 41 (a)
OneToMany
Species where no ortholog for CISD2 was found in the sources mined by GeneCards:
  • 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
rs63749888 Pathogenic 102,885,221(+) TTTCA(C/G)AATGG nc-transcript-variant, reference, missense, utr-variant-3-prime
rs10009572 -- 102,886,595(+) TTTTT(A/T)AAAAt intron-variant
rs10020074 -- 102,883,037(+) cacca(C/T)gcccA intron-variant
rs10025625 -- 102,881,085(+) ACATA(C/T)ATCAA intron-variant
rs10452178 -- 102,892,161(+) TCAAG(C/T)GATCC intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2678594 CNV deletion 23128226
esv2759270 CNV gain 17122850
esv3569635 CNV loss 25503493
nsv461598 CNV loss 19166990
nsv528680 CNV loss 19592680
nsv594957 CNV loss 21841781
nsv594978 CNV loss 21841781
nsv950370 CNV duplication 24416366
nsv966304 CNV duplication 23825009

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CISD2

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

Disorders for CISD2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
wolfram syndrome 2
  • wfs2
wolfram syndrome
  • wolfram syndrome 1
diabetes insipidus
optic atrophy plus syndrome
  • 3-methylglutaconic aciduria type 3
- 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. 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 4 64
  2. 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 64
  3. Antagonism of Beclin 1-dependent autophagy by BCL-2 at the endoplasmic reticulum requires NAF-1. (PMID: 20010695) Chang N.C. … Shore G.C. (EMBO J. 2010) 3 4 64
  4. Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2. (PMID: 19580816) Conlan A.R. … Paddock M.L. (J. Mol. Biol. 2009) 3 4 64
  5. 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 64

Products for CISD2 Gene

Sources for CISD2 Gene

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