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Aliases for CISD2 Gene

Aliases for CISD2 Gene

  • CDGSH Iron Sulfur Domain 2 2 3
  • Endoplasmic Reticulum Intermembrane Small Protein 2 3 4
  • Nutrient-Deprivation Autophagy Factor-1 2 3 4
  • ERIS 3 4 6
  • ZCD2 3 4 6
  • Zinc Finger, CDGSH-Type Domain 2 2 3
  • MitoNEET-Related 1 Protein 3 4
  • Miner1 3 4
  • NAF-1 3 4
  • WFS2 3 6
  • CDGSH Iron-Sulfur Domain-Containing Protein 2 3
  • MitoNEET Related 1 2
  • Wolfram Syndrome 2 2
  • CDGSH2 4

External Ids for CISD2 Gene

Previous Symbols for CISD2 Gene

  • ZCD2
  • WFS2

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 waterhouse-friderichsen syndrome and wolfram syndrome 2. GO annotations related to this gene include protein homodimerization activity 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

Genomic Location for CISD2 Gene

Start:
102,828,134 bp from pter
End:
102,892,807 bp from pter
Size:
64,674 bases
Orientation:
Plus strand

Genomic View for CISD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CISD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CISD2 Gene

Regulatory Elements 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; Note=Binds 1 [2Fe-2S] cluster.;
    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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys19 and Lys95

Other Protein References for CISD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CISD2 Gene

Domains for CISD2 Gene

Gene Families for CISD2 Gene

HGNC:
  • CISD :CDGSH iron sulfur domain containing

Protein Domains for CISD2 Gene

UniProtKB/Swiss-Prot:

CISD2_HUMAN
Family:
  • Belongs to the CISD protein family. CISD2 subfamily.:
    • Q8N5K1
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:0051537 2 iron, 2 sulfur cluster binding IDA 19580816
genes like me logo Genes that share ontologies with CISD2: view
genes like me logo Genes that share phenotypes with CISD2: view

Animal Models for CISD2 Gene

MGI Knock Outs for CISD2:

miRNA for CISD2 Gene

miRTarBase miRNAs that target CISD2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 ISS --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IDA 20010695
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CISD2: view

Pathways 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 mitochondrion degradation IEA --
GO:0010259 multicellular organismal aging 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 for CISD2 Gene

Compounds for CISD2 Gene

(2) HMDB Compounds for CISD2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Iron
  • Armco iron
7439-89-6
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

Integrated Proteomics: protein expression 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 expressions with CISD2: view

Orthologs for CISD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CISD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CISD2 36
  • 99.51 (n)
  • 99.26 (a)
CISD2 37
  • 72 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CISD2 36
  • 93.83 (n)
  • 100 (a)
CISD2 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CISD2 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cisd2 36
  • 86.17 (n)
  • 96.3 (a)
Cisd2 16
Cisd2 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CISD2 37
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CISD2 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cisd2 36
  • 86.42 (n)
  • 94.07 (a)
chicken
(Gallus gallus)
Aves CISD2 36
  • 83.83 (n)
  • 95.52 (a)
CISD2 37
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cisd2 36
  • 77.04 (n)
  • 91.85 (a)
zebrafish
(Danio rerio)
Actinopterygii cisd2 36
  • 67.41 (n)
  • 80 (a)
cisd2 37
  • 79 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004484 36
  • 45.29 (n)
  • 39.69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1458 36
  • 49.87 (n)
  • 47.29 (a)
CG1458 37
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02B12.15 37
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2896 37
  • 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

Selected 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 MAF
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

Relevant External Links for CISD2 Gene

HapMap Linkage Disequilibrium report
CISD2
Human Gene Mutation Database (HGMD)
CISD2
Locus Specific Mutation Databases (LSDB)
CISD2

Disorders for CISD2 Gene

(1) OMIM Diseases for CISD2 Gene (611507)

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.

(3) University of Copenhagen DISEASES for CISD2 Gene

Relevant External Links for CISD2

Genetic Association Database (GAD)
CISD2
genes like me logo Genes that share disorders with CISD2: view

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
  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
  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. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for CISD2 Gene

Sources for CISD2 Gene

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