Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CISD2 Gene

protein-coding   GIFtS: 49
GCID: GC04P103790

CDGSH Iron Sulfur Domain 2

(Previous names: zinc finger, CDGSH-type domain 2, Wolfram syndrome 2)
(Previous symbols: ZCD2, WFS2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
CDGSH Iron Sulfur Domain 21 2     Nutrient-Deprivation Autophagy Factor-12 3
ZCD21 2 3 5     Miner12 3
Endoplasmic Reticulum Intermembrane Small Protein1 2 3     NAF-12 3
WFS21 2 5     MitoNEET Related 11
ERIS2 3 5     Wolfram Syndrome 21
Zinc Finger, CDGSH-Type Domain 21 2     CDGSH Iron-Sulfur Domain-Containing Protein 22
MitoNEET-Related 1 Protein2 3     CDGSH23

External Ids:    HGNC: 242121   Entrez Gene: 4938562   Ensembl: ENSG000001453547   OMIM: 6115075   UniProtKB: Q8N5K13   

Export aliases for CISD2 gene to outside databases

Previous GC identifers: GC04P104010 GC04P099526


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 2 iron, 2 sulfur cluster binding and protein homodimerization activity. An important paralog of this gene is CISD1.

UniProtKB/Swiss-Prot: CISD2_HUMAN, Q8N5K1
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
Regulatory elements:
   Regulatory transcription factor binding sites in the CISD2 gene promoter:
         USF1   NF-E2 p45   CREB   E2F-1   E2F   HSF2   USF-1   deltaCREB   MRF-2   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCISD2 promoter sequence
   Search Chromatin IP Primers for CISD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CISD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q24

CISD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CISD2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P103790:  view genomic region     (about GC identifiers)

Start:
103,790,135 bp from pter      End:
103,813,964 bp from pter
Size:
23,830 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CISD2_HUMAN, Q8N5K1 (See protein sequence)
Recommended Name: CDGSH iron-sulfur domain-containing protein 2  
Size: 135 amino acids; 15278 Da
Cofactor: Binds 1 2Fe-2S cluster
Subunit: Homodimer. Interacts with BCL2; the interaction is direct and disrupted by BIK interaction with BCL2.
Interacts with BCL2L1. Interacts with ITPR1
Caution: Although initially thought (PubMed:17846994) to be a zinc-finger protein, it was later shown
(PubMed:17376863) that it binds 1 2Fe-2S cluster instead
Sequence caution: Sequence=CAD97935.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for CISD2:
3FNV (3D)    
Secondary accessions: Q7Z3D5

Explore the universe of human proteins at neXtProt for CISD2: NX_Q8N5K1

Explore proteomics data for CISD2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys19, Lys95
  • Modification sites at PhosphoSitePlus

  • See CISD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001008389.1  
    ENSEMBL proteins: 
     ENSP00000273986   ENSP00000458976   ENSP00000423716  

    CISD2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CISD2
    OriGene Protein Over-expression Lysate for CISD2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CISD2
    GenScript Custom Purified and Recombinant Proteins Services for CISD2
    Novus Biologicals CISD2 Protein
    Novus Biologicals CISD2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CISD2

    CISD2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CISD2
    OriGene Custom Antibody Services for CISD2
    Novus Biologicals CISD2 Antibodies
    Abcam antibodies for CISD2
    Cloud-Clone Corp. Antibodies for CISD2
    ThermoFisher Antibodies for CISD2
    LSBio Antibodies in human, mouse, rat for CISD2

    CISD2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CISD2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CISD2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CISD2
    Cloud-Clone Corp. CLIAs for CISD2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    CISD: CDGSH iron sulfur domain containing

    3 InterPro protein domains:
     IPR006622 FeS-contain_CDGSH-typ_subfam
     IPR019610 FeS-contain_mitoNEET_N
     IPR018967 FeS-contain_CDGSH-typ

    Graphical View of Domain Structure for InterPro Entry Q8N5K1

    ProtoNet protein and cluster: Q8N5K1

    UniProtKB/Swiss-Prot: CISD2_HUMAN, Q8N5K1
    Similarity: Belongs to the CISD protein family. CISD2 subfamily


    CISD2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CISD2_HUMAN, Q8N5K1
    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
    Biophysicochemical properties: Redox potential: E is 0 +/- 10 mV for 2Fe-2S at pH 7.5;

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0042803protein homodimerization activity IDA19580816
    GO:0044822poly(A) RNA binding IDA--
    GO:0046872metal ion binding IEA--
    GO:00515372 iron, 2 sulfur cluster binding IDA19580816
         
    CISD2 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cisd2) (see all 20):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     integument  mortality/aging  muscle  nervous system  other 

    CISD2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cisd2tm1Tfts for CISD2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CISD2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CISD2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CISD2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CISD2

    miRNA
    Products:
        
    miRTarBase miRNAs that target CISD2:
    hsa-mir-155-5p (MIRT020662), hsa-mir-182-5p (MIRT047175), hsa-mir-455-3p (MIRT037876)

    Block miRNA regulation of human, mouse, rat CISD2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CISD2 (see all 43):
    hsa-miR-548j hsa-miR-199a-3p hsa-miR-128 hsa-miR-3167 hsa-miR-3667-5p hsa-miR-208b hsa-miR-208a hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidCISD2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CISD2
    Predesigned siRNA for gene silencing in human, mouse, rat CISD2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CISD2

    Clone
    Products:
         
    OriGene clones in human, mouse for CISD2 (see all 7)
    OriGene ORF clones in mouse, rat for CISD2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CISD2 (NM_001008388)
    Sino Biological Human cDNA Clone for CISD2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CISD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CISD2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CISD2
    Browse ESI BIO Cell Lines and PureStem Progenitors for CISD2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CISD2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CISD2_HUMAN, Q8N5K1: 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: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    extracellular2
    cytosol1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005741mitochondrial outer membrane ISS--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane IDA--
    GO:0016021integral component of membrane IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    CISD2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CISD2
    Interactions:

        Search GeneGlobe Interaction Network for CISD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for CISD2 (Q8N5K13 ENSP000002739864) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GH1P012413, ENSP000003126734I2D: score=1 STRING: ENSP00000312673
    IKBKEQ141643I2D: score=1 
    BCL2ENSP000003296234STRING: ENSP00000329623
    AIFM3ENSP000003353694STRING: ENSP00000335369
    TMEM33ENSP000002644524STRING: ENSP00000264452
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000422mitochondrion degradation IEA--
    GO:0010259multicellular organismal aging ISS--
    GO:0010506regulation of autophagy IMP--

    CISD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CISD2

    2 HMDB Compounds for CISD2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    IronArmco iron (see all 19)7439-89-6--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CISD2 gene: 
    NM_001008388.4  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000273986(uc003hwt.4) ENST00000574446 ENST00000503643
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CISD2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CISD2 (see all 43):
    hsa-miR-548j hsa-miR-199a-3p hsa-miR-128 hsa-miR-3167 hsa-miR-3667-5p hsa-miR-208b hsa-miR-208a hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidCISD2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CISD2
    Predesigned siRNA for gene silencing in human, mouse, rat CISD2
    Clone
    Products:
         
    OriGene clones in human, mouse for CISD2 (see all 7)
    OriGene ORF clones in mouse, rat for CISD2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CISD2 (NM_001008388)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CISD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CISD2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CISD2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CISD2
      QuantiTect SYBR Green Assays in human, mouse, rat CISD2
      QuantiFast Probe-based Assays in human, mouse, rat CISD2

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    CISD2 expression in normal human tissues (normalized intensities)      CISD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAAATGCT
    CISD2 Expression
    About this image


    CISD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    CISD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CISD2 Protein Expression

    UniProtKB/Swiss-Prot: CISD2_HUMAN, Q8N5K1
    Tissue specificity: Testis, small intestine, kidney, lung, brain, heart, pancreas and platelets

        Custom PCR Arrays for CISD2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CISD2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CISD2
    QuantiTect SYBR Green Assays in human, mouse, rat CISD2
    QuantiFast Probe-based Assays in human, mouse, rat CISD2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CISD2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CISD2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cisd21 , 5 CDGSH iron sulfur domain 21, 5 86.17(n)1
    96.3(a)1
      3 (62.55 cM)5
    670061  NM_025902.31  NP_080178.11 
     1354064125 
    chicken
    (Gallus gallus)
    Aves CISD21 CDGSH iron sulfur domain 2 83.83(n)
    95.52(a)
      422714  XM_420668.4  XP_420668.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cisd21 CDGSH iron sulfur domain 2 77.04(n)
    91.85(a)
      496970  NM_001011479.1  NP_001011479.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cisd21 CDGSH iron sulfur domain 2 67.41(n)
    80(a)
      393354  NM_200383.1  NP_956677.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG14581 CG1458 49.87(n)
    47.29(a)
      43459  NM_143427.3  NP_651684.1 
    worm
    (Caenorhabditis elegans)
    Secernentea W02B12.156
    Protein W02B12.15, isoform b
    34(a)
    1 → many
    II(11468552-11469624) WBGene00044026


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CISD2 gene
    CISD12  
    1 SIMAP similar gene for CISD2 using alignment to 3 protein entries:     CISD2_HUMAN (see all proteins):
    CISD1

    CISD2 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for CISD2
    PGOHUM00000238741 PGOHUM00000248824 PGOHUM00000246378 PGOHUM00000240772


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CISD2 (see all 287)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs637498881,2
    Cpathogenic1103608724(+) TTTCAC/GAATGG 2 Q E mis10--------
    rs1419013861,2
    --99540393(+) ATATTA/CACCGT 1 -- int10--------
    rs1852136351,2
    --99540427(+) TATGCG/TTTAAT 1 -- int10--------
    rs1899106641,2
    --99540498(+) CCTGTA/GAGCAT 1 -- int10--------
    rs1819485051,2
    --99540780(+) TCTTCC/GTCCTG 1 -- int10--------
    rs1388558421,2
    C--99540819(+) TGCATG/TGCATA 1 -- int10--------
    rs1874099901,2
    --99540849(+) GAACTA/GTAAGT 1 -- int10--------
    rs1123188681,2
    C,F--99541078(+) GACAAA/TGTTCA 1 -- int13Minor allele frequency- T:0.05CSA WA 122
    rs782403141,2
    C,F--99541388(+) CAATAG/CTTAAA 1 -- int11Minor allele frequency- C:0.04EA 120
    rs1915724681,2
    --99541399(+) TAGTAC/TTATTA 1 -- int10--------

    HapMap Linkage Disequilibrium report for CISD2 (103790135 - 103813964 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CISD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678594CNV Deletion23128226
    nsv528680CNV Loss19592680
    nsv879683CNV Loss21882294
    nsv461598CNV Loss19166990
    dgv1656e1CNV Complex17122850
    dgv1655e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): CISD2
    Locus Specific Mutation Databases (LSDB): CISD2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CISD2
    DNA2.0 Custom Variant and Variant Library Synthesis for CISD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 611507   
    OMIM disorders: 604928  
    UniProtKB/Swiss-Prot: CISD2_HUMAN, Q8N5K1
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 10 diseases for CISD2:    About MalaCards
    waterhouse-friderichsen syndrome    wolfram syndrome 2    wolfram syndrome    optic atrophy
    diabetes insipidus    dementia    diabetes mellitus    malaria
    multiple myeloma    myeloma

    3 diseases from the University of Copenhagen DISEASES database for CISD2:
    Waterhouse-Friderichsen syndrome     Wolfram syndrome     Optic atrophy

    CISD2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CISD2

    Export disorders for CISD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for CISD2 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with CISD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. (PubMed id 17846994)1, 2, 3 Amr S.... Shiang R. (Am. J. Hum. Genet. 2007)
    2. MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity. (PubMed id 17376863)1, 2, 3 Wiley S.E.... Dixon J.E. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    3. Antagonism of Beclin 1-dependent autophagy by BCL-2 at the endoplasmic reticulum requires NAF-1. (PubMed id 20010695)1, 2 Chang N.C.... Shore G.C. (EMBO J. 2010)
    4. Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2. (PubMed id 19580816)1, 2 Conlan A.R.... Paddock M.L. (J. Mol. Biol. 2009)
    5. The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster. (PubMed id 17584744)1, 3 Wiley S.E.... Dixon J.E. (J. Biol. Chem. 2007)
    6. NAF-1 and mitoNEET are central to human breast cancer proliferation by maintaining mitochondrial homeostasis and promoting tumor growth. (PubMed id 23959881)1 Sohn Y.S....Mittler R. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. A yeast two-hybrid screen reveals that osteopontin associates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (Eur. J. Neurosci. 2012)
    9. A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells. (PubMed id 22412018)1 Roux K.J.... Burke B. (J. Cell Biol. 2012)
    10. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 493856 HGNC: 24212 Ensembl:ENSG00000145354 euGenes: HUgn493856 ECgene: CISD2
    H-InvDB: CISD2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CISD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CISD2 gene:
    Search GeneIP for patents involving CISD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for CISD2   OriGene RNAi products in human, mouse, rat for CISD2  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for CISD2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CISD2  
     OriGene qSTAR qPCR primer pairs in human, mouse for CISD2   OriGene Purified Protein for CISD2  
     OriGene ORF clones in mouse, rat for CISD2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CISD2   OriGene Custom Protein Services for CISD2  

     
     
     Block miRNA regulation of human, mouse, rat CISD2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CISD2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CISD2 Predesigned siRNA for gene silencing in human, mouse, rat CISD2
     QuantiFast Probe-based Assays in human, mouse, rat CISD2 QuantiTect SYBR Green Assays in human, mouse, rat CISD2
     Custom PCR Arrays for CISD2 Search Chromatin IP Primers for CISD2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CISD2  Search GeneGlobe Interaction Network for CISD2
     Regulatory tfbs in CISD2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CISD2 GenScript cDNA clones with any tag delivered in your preferred vector for CISD2
     GenScript Custom Assay Services for CISD2 GenScript Custom overexpressing Cell Line Services for CISD2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CISD2
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for CISD2
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CISD2 antibodies
     CISD2 proteins
     CISD2 lysates
     Antibodies for CISD2
     See all of Abcam's Antibodies, Kits and Proteins for CISD2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CISD2
     Antibodies for CISD2
     ELISAs for CISD2
     CLIAs for CISD2



     Browse ESI BIO Cell Lines and PureStem Progenitors for CISD2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CISD2
     SwitchGear 3'UTR luciferase reporter plasmids for CISD2
     SwitchGear Promoter luciferase reporter plasmids for CISD2
     ThermoFisher Antibodies for CISD2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CISD2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CISD2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CISD2
     LSBio Antibodies in human, mouse, rat for CISD2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CISD2 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4