Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CHCHD3 Gene

protein-coding   GIFtS: 50
GCID: GC07M132470

Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3

  Try our

disease database 

(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
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 31 2     Regulatory Subunit 221
Mitochondrial Inner Membrane Organizing System 31 2     PPP1R222
MINOS32 3     Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 3,
Mitochondrial2
Protein Phosphatase 11     Protein Phosphatase 1, Regulatory Subunit 222

External Ids:    HGNC: 219061   Entrez Gene: 549272   Ensembl: ENSG000001065547   OMIM: 6137485   UniProtKB: Q9NX633   

Export aliases for CHCHD3 gene to outside databases

Previous GC identifers: GC07M131885 GC07M131926 GC07M132120 GC07M126786


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

TryGeneCards Plus

GeneCards Summary for CHCHD3 Gene:
CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3) is a protein-coding gene. GO annotations related to this gene include phosphatase binding and RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription. An important paralog of this gene is CHCHD6.

UniProtKB/Swiss-Prot: CHCH3_HUMAN, Q9NX63
Function: Required for maintenance of mitochondrial crista integrity and mitochondrial function. May act as a
scaffolding protein that stabilizes protein complexes involved in crista architecture and protein import. Has
also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1
transcription




(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
RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHCHD3 gene promoter:
         Max1   Lmo2   STAT5A   RORalpha1   FOXO4   POU2F1a   c-Myb   FOXO1a   MRF-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHCHD3 promoter sequence
   Search Chromatin IP Primers for CHCHD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHCHD3


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

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q33

CHCHD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHCHD3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M132470:  view genomic region     (about GC identifiers)

Start:
132,469,623 bp from pter      End:
132,766,848 bp from pter
Size:
297,226 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 131,809,095-132,106,393     

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CHCH3_HUMAN, Q9NX63 (See protein sequence)
Recommended Name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial  
Size: 227 amino acids; 26152 Da
Subunit: Interacts with HSPA1A/HSPA1B and OPA1, preferentially with the soluble OPA1 form (By similarity).
Component of the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3 and associates with mitochondrial
outer membrane proteins SAMM50, MTX1 and MTX2. Interacts with CHCHD6

Explore the universe of human proteins at neXtProt for CHCHD3: NX_Q9NX63

Explore proteomics data for CHCHD3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys189
  • Modification sites at PhosphoSitePlus

  • See CHCHD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060282.1  
    ENSEMBL proteins: 
     ENSP00000262570   ENSP00000389297   ENSP00000410425   ENSP00000403467   ENSP00000440267  

    CHCHD3 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 CHCHD3
    OriGene Protein Over-expression Lysate for CHCHD3
    OriGene MassSpec for CHCHD3
    OriGene Custom Protein Services for CHCHD3
    GenScript Custom Purified and Recombinant Proteins Services for CHCHD3
    Novus Biologicals CHCHD3 Proteins
    Novus Biologicals CHCHD3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHCHD3

     
    Search eBioscience for Proteins for CHCHD3 

     
    antibodies-online proteins for CHCHD3 (5 products) 

     
    antibodies-online peptides for CHCHD3

    CHCHD3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CHCHD3
    OriGene Custom Antibody Services for CHCHD3
    Novus Biologicals CHCHD3 Antibodies
    Abcam antibodies for CHCHD3
    Cloud-Clone Corp. Antibodies for CHCHD3
    ThermoFisher Antibody for CHCHD3
    antibodies-online antibodies for CHCHD3 (15 products) 

    CHCHD3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CHCHD3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CHCHD3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CHCHD3
    Cloud-Clone Corp. CLIAs for CHCHD3
    Search eBioscience for ELISAs for CHCHD3 
    antibodies-online kits for CHCHD3 (3 products) 


    (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:
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits
    CHCHD: Coiled-coil-helix-coiled-coil-helix domain containing

    1 InterPro protein domain:
     IPR007964 DUF737

    Graphical View of Domain Structure for InterPro Entry Q9NX63

    ProtoNet protein and cluster: Q9NX63

    1 Blocks protein domain: IPB010625 CHCH

    UniProtKB/Swiss-Prot: CHCH3_HUMAN, Q9NX63
    Similarity: Contains 1 CHCH domain


    Find genes that share domains with CHCHD3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHCH3_HUMAN, Q9NX63
    Function: Required for maintenance of mitochondrial crista integrity and mitochondrial function. May act as a
    scaffolding protein that stabilizes protein complexes involved in crista architecture and protein import. Has
    also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1
    transcription

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001227RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA--
    GO:0005515protein binding IPI16189514
    GO:0019902phosphatase binding IDA19389623
    GO:0032947protein complex scaffold ISS--
         
    Find genes that share ontologies with CHCHD3           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Chchd3):
     mortality/aging 

    Find genes that share phenotypes with CHCHD3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CHCHD3

    miRNA
    Products:
        
    miRTarBase miRNAs that target CHCHD3:
    hsa-mir-423-3p (MIRT042475)

    Block miRNA regulation of human, mouse, rat CHCHD3 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate CHCHD3:
    hsa-miR-942 hsa-miR-875-3p hsa-miR-3148 hsa-miR-3174 hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidCHCHD3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CHCHD3
    Predesigned siRNA for gene silencing in human, mouse, rat CHCHD3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CHCHD3

    Clone
    Products:
         
    OriGene clones in human, mouse for CHCHD3 (see all 8)
    OriGene ORF clones in mouse, rat for CHCHD3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHCHD3 (NM_017812)
    Sino Biological Human cDNA Clone for CHCHD3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHCHD3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHCHD3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CHCHD3
    Browse ESI BIO Cell Lines and PureStem Progenitors for CHCHD3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHCHD3


    (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
    CHCH3_HUMAN, Q9NX63: Mitochondrion inner membrane; Lipid-anchor; Intermembrane side (By similarity). Cytoplasm.
    Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol2
    extracellular2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ISS--
    GO:0005743mitochondrial inner membrane ISS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CHCHD3           About GenesLikeMe


    (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 CHCHD3
    Interactions:

        Search GeneGlobe Interaction Network for CHCHD3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for CHCHD3 (Q9NX631, 2, 3 ENSP000002625704) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158341, 2, 3, ENSP000003116954EBI-743375,EBI-739674 MINT-66631 I2D: score=6 STRING: ENSP00000311695
    SAMM50Q9Y5122, 3, ENSP000003454454MINT-5007196 I2D: score=1 STRING: ENSP00000345445
    NUDT3O959892, 3MINT-8264700 I2D: score=2 
    KRTAP4-12Q9BQ662, 3, ENSP000003775824MINT-66335 I2D: score=5 STRING: ENSP00000377582
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA--
    GO:0007007inner mitochondrial membrane organization IMP--
    GO:0008053mitochondrial fusion IMP--

    Find genes that share ontologies with CHCHD3           About GenesLikeMe



    (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 CHCHD3 (CHCH3)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CHCHD3 gene: 
    NM_017812.2  

    Unigene Cluster for CHCHD3:

    Coiled-coil-helix-coiled-coil-helix domain containing 3
    Hs.655010  [show with all ESTs]
    Unigene Representative Sequence: BC011596
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262570(uc003vre.3 uc010lmi.3 uc022alw.1) ENST00000448878
    ENST00000476546 ENST00000496427 ENST00000423635 ENST00000466644 ENST00000481152
    ENST00000457942 ENST00000542753(uc011kpn.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CHCHD3 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate CHCHD3:
    hsa-miR-942 hsa-miR-875-3p hsa-miR-3148 hsa-miR-3174 hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidCHCHD3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CHCHD3
    Predesigned siRNA for gene silencing in human, mouse, rat CHCHD3
    Clone
    Products:
         
    OriGene clones in human, mouse for CHCHD3 (see all 8)
    OriGene ORF clones in mouse, rat for CHCHD3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHCHD3 (NM_017812)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHCHD3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHCHD3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CHCHD3
    OriGene qSTAR qPCR primer pairs in human, mouse for CHCHD3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHCHD3
      QuantiTect SYBR Green Assays in human, mouse, rat CHCHD3
      QuantiFast Probe-based Assays in human, mouse, rat CHCHD3

    Additional mRNA sequence: 

    AK000427.1 AK129533.1 AK294071.1 AK310236.1 BC011596.2 BC014839.1 

    22 DOTS entries:

    DT.418327  DT.92447275  DT.92447264  DT.100027907  DT.100793380  DT.121098384  DT.121098513  DT.91638969 
    DT.100714450  DT.121417369  DT.100793378  DT.100793379  DT.108488  DT.100793383  DT.100793382  DT.121098314 
    DT.40213419  DT.75141800  DT.92447263  DT.95139015  DT.121098316  DT.91925398 

    Selected AceView cDNA sequences (see all 350):

    BM794131 BQ231086 AA812550 BM846708 BM480102 BG193548 CA443157 F37048 
    AA879072 AA676923 BM993282 AL698285 BQ009630 AI301928 BX381047 AW572327 
    AL702446 BF308534 BF971358 BE889105 BU727490 BQ050533 BQ637857 AA306737 

    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

    CHCHD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGTTTTGT
    CHCHD3 Expression
    About this image

    CHCHD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHCHD3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655010

    UniProtKB/Swiss-Prot: CHCH3_HUMAN, Q9NX63
    Tissue specificity: Detected at low levels in brain, placenta, lung, liver, kidney and pancreas with increased
    levels in heart and skeletal muscle. Higher expression in primary lung cancers than in normal lung tissue

        Custom PCR Arrays for CHCHD3
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CHCHD3
    OriGene qSTAR qPCR primer pairs in human, mouse for CHCHD3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHCHD3
    QuantiTect SYBR Green Assays in human, mouse, rat CHCHD3
    QuantiFast Probe-based Assays in human, mouse, rat CHCHD3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHCHD3

    (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 chordates.

    Orthologs for CHCHD3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chchd31 , 5 coiled-coil-helix-coiled-coil-helix domain containing more1, 5 87.52(n)1
    90.31(a)1
      6 (13.97 cM)5
    660751  NM_025336.11  NP_079612.11 
     327909765 
    chicken
    (Gallus gallus)
    Aves CHCHD31 coiled-coil-helix-coiled-coil-helix domain containing more 76.64(n)
    74.11(a)
      418435  XM_416646.4  XP_416646.3 
    lizard
    (Anolis carolinensis)
    Reptilia CHCHD36
    coiled-coil-helix-coiled-coil-helix domain contain...
    66(a)
    1 ↔ 1
    5(2601265-2829443)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD328491.12   -- 73.44(n)    CD328491.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY391426.12   -- 76.16(n)    AY391426.1 


    ENSEMBL Gene Tree for CHCHD3 (if available)
    TreeFam Gene Tree for CHCHD3 (if available)

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

    TryGeneCards Plus
    Paralogs for CHCHD3 gene
    CHCHD62  
    1 SIMAP similar gene for CHCHD3 using alignment to 6 protein entries:     CHCH3_HUMAN (see all proteins):
    CHCHD6

    Find genes that share paralogs with CHCHD3           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for CHCHD3
    PGOHUM00000238673 PGOHUM00000239851 PGOHUM00000243946 PGOHUM00000233464


    (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 CHCHD3 (see all 5094)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs13184621,2
    C--132469144(+) ACCTTC/TTCATT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1880066701,2
    --132469166(+) TGACTA/GCTTAT 1 -- int10--------
    rs13184601,2
    C,F,A,H--132469174(+) TATTTC/ACAACT 1 -- int135Minor allele frequency- A:0.33NA EA NS CSA WA 3439
    rs13184611,2
    C,F,A--132469266(+) AAAAAT/CTGGAA 1 -- int117Minor allele frequency- C:0.34NA EA WA 1119
    rs11142621,2
    C,F,H--132469331(+) TGCAGG/AGTCAG 1 -- int122Minor allele frequency- A:0.09NA EA NS 1981
    rs1925863291,2
    --132469417(+) GTTCAC/TACAAT 1 -- int10--------
    rs1501893941,2
    --132469431(+) TAAAGA/TTCTTC 1 -- int10--------
    rs1855557661,2
    --132469463(+) GGCAAA/GTTATA 1 -- int10--------
    rs1892125471,2
    --132469822(+) CACCAC/TAATAA 1 -- ut310--------
    rs1478678251,2
    --132469851(+) TTACAC/TAATCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CHCHD3 (132469623 - 132719623 bp, first 250kb of CHCHD3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CHCHD3 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677444CNV Deletion23128226
    esv1285918CNV Deletion17803354
    esv2735169CNV Deletion23290073
    nsv507419CNV Insertion20534489
    nsv511991CNV Loss21212237
    nsv525206CNV Loss19592680
    nsv831142CNV Gain17160897
    nsv515919CNV Gain19592680
    nsv889209CNV Gain21882294
    dgv7493n71CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHCHD3
    DNA2.0 Custom Variant and Variant Library Synthesis for CHCHD3

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

    TryGeneCards Plus
    OMIM gene information: 613748    OMIM disorders: --


    Find genes that share disorders with CHCHD3           About GenesLikeMe

    Genetic Association Database (GAD): CHCHD3
    Human Genome Epidemiology (HuGE) Navigator: CHCHD3 (3 documents)

    Export disorders for CHCHD3 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 CHCHD3 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with CHCHD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function. (PubMed id 21081504)1, 2, 3 Darshi M.... Taylor S.S. (J. Biol. Chem. 2011)
    2. MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization. (PubMed id 22114354)1, 2 Alkhaja A.K.... Deckers M. (Mol. Biol. Cell 2012)
    3. Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space. (PubMed id 23019327)1, 3 Darshi M....Taylor S.S. (J. Biol. Chem. 2012)
    4. Sam50 functions in mitochondrial intermembrane space bridging and biogenesis of respiratory complexes. (PubMed id 22252321)1, 3 Ott C....Kozjak-Pavlovic V. (Mol. Cell. Biol. 2012)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    8. The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil- helix domain-containing protein 3 and 6 and DnaJC11. (PubMed id 17624330)1, 3 Xie J.... Capaldi R.A. (FEBS Lett. 2007)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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: 54927 HGNC: 21906 AceView: CHCHD3 Ensembl:ENSG00000106554 euGenes: HUgn54927
    ECgene: CHCHD3 H-InvDB: CHCHD3

    (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 CHCHD3 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 CHCHD3 gene:
    Search GeneIP for patents involving CHCHD3

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 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 CHCHD3   OriGene RNAi products in human, mouse, rat for CHCHD3  
     OriGene qPCR primer pairs and template standards for CHCHD3   OriGene Protein Over-expression Lysate for CHCHD3  
     OriGene MassSpec for CHCHD3   OriGene clones in human, mouse for CHCHD3  
     OriGene qSTAR qPCR primer pairs in human, mouse for CHCHD3   OriGene Purified Protein for CHCHD3  
     OriGene ORF clones in mouse, rat for CHCHD3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CHCHD3   OriGene Custom Protein Services for CHCHD3  

     
     
     Block miRNA regulation of human, mouse, rat CHCHD3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CHCHD3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHCHD3 Predesigned siRNA for gene silencing in human, mouse, rat CHCHD3
     QuantiFast Probe-based Assays in human, mouse, rat CHCHD3 QuantiTect SYBR Green Assays in human, mouse, rat CHCHD3
     Custom PCR Arrays for CHCHD3 Search Chromatin IP Primers for CHCHD3
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHCHD3  Search GeneGlobe Interaction Network for CHCHD3
     Regulatory tfbs in CHCHD3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CHCHD3 GenScript cDNA clones with any tag delivered in your preferred vector for CHCHD3
     GenScript Custom Assay Services for CHCHD3 GenScript Custom overexpressing Cell Line Services for CHCHD3
     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 CHCHD3 (CHCH3)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for CHCHD3
     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
     CHCHD3 antibodies
     CHCHD3 proteins
     CHCHD3 lysates
     Antibodies for CHCHD3
     See all of Abcam's Antibodies, Kits and Proteins for CHCHD3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CHCHD3
     Antibodies for CHCHD3
     ELISAs for CHCHD3
     CLIAs for CHCHD3



     Browse ESI BIO Cell Lines and PureStem Progenitors for CHCHD3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHCHD3
     SwitchGear 3'UTR luciferase reporter plasmids for CHCHD3
     SwitchGear Promoter luciferase reporter plasmids for CHCHD3
     ThermoFisher Antibody for CHCHD3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHCHD3
     Browse compounds at ApexBio
     Search Addgene for plasmids for CHCHD3
      Search eBioscience for proteins for CHCHD3
      Search eBioscience for elisas for CHCHD3
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for CHCHD3
     antibodies-online antibodies for CHCHD3 (15 products)
     antibodies-online kits for CHCHD3 (3 products)
     antibodies-online peptides for CHCHD3
     antibodies-online proteins for CHCHD3 (5 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 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      CHCHD3 gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4