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CHCHD5 Gene

protein-coding   GIFtS: 45
GCID: GC02P113341

Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 5

(Previous name: chromosome 2 open reading frame 9)
(Previous symbol: C2orf9)
  Search for CHCHD5
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 51 2     MIC142
C2orf91 2 3     Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 52
Chromosome 2 Open Reading Frame 91     Mitochondrial Intermembrane Space Cysteine Motif Protein Of 14 KDa Homolog2
Mitochondrial Intermembrane Space Cysteine Motif Protein Of 14 KDa Homolog
(S. Cerevisiae)1
     

External Ids:    HGNC: 178401   Entrez Gene: 842692   Ensembl: ENSG000001256117   UniProtKB: Q9BSY43   

Export aliases for CHCHD5 gene to outside databases

Previous GC identifers: GC02P113437 GC02P113058 GC02P105796


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CHCHD5 Gene:
CHCHD5 (coiled-coil-helix-coiled-coil-helix domain containing 5) is a protein-coding gene.


(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)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHCHD5 gene promoter:
         AP-4   c-Ets-1   NF-YB   CBF-A   CBF-B   FOXO1a   CP1A   NF-Y   CBF(2)   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHCHD5 promoter sequence
   Search Chromatin IP Primers for CHCHD5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHCHD5


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

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q14.1

CHCHD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHCHD5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P113341:  view genomic region     (about GC identifiers)

Start:
113,341,817 bp from pter      End:
113,346,852 bp from pter
Size:
5,036 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CHCH5_HUMAN, Q9BSY4 (See protein sequence)
Recommended Name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 5  
Size: 110 amino acids; 12395 Da
Subunit: Monomer
1 PDB 3D structure from and Proteopedia for CHCHD5:
2LQL (3D)    
Secondary accessions: Q585T4

Explore the universe of human proteins at neXtProt for CHCHD5: NX_Q9BSY4

Explore proteomics data for CHCHD5 at MOPED


See CHCHD5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_115685.1  
ENSEMBL proteins: 
 ENSP00000325655   ENSP00000412731   ENSP00000386994  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
CHCHD: Coiled-coil-helix-coiled-coil-helix domain containing

1 InterPro protein domain:
 IPR010625 CHCH

Graphical View of Domain Structure for InterPro Entry Q9BSY4

ProtoNet protein and cluster: Q9BSY4

1 Blocks protein domain: IPB010625 CHCH

UniProtKB/Swiss-Prot: CHCH5_HUMAN, Q9BSY4
Similarity: Contains 1 CHCH domain


CHCHD5 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.)
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Phenotypes:
     6 GenomeRNAi human phenotypes for CHCHD5:
 Decreased viability with pacli  G2 arrest  Increased G2M DNA content, inc  Increased HPV18 LCR reporter a 
 Increased gamma-H2AX phosphory  Increased number of cells in m 

Animal Models:
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miRNA
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hsa-mir-92a-3p (MIRT049489)

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CHCH5_HUMAN, Q9BSY4: Mitochondrion intermembrane space (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
mitochondrion3
cytosol1
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005758mitochondrial intermembrane space IEA--

CHCHD5 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).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHCHD5
Interactions:

    Search GeneGlobe Interaction Network for CHCHD5

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for CHCHD5 (ENSP000003256554) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ZC3H14ENSP000002510384STRING: ENSP00000251038
About this table

(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)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CHCHD5 (CHCH5)



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CHCHD5 gene: 
NM_032309.2  

Unigene Cluster for CHCHD5:

Coiled-coil-helix-coiled-coil-helix domain containing 5
Hs.375707  [show with all ESTs]
Unigene Representative Sequence: AK024631
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000489052 ENST00000324913(uc002thz.1) ENST00000454841 ENST00000409719(uc002tia.2)
ENST00000469030
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat CHCHD5

Additional mRNA sequence: 

AK024631.1 AK312219.1 BC004498.2 

11 DOTS entries:

DT.453478  DT.87015011  DT.95372616  DT.100780138  DT.100780140  DT.91715213  DT.97770700  DT.95372613 
DT.434366  DT.91732061  DT.97845860 

Selected AceView cDNA sequences (see all 132):

BM694303 BX380845 BU688796 AI435438 BX400108 BI522654 CR625580 F03119 
CR621804 BF112002 AW468823 BM563093 AI885087 CK300573 AI885186 AW135293 
BI917104 AI749125 CD673527 AI472276 BU601472 BQ771639 BM694134 BG489819 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD5 (see all 6)    About this scheme

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1:                    -     -           -           -               
SP2:                          -           -           -               
SP3:                                      -           -               
SP4:                          -                       -               
SP5:                          -           -                           


ECgene alternative splicing isoforms for CHCHD5

(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)
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CHCHD5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGCCCGGCTT
CHCHD5 Expression
About this image

CHCHD5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CHCHD5 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.375707
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHCHD5

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for CHCHD5 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Chchd51 , 5 coiled-coil-helix-coiled-coil-helix domain containing more1, 5 85.76(n)1
90(a)1
  2 (62.72 cM)5
661701  NM_025395.31  NP_079671.11 
 1291297005 
chicken
(Gallus gallus)
Aves CHCHD51 coiled-coil-helix-coiled-coil-helix domain containing more 69.1(n)
60.42(a)
  770886  XM_004950823.1  XP_004950880.1 
lizard
(Anolis carolinensis)
Reptilia CHCHD56
coiled-coil-helix-coiled-coil-helix domain contain...
62(a)
1 ↔ 1
GL343198.1(4343420-4344829)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004951171 coiled-coil-helix-coiled-coil-helix domain-containing more 65.25(n)
60.64(a)
  100495117  XM_002933890.2  XP_002933936.1 
zebrafish
(Danio rerio)
Actinopterygii LOC1000006461 coiled-coil-helix-coiled-coil-helix domain-containing more 58.51(n)
47.87(a)
  100000646  XM_001334662.4  XP_001334698.1 


ENSEMBL Gene Tree for CHCHD5 (if available)
TreeFam Gene Tree for CHCHD5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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)
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Selected SNPs for CHCHD5 (see all 157)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1466573651,2
C--113340085(+) CGTAG-/AATTTT 1 -- us2k10--------
rs58334501,2
C--113340086(+) TTTTT-/T/TT  
        
GAGAC
1 -- us2k1 trp30--------
rs573390411,2
C--113340106(+) TTGAGG/ACAGAG 1 -- us2k11Minor allele frequency- A:0.50NA 2
rs1834747031,2
C--113340184(+) TCTCGC/TGCCTC 1 -- us2k10--------
rs348650091,2
C,F--113340189(+) TGCCTC/TAACCT 1 -- us2k14Minor allele frequency- T:0.11NA WA 242
rs1145817731,2
F--113340206(+) TAGCTC/TCAGGA 1 -- us2k11Minor allele frequency- T:0.05WA 118
rs1399870181,2
--113340240(+) TGGCTA/CATTTT 1 -- us2k10--------
rs1435073871,2
--113340412(+) TATGTA/CTTTGT 1 -- us2k10--------
rs1881930011,2
--113340497(+) CTCTTC/GAGCCT 1 -- us2k10--------
rs1915428001,2
--113340592(+) GTTAAC/TTTTTC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for CHCHD5 (113341817 - 113346852 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for CHCHD5:    About this table    
Variant IDTypeSubtypePubMed ID
esv2720537CNV Deletion23290073
nsv874877CNV Loss21882294
nsv458997CNV Gain19166990

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CHCHD5
DNA2.0 Custom Variant and Variant Library Synthesis for CHCHD5

(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.)
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CHCHD5 for disorders           About GeneDecksing

Genetic Association Database (GAD): CHCHD5

Export disorders for CHCHD5 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)
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PubMed articles for CHCHD5 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CHCHD5)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins. (PubMed id 22842048)1, 2, 3 Banci L.... Winkelmann J. (J. Struct. Biol. 2012)
  2. 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)
  3. 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)
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 84269 HGNC: 17840 AceView: CHCHD5 Ensembl:ENSG00000125611 euGenes: HUgn84269
ECgene: CHCHD5 H-InvDB: CHCHD5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CHCHD5 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CHCHD5 gene:
Search GeneIP for patents involving CHCHD5

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)
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 Search Tocris compounds for CHCHD5 (CHCH5)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHCHD5
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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