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CHCHD4 (coiled-coil-helix-coiled-coil-helix domain containing 4)

Identity

Alias_symbol (synonym)FLJ31709
TIMM40
MIA40
Other alias
HGNC (Hugo) CHCHD4
LocusID (NCBI) 131474
Atlas_Id 53675
Location 3p25.1  [Link to chromosome band 3p25]
Location_base_pair Starts at 14112077 and ends at 14124871 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHCHD4 (3p25.1) / BIRC6 (2p22.3)CHCHD4 (3p25.1) / CAV1 (7q31.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CHCHD4   26467
Cards
Entrez_Gene (NCBI)CHCHD4  131474  coiled-coil-helix-coiled-coil-helix domain containing 4
AliasesMIA40; TIMM40
GeneCards (Weizmann)CHCHD4
Ensembl hg19 (Hinxton)ENSG00000163528 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163528 [Gene_View]  chr3:14112077-14124871 [Contig_View]  CHCHD4 [Vega]
ICGC DataPortalENSG00000163528
TCGA cBioPortalCHCHD4
AceView (NCBI)CHCHD4
Genatlas (Paris)CHCHD4
WikiGenes131474
SOURCE (Princeton)CHCHD4
Genetics Home Reference (NIH)CHCHD4
Genomic and cartography
GoldenPath hg38 (UCSC)CHCHD4  -     chr3:14112077-14124871 -  3p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHCHD4  -     3p25.1   [Description]    (hg19-Feb_2009)
EnsemblCHCHD4 - 3p25.1 [CytoView hg19]  CHCHD4 - 3p25.1 [CytoView hg38]
Mapping of homologs : NCBICHCHD4 [Mapview hg19]  CHCHD4 [Mapview hg38]
OMIM611077   
Gene and transcription
Genbank (Entrez)AK056271 AK290764 BC017082 BC033775 DB452249
RefSeq transcript (Entrez)NM_001098502 NM_144636
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHCHD4
Cluster EST : UnigeneHs.517815 [ NCBI ]
CGAP (NCI)Hs.517815
Alternative Splicing GalleryENSG00000163528
Gene ExpressionCHCHD4 [ NCBI-GEO ]   CHCHD4 [ EBI - ARRAY_EXPRESS ]   CHCHD4 [ SEEK ]   CHCHD4 [ MEM ]
Gene Expression Viewer (FireBrowse)CHCHD4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)131474
GTEX Portal (Tissue expression)CHCHD4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N4Q1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N4Q1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N4Q1
Splice isoforms : SwissVarQ8N4Q1
PhosPhoSitePlusQ8N4Q1
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)CHCH   
Domain families : Pfam (Sanger)CHCH (PF06747)   
Domain families : Pfam (NCBI)pfam06747   
Conserved Domain (NCBI)CHCHD4
DMDM Disease mutations131474
Blocks (Seattle)CHCHD4
PDB (SRS)2K3J    2L0Y   
PDB (PDBSum)2K3J    2L0Y   
PDB (IMB)2K3J    2L0Y   
PDB (RSDB)2K3J    2L0Y   
Structural Biology KnowledgeBase2K3J    2L0Y   
SCOP (Structural Classification of Proteins)2K3J    2L0Y   
CATH (Classification of proteins structures)2K3J    2L0Y   
SuperfamilyQ8N4Q1
Human Protein AtlasENSG00000163528
Peptide AtlasQ8N4Q1
HPRD13045
IPIIPI00748354   IPI00177428   IPI00926001   
Protein Interaction databases
DIP (DOE-UCLA)Q8N4Q1
IntAct (EBI)Q8N4Q1
FunCoupENSG00000163528
BioGRIDCHCHD4
STRING (EMBL)CHCHD4
ZODIACCHCHD4
Ontologies - Pathways
QuickGOQ8N4Q1
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial intermembrane space  protein disulfide oxidoreductase activity  protein disulfide oxidoreductase activity  protein maturation by protein folding  protein import into mitochondrial intermembrane space  'de novo' posttranslational protein folding  oxidation-reduction process  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial intermembrane space  protein disulfide oxidoreductase activity  protein disulfide oxidoreductase activity  protein maturation by protein folding  protein import into mitochondrial intermembrane space  'de novo' posttranslational protein folding  oxidation-reduction process  
NDEx NetworkCHCHD4
Atlas of Cancer Signalling NetworkCHCHD4
Wikipedia pathwaysCHCHD4
Orthology - Evolution
OrthoDB131474
GeneTree (enSembl)ENSG00000163528
Phylogenetic Trees/Animal Genes : TreeFamCHCHD4
HOVERGENQ8N4Q1
HOGENOMQ8N4Q1
Homologs : HomoloGeneCHCHD4
Homology/Alignments : Family Browser (UCSC)CHCHD4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHCHD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHCHD4
dbVarCHCHD4
ClinVarCHCHD4
1000_GenomesCHCHD4 
Exome Variant ServerCHCHD4
ExAC (Exome Aggregation Consortium)CHCHD4 (select the gene name)
Genetic variants : HAPMAP131474
Genomic Variants (DGV)CHCHD4 [DGVbeta]
DECIPHERCHCHD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHCHD4 
Mutations
ICGC Data PortalCHCHD4 
TCGA Data PortalCHCHD4 
Broad Tumor PortalCHCHD4
OASIS PortalCHCHD4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHCHD4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHCHD4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CHCHD4
DgiDB (Drug Gene Interaction Database)CHCHD4
DoCM (Curated mutations)CHCHD4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHCHD4 (select a term)
intoGenCHCHD4
Cancer3DCHCHD4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611077   
Orphanet
MedgenCHCHD4
Genetic Testing Registry CHCHD4
NextProtQ8N4Q1 [Medical]
TSGene131474
GENETestsCHCHD4
Target ValidationCHCHD4
Huge Navigator CHCHD4 [HugePedia]
snp3D : Map Gene to Disease131474
BioCentury BCIQCHCHD4
ClinGenCHCHD4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD131474
Chemical/Pharm GKB GenePA134990707
Clinical trialCHCHD4
Miscellaneous
canSAR (ICR)CHCHD4 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHCHD4
EVEXCHCHD4
GoPubMedCHCHD4
iHOPCHCHD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:57:45 CEST 2017

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