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

Identity

Alias (NCBI)MIA40
TIMM40
HGNC (Hugo) CHCHD4
HGNC Alias symbFLJ31709
TIMM40
MIA40
HGNC Alias nametranslocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)
 mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)
LocusID (NCBI) 131474
Atlas_Id 53675
Location 3p25.1  [Link to chromosome band 3p25]
Location_base_pair Starts at 14112077 and ends at 14124870 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    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]  ENSG00000163528 [Sequence]  chr3:14112077-14124870 [Contig_View]  CHCHD4 [Vega]
ICGC DataPortalENSG00000163528
TCGA cBioPortalCHCHD4
AceView (NCBI)CHCHD4
Genatlas (Paris)CHCHD4
SOURCE (Princeton)CHCHD4
Genetics Home Reference (NIH)CHCHD4
Genomic and cartography
GoldenPath hg38 (UCSC)CHCHD4  -     chr3:14112077-14124870 -  3p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHCHD4  -     3p25.1   [Description]    (hg19-Feb_2009)
GoldenPathCHCHD4 - 3p25.1 [CytoView hg19]  CHCHD4 - 3p25.1 [CytoView hg38]
ImmunoBaseENSG00000163528
Genome Data Viewer NCBICHCHD4 [Mapview hg19]  
OMIM611077   
Gene and transcription
Genbank (Entrez)AK056271 AK290764 BC017082 BC033775 DB452249
RefSeq transcript (Entrez)NM_001098502 NM_144636
Consensus coding sequences : CCDS (NCBI)CHCHD4
Gene ExpressionCHCHD4 [ NCBI-GEO ]   CHCHD4 [ EBI - ARRAY_EXPRESS ]   CHCHD4 [ SEEK ]   CHCHD4 [ MEM ]
Gene Expression Viewer (FireBrowse)CHCHD4 [ Firebrowse - Broad ]
GenevisibleExpression of CHCHD4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)131474
GTEX Portal (Tissue expression)CHCHD4
Human Protein AtlasENSG00000163528-CHCHD4 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8N4Q1
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)CHCH    CHCHD4   
Domain families : Pfam (Sanger)CHCH (PF06747)   
Domain families : Pfam (NCBI)pfam06747   
Conserved Domain (NCBI)CHCHD4
PDB (RSDB)2K3J    2L0Y   
PDB Europe2K3J    2L0Y   
PDB (PDBSum)2K3J    2L0Y   
PDB (IMB)2K3J    2L0Y   
Structural Biology KnowledgeBase2K3J    2L0Y   
SCOP (Structural Classification of Proteins)2K3J    2L0Y   
CATH (Classification of proteins structures)2K3J    2L0Y   
SuperfamilyQ8N4Q1
AlphaFold pdb e-kbQ8N4Q1   
Human Protein Atlas [tissue]ENSG00000163528-CHCHD4 [tissue]
HPRD13045
Protein Interaction databases
DIP (DOE-UCLA)Q8N4Q1
IntAct (EBI)Q8N4Q1
BioGRIDCHCHD4
STRING (EMBL)CHCHD4
ZODIACCHCHD4
Ontologies - Pathways
QuickGOQ8N4Q1
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial intermembrane space  mitochondrial intermembrane space  protein-disulfide reductase activity  protein-disulfide reductase activity  protein-disulfide reductase activity  peptidyl-cysteine oxidation  protein maturation by protein folding  protein maturation by protein folding  mitochondrial respiratory chain complex assembly  protein import into mitochondrial intermembrane space  protein import into mitochondrial intermembrane space  'de novo' posttranslational protein folding  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial intermembrane space  mitochondrial intermembrane space  protein-disulfide reductase activity  protein-disulfide reductase activity  protein-disulfide reductase activity  peptidyl-cysteine oxidation  protein maturation by protein folding  protein maturation by protein folding  mitochondrial respiratory chain complex assembly  protein import into mitochondrial intermembrane space  protein import into mitochondrial intermembrane space  'de novo' posttranslational protein folding  
NDEx NetworkCHCHD4
Atlas of Cancer Signalling NetworkCHCHD4
Wikipedia pathwaysCHCHD4
Orthology - Evolution
OrthoDB131474
GeneTree (enSembl)ENSG00000163528
Phylogenetic Trees/Animal Genes : TreeFamCHCHD4
Homologs : HomoloGeneCHCHD4
Homology/Alignments : Family Browser (UCSC)CHCHD4
Gene fusions - Rearrangements
Fusion : QuiverCHCHD4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHCHD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHCHD4
dbVarCHCHD4
ClinVarCHCHD4
MonarchCHCHD4
1000_GenomesCHCHD4 
Exome Variant ServerCHCHD4
GNOMAD BrowserENSG00000163528
Varsome BrowserCHCHD4
ACMGCHCHD4 variants
VarityQ8N4Q1
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]  
Somatic Mutations in Cancer : COSMIC3DCHCHD4
Mutations and Diseases : HGMDCHCHD4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCHCHD4
DgiDB (Drug Gene Interaction Database)CHCHD4
DoCM (Curated mutations)CHCHD4
CIViC (Clinical Interpretations of Variants in Cancer)CHCHD4
Cancer3DCHCHD4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611077   
Orphanet
DisGeNETCHCHD4
MedgenCHCHD4
Genetic Testing Registry CHCHD4
NextProtQ8N4Q1 [Medical]
GENETestsCHCHD4
Target ValidationCHCHD4
Huge Navigator CHCHD4 [HugePedia]
ClinGenCHCHD4
Clinical trials, drugs, therapy
MyCancerGenomeCHCHD4
Protein Interactions : CTDCHCHD4
Pharm GKB GenePA134990707
PharosQ8N4Q1
Clinical trialCHCHD4
Miscellaneous
canSAR (ICR)CHCHD4
HarmonizomeCHCHD4
DataMed IndexCHCHD4
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCHCHD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:03:48 CEST 2021

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