Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2)

Identity

Alias_namesC7orf17
chromosome 7 open reading frame 17
Other aliasMNRR1
NS2TP
PARK22
HGNC (Hugo) CHCHD2
LocusID (NCBI) 51142
Atlas_Id 55566
Location 7p11.2  [Link to chromosome band 7p11]
Location_base_pair Starts at 56101562 and ends at 56106630 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHCHD2 (7p11.2) / PHKG1 (7p11.2)

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)CHCHD2   21645
Cards
Entrez_Gene (NCBI)CHCHD2  51142  coiled-coil-helix-coiled-coil-helix domain containing 2
AliasesC7orf17; MNRR1; NS2TP; PARK22
GeneCards (Weizmann)CHCHD2
Ensembl hg19 (Hinxton)ENSG00000106153 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106153 [Gene_View]  chr7:56101562-56106630 [Contig_View]  CHCHD2 [Vega]
ICGC DataPortalENSG00000106153
TCGA cBioPortalCHCHD2
AceView (NCBI)CHCHD2
Genatlas (Paris)CHCHD2
WikiGenes51142
SOURCE (Princeton)CHCHD2
Genetics Home Reference (NIH)CHCHD2
Genomic and cartography
GoldenPath hg38 (UCSC)CHCHD2  -     chr7:56101562-56106630 -  7p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHCHD2  -     7p11.2   [Description]    (hg19-Feb_2009)
EnsemblCHCHD2 - 7p11.2 [CytoView hg19]  CHCHD2 - 7p11.2 [CytoView hg38]
Mapping of homologs : NCBICHCHD2 [Mapview hg19]  CHCHD2 [Mapview hg38]
OMIM616244   616710   
Gene and transcription
Genbank (Entrez)AA398444 AF078845 AI218619 AY605046 AY633613
RefSeq transcript (Entrez)NM_001320327 NM_016139
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHCHD2
Cluster EST : UnigeneHs.547257 [ NCBI ]
CGAP (NCI)Hs.547257
Alternative Splicing GalleryENSG00000106153
Gene ExpressionCHCHD2 [ NCBI-GEO ]   CHCHD2 [ EBI - ARRAY_EXPRESS ]   CHCHD2 [ SEEK ]   CHCHD2 [ MEM ]
Gene Expression Viewer (FireBrowse)CHCHD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51142
GTEX Portal (Tissue expression)CHCHD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6H1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6H1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6H1
Splice isoforms : SwissVarQ9Y6H1
PhosPhoSitePlusQ9Y6H1
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)CHCH   
Domain families : Pfam (Sanger)CHCH (PF06747)   
Domain families : Pfam (NCBI)pfam06747   
Conserved Domain (NCBI)CHCHD2
DMDM Disease mutations51142
Blocks (Seattle)CHCHD2
SuperfamilyQ9Y6H1
Human Protein AtlasENSG00000106153
Peptide AtlasQ9Y6H1
HPRD09879
IPIIPI00007673   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6H1
IntAct (EBI)Q9Y6H1
FunCoupENSG00000106153
BioGRIDCHCHD2
STRING (EMBL)CHCHD2
ZODIACCHCHD2
Ontologies - Pathways
QuickGOQ9Y6H1
Ontology : AmiGOprotein binding  nucleus  mitochondrion  mitochondrial intermembrane space  transcription, DNA-templated  mitochondrion organization  transcription factor binding  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  regulation of cellular response to hypoxia  
Ontology : EGO-EBIprotein binding  nucleus  mitochondrion  mitochondrial intermembrane space  transcription, DNA-templated  mitochondrion organization  transcription factor binding  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  regulation of cellular response to hypoxia  
NDEx NetworkCHCHD2
Atlas of Cancer Signalling NetworkCHCHD2
Wikipedia pathwaysCHCHD2
Orthology - Evolution
OrthoDB51142
GeneTree (enSembl)ENSG00000106153
Phylogenetic Trees/Animal Genes : TreeFamCHCHD2
HOVERGENQ9Y6H1
HOGENOMQ9Y6H1
Homologs : HomoloGeneCHCHD2
Homology/Alignments : Family Browser (UCSC)CHCHD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHCHD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHCHD2
dbVarCHCHD2
ClinVarCHCHD2
1000_GenomesCHCHD2 
Exome Variant ServerCHCHD2
ExAC (Exome Aggregation Consortium)CHCHD2 (select the gene name)
Genetic variants : HAPMAP51142
Genomic Variants (DGV)CHCHD2 [DGVbeta]
DECIPHERCHCHD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHCHD2 
Mutations
ICGC Data PortalCHCHD2 
TCGA Data PortalCHCHD2 
Broad Tumor PortalCHCHD2
OASIS PortalCHCHD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHCHD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHCHD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CHCHD2
DgiDB (Drug Gene Interaction Database)CHCHD2
DoCM (Curated mutations)CHCHD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHCHD2 (select a term)
intoGenCHCHD2
Cancer3DCHCHD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616244    616710   
Orphanet
MedgenCHCHD2
Genetic Testing Registry CHCHD2
NextProtQ9Y6H1 [Medical]
TSGene51142
GENETestsCHCHD2
Target ValidationCHCHD2
Huge Navigator CHCHD2 [HugePedia]
snp3D : Map Gene to Disease51142
BioCentury BCIQCHCHD2
ClinGenCHCHD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51142
Chemical/Pharm GKB GenePA134974636
Clinical trialCHCHD2
Miscellaneous
canSAR (ICR)CHCHD2 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHCHD2
EVEXCHCHD2
GoPubMedCHCHD2
iHOPCHCHD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:49:44 CEST 2017

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