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MFN2 (mitofusin 2)

Identity

Alias_symbol (synonym)CPRP1
KIAA0214
MARF
CMT2A2
Other aliasCMT2A
CMT2A2A
CMT2A2B
HMSN6A
HSG
HGNC (Hugo) MFN2
LocusID (NCBI) 9927
Atlas_Id 41345
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 11980181 and ends at 12013515 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)
ERRFI1 (1p36.23) / MFN2 (1p36.22)MFN2 (1p36.22) / KIAA0825 (5q15)MFN2 (1p36.22) / MFN2 (1p36.22)
MFN2 (1p36.22) / PLOD1 (1p36.22)TMEM97 (17q11.2) / MFN2 (1p36.22)MFN2 1p36.22 / PLOD1 1p36.22

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)MFN2   16877
LRG (Locus Reference Genomic)LRG_255
Cards
Entrez_Gene (NCBI)MFN2  9927  mitofusin 2
AliasesCMT2A; CMT2A2; CMT2A2A; CMT2A2B; 
CPRP1; HMSN6A; HSG; MARF
GeneCards (Weizmann)MFN2
Ensembl hg19 (Hinxton)ENSG00000116688 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116688 [Gene_View]  chr1:11980181-12013515 [Contig_View]  MFN2 [Vega]
ICGC DataPortalENSG00000116688
TCGA cBioPortalMFN2
AceView (NCBI)MFN2
Genatlas (Paris)MFN2
WikiGenes9927
SOURCE (Princeton)MFN2
Genetics Home Reference (NIH)MFN2
Genomic and cartography
GoldenPath hg38 (UCSC)MFN2  -     chr1:11980181-12013515 +  1p36.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MFN2  -     1p36.22   [Description]    (hg19-Feb_2009)
EnsemblMFN2 - 1p36.22 [CytoView hg19]  MFN2 - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBIMFN2 [Mapview hg19]  MFN2 [Mapview hg38]
OMIM601152   608507   609260   617087   
Gene and transcription
Genbank (Entrez)AF036536 AI857365 AK001189 AK021947 AK022453
RefSeq transcript (Entrez)NM_001127660 NM_014874
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MFN2
Cluster EST : UnigeneHs.376681 [ NCBI ]
CGAP (NCI)Hs.376681
Alternative Splicing GalleryENSG00000116688
Gene ExpressionMFN2 [ NCBI-GEO ]   MFN2 [ EBI - ARRAY_EXPRESS ]   MFN2 [ SEEK ]   MFN2 [ MEM ]
Gene Expression Viewer (FireBrowse)MFN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9927
GTEX Portal (Tissue expression)MFN2
Human Protein AtlasENSG00000116688-MFN2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95140   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95140  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95140
Splice isoforms : SwissVarO95140
Catalytic activity : Enzyme3.6.5.- [ Enzyme-Expasy ]   3.6.5.-3.6.5.- [ IntEnz-EBI ]   3.6.5.- [ BRENDA ]   3.6.5.- [ KEGG ]   
PhosPhoSitePlusO95140
Domaine pattern : Prosite (Expaxy)G_DYNAMIN_2 (PS51718)   
Domains : Interpro (EBI)Dynamin_SF    Fzo/mitofusin_HR2    G_DYNAMIN_dom    Mitofusin-2    P-loop_NTPase   
Domain families : Pfam (Sanger)Dynamin_N (PF00350)    Fzo_mitofusin (PF04799)   
Domain families : Pfam (NCBI)pfam00350    pfam04799   
Conserved Domain (NCBI)MFN2
DMDM Disease mutations9927
Blocks (Seattle)MFN2
SuperfamilyO95140
Human Protein Atlas [tissue]ENSG00000116688-MFN2 [tissue]
Peptide AtlasO95140
HPRD08495
IPIIPI00642329   IPI00902732   IPI01021334   IPI00791338   
Protein Interaction databases
DIP (DOE-UCLA)O95140
IntAct (EBI)O95140
FunCoupENSG00000116688
BioGRIDMFN2
STRING (EMBL)MFN2
ZODIACMFN2
Ontologies - Pathways
QuickGOO95140
Ontology : AmiGOblastocyst formation  GTPase activity  protein binding  GTP binding  mitochondrion  mitochondrial outer membrane  cytosol  protein targeting to mitochondrion  apoptotic process  response to unfolded protein  mitochondrial membrane organization  cell cycle arrest  blood coagulation  mitochondrial fusion  mitochondrial fusion  mitochondrial fusion  microtubule cytoskeleton  integral component of membrane  macroautophagy  intrinsic component of mitochondrial outer membrane  intrinsic component of mitochondrial outer membrane  ubiquitin protein ligase binding  protein localization to pre-autophagosomal structure  negative regulation of Ras protein signal transduction  camera-type eye morphogenesis  negative regulation of smooth muscle cell proliferation  mitochondrion localization  parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization  
Ontology : EGO-EBIblastocyst formation  GTPase activity  protein binding  GTP binding  mitochondrion  mitochondrial outer membrane  cytosol  protein targeting to mitochondrion  apoptotic process  response to unfolded protein  mitochondrial membrane organization  cell cycle arrest  blood coagulation  mitochondrial fusion  mitochondrial fusion  mitochondrial fusion  microtubule cytoskeleton  integral component of membrane  macroautophagy  intrinsic component of mitochondrial outer membrane  intrinsic component of mitochondrial outer membrane  ubiquitin protein ligase binding  protein localization to pre-autophagosomal structure  negative regulation of Ras protein signal transduction  camera-type eye morphogenesis  negative regulation of smooth muscle cell proliferation  mitochondrion localization  parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization  
NDEx NetworkMFN2
Atlas of Cancer Signalling NetworkMFN2
Wikipedia pathwaysMFN2
Orthology - Evolution
OrthoDB9927
GeneTree (enSembl)ENSG00000116688
Phylogenetic Trees/Animal Genes : TreeFamMFN2
HOVERGENO95140
HOGENOMO95140
Homologs : HomoloGeneMFN2
Homology/Alignments : Family Browser (UCSC)MFN2
Gene fusions - Rearrangements
Fusion : MitelmanMFN2/PLOD1 [1p36.22/1p36.22]  
Fusion: TCGA_MDACCMFN2 1p36.22 PLOD1 1p36.22 OV
Tumor Fusion PortalMFN2
Fusion Cancer (Beijing)ERRFI1 [1p36.23]  -  MFN2 [1p36.22]  [FUSC003752]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMFN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MFN2
dbVarMFN2
ClinVarMFN2
1000_GenomesMFN2 
Exome Variant ServerMFN2
ExAC (Exome Aggregation Consortium)ENSG00000116688
GNOMAD BrowserENSG00000116688
Genetic variants : HAPMAP9927
Genomic Variants (DGV)MFN2 [DGVbeta]
DECIPHERMFN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMFN2 
Mutations
ICGC Data PortalMFN2 
TCGA Data PortalMFN2 
Broad Tumor PortalMFN2
OASIS PortalMFN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMFN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMFN2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MFN2
DgiDB (Drug Gene Interaction Database)MFN2
DoCM (Curated mutations)MFN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MFN2 (select a term)
intoGenMFN2
Cancer3DMFN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601152    608507    609260    617087   
Orphanet878    10855    11979    11981    14520   
DisGeNETMFN2
MedgenMFN2
Genetic Testing Registry MFN2
NextProtO95140 [Medical]
TSGene9927
GENETestsMFN2
Target ValidationMFN2
Huge Navigator MFN2 [HugePedia]
snp3D : Map Gene to Disease9927
BioCentury BCIQMFN2
ClinGenMFN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9927
Chemical/Pharm GKB GenePA134986046
Clinical trialMFN2
Miscellaneous
canSAR (ICR)MFN2 (select the gene name)
Probes
Litterature
PubMed156 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMFN2
EVEXMFN2
GoPubMedMFN2
iHOPMFN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:22:15 CET 2017

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