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MFN2 (mitofusin 2)

Identity

Other namesCMT2A
CMT2A2
CPRP1
HSG
MARF
HGNC (Hugo) MFN2
LocusID (NCBI) 9927
Location 1p36.22
Location_base_pair Starts at 12040238 and ends at 12073572 bp from pter ( according to hg19-Feb_2009)
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
Cards
Entrez_Gene (NCBI)MFN2  9927  mitofusin 2
GeneCards (Weizmann)MFN2
Ensembl hg19 (Hinxton)ENSG00000116688 [Gene_View]  chr1:12040238-12073572 [Contig_View]  MFN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000116688 [Gene_View]  chr1:12040238-12073572 [Contig_View]  MFN2 [Vega]
ICGC DataPortalENSG00000116688
cBioPortalMFN2
AceView (NCBI)MFN2
Genatlas (Paris)MFN2
WikiGenes9927
SOURCE (Princeton)MFN2
Genomic and cartography
GoldenPath hg19 (UCSC)MFN2  -     chr1:12040238-12073572 +  1p36.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MFN2  -     1p36.22   [Description]    (hg38-Dec_2013)
EnsemblMFN2 - 1p36.22 [CytoView hg19]  MFN2 - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBIMFN2 [Mapview hg19]  MFN2 [Mapview hg38]
OMIM601152   608507   609260   
Gene and transcription
Genbank (Entrez)AF036536 AI857365 AK001189 AK021947 AK022453
RefSeq transcript (Entrez)NM_001127660 NM_014874
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_007945 NT_032977 NW_001838534 NW_004929289
Consensus coding sequences : CCDS (NCBI)MFN2
Cluster EST : UnigeneHs.376681 [ NCBI ]
CGAP (NCI)Hs.376681
Alternative Splicing : Fast-db (Paris)GSHG0000130
Alternative Splicing GalleryENSG00000116688
Gene ExpressionMFN2 [ NCBI-GEO ]     MFN2 [ SEEK ]   MFN2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95140 (Uniprot)
NextProtO95140  [Medical]
With graphics : InterProO95140
Splice isoforms : SwissVarO95140 (Swissvar)
Catalytic activity : Enzyme3.6.5.- [ Enzyme-Expasy ]   3.6.5.-3.6.5.- [ IntEnz-EBI ]   3.6.5.- [ BRENDA ]   3.6.5.- [ KEGG ]   
Domains : Interpro (EBI)Dynamin_GTPase    Fzo/mitofusin_HR2    Mitofusin-2    Mitofusin_fam    P-loop_NTPase   
Related proteins : CluSTrO95140
Domain families : Pfam (Sanger)Dynamin_N (PF00350)    Fzo_mitofusin (PF04799)   
Domain families : Pfam (NCBI)pfam00350    pfam04799   
DMDM Disease mutations9927
Blocks (Seattle)O95140
Human Protein AtlasENSG00000116688
Peptide AtlasO95140
HPRD08495
IPIIPI00642329   IPI00902732   IPI01021334   IPI00791338   
Protein Interaction databases
DIP (DOE-UCLA)O95140
IntAct (EBI)O95140
FunCoupENSG00000116688
BioGRIDMFN2
IntegromeDBMFN2
STRING (EMBL)MFN2
Ontologies - Pathways
QuickGOO95140
Ontology : AmiGOblastocyst formation  GTPase activity  protein binding  GTP binding  mitochondrion  mitochondrial outer membrane  cytosol  GTP catabolic process  protein targeting to mitochondrion  mitochondrial membrane organization  cell cycle arrest  blood coagulation  mitochondrial fusion  mitochondrial fusion  mitochondrial fusion  cell death  microtubule cytoskeleton  integral component of membrane  intrinsic component of mitochondrial outer membrane  ubiquitin protein ligase binding  negative regulation of Ras protein signal transduction  camera-type eye morphogenesis  negative regulation of smooth muscle cell proliferation  mitochondrion localization  
Ontology : EGO-EBIblastocyst formation  GTPase activity  protein binding  GTP binding  mitochondrion  mitochondrial outer membrane  cytosol  GTP catabolic process  protein targeting to mitochondrion  mitochondrial membrane organization  cell cycle arrest  blood coagulation  mitochondrial fusion  mitochondrial fusion  mitochondrial fusion  cell death  microtubule cytoskeleton  integral component of membrane  intrinsic component of mitochondrial outer membrane  ubiquitin protein ligase binding  negative regulation of Ras protein signal transduction  camera-type eye morphogenesis  negative regulation of smooth muscle cell proliferation  mitochondrion localization  
Protein Interaction DatabaseMFN2
DoCM (Curated mutations)MFN2
Wikipedia pathwaysMFN2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMFN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MFN2
dbVarMFN2
ClinVarMFN2
1000_GenomesMFN2 
Exome Variant ServerMFN2
SNP (GeneSNP Utah)MFN2
SNP : HGBaseMFN2
Genetic variants : HAPMAPMFN2
Genomic VariantsMFN2  MFN2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000116688 
Somatic Mutations in Cancer : COSMICMFN2 
CONAN: Copy Number AnalysisMFN2 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:12040238-12073572
Mutations and Diseases : HGMDMFN2
OMIM601152    608507    609260   
MedgenMFN2
NextProtO95140 [Medical]
GENETestsMFN2
Disease Genetic AssociationMFN2
Huge Navigator MFN2 [HugePedia]  MFN2 [HugeCancerGEM]
snp3D : Map Gene to Disease9927
DGIdb (Drug Gene Interaction db)MFN2
General knowledge
Homologs : HomoloGeneMFN2
Homology/Alignments : Family Browser (UCSC)MFN2
Phylogenetic Trees/Animal Genes : TreeFamMFN2
Chemical/Protein Interactions : CTD9927
Chemical/Pharm GKB GenePA134986046
Clinical trialMFN2
Cancer Resource (Charite)ENSG00000116688
Other databases
Probes
Litterature
PubMed124 Pubmed reference(s) in Entrez
CoreMineMFN2
GoPubMedMFN2
iHOPMFN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 23:39:21 CET 2014

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