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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 (Hinxton)ENSG00000116688 [Gene_View]  chr1:12040238-12073572 [Contig_View]  MFN2 [Vega]
ICGC DataPortalENSG00000116688
cBioPortalMFN2
AceView (NCBI)MFN2
Genatlas (Paris)MFN2
WikiGenes9927
SOURCE (Princeton)NM_001127660 NM_014874
Genomic and cartography
GoldenPath (UCSC)MFN2  -  1p36.22   chr1:12040238-12073572 +  1p36.22   [Description]    (hg19-Feb_2009)
EnsemblMFN2 - 1p36.22 [CytoView]
Mapping of homologs : NCBIMFN2 [Mapview]
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 ]
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 [organisation]   Fzo/mitofusin_HR2 [organisation]   Mitofusin-2 [organisation]   Mitofusin_fam [organisation]   P-loop_NTPase [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO95140
HPRD08495
IPIIPI00642329   IPI00902732   IPI01021334   IPI00791338   
Protein Interaction databases
DIP (DOE-UCLA)O95140
IntAct (EBI)O95140
FunCoupENSG00000116688
BioGRIDMFN2
InParanoidO95140
Interologous Interaction database O95140
IntegromeDBMFN2
STRING (EMBL)MFN2
Ontologies - Pathways
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
Wikipedia pathwaysMFN2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MFN2
snp3D : Map Gene to Disease9927
SNP (GeneSNP Utah)MFN2
SNP : HGBaseMFN2
Genetic variants : HAPMAPMFN2
Exome VariantMFN2
1000_GenomesMFN2 
ICGC programENSG00000116688 
Somatic Mutations in Cancer : COSMICMFN2 
CONAN: Copy Number AnalysisMFN2 
Mutations and Diseases : HGMDMFN2
Mutations and Diseases : intOGenMFN2
Genomic VariantsMFN2  MFN2 [DGVbeta]
dbVarMFN2
ClinVarMFN2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM601152    608507    609260   
MedgenMFN2
GENETestsMFN2
Disease Genetic AssociationMFN2
Huge Navigator MFN2 [HugePedia]  MFN2 [HugeCancerGEM]
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
iHOPMFN2
OncoSearchMFN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 19:02:41 CEST 2014

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