Homo sapiens Gene: MFN2
Summary
InnateDB Gene IDBG-89999.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MFN2
Gene Name mitofusin 2
Synonyms CMT2A; CMT2A2; CPRP1; HSG; MARF;
Species Homo sapiens
Ensembl Gene ENSG00000116688
Encoded Proteins
mitofusin 2
mitofusin 2
mitofusin 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
MFN2 deletion causes inability of the cell to undergo mitochondrial fusion, and therefore exhibit impaired induction of interferons and pro-inflammatory cytokines in response to viral infection - which results in increased viral replication.
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Mfn2 deletion causes inability of the cell to undergo mitochondrial fusion, and therefore exhibit impaired induction of interferons and proinflammatory cytokines in response to viral infection - which results in increased viral replication.
[Mus musculus] Mitochondrial membrane potential is required for the association of Nlrp3 and Mfn2. Mfns2 is required for the activation of Nlrp3 inflammasomes.
Entrez Gene
Summary This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:11980181-12013514
Strand Forward strand
Band p36.22
Transcripts
ENST00000235329 ENSP00000235329
ENST00000444836 ENSP00000416338
ENST00000412236 ENSP00000412023
ENST00000490079
ENST00000484391
ENST00000497302
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0031625 ubiquitin protein ligase binding
Biological Process
GO:0001825 blastocyst formation
GO:0006184 GTP catabolic process
GO:0006626 protein targeting to mitochondrion
GO:0007006 mitochondrial membrane organization
GO:0007596 blood coagulation
GO:0008053 mitochondrial fusion
GO:0008219 cell death
GO:0045087 innate immune response (InnateDB)
GO:0046580 negative regulation of Ras protein signal transduction
GO:0048593 camera-type eye morphogenesis
GO:0048662 negative regulation of smooth muscle cell proliferation
GO:0051646 mitochondrion localization
Cellular Component
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005829 cytosol
GO:0015630 microtubule cytoskeleton
GO:0016021 integral component of membrane
GO:0031306 intrinsic to mitochondrial outer membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Factors involved in megakaryocyte development and platelet production pathway
Hemostasis pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O95140
TrEMBL Q5JXC5
UniProt Splice Variant
Entrez Gene 9927
UniGene Hs.376681 Hs.731483
RefSeq NM_001127660 XM_005263543 XM_005263548 NM_014874 XM_005263545 XM_005263547
HUGO HGNC:16877
OMIM 608507
CCDS CCDS30587
HPRD 08495
IMGT
EMBL AF036536 AK289828 AL096840 AL137666 AY028429 BC017061 CH471130 D86987
GenPept AAD02058 AAH17061 AAK18728 BAA34389 BAF82517 CAB70866 CAI19087 CAI19088 EAW71726
RNA Seq Atlas 9927