Human Gene MFN2 (ENST00000235329.10) from GENCODE V44
Description: Homo sapiens mitofusin 2 (MFN2), transcript variant 1, mRNA. (from RefSeq NM_014874) RefSeq Summary (NM_014874): 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]. Gencode Transcript: ENST00000235329.10 Gencode Gene: ENSG00000116688.18 Transcript (Including UTRs) Position: hg38 chr1:11,980,444-12,013,508 Size: 33,065 Total Exon Count: 19 Strand: + Coding Region Position: hg38 chr1:11,989,169-12,011,565 Size: 22,397 Coding Exon Count: 17
ID:MFN2_HUMAN DESCRIPTION: RecName: Full=Mitofusin-2; EC=3.6.5.-; AltName: Full=Transmembrane GTPase MFN2; FUNCTION: Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation. CATALYTIC ACTIVITY: GTP + H(2)O = GDP + phosphate. SUBUNIT: Forms homomultimers and heteromultimers with MFN1. Oligomerization, which is mediated by the second coiled coil region, may play an essential role in mitochondrion fusion. Interacts with VAT1 (By similarity). SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein. Note=Colocalizes with BAX during apoptosis. TISSUE SPECIFICITY: Ubiquitous; expressed at low level. Highly expressed in heart and kidney. DISEASE: Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]. CMT2A2 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. DISEASE: Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]; also referred to as autosomal dominant hereditary motor and sensory neuropathy VI (HMSN6). CMT6 is an autosomal dominant form of axonal CMT associated with optic atrophy. SIMILARITY: Belongs to the mitofusin family. SEQUENCE CAUTION: Sequence=BAA34389.2; Type=Erroneous initiation; Sequence=CAB70866.2; Type=Frameshift; Positions=581; WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MFN2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00350 - Dynamin family PF04799 - fzo-like conserved region
ModBase Predicted Comparative 3D Structure on O95140
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
GeneReviews article(s) related to gene MFN2: cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview) cmt2a (MFN2 Hereditary Motor and Sensory Neuropathy)
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