| URN | urn:agi-llid:9927 |
|---|---|
| Total Entities | 0 |
| Connectivity | 565 |
| Name | Mfn2 |
| Description | mitofusin 2 |
| Notes | 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] |
| GO Molecular Function | GTPase activity |
|---|---|
| hydrolase activity | |
| GTPase binding | |
| ubiquitin protein ligase binding | |
| nucleotide binding | |
| GTP binding |
| GO Cellular Component | membrane |
|---|---|
| integral component of membrane | |
| intrinsic component of mitochondrial outer membrane | |
| mitochondrial outer membrane | |
| cytosol | |
| mitochondrion | |
| microtubule cytoskeleton |
| GO Biological Process | GTP catabolic process |
|---|---|
| multicellular organismal development | |
| blood coagulation | |
| camera-type eye morphogenesis | |
| blastocyst formation | |
| cell death | |
| mitochondrial membrane organization | |
| mitochondrial fusion | |
| cell cycle arrest | |
| negative regulation of Ras protein signal transduction | |
| negative regulation of cell proliferation | |
| negative regulation of smooth muscle cell proliferation | |
| protein targeting to mitochondrion | |
| mitochondrion localization |
| Pathway | Mitochondrial Fusion and Fission |
|---|---|
| Proteins Involved in Pathogenesis of Myocardial Ischemia | |
| Insulin/CEBPA/CTNNB/FOXA/FOXO Expression Targets | |
| mitochondria dynamics pathway |
| Group | GTP catabolic process |
|---|---|
| GTPase activity | |
| multicellular organismal development | |
| blood coagulation | |
| camera-type eye morphogenesis | |
| blastocyst formation | |
| cell death | |
| mitochondrial membrane organization | |
| mitochondrial fusion | |
| cell cycle arrest | |
| negative regulation of Ras protein signal transduction | |
| negative regulation of cell proliferation | |
| negative regulation of smooth muscle cell proliferation | |
| protein targeting to mitochondrion | |
| hydrolase activity | |
| mitochondrion localization | |
| GTPase binding | |
| ubiquitin protein ligase binding | |
| nucleotide binding | |
| GTP binding | |
| membrane | |
| integral component of membrane | |
| intrinsic component of mitochondrial outer membrane | |
| mitochondrial outer membrane | |
| cytosol | |
| mitochondrion | |
| microtubule cytoskeleton | |
| Secreted proteins |
| LocusLink ID | 9927 |
|---|---|
| 170731 | |
| 64476 |
| Cell Localization | Mitochondrion outer membrane |
|---|
| GO ID | 0005525 |
|---|---|
| 0003924 | |
| 0031625 | |
| 0001825 | |
| 0007596 | |
| 0048593 | |
| 0007050 | |
| 0008219 | |
| 0008053 | |
| 0007006 | |
| 0051646 | |
| 0046580 | |
| 0048662 | |
| 0006626 | |
| 0005829 | |
| 0016021 | |
| 0031306 | |
| 0015630 | |
| 0005741 | |
| 0005739 | |
| 0051020 | |
| 0016787 | |
| 0000166 | |
| 0006184 | |
| 0007275 | |
| 0008285 | |
| 0016020 |
| Alias | HSG |
|---|---|
| MARF | |
| CMT2A | |
| CPRP1 | |
| CMT2A2 | |
| RP5-1077B9.3 | |
| mitofusin-2 | |
| hyperplasia suppressor | |
| transmembrane GTPase MFN2 | |
| mitochondrial assembly regulatory factor | |
| Fzo | |
| D630023P19Rik | |
| RP23-406N5.4 | |
| HSG protein | |
| hypertension related protein 1 | |
| hypertension-related protein 1 | |
| hypertension-related protein | |
| mitochondrial transmembrane GTPase FZO1A | |
| KIAA0214 | |
| OTTMUSP00000011416 | |
| OTTHUMP00000002509 | |
| mitofusin 2 | |
| mitofusin II | |
| OTTMUSP00000011417 | |
| MFN2 | |
| OTTMUSP00000011419 | |
| D630023P19 | |
| OTTMUSP00000011418 | |
| hyperplasia suppressor gene | |
| hypertension related protein I | |
| CPRP I |
| Mouse chromosome position | 4 |
|---|
| OMIM ID | 608507 |
|---|---|
| 609260 | |
| 601152 |
| Rat chromosome position | 5q36 |
|---|
| Hugo ID | 16877 |
|---|
| Human chromosome position | 1p36.22 |
|---|
| Swiss-Prot Accession | O95140 |
|---|---|
| Q3UGM1 | |
| Q80U63 | |
| Q6IRL2 | |
| Q8R500 | |
| A8K1B3 | |
| O95572 | |
| Q5JXC3 | |
| Q5JXC4 | |
| Q9H131 | |
| Q9NSX8 | |
| A2A7Y7 | |
| A8Y5E4 | |
| Q3V3B8 | |
| Q80WP4 | |
| Q80XK3 | |
| Q8BHF0 | |
| Q8BKV5 | |
| Q8R535 | |
| Q923X2 |
| PIR ID | T46498 |
|---|
| Unigene ID | Hs.376681 |
|---|---|
| Mm.154312 | |
| Mm.437499 | |
| Rn.8570 |
| KEGG ID | hsa:9927 |
|---|---|
| mmu:170731 | |
| rno:64476 |
| Swiss-Prot ID | MFN2_HUMAN |
|---|---|
| MFN2_MOUSE |
| EC Number | 3.6.5.- |
|---|
| Ensembl ID | ENSG00000116688 |
|---|---|
| ENSP00000416338 | |
| ENST00000444836 | |
| ENSP00000235329 | |
| ENST00000235329 | |
| ENSMUSG00000029020 | |
| ENSMUSP00000030884 | |
| ENSMUST00000030884 | |
| ENSMUSP00000101340 | |
| ENSMUST00000105715 | |
| ENSMUSP00000101341 | |
| ENSMUST00000105716 | |
| ENSRNOG00000046424 | |
| ENSRNOP00000052539 | |
| ENSRNOT00000055680 |
| Homologene ID | 8915 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 2442230 |
|---|
| RGD ID | 628843 |
|---|
| MedScan ID | 9927 |
|---|