Detailed information for MFN2
Basic information
| Official symbol | MFN2 |
|---|---|
| Official full name | mitofusin 2 |
| Location | 1p36.22 |
| Gene type | protein-coding |
| Synonyms | CMT2A|CMT2A2|CPRP1|HSG|MARF |
| Quick links | Entrez ID:9927; HGNC:16877; MIM:608507; Ensembl:ENSG00000116688; HPRD:08495; Vega:OTTHUMG00000002392 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| GO:0001654 | eye development | 276 | 39 | 3.43 | 11.36 | 3.01e-30 | 2.94e-28 |
| GO:0044707 | single-multicellular organism process | 5612 | 143 | 69.81 | 2.05 | 9.21e-29 | 7.72e-27 |
| GO:0032501 | multicellular organismal process | 5644 | 143 | 70.21 | 2.04 | 1.83e-28 | 1.43e-26 |
| GO:0043010 | camera-type eye development | 237 | 33 | 2.95 | 11.19 | 2.13e-25 | 1.25e-23 |
| GO:0048592 | eye morphogenesis | 126 | 24 | 1.57 | 15.31 | 5.38e-22 | 2.53e-20 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0048646 | anatomical structure formation involved in morphogenesis | 1594 | 62 | 19.83 | 3.13 | 4.32e-17 | 1.64e-15 |
| GO:0009653 | anatomical structure morphogenesis | 2055 | 70 | 25.56 | 2.74 | 1.99e-16 | 7.08e-15 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| GO:0032502 | developmental process | 4572 | 104 | 56.88 | 1.83 | 3.53e-13 | 1.04e-11 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| GO:0043168 | anion binding | 2402 | 40 | 26.72 | 1.50 | 0.0048 | 0.0336 |
| GO:0015630 | microtubule cytoskeleton | 863 | 37 | 9.41 | 3.93 | 5.76e-13 | 8.68e-12 |
| GO:0005856 | cytoskeleton | 1790 | 47 | 19.52 | 2.41 | 7.23e-09 | 6.16e-08 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr1 | 12039237 | 12074572 | 609260 | "Charcot-Marie-Tooth disease, type 2A2" | 3 | 608507 | 1p36.22 |
| chr1 | 12039237 | 12074572 | 601152 | Hereditary motor and sensory neuropathy VI | 3 | 608507 | 1p36.22 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0001186 | pigmentation phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0002873 | normal phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0003631 | nervous system phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0005369 | muscle phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0005376 | homeostasis/metabolism phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0005378 | growth/size phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0005380 | embryogenesis phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0005384 | cellular phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0005385 | cardiovascular system phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0005386 | behavior/neurological phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0005390 | skeleton phenotype |
| chr1 | 12039237 | 12074572 | 9927 | Mfn2 | MGI:2442230 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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