MIEF2
gene geneOn this page
Also known as MGC23130MiD49D3B
Summary
MIEF2 (mitochondrial elongation factor 2, HGNC:17920) is a protein-coding gene on chromosome 17p11.2, encoding Mitochondrial dynamics protein MID49 (Q96C03). Mitochondrial outer membrane protein involved in the regulation of mitochondrial organization.
This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 125170 — RefSeq curated summary.
At a glance
- Gene–disease (curated): mitochondrial disease (Limited, ClinGen) — +1 more curated relationship
- GWAS associations: 1
- Clinical variants (ClinVar): 130 total — 3 pathogenic
- Phenotypes (HPO): 14
- MANE Select transcript:
NM_139162
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17920 |
| Approved symbol | MIEF2 |
| Name | mitochondrial elongation factor 2 |
| Location | 17p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC23130, MiD49, D3B |
| Ensembl gene | ENSG00000177427 |
| Ensembl biotype | protein_coding |
| OMIM | 615498 |
| Entrez | 125170 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 15 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000323019, ENST00000395703, ENST00000395704, ENST00000395706, ENST00000577216, ENST00000578174, ENST00000578621, ENST00000579341, ENST00000583745, ENST00000902907, ENST00000902908, ENST00000902909, ENST00000902910, ENST00000902911, ENST00000935240, ENST00000955407, ENST00000955408
RefSeq mRNA: 3 — MANE Select: NM_139162
NM_001144900, NM_139162, NM_148886
CCDS: CCDS11193, CCDS45624, CCDS45625
Canonical transcript exons
ENST00000323019 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002698263 | 18263710 | 18266552 |
| ENSE00002713318 | 18260662 | 18260737 |
| ENSE00002749672 | 18263086 | 18263248 |
| ENSE00003634008 | 18262714 | 18262867 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 89.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3506 / max 33.9493, expressed in 1684 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159807 | 5.3506 | 1684 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 89.60 | gold quality |
| apex of heart | UBERON:0002098 | 89.06 | gold quality |
| muscle of leg | UBERON:0001383 | 86.98 | gold quality |
| gastrocnemius | UBERON:0001388 | 86.67 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.26 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 86.07 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 85.73 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.61 | gold quality |
| metanephros cortex | UBERON:0010533 | 83.11 | gold quality |
| muscle tissue | UBERON:0002385 | 83.07 | gold quality |
| heart | UBERON:0000948 | 82.90 | gold quality |
| prefrontal cortex | UBERON:0000451 | 81.95 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 81.75 | gold quality |
| cortical plate | UBERON:0005343 | 81.38 | gold quality |
| left adrenal gland | UBERON:0001234 | 81.15 | gold quality |
| right adrenal gland | UBERON:0001233 | 81.10 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 81.05 | gold quality |
| right atrium auricular region | UBERON:0006631 | 80.79 | gold quality |
| esophagus mucosa | UBERON:0002469 | 80.56 | gold quality |
| frontal cortex | UBERON:0001870 | 80.53 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 80.52 | gold quality |
| right uterine tube | UBERON:0001302 | 80.47 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 79.99 | gold quality |
| kidney | UBERON:0002113 | 79.96 | gold quality |
| cortex of kidney | UBERON:0001225 | 79.95 | gold quality |
| pituitary gland | UBERON:0000007 | 79.84 | gold quality |
| minor salivary gland | UBERON:0001830 | 79.84 | gold quality |
| cerebellum | UBERON:0002037 | 79.77 | gold quality |
| adenohypophysis | UBERON:0002196 | 79.76 | gold quality |
| adrenal gland | UBERON:0002369 | 79.75 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.90 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting MIEF2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
| HSA-MIR-6839-3P | 99.39 | 68.86 | 1301 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
Literature-anchored findings (GeneRIF, showing 17)
- Smith-Magenis syndrome is caused by a de novo deletion on chromosome 17. (PMID:15517828)
- MiD49/51 are new mediators of mitochondrial division affecting Drp1 action at mitochondria. (PMID:21508961)
- Mitochondrial outer membrane protein that recruits fission mediator Drp1 to the mitochondrial surface. (PMID:21508961)
- we find that either MiD49 or MiD51 can mediate Drp1 recruitment and mitochondrial fission in the absence of Fis1 and Mff. (PMID:23283981)
- MIEF1 and MIEF2 are differentially expressed in human tissues during development (PMID:23880462)
- MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and suggest that they provide specificity to the division of mitochondria. (PMID:23921378)
- These findings and data showing MARCH5-dependent degradation of MiD49 upon stress support the possibility that MARCH5 regulation of MiD49 is a novel mechanism controlling mitochondrial fission and, consequently, the cellular response to stress. (PMID:26564796)
- The results indicate that Drp1-dependent mitochondrial fission through MiD49/MiD51 regulates cristae remodeling during intrinsic apoptosis. (PMID:26903540)
- MiD49 and MiD51 recruit inactive forms of Drp1 in mitochondrial fission. [review] (PMID:27660309)
- Knockdown of MIEF2 reduces DOX-induced mitochondrial fission and apoptosis in cardiomyocytes and in vivo. Also, knockdown of MIEF2 protects heart from DOX-induced cardiotoxicity. Our study identifies a novel pathway composed of Foxo3a and MIEF2 that mediates DOX cardiotoxicity. (PMID:28137654)
- In health, MiD49 regulate Drp1-mediated fission, whereas in disease, epigenetic upregulation of MiD49 increases mitotic fission, which drives pathological proliferation and apoptosis resistance (PMID:29431643)
- cryo-electron microscopy structure of full-length human DRP1 co-assembled with MID49 and an analysis of structure- and disease-based mutations (PMID:29899447)
- An epigenetic increase in mitochondrial fission by MiD49 and MiD51 regulates the cell cycle in cancer: Diagnostic and therapeutic implications. (PMID:32068312)
- Mitochondrial fragmentation enables localized signaling required for cell repair. (PMID:32236517)
- MIEF2 over-expression promotes tumor growth and metastasis through reprogramming of glucose metabolism in ovarian cancer. (PMID:33317572)
- MIEF2 reprograms lipid metabolism to drive progression of ovarian cancer through ROS/AKT/mTOR signaling pathway. (PMID:33414447)
- Fatty acyl-coenzyme A activates mitochondrial division through oligomerization of MiD49 and MiD51. (PMID:38594588)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mief2 | ENSDARG00000002377 |
| mus_musculus | Mief2 | ENSMUSG00000018599 |
| rattus_norvegicus | Mief2 | ENSRNOG00000028208 |
Paralogs (1): MIEF1 (ENSG00000100335)
Protein
Protein identifiers
Mitochondrial dynamics protein MID49 — Q96C03 (reviewed: Q96C03)
Alternative names: Mitochondrial dynamics protein of 49 kDa, Mitochondrial elongation factor 2, Smith-Magenis syndrome chromosomal region candidate gene 7 protein
All UniProt accessions (5): A8MT25, J3KTJ4, J3QR30, K7EKV6, Q96C03
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial outer membrane protein involved in the regulation of mitochondrial organization. It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity.
Subunit / interactions. Interacts with DNM1L.
Subcellular location. Mitochondrion outer membrane.
Tissue specificity. Expressed in all tissues tested with highest expression in heart and skeletal muscle.
Disease relevance. Combined oxidative phosphorylation deficiency 49 (COXPD49) [MIM:619024] An autosomal recessive, mitochondrial myopathy characterized by progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase, and deficiencies of multiple respiratory chain enzymes. The disease may be caused by variants affecting the gene represented in this entry.
Miscellaneous. Does not bind ADP or other nucleotides, in contrast to MIEF1.
Similarity. Belongs to the MID49/MID51 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96C03-1 | 1 | yes |
| Q96C03-2 | 2 | |
| Q96C03-3 | 3 |
RefSeq proteins (3): NP_001138372, NP_631901, NP_683684 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR024810 | MAB21L/cGLR | Family |
| IPR045909 | MID49/MID51 | Family |
| IPR046906 | Mab-21_HhH/H2TH-like | Domain |
| IPR049097 | MID51-like_C | Domain |
Pfam: PF20266, PF21297
UniProt features (15 total): sequence variant 3, splice variant 3, topological domain 2, chain 1, mutagenesis site 1, sequence conflict 1, transmembrane region 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5WP9 | ELECTRON MICROSCOPY | 4.22 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96C03-F1 | 76.65 | 0.47 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 13
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 235 | unable to associate with dnm1l into filaments forming the tubular structures that wrap around the scission site. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 134 (showing top):
GOBP_POSITIVE_REGULATION_OF_MITOCHONDRIAL_FISSION, GOBP_PROTEIN_TARGETING, MEF2_02, GOBP_REGULATION_OF_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, CACCAGC_MIR138, EFC_Q6, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, MODULE_205, GOBP_ORGANELLE_FISSION, GOBP_MITOCHONDRIAL_FISSION, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOBP_REGULATION_OF_MITOCHONDRIAL_FISSION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE
GO Biological Process (4): mitochondrion organization (GO:0007005), regulation of mitochondrion organization (GO:0010821), positive regulation of mitochondrial fission (GO:0090141), positive regulation of protein targeting to membrane (GO:0090314)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| organelle organization | 1 |
| mitochondrion organization | 1 |
| regulation of organelle organization | 1 |
| mitochondrial fission | 1 |
| positive regulation of organelle organization | 1 |
| positive regulation of developmental process | 1 |
| regulation of mitochondrial fission | 1 |
| protein targeting to membrane | 1 |
| positive regulation of cellular process | 1 |
| regulation of protein targeting to membrane | 1 |
| positive regulation of establishment of protein localization | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
630 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MIEF2 | DNM1L | O00429 | 997 |
| MIEF2 | DENR | O43583 | 988 |
| MIEF2 | MFF | Q9GZY8 | 981 |
| MIEF2 | FIS1 | Q9Y3D6 | 924 |
| MIEF2 | GFM2 | Q969S9 | 890 |
| MIEF2 | GFM1 | Q96RP9 | 810 |
| MIEF2 | MFN1 | Q8IWA4 | 810 |
| MIEF2 | MFN2 | O95140 | 795 |
| MIEF2 | MRRF | Q96E11 | 710 |
| MIEF2 | OPA1 | O60313 | 685 |
| MIEF2 | MARCHF5 | Q9NX47 | 663 |
| MIEF2 | TSFM | P43897 | 649 |
| MIEF2 | OMA1 | Q96E52 | 643 |
| MIEF2 | DNM1 | Q05193 | 643 |
| MIEF2 | TUFM | P49411 | 637 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DNM1L | MIEF2 | psi-mi:“MI:0915”(physical association) | 0.700 |
| DNM1L | MIEF2 | psi-mi:“MI:0914”(association) | 0.700 |
| MIEF2 | DNM1L | psi-mi:“MI:0403”(colocalization) | 0.700 |
| MIEF2 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBQLN1 | MIEF2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RABAC1 | MIEF2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| AGTRAP | MIEF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBQLN1 | MIEF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MIEF2 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.560 |
| NPTN | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| SLC27A1 | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| MIEF2 | TOMM20 | psi-mi:“MI:0403”(colocalization) | 0.270 |
| MIEF2 | UBQLN4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (41): MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid), MIEF2 (Two-hybrid)
ESM2 similar proteins: A0JM23, A2ASA8, A2BID5, A4IG61, A7MB64, A8E4S7, B1WC10, B5DFG1, O00562, O00750, O08721, O08722, O46102, O76024, O95248, P0CI65, Q08AI8, Q14689, Q1LXZ7, Q3TNL8, Q567X9, Q5FVQ8, Q5NCS9, Q5RA76, Q5RBN0, Q5XIS8, Q66H52, Q6AZT7, Q6GNM3, Q6GPH6, Q6GQ81, Q6ZN44, Q6ZPE2, Q7TNH6, Q7Z494, Q8BGV8, Q8BWT5, Q8CEZ4, Q8CI17, Q8IWB1
Diamond homologs: A4IG61, Q5NCS9, Q5RA76, Q5RBN0, Q5XIS8, Q6GQ81, Q8BGV8, Q96C03, Q9NQG6, A7SFB5, A0A2B4RP11, A0A2B4RNI3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
130 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 103 |
| Likely benign | 23 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1675695 | GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1 | Pathogenic |
| 638113 | GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1 | Pathogenic |
| 978475 | NM_139162.4(MIEF2):c.241C>T (p.Gln81Ter) | Pathogenic |
SpliceAI
965 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:18260733:CGCAG:C | donor_loss | 1.0000 |
| 17:18260734:GCAGG:G | donor_loss | 1.0000 |
| 17:18260735:CAG:C | donor_loss | 1.0000 |
| 17:18260736:AGGTA:A | donor_loss | 1.0000 |
| 17:18260737:GGT:G | donor_loss | 1.0000 |
| 17:18260738:GTACA:G | donor_loss | 1.0000 |
| 17:18260739:T:A | donor_loss | 1.0000 |
| 17:18262711:CA:C | acceptor_loss | 1.0000 |
| 17:18262712:A:AG | acceptor_gain | 1.0000 |
| 17:18262712:A:G | acceptor_loss | 1.0000 |
| 17:18262713:G:GA | acceptor_gain | 1.0000 |
| 17:18262713:GGC:G | acceptor_gain | 1.0000 |
| 17:18262713:GGCA:G | acceptor_gain | 1.0000 |
| 17:18262864:GCGG:G | donor_gain | 1.0000 |
| 17:18262866:GG:G | donor_gain | 1.0000 |
| 17:18262866:GGGT:G | donor_loss | 1.0000 |
| 17:18262867:GG:G | donor_gain | 1.0000 |
| 17:18262867:GGTA:G | donor_loss | 1.0000 |
| 17:18262868:G:GG | donor_gain | 1.0000 |
| 17:18262869:T:A | donor_loss | 1.0000 |
| 17:18263084:A:AG | acceptor_gain | 1.0000 |
| 17:18263085:G:GG | acceptor_gain | 1.0000 |
| 17:18263085:GT:G | acceptor_gain | 1.0000 |
| 17:18263085:GTT:G | acceptor_gain | 1.0000 |
| 17:18263085:GTTC:G | acceptor_gain | 1.0000 |
| 17:18263085:GTTCA:G | acceptor_gain | 1.0000 |
| 17:18263708:A:AG | acceptor_gain | 1.0000 |
| 17:18263708:AGAAG:A | acceptor_gain | 1.0000 |
| 17:18263709:G:GG | acceptor_gain | 1.0000 |
| 17:18263709:GAA:G | acceptor_gain | 1.0000 |
AlphaMissense
2878 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:18262848:C:A | A43D | 0.992 |
| 17:18264018:T:A | W207R | 0.989 |
| 17:18264018:T:C | W207R | 0.989 |
| 17:18264117:T:A | W240R | 0.989 |
| 17:18264117:T:C | W240R | 0.989 |
| 17:18262833:C:A | A38D | 0.988 |
| 17:18264387:T:A | W330R | 0.986 |
| 17:18264387:T:C | W330R | 0.986 |
| 17:18264201:T:A | W268R | 0.983 |
| 17:18264201:T:C | W268R | 0.983 |
| 17:18264080:G:C | R227S | 0.980 |
| 17:18264080:G:T | R227S | 0.980 |
| 17:18264203:G:C | W268C | 0.979 |
| 17:18264203:G:T | W268C | 0.979 |
| 17:18262864:G:C | K48N | 0.978 |
| 17:18262864:G:T | K48N | 0.978 |
| 17:18264111:A:C | S238R | 0.978 |
| 17:18264113:C:A | S238R | 0.978 |
| 17:18264113:C:G | S238R | 0.978 |
| 17:18264079:G:C | R227T | 0.976 |
| 17:18264020:G:C | W207C | 0.972 |
| 17:18264020:G:T | W207C | 0.972 |
| 17:18264120:G:C | D241H | 0.970 |
| 17:18262830:C:A | A37D | 0.968 |
| 17:18262857:C:A | A46D | 0.968 |
| 17:18264121:A:T | D241V | 0.965 |
| 17:18264079:G:T | R227M | 0.964 |
| 17:18262800:A:T | N27I | 0.963 |
| 17:18264389:G:C | W330C | 0.962 |
| 17:18264389:G:T | W330C | 0.962 |
dbSNP variants (sampled 300 via entrez): RS1000870724 (17:18259207 G>A), RS1001554029 (17:18263553 G>A), RS1001668062 (17:18262339 T>G), RS1001989308 (17:18266634 C>T), RS1001998606 (17:18261012 G>C), RS1002490480 (17:18263315 C>A,T), RS1002614501 (17:18259290 T>C), RS1002666807 (17:18259591 C>A), RS1003616652 (17:18260577 G>A,T), RS1003672872 (17:18260094 G>A), RS1003808870 (17:18260327 A>G), RS1004433611 (17:18262551 G>A), RS1004655041 (17:18260022 G>A), RS1005025392 (17:18264838 A>G), RS1005362433 (17:18263799 T>A,C,G)
Disease associations
OMIM: gene MIM:615498 | disease phenotypes: MIM:619024
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| combined oxidative phosphorylation deficiency 49 | Limited | Unknown |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial disease | Limited | AR |
Mondo (1): combined oxidative phosphorylation deficiency 49 (MONDO:0033569)
Orphanet (0):
HPO phenotypes
14 total (14 of 14 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001288 | Gait disturbance |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003323 | Progressive muscle weakness |
| HP:0003326 | Myalgia |
| HP:0003546 | Exercise intolerance |
| HP:0003551 | Difficulty climbing stairs |
| HP:0003621 | Juvenile onset |
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers |
| HP:0008314 | Decreased activity of mitochondrial complex II |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0011924 | Decreased activity of mitochondrial complex III |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008497_5 | Change in neurofilament light levels | 6.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
3 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs12603700 | Efficacy | 3 | duloxetine | Major Depressive Disorder |
| rs3889402 | Efficacy | 3 | duloxetine | Major Depressive Disorder |
| rs56355515 | Efficacy | 3 | duloxetine | Major Depressive Disorder |
PharmGKB variants
4 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs12603700 | MIEF2 | 3 | 0.00 | 1 | duloxetine |
| rs3889402 | MIEF2 | 3 | 0.00 | 1 | duloxetine |
| rs56355515 | MIEF2 | 3 | 0.00 | 1 | duloxetine |
| rs58042962 | MIEF2 | 3 | 0.00 | 1 | duloxetine |
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Leflunomide | decreases expression | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| urushiol | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Deferoxamine | increases expression, affects cotreatment, decreases reaction | 1 |
| Diazinon | increases methylation | 1 |
| Glucose | affects cotreatment, increases expression, decreases reaction | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Melatonin | affects cotreatment, decreases reaction, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | affects expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_F1PW | HyCyte HeLa KO-hMIEF2 | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: combined oxidative phosphorylation deficiency 49, mitochondrial disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): combined oxidative phosphorylation deficiency 49