2. Gene
  3. MIEF2 - mitochondrial elongation factor 2 Gene

MIEF2 - mitochondrial elongation factor 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MID49; SMCR7; COXPD49

Gene ID: 125170 | Gene type: protein coding

About MIEF2

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:18,260,662-18,266,552 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 197 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 4.6), kidney (RPKM 4.0) and 25 other tissues.

Summary

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. [provided by RefSeq, Jun 2011]

MIEF2 Products(3)

mRNA Protein Name
NM_001144900.3 NP_001138372.1 mitochondrial dynamics protein MID49 isoform 3
NM_139162.4 NP_631901.2 mitochondrial dynamics protein MID49 isoform 1
NM_148886.2 NP_683684.2 mitochondrial dynamics protein MID49 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence Reference Source
NOT involved in mitochondrial fusion IMP
IMP: Inferred from mutant phenotype
23921378 GOA
involved in mitochondrion organization IDA
IDA: Inferred from direct assay
21508961 GOA
involved in positive regulation of mitochondrial fission IDA
IDA: Inferred from direct assay
23283981 GOA
NOT involved in positive regulation of protein targeting to membrane IDA
IDA: Inferred from direct assay
23921378 GOA
involved in positive regulation of protein targeting to membrane IDA
IDA: Inferred from direct assay
23283981 GOA
involved in regulation of mitochondrion organization IMP
IMP: Inferred from mutant phenotype
29361167 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
21508961 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
23921378 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MIEF2 Protein Structure

Mab-21

Mab-21: Mab-21 protein (327 - 443)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 454 a.a.
Protein Preferred Names Protein Names

mitochondrial dynamics protein MID49

Smith-Magenis syndrome chromosomal region candidate gene 7 protein

MIEF2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
MIEF2 Q96C03 AGTRAP Homo sapiens Q6RW13
Y2H Array
25416956
Intra
MIEF2 Q96C03 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
25416956
Intra
MIEF2 Q96C03 UBQLN1 Homo sapiens Q9UMX0
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 49

COXPD49
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p
Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1

Encephalopathy, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1

EMPF1

Empf

Dnm1l-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect

Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission

Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1

Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission
Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1
3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy
Optic Nerve Disease

Optic Neuropathy

Disorder Of The Second Nerve

Optic Nerve Disorder

Optic Nerve

Abnormality Of The Optic Nerve

Optic Nerve Disorders

Neuropathy, Optic

Disorder Of The Optic Nerve
Cranial Nerve Disease

Cranial Nerve Disorder

Disorder Of Cranial Nerve

Cranial Nerve Diseases
Myopathy

Muscular Diseases

Myopathies
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08440 MIEF2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus MIEF2 VGNC VGNC:55849
Canis familiaris MIEF2 VGNC VGNC:43227
Felis catus MIEF2 VGNC VGNC:99279
Rattus norvegicus MIEF2 RGD RGD:1560728
Mus musculus MIEF2 MGD MGI:2144199
Macaca mulatta MIEF2 VGNC VGNC:74789