country

Change Language

EN - English
FR - Français
DE - Deutsch
ES - Español
JA - 日本語
KO - 한국어

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

MIEF2 - mitochondrial elongation factor 2 Gene

Also Known as MID49; SMCR7; COXPD49

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 125170

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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	References
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

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 Set	/	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
Others	MIEF2	NCBI