MIEF2 Gene (Protein Coding)

Mitochondrial Elongation Factor 2

GC17P018262
GIFtS:
34
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 dif... See more...

Aliases for MIEF2 Gene

Aliases for MIEF2 Gene

  • Mitochondrial Elongation Factor 2 2 3 4 5
  • Smith-Magenis Syndrome Chromosomal Region Candidate Gene 7 Protein 3 4
  • Smith-Magenis Syndrome Chromosome Region, Candidate 7 2 3
  • Mitochondrial Dynamics Protein Of 49 KDa 3 4
  • Mitochondrial Dynamics Protein MID49 3 4
  • MID49 3 4
  • SMCR7 3 4
  • Mitochondrial Dynamic Protein Of 49 KDa 3
  • Mitochondrial Dynamic Protein MID49 3
  • MGC23130 2
  • COXPD49 3
  • MIEF2 5
  • MiD49 2

External Ids for MIEF2 Gene

Previous HGNC Symbols for MIEF2 Gene

  • SMCR7

Previous GeneCards Identifiers for MIEF2 Gene

  • GC17P018164

Summaries for MIEF2 Gene

Entrez Gene Summary for MIEF2 Gene

  • 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]

GeneCards Summary for MIEF2 Gene

MIEF2 (Mitochondrial Elongation Factor 2) is a Protein Coding gene. Diseases associated with MIEF2 include Combined Oxidative Phosphorylation Deficiency 49 and Smith-Magenis Syndrome. An important paralog of this gene is MIEF1.

UniProtKB/Swiss-Prot Summary for MIEF2 Gene

  • Mitochondrial outer membrane protein which regulates mitochondrial organization (PubMed:29361167). 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.

Additional gene information for MIEF2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MIEF2 Gene

Genomics for MIEF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MIEF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MIEF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MIEF2

Genomic Locations for MIEF2 Gene

Latest Assembly
chr17:18,260,597-18,266,552
(GRCh38/hg38)
Size:
5,956 bases
Orientation:
Plus strand

Previous Assembly
chr17:18,163,976-18,169,866
(GRCh37/hg19 by Entrez Gene)
Size:
5,891 bases
Orientation:
Plus strand

chr17:18,163,848-18,169,866
(GRCh37/hg19 by Ensembl)
Size:
6,019 bases
Orientation:
Plus strand

Genomic View for MIEF2 Gene

Genes around MIEF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIEF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIEF2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MIEF2 Gene

Proteins for MIEF2 Gene

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  • Protein details for MIEF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96C03-MID49_HUMAN
    Recommended name:
    Mitochondrial dynamics protein MID49
    Protein Accession:
    Q96C03
    Secondary Accessions:
    • J3KPT3
    • Q6ZRD4
    • Q96N07

    Protein attributes for MIEF2 Gene

    Size:
    454 amino acids
    Molecular mass:
    49269 Da
    Quaternary structure:
    • Interacts with DNM1L.
    Miscellaneous:
    • Does not bind ADP or other nucleotides, in contrast to MIEF1.

    Three dimensional structures from OCA and Proteopedia for MIEF2 Gene

    Alternative splice isoforms for MIEF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIEF2 Gene

Protein Expression for MIEF2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MIEF2 Gene

  • Ubiquitination at Lys7 and Lys69
  • Modification sites at PhosphoSitePlus

Other Protein References for MIEF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MIEF2 Gene

Domains & Families for MIEF2 Gene

Gene Families for MIEF2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MIEF2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MIEF2 Gene

GenScript: Design optimal peptide antigens:
  • Smith-Magenis syndrome chromosomal region candidate gene 7 protein (SMCR7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96C03

UniProtKB/Swiss-Prot:

MID49_HUMAN :
  • Belongs to the MID49/MID51 family.
Family:
  • Belongs to the MID49/MID51 family.
genes like me logo Genes that share domains with MIEF2: view

Function for MIEF2 Gene

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  6. Cell Lines for research

Molecular function for MIEF2 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial outer membrane protein which regulates mitochondrial organization (PubMed:29361167). 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.

Phenotypes From GWAS Catalog for MIEF2 Gene

Gene Ontology (GO) - Molecular Function for MIEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with MIEF2: view
genes like me logo Genes that share phenotypes with MIEF2: view

Human Phenotype Ontology for MIEF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIEF2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MIEF2 Gene

Localization for MIEF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIEF2 Gene

Mitochondrion outer membrane. Single-pass membrane protein. Note=Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIEF2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
extracellular 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MIEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 23921378
GO:0005741 mitochondrial outer membrane IBA,IDA 21508961
GO:0005777 NOT peroxisome TAS 23921378
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MIEF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MIEF2 Gene

Pathways & Interactions for MIEF2 Gene

PathCards logo

SuperPathways for MIEF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MIEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003374 dynamin family protein polymerization involved in mitochondrial fission IDA 23530241
GO:0007005 mitochondrion organization IDA 21508961
GO:0008053 NOT mitochondrial fusion IMP 23921378
GO:0010821 regulation of mitochondrion organization IMP 29361167
GO:0090141 positive regulation of mitochondrial fission IBA,TAS 23921378
genes like me logo Genes that share ontologies with MIEF2: view

No data available for Pathways by source and SIGNOR curated interactions for MIEF2 Gene

Drugs & Compounds for MIEF2 Gene

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(1) Drugs for MIEF2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
duloxetine Approved Pharma 0
genes like me logo Genes that share compounds with MIEF2: view

Transcripts for MIEF2 Gene

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mRNA/cDNA for MIEF2 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIEF2

Alternative Splicing Database (ASD) splice patterns (SP) for MIEF2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d
SP1: - - - -
SP2: - -
SP3: - - - - -
SP4: - - -
SP5: - - - -
SP6: - - -
SP7: -
SP8: - -
SP9: -

Relevant External Links for MIEF2 Gene

GeneLoc Exon Structure for
MIEF2

Expression for MIEF2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MIEF2 Gene

mRNA expression in normal human tissues for MIEF2 Gene
mRNA expression by GTEx for MIEF2 GenemRNA expression by BioGPS for MIEF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MIEF2 Gene

This gene is overexpressed in Heart (54.0) and Saliva (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MIEF2 Gene



Protein tissue co-expression partners for MIEF2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MIEF2

mRNA Expression by UniProt/SwissProt for MIEF2 Gene:

Q96C03-MID49_HUMAN
Tissue specificity: Expressed in all tissues tested with highest expression in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for MIEF2 Gene

  • Skin(4.3)
  • Nervous system(3.7)
  • Muscle(2.4)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with MIEF2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MIEF2 Gene

Orthologs for MIEF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MIEF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SMCR7 30
  • 98.54 (n)
MIEF2 31
  • 97 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SMCR7 30
  • 83.77 (n)
MIEF2 31
  • 78 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mief2 30 17 31
  • 80.4 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MIEF2 31
  • 80 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mief2 30
  • 79.66 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MIEF2 31
  • 59 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MIEF2 31
  • 55 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SMCR7 30
  • 61.36 (n)
MIEF2 31
  • 53 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MIEF2 31
  • 44 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mief2 30
  • 53.36 (n)
Zebrafish
(Danio rerio)
 Actinopterygii mief2 31
  • 41 (a)
 OneToOne
Species where no ortholog for MIEF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MIEF2 Gene

ENSEMBL:
Gene Tree for MIEF2 (if available)
TreeFam:
Gene Tree for MIEF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MIEF2: view image

Paralogs for MIEF2 Gene

Paralogs for MIEF2 Gene

(3) SIMAP similar genes for MIEF2 Gene using alignment to 5 proteins:

  • MID49_HUMAN
  • A8MT25_HUMAN
  • J3KTJ4_HUMAN
  • J3QR30_HUMAN
  • K7EKV6_HUMAN
genes like me logo Genes that share paralogs with MIEF2: view

Variants for MIEF2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MIEF2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
978475 Pathogenic: Combined oxidative phosphorylation deficiency 49 18,263,179(+) C/T
NM_139162.4(MIEF2):c.241C>T (p.Gln81Ter) 		NONSENSE
rs12603700 - p.Gly324Glu
rs3751981 - p.Arg354Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MIEF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MIEF2 Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER inversion 15895083
nsv499114 OTHER inversion 21111241
nsv9503 CNV gain 18304495

Variation tolerance for MIEF2 Gene

Residual Variation Intolerance Score: 85.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.96; 79.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MIEF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIEF2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIEF2 Gene

Disorders for MIEF2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MIEF2 Gene - From: OMI, CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MIEF2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MID49_HUMAN
  • Note=A homozygous stop-gain variant in MIEF2 has been found in a patient with autosomal recessive myopathy. Clinical and biochemical features include progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated creatine kinase levels, and deficiency of multiple respiratory chain enzymes. {ECO:0000269 PubMed:29361167}.

Additional Disease Information for MIEF2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MIEF2: view

No data available for Genatlas for MIEF2 Gene

Publications for MIEF2 Gene

  1. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. (PMID: 29361167) Bartsakoulia M … Horvath R (Human molecular genetics 2018) 3 4 74
  2. MiD49 and MiD51, new components of the mitochondrial fission machinery. (PMID: 21508961) Palmer CS … Ryan MT (EMBO reports 2011) 2 3 4
  3. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PMID: 11997338) Bi W … Lupski JR (Genome research 2002) 2 3 4
  4. Structural basis of mitochondrial receptor binding and constriction by DRP1. (PMID: 29899447) Kalia R … Frost A (Nature 2018) 3 4
  5. Adaptor proteins MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission. (PMID: 23921378) Palmer CS … Ryan MT (The Journal of biological chemistry 2013) 3 4

ExternalLinks

View latest publications for MIEF2 gene in Mastermind

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Sources for MIEF2 Gene