MIEF2 Gene (Protein Coding)

Mitochondrial Elongation Factor 2

GC17P018262
GIFtS:
33
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
  • SMCR7 3 4
  • MID49 3 4
  • Mitochondrial Dynamic Protein Of 49 KDa 3
  • Mitochondrial Dynamic Protein MID49 3

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 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 for MIEF2 Gene

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 UCSC Golden Path with GeneCards custom track

Genomic Locations for MIEF2 Gene

Genomic Locations for MIEF2 Gene
chr17:18,260,534-18,266,552
(GRCh38/hg38)
Size:
6,019 bases
Orientation:
Plus strand
chr17:18,163,848-18,169,866
(GRCh37/hg19)
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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  2. CRISPR
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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

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
peroxisome 2
plasma membrane 1
cytosol 1
extracellular 0
nucleus 0

Gene Ontology (GO) - Cellular Components for MIEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 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:0007005 mitochondrion organization IDA 21508961
GO:0008053 NOT mitochondrial fusion IMP 23921378
GO:0010821 regulation of mitochondrion organization IMP 29361167
GO:0032464 positive regulation of protein homooligomerization IDA 23530241
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

Products:

  1. Drug

(1) Drugs for MIEF2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
duloxetine Approved Pharma Antagonist 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) Additional mRNA sequences :
(56) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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
ECgene alternative splicing isoforms for
MIEF2

Expression for MIEF2 Gene

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

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

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

NURSA nuclear receptor signaling pathways regulating expression of MIEF2 Gene:

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(4.1)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with MIEF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 32
  • 98.54 (n)
MIEF2 33
  • 97 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia SMCR7 32
  • 83.77 (n)
MIEF2 33
  • 78 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mief2 17 33 32
  • 80.4 (n)
cow
(Bos Taurus)
 Mammalia MIEF2 33
  • 80 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Mief2 32
  • 79.66 (n)
oppossum
(Monodelphis domestica)
 Mammalia MIEF2 33
  • 59 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MIEF2 33
  • 55 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SMCR7 32
  • 61.36 (n)
MIEF2 33
  • 53 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MIEF2 33
  • 44 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mief2 32
  • 53.36 (n)
zebrafish
(Danio rerio)
 Actinopterygii mief2 33
  • 41 (a)
 OneToOne
Species where no ortholog for MIEF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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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Sequence variations from dbSNP and Humsavar for MIEF2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000870724 -- 18,259,207(+) G/A upstream_transcript_variant
rs1001554029 -- 18,263,553(+) G/A intron_variant
rs1001668062 -- 18,262,339(+) T/G intron_variant
rs1001989308 -- 18,266,634(+) C/T downstream_transcript_variant
rs1001998606 -- 18,261,012(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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 Assay Products

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

Disorders for MIEF2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MIEF2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • sms
- 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 of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MIEF2: view

No data available for Genatlas for MIEF2 Gene

Publications for MIEF2 Gene

  1. MiD49 and MiD51, new components of the mitochondrial fission machinery. (PMID: 21508961) Palmer CS … Ryan MT (EMBO reports 2011) 2 3 4 56
  2. 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 56
  3. Structural basis of mitochondrial receptor binding and constriction by DRP1. (PMID: 29899447) Kalia R … Frost A (Nature 2018) 3 4 56
  4. 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 56
  5. Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission. (PMID: 23283981) Losón OC … Chan DC (Molecular biology of the cell 2013) 3 4 56

ExternalLinks

View latest publications for MIEF2 gene in Mastermind

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