MIEF2 mitochondrial elongation factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MIEF2provided by HGNC
Official Full Name: mitochondrial elongation factor 2provided by HGNC
Primary source: HGNC:HGNC:17920
See related: Ensembl:ENSG00000177427 MIM:615498; AllianceGenome:HGNC:17920
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: D3B; MID49; SMCR7; COXPD49
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]
Expression: Ubiquitous expression in ovary (RPKM 4.6), kidney (RPKM 4.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (18260662..18266552)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (18207344..18213358)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (18163976..18169866)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fatty acyl-coenzyme A activates mitochondrial division through oligomerization of MiD49 and MiD51.
Title: Fatty acyl-coenzyme A activates mitochondrial division through oligomerization of MiD49 and MiD51.
MIEF2 reprograms lipid metabolism to drive progression of ovarian cancer through ROS/AKT/mTOR signaling pathway.
Title: MIEF2 reprograms lipid metabolism to drive progression of ovarian cancer through ROS/AKT/mTOR signaling pathway.
MIEF2 over-expression promotes tumor growth and metastasis through reprogramming of glucose metabolism in ovarian cancer.
Title: MIEF2 over-expression promotes tumor growth and metastasis through reprogramming of glucose metabolism in ovarian cancer.
Mitochondrial fragmentation enables localized signaling required for cell repair.
Title: Mitochondrial fragmentation enables localized signaling required for cell repair.
An epigenetic increase in mitochondrial fission by MiD49 and MiD51 regulates the cell cycle in cancer: Diagnostic and therapeutic implications.
Title: An epigenetic increase in mitochondrial fission by MiD49 and MiD51 regulates the cell cycle in cancer: Diagnostic and therapeutic implications.
In health, MiD49 regulate Drp1-mediated fission, whereas in disease, epigenetic upregulation of MiD49 increases mitotic fission, which drives pathological proliferation and apoptosis resistance
Title: Epigenetic Dysregulation of the Dynamin-Related Protein 1 Binding Partners MiD49 and MiD51 Increases Mitotic Mitochondrial Fission and Promotes Pulmonary Arterial Hypertension: Mechanistic and Therapeutic Implications.
cryo-electron microscopy structure of full-length human DRP1 co-assembled with MID49 and an analysis of structure- and disease-based mutations
Title: Structural basis of mitochondrial receptor binding and constriction by DRP1.
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.
Title: Foxo3a inhibits mitochondrial fission and protects against doxorubicin-induced cardiotoxicity by suppressing MIEF2.
MiD49 and MiD51 recruit inactive forms of Drp1 in mitochondrial fission. [review]
Title: The role of Drp1 adaptor proteins MiD49 and MiD51 in mitochondrial fission: implications for human disease.
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.
Title: Mitochondrial E3 ubiquitin ligase MARCH5 controls mitochondrial fission and cell sensitivity to stress-induced apoptosis through regulation of MiD49 protein.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined oxidative phosphorylation deficiency 49 MedGen: C5436616 OMIM: 619024 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SMCR7__6859 (e-PCR)
- UniSTS:466458

D11S2875 (e-PCR)
- UniSTS:152053

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in mitochondrial fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitochondrial fission	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of mitochondrial fission	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitochondrial fission	TAS Traceable Author Statement more info	PubMed
NOT involved_in positive regulation of protein targeting to membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein targeting to membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
NOT located_in peroxisome	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: mitochondrial dynamics protein MID49

Names: DANGER family member 3B; Smith-Magenis syndrome chromosomal region candidate gene 7 protein; Smith-Magenis syndrome chromosome region, candidate 7; mitochondrial dynamic protein MID49; mitochondrial dynamic protein of 49 kDa; mitochondrial dynamics protein of 49 kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001144900.3 → NP_001138372.1 mitochondrial dynamics protein MID49 isoform 3

See identical proteins and their annotated locations for NP_001138372.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region that causes a translational frameshift, compared to variant 1. The resulting isoform (3) contains a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AC127537, AK128310, BC014973, DB183618

Consensus CDS

CCDS45625.1

UniProtKB/Swiss-Prot

Q96C03

Related

ENSP00000379056.4, ENST00000395704.8
NM_139162.4 → NP_631901.2 mitochondrial dynamics protein MID49 isoform 1

See identical proteins and their annotated locations for NP_631901.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.

Source sequence(s)

AC127537, AK056165, BC014973

Consensus CDS

CCDS11193.1

UniProtKB/Swiss-Prot

J3KPT3, Q6ZRD4, Q96C03, Q96N07

Related

ENSP00000323591.4, ENST00000323019.9

Conserved Domains (2) summary

pfam03281
Location:391 → 439

Mab-21; Mab-21 protein

cl25363
Location:31 → 219

VirB10_like; VirB10 and similar proteins form part of core complex in Type IV secretion system (T4SS)
NM_148886.2 → NP_683684.2 mitochondrial dynamics protein MID49 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and uses a distinct translational start codon, compared to variant 1. The resulting isoform (2) is longer at the N-terminus, compared to isoform 1.

Source sequence(s)

AC127537, BC014973

Consensus CDS

CCDS45624.1

UniProtKB/Swiss-Prot

Q96C03

Related

ENSP00000379057.2, ENST00000395706.2

Conserved Domains (1) summary

COG2948
Location:42 → 230

VirB10; Type IV secretory pathway, VirB10 components [Intracellular trafficking, secretion, and vesicular transport]