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

Gene ID: 125170, updated on 2-Mar-2021

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
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
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
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Genomic context

See MIEF2 in Genome Data Viewer
Location:
17p11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (18260662..18266552)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18163976..18169866)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene alkB homolog 5, RNA demethylase Neighboring gene LLGL scribble cell polarity complex component 1 Neighboring gene FLII actin remodeling protein Neighboring gene DNA topoisomerase III alpha Neighboring gene ribosomal protein L21 pseudogene 121 Neighboring gene ribosomal protein L7a pseudogene 65

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC23130

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
NOT peroxisome TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
mitochondrial dynamics protein MID49
Names
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)

  1. NM_001144900.3NP_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
  2. NM_139162.4NP_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
    Q96C03
    Related
    ENSP00000323591.4, ENST00000323019.9
    Conserved Domains (2) summary
    pfam03281
    Location:391439
    Mab-21; Mab-21 protein
    cl25363
    Location:31219
    VirB10_like; VirB10 and similar proteins form part of core complex in Type IV secretion system (T4SS)
  3. NM_148886.2NP_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
    pfam03281
    Location:402450
    Mab-21; Mab-21 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    18260662..18266552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024190.1XP_016879679.1  mitochondrial dynamics protein MID49 isoform X1

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_017363819.1 Reference GRCh38.p13 PATCHES

    Range
    21036..26926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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