MIEF2

Protein identityUniProt · HPA

UniProt accession

Q96C03

Gene

MIEF2

Ensembl

ENSG00000177427

Chromosome

17

Canonical length

454 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

454 residues, UniProt reviewed canonical sequence.

>Q96C03|MIEF2
     1  MAEFSQKRGK RRSDEGLGSM VDFLLANARL VLGVGGAAVL GIATLAVKRF IDRATSPRDE
    61  DDTKADSWKE LSLLKATPHL QPRPPPAALS QPVLPLAPSS SAPEGPAETD PEVTPQLSSP
   121  APLCLTLQER LLAFERDRVT IPAAQVALAK QLAGDIALEL QAYFRSKFPE LPFGAFVPGG
   181  PLYDGLQAGA ADHVRLLVPL VLEPGLWSLV PGVDTVARDP RCWAVRRTQL EFCPRGSSPW
   241  DRFLVGGYLS SRVLLELLRK ALAASVNWPA IGSLLGCLIR PSMASEELLL EVQHERLELT
   301  VAVLVAVPGV DADDRLLLAW PLEGLAGNLW LQDLYPVEAA RLRALDDHDA GTRRRLLLLL
   361  CAVCRGCSAL GQLGRGHLTQ VVLRLGEDNV DWTEEALGER FLQALELLIG SLEQASLPCH
   421  FNPSVNLFSS LREEEIDDIG YALYSGLQEP EGLL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MIEF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

24 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MIEF2.

Disease | AllUniProt

Conditions MIEF2 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 49 (COXPD49) MIM:619024

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 128 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation deficiency 49

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.83

gnomAD pLI

0.02

gnomAD missense Z

0.51

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrion organization
• positive regulation of mitochondrial fission
• positive regulation of protein targeting to membrane
• regulation of mitochondrion organization

Cellular components

• mitochondrial outer membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• MAB21L/Cyclic GMP-AMP synthase-like receptor
• Mitochondrial dynamics protein MID49/MID51
• Mab-21-like, HhH/H2TH-like domain
• Mitochondrial dynamics protein MID51-like, C-terminal domain
• Mab-21 protein HhH/H2TH-like domain
• Mitochondrial dynamics protein MID51-like, C-terminal domain

KeywordsUniProt

• Membrane
• Mitochondrion
• Mitochondrion outer membrane
• Phosphoprotein
• Primary mitochondrial disease
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of MIEF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DNM1L
• UBQLN1