MIEF2

mitochondrial elongation factor 2

Basic information

Region (hg38): 17:18260597-18266552

Previous symbols: [ "SMCR7" ]

Links

ENSG00000177427NCBI:125170OMIM:615498HGNC:17920Uniprot:Q96C03AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • combined oxidative phosphorylation deficiency 49 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Combined oxidative phosphorylation deficiency 49ARBiochemicalThe condition has been described as involving muscle weakness and pain, and medical management (eg, with riboflavin and coenzyme Q10) has been described as beneficialBiochemical; Musculoskeletal29361167

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MIEF2 gene.

  • not_specified (105 variants)
  • not_provided (7 variants)
  • Combined_oxidative_phosphorylation_deficiency_49 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIEF2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000139162.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
15
clinvar
15
missense
89
clinvar
4
clinvar
93
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 1 0 89 19 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MIEF2protein_codingprotein_codingENST00000395706 46019
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01600.962124881091248900.0000360
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5132692940.9160.00002012909
Missense in Polyphen7593.850.799151068
Synonymous0.5741301390.9380.000009631070
Loss of Function1.99512.70.3956.29e-7128

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.0001000.0000994
East Asian0.0001100.000109
Finnish0.000.00
European (Non-Finnish)0.00002740.0000265
Middle Eastern0.0001100.000109
South Asian0.00006770.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Mitochondrial outer membrane protein which regulates mitochondrial fission. 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. {ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241, ECO:0000269|PubMed:23921378}.;

Recessive Scores

pRec
0.107

Intolerance Scores

loftool
rvis_EVS
-0.53
rvis_percentile_EVS
20.78

Haploinsufficiency Scores

pHI
0.0960
hipred
N
hipred_score
0.242
ghis
0.528

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mief2
Phenotype

Gene ontology

Biological process
mitochondrion organization;mitochondrial fusion;positive regulation of protein homooligomerization;positive regulation of mitochondrial fission;positive regulation of protein targeting to membrane
Cellular component
mitochondrion;mitochondrial outer membrane;peroxisome;integral component of membrane
Molecular function
protein binding;identical protein binding