GeneBe

MFF

mitochondrial fission factor

Basic information

Region (hg38): 2:227325151-227357833

Previous symbols: [ "C2orf33" ]

Links

ENSG00000168958 ∙ NCBI:56947 ∙ OMIM:614785 ∙ HGNC:24858 ∙ Uniprot:Q9GZY8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • encephalopathy due to defective mitochondrial and peroxisomal fission 2 (Definitive), mode of inheritance: AR
  • encephalopathy due to defective mitochondrial and peroxisomal fission 2 (Strong), mode of inheritance: AR
  • encephalopathy due to mitochondrial and peroxisomal fission defect (Moderate), mode of inheritance: AR
  • Leigh syndrome (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Encephalopathy due to defective mitochondrial and peroxisomal fission 2ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingBiochemical; Neurologic; Ophthalmologic22499341; 26783368; 32181496

ClinVar

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

  • not_provided (85 variants)
  • Inborn_genetic_diseases (57 variants)
  • Encephalopathy_due_to_defective_mitochondrial_and_peroxisomal_fission_2 (17 variants)
  • not_specified (12 variants)
  • MFF-related_disorder (4 variants)
  • Mitochondrial_encephalomyopathy (1 variants)
  • Global_developmental_delay (1 variants)
  • Microcephaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFF gene is commonly pathogenic or not. These statistics are base on transcript: NM_001277062.2. 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
16
clinvar
 16
missense
73
clinvar
5
clinvar
 78
nonsense
2
clinvar
1
clinvar
 3
start loss
0
frameshift
3
clinvar
 3
splice donor/acceptor (+/-2bp)
1
clinvar
1
clinvar
 2
Total 5 2 74 21 0

Highest pathogenic variant AF is 0.00303974

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MFFprotein_codingprotein_codingENST00000353339 932684
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.06540.9341256660821257480.000326
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4451872050.9130.00001212189
Missense in Polyphen5868.3170.84898807
Synonymous0.8856170.50.8660.00000399694
Loss of Function3.02620.90.2870.00000132214

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003380.000335
Ashkenazi Jewish0.0006080.000595
East Asian0.0001640.000163
Finnish0.0002800.000277
European (Non-Finnish)0.0002250.000220
Middle Eastern0.0001640.000163
South Asian0.001030.000980
Other0.0005020.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles. {ECO:0000269|PubMed:18353969, ECO:0000269|PubMed:23530241}.;

Recessive Scores

pRec
0.156

Intolerance Scores

loftool
0.864
rvis_EVS
-0.07
rvis_percentile_EVS
48.54

Haploinsufficiency Scores

pHI
0.210
hipred
Y
hipred_score
0.529
ghis
0.579

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
K
gene_indispensability_pred
N
gene_indispensability_score
0.0480

Gene Damage Prediction

AllRecessiveDominant
MendelianHighMediumHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Mff
Phenotype
homeostasis/metabolism phenotype; cellular phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process
mitochondrial fission;release of cytochrome c from mitochondria;protein targeting to mitochondrion;mitochondrial fusion;regulation of mitochondrion organization;peroxisome fission;mitochondrial fragmentation involved in apoptotic process;protein homooligomerization;mitochondrion morphogenesis;positive regulation of mitochondrial fission;positive regulation of release of cytochrome c from mitochondria;positive regulation of protein targeting to membrane;regulation of peroxisome organization
Cellular component
mitochondrion;mitochondrial outer membrane;peroxisome;synaptic vesicle;cell junction;integral component of mitochondrial membrane
Molecular function
protein binding;protein homodimerization activity