Gene Gene information from NCBI Gene database.
Entrez ID 56947
Gene name Mitochondrial fission factor
Gene symbol MFF
Synonyms (NCBI Gene)
C2orf33EMPF2GL004
Chromosome 2
Chromosome location 2q36.3
Summary This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Altern
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs397514615 C>T Likely-pathogenic, pathogenic Intron variant, coding sequence variant, stop gained
rs753829320 C>T Pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs879255690 AA>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
rs886037862 ->C Pathogenic Coding sequence variant, frameshift variant, intron variant
rs1285225437 C>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
545
miRTarBase ID miRNA Experiments Reference
MIRT020583 hsa-miR-155-5p Proteomics 18668040
MIRT028269 hsa-miR-32-5p Sequencing 20371350
MIRT054898 hsa-miR-27b-3p Western blot 25431021
MIRT459539 hsa-miR-548av-3p PAR-CLIP 20371350
MIRT459538 hsa-miR-4789-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000266 Process Mitochondrial fission IDA 23283981, 23530241
GO:0000266 Process Mitochondrial fission IEA
GO:0000266 Process Mitochondrial fission IMP 18353969, 21149567
GO:0000266 Process Mitochondrial fission ISS
GO:0005515 Function Protein binding IPI 21149567, 26358295, 29464060, 32296183, 36217029
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614785 24858 ENSG00000168958
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9GZY8
Protein name Mitochondrial fission factor
Protein function Plays a role in mitochondrial and peroxisomal fission (PubMed:18353969, PubMed:23530241, PubMed:24196833). Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface (PubMed:23
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05644 Miff 27 342 Mitochondrial and peroxisomal fission factor Mff Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, kidney, liver, brain, muscle, and stomach. {ECO:0000269|PubMed:18353969}.
Sequence
Sequence length 342
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Likely pathogenic; Pathogenic rs747892565, rs886037862, rs753829320, rs879255690, rs868706737, rs397514615, rs1285225437, rs2075318017 RCV003990956
RCV000239691
RCV000239619
RCV000239645
RCV003990947
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay Likely pathogenic; Pathogenic rs397514615 RCV000162157
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial encephalomyopathy Likely pathogenic; Pathogenic rs397514615 RCV000162157
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EXOSTOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MFF-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Microcephaly Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31582380
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism GWASCAT_DG 30306274
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 30339249
★☆☆☆☆
Found in Text Mining only
Basal Ganglia Diseases Basal Ganglia Diseases BEFREE 26783368
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35538029 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Deglutition Disorders Dysphagia HPO_DG
★☆☆☆☆
Found in Text Mining only
Encephalopathies Epileptic encephalopathy BEFREE 26783368, 30581454
★☆☆☆☆
Found in Text Mining only
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 Encephalopathy ORPHANET_DG 22499341, 26783368
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)