MFF (mitochondrial fission factor)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614785 24858 ENSG00000168958
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
32
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV000033052
RCV000656526
RCV001290306
Global developmental delay Likely pathogenic; Pathogenic rs397514615 RCV000162157
Mitochondrial encephalomyopathy Likely pathogenic; Pathogenic rs397514615 RCV000162157
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MFF-related disorder Likely benign; Benign rs750190140, rs758873739, rs750961619, rs750436824, rs11557342, rs4844 RCV003971175
RCV003968897
RCV003952180
RCV003954896
RCV003972589
RCV003972590
Microcephaly Uncertain significance rs777451654 RCV001252782
Papillary renal cell carcinoma type 1 - rs763555666 RCV006228376
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 35538029
Hypoxia Stimulate 35042949
Lung Diseases Associate 35042949
Mitochondrial Diseases Stimulate 22878233
Muscular Dystrophy Congenital Megaconial Type Associate 34518586
Myelodysplastic Syndromes Associate 29725013
Neoplasms Associate 31542392
Neurodegenerative Diseases Associate 26008206
Ovarian Neoplasms Associate 37291333
Pulmonary Arterial Hypertension Associate 35042949