MFF (mitochondrial fission factor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56947
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial fission factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MFF
Synonyms (NCBI Gene) Gene synonyms aliases
C2orf33, EMPF2, GL004
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q36.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614785 24858 ENSG00000168958
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Encephalopathy encephalopathy due to defective mitochondrial and peroxisomal fission 2 rs397514615, rs886037862, rs753829320, rs879255690, rs1285225437 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Microcephaly microcephaly N/A N/A ClinVar
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease 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