Aliases for MFF Gene
Aliases for MFF Gene
External Ids for MFF Gene
- HGNC: 24858
- Entrez Gene: 56947
- Ensembl: ENSG00000168958
- OMIM: 614785
- UniProtKB: Q9GZY8
Previous HGNC Symbols for MFF Gene
- C2orf33
Previous GeneCards Identifiers for MFF Gene
- GC02P227899
- GC02P228189
- GC02P220036
Summaries for MFF 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
GeneCards Summary for MFF Gene
MFF (Mitochondrial Fission Factor) is a Protein Coding gene. Diseases associated with MFF include Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 and Mitochondrial Encephalomyopathy. Among its related pathways are Apoptosis and Autophagy. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity.
UniProtKB/Swiss-Prot for MFF Gene
-
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.
Additional gene information for MFF Gene
- Monarch Initiative
- Search for MFF at DataMed
- Search for MFF at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFF Gene
Genomics for MFF Gene
GeneHancer (GH) Regulatory Elements for MFF Gene
Promoters and enhancers for MFF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around MFF on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MFF gene promoter:
-
- MRF-2
- Pax-6
- MEF-2A
- MEF-2
- aMEF-2
- Meis-1a
- C/EBPbeta
- Meis-1
- Meis-1b
- MyoD
Regulatory Element Products
Genomic Locations for MFF Gene
Genomic Locations for MFF Gene
- chr2:227,325,151-227,357,836
- (GRCh38/hg38)
- Size:
- 32,686 bases
- Orientation:
- Plus strand
- chr2:228,189,867-228,222,550
- (GRCh37/hg19)
- Size:
- 32,684 bases
- Orientation:
- Plus strand
Genomic View for MFF Gene
Genes around MFF on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q36.3 by Entrez Gene
- 2q36.3 by HGNC
- 2q36.3 by Ensembl
MFF Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MFF Gene
Proteins for MFF Gene
-
Protein details for MFF Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9GZY8-MFF_HUMAN
- Recommended name:
- Mitochondrial fission factor
- Protein Accession:
- Q9GZY8
- Q567U1
- Q658R6
- Q9BVZ1
- Q9H690
- Q9NRG8
Protein attributes for MFF Gene
- Size:
- 342 amino acids
- Molecular mass:
- 38465 Da
- Quaternary structure:
-
- Homodimer. Interacts with DNM1L (By similarity).
Protein Expression for MFF Gene
Post-translational modifications for MFF Gene
Other Protein References for MFF Gene
- ENSEMBL proteins:
-
- ENSP00000304898
- ENSP00000391829
- ENSP00000390165
- ENSP00000415996
- ENSP00000436920
- ENSP00000436289
- ENSP00000411386
- ENSP00000386641
- ENSP00000435354
- ENSP00000338412
- ENSP00000432447
- ENSP00000302037
- ENSP00000431725
- ENSP00000407547
- ENSP00000415313
- ENSP00000346498
- ENSP00000375912
- ENSP00000304134
- ENSP00000386964
- REFSEQ proteins:
-
- NP_001263997.1
- XP_016860004.1
- XP_024308777.1
- XP_005246741.1
- XP_006712701.1
- XP_016860001.1
- XP_005246738.1
- XP_016860002.1
- NP_064579.3
- NP_001263996.1
- NP_001263991.1
- XP_005246740.1
- XP_024308776.1
- XP_005246743.1
- XP_005246745.1
- XP_006712702.1
- NP_001263990.1
- XP_011509803.1
- NP_001263993.1
- XP_005246742.1
- XP_006712700.1
- NP_001263995.1
- XP_005246744.1
- XP_005246739.1
- XP_016860003.1
- NP_001263992.1
- XP_011509802.1
- NP_001263994.1
Antibody Products
- Novus Biologicals Antibodies for MFF
-
Abcam antibodies for MFF
- Invitrogen Antibodies for MFF (AFLGC-MFF)
- GeneTex MFF Antibody for MFF
-
Boster Bio Antibodies for MFF
-
Santa Cruz Biotechnology (SCBT) Antibodies for MFF
Protein Products
-
OriGene Purified Proteins for MFF
- Search Origene for MassSpec and Protein Over-expression Lysates for MFF
- Origene Custom Protein Services for MFF
- antibodies-online: Search results for 7 available MFF Proteins ranked by validation data
- Compare Top MFF Proteins
-
Quality Products:
- Search GeneTex for Proteins for MFF
No data available for DME Specific Peptides for MFF Gene
Domains & Families for MFF Gene
Gene Families for MFF Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for MFF Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MFF Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9GZY8- Family:
-
- Belongs to the Tango11 family.
Function for MFF Gene
Molecular function for MFF Gene
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for MFF Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 21149567 |
| GO:0042803 | protein homodimerization activity | IDA | 23530241 |
Phenotypes for MFF Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MFF
-
CRISPR Products
-
OriGene CRISPR knockouts for MFF
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MFF
- genomics-online: gRNA clones - Search results for available MFF gene related products
- Applied Biological Materials CRISPR for MFF
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFF
- GenScript: Design CRISPR guide RNA sequences for MFF
miRNA for MFF Gene
- miRTarBase miRNAs that target MFF
-
- hsa-mir-155-5p (MIRT020583)
- hsa-mir-32-5p (MIRT028269)
- hsa-mir-27b-3p (MIRT054898)
- hsa-mir-5589-3p (MIRT459528)
- hsa-mir-8064 (MIRT459529)
- hsa-mir-4738-3p (MIRT459530)
- hsa-mir-1279 (MIRT459531)
- hsa-mir-92b-3p (MIRT459532)
- hsa-mir-92a-3p (MIRT459533)
- hsa-mir-367-3p (MIRT459534)
- hsa-mir-363-3p (MIRT459535)
- hsa-mir-25-3p (MIRT459536)
- hsa-mir-5580-3p (MIRT459537)
- hsa-mir-4789-3p (MIRT459538)
- hsa-mir-548av-3p (MIRT459539)
- hsa-mir-548aw (MIRT544975)
- hsa-mir-19b-3p (MIRT544976)
- hsa-mir-19a-3p (MIRT544977)
- hsa-mir-1468-3p (MIRT544978)
- hsa-mir-548x-5p (MIRT544979)
- hsa-mir-548g-5p (MIRT544980)
- hsa-mir-548f-5p (MIRT544981)
- hsa-mir-548aj-5p (MIRT544982)
- hsa-mir-548o-3p (MIRT544983)
- hsa-mir-1323 (MIRT544984)
- hsa-mir-4295 (MIRT544985)
- hsa-mir-454-3p (MIRT544986)
- hsa-mir-3666 (MIRT544987)
- hsa-mir-301b-3p (MIRT544988)
- hsa-mir-301a-3p (MIRT544989)
- hsa-mir-130b-3p (MIRT544990)
- hsa-mir-130a-3p (MIRT544991)
- hsa-mir-519c-3p (MIRT544992)
- hsa-mir-519b-3p (MIRT544993)
- hsa-mir-519a-3p (MIRT544994)
- hsa-mir-3646 (MIRT544995)
- hsa-mir-186-5p (MIRT544996)
- hsa-mir-3662 (MIRT544997)
- hsa-mir-548t-3p (MIRT544998)
- hsa-mir-548ap-3p (MIRT544999)
- hsa-mir-548aa (MIRT545000)
- hsa-mir-106a-3p (MIRT556139)
- hsa-mir-200a-3p (MIRT733772)
- hsa-mir-593-5p (MIRT735020)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MFF
- Browse OriGene Inhibitory RNA Products For MFF
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFF
- genomics-online: shRNA clones - Search results for available MFF gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for MFF in any vector
- NM_020194.5
- XM_005246686.3
- XM_005246681.3
- XM_005246687.3
- XM_005246685.3
- XM_006712639.2
- XM_006712639.2
- XM_017004512.1
- XM_005246683.1
- XM_005246688.1
- XM_017004513.1
- XM_017004515.1
- XM_006712637.1
- NM_001277066.1
- NM_001277065.1
- XM_011511500.1
- XM_011511500.1
- NM_001277068.1
- XM_011511501.1
- XM_005246684.1
- NM_001277067.1
- XM_006712638.1
- NM_001277062.1
- XM_006712638.1
- NM_001277062.1
- NM_001277063.1
- XM_005246682.1
- XM_017004514.1
- Sino Biological Human cDNA Clone for MFF
- Addgene plasmids for MFF
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MFF
- genomics-online: cdna clones - Search results for available MFF gene related products
- orf clones - Search results for available MFF gene related products
- Applied Biological Materials Clones for MFF
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MFF
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MFF Gene
Localization for MFF Gene
Subcellular locations from UniProtKB/Swiss-Prot for MFF Gene
- Mitochondrion outer membrane; Single-pass type IV membrane protein. Peroxisome. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| peroxisome | 5 |
| nucleus | 2 |
| cytosol | 2 |
| endoplasmic reticulum | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005741 | mitochondrial outer membrane | IEA,IDA | 21149567 |
| GO:0005777 | peroxisome | IDA,IEA | 18353969 |
| GO:0008021 | synaptic vesicle | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for MFF Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptosis and Autophagy | ||
Pathways by source for MFF Gene
3 Cell Signaling Technology pathways for MFF Gene
Interacting Proteins for MFF Gene
Selected Interacting proteins:
Q9GZY8-MFF_HUMAN
ENSP00000302037
for MFF Gene via
UniProtKB
IID
STRING
GPS-Prot Interaction Network for MFF
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000266 | mitochondrial fission | ISS | -- |
| GO:0001836 | release of cytochrome c from mitochondria | IMP | 18353969 |
| GO:0006626 | protein targeting to mitochondrion | IMP | 21149567 |
| GO:0008053 | mitochondrial fusion | IMP | 23921378 |
| GO:0010821 | regulation of mitochondrion organization | IMP | 18353969 |
No data available for SIGNOR curated interactions for MFF Gene
Transcripts for MFF Gene
mRNA/cDNA for MFF Gene
- (28) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (466) Selected AceView cDNA sequences:
- (27) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000423098 581 bps (uc061tff.1)
- ENST00000304593 2004 bps (uc002vot.5)
- ENST00000476924 820 bps (uc031rrn.2)
- ENST00000489696 639 bps (uc061tfg.1)
- ENST00000353339 2186 bps (uc002vos.5)
Unigene Clusters for MFF Gene
- Mitochondrial fission factor:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MFF
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MFF
- genomics-online: gRNA clones - Search results for available MFF gene related products
- Applied Biological Materials CRISPR for MFF
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFF
- GenScript: Design CRISPR guide RNA sequences for MFF
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MFF
- Browse OriGene Inhibitory RNA Products For MFF
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFF
- genomics-online: shRNA clones - Search results for available MFF gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for MFF in any vector
- NM_020194.5
- XM_005246686.3
- XM_005246681.3
- XM_005246687.3
- XM_005246685.3
- XM_006712639.2
- XM_006712639.2
- XM_017004512.1
- XM_005246683.1
- XM_005246688.1
- XM_017004513.1
- XM_017004515.1
- XM_006712637.1
- NM_001277066.1
- NM_001277065.1
- XM_011511500.1
- XM_011511500.1
- NM_001277068.1
- XM_011511501.1
- XM_005246684.1
- NM_001277067.1
- XM_006712638.1
- NM_001277062.1
- XM_006712638.1
- NM_001277062.1
- NM_001277063.1
- XM_005246682.1
- XM_017004514.1
- Sino Biological Human cDNA Clone for MFF
- Addgene plasmids for MFF
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MFF
- genomics-online: cdna clones - Search results for available MFF gene related products
- orf clones - Search results for available MFF gene related products
- Applied Biological Materials Clones for MFF
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | · | 1h | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - |
| ExUns: | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | · | 14d | · | 14e | · | 14f |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||
| SP2: | |||||||||||||||||||
| SP3: | - | - | |||||||||||||||||
| SP4: | |||||||||||||||||||
| SP5: | |||||||||||||||||||
| SP6: | - | ||||||||||||||||||
| SP7: | - | - | |||||||||||||||||
| SP8: | |||||||||||||||||||
| SP9: | |||||||||||||||||||
| SP10: | |||||||||||||||||||
| SP11: | - | ||||||||||||||||||
| SP12: | |||||||||||||||||||
| SP13: | |||||||||||||||||||
| SP14: | |||||||||||||||||||
| SP15: | |||||||||||||||||||
| SP16: |
Expression for MFF Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Peripheral blood mononuclear cells (16.8) and Testis (9.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MFF Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MFF Gene:
MFFSOURCE GeneReport for Unigene cluster for MFF Gene:
Hs.471528mRNA Expression by UniProt/SwissProt for MFF Gene:
Q9GZY8-MFF_HUMAN
Tissue specificity:
Highly expressed in heart, kidney, liver, brain, muscle, and stomach.
Evidence on tissue expression from TISSUES for MFF Gene
- Nervous system(4.7)
- Adrenal gland(4.3)
- Liver(4.3)
- Stomach(4.3)
- Lung(3.1)
- Heart(2.2)
- Muscle(2.2)
- Skin(2.2)
Primer Products
-
OriGene qPCR primer pairs for MFF
-
OriGene qPCR primer pairs and template standards for MFF
- genomics-online: primer clones - Search results for available MFF gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFF Gene
Orthologs for MFF Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MFF 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mff 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MFF 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | LOC102556337 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MFF 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MFF 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MFF 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MFF 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.2181 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.31432 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mff 34 33 |
|
OneToMany | |
| MFF (1 of 2) 34 |
|
OneToMany | |||
| zgc66022 33 |
|
- Species where no ortholog for MFF was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- dog (Canis familiaris)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for MFF Gene
- ENSEMBL:
- Gene Tree for MFF (if available)
- TreeFam:
- Gene Tree for MFF (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MFF: view image
Paralogs for MFF Gene
Pseudogenes.org Pseudogenes for MFF Gene
No data available for Paralogs for MFF Gene
Variants for MFF Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs397514615 | pathogenic, likely-pathogenic, Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Global developmental delay, Mitochondrial encephalomyopathy | 227,330,777(+) | C/T | coding_sequence_variant, intron_variant, stop_gained | |
| rs753829320 | pathogenic, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 227,355,756(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs879255690 | pathogenic, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 227,340,312(+) | AAAAA/AAA | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs886037862 | pathogenic, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 227,330,770(+) | CC/CCC | coding_sequence_variant, frameshift, intron_variant | |
| VAR_036028 | A colorectal cancer sample | p.Glu29Lys |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2163n106 | CNV | deletion | 24896259 |
| dgv2164n106 | CNV | deletion | 24896259 |
| esv2721554 | CNV | deletion | 23290073 |
| esv2721555 | CNV | deletion | 23290073 |
| esv2721556 | CNV | deletion | 23290073 |
| esv2721557 | CNV | deletion | 23290073 |
| esv2721558 | CNV | deletion | 23290073 |
| esv3594532 | CNV | loss | 21293372 |
| esv3594533 | CNV | loss | 21293372 |
| nsv1072076 | CNV | deletion | 25765185 |
| nsv1072077 | CNV | deletion | 25765185 |
| nsv1072499 | CNV | deletion | 25765185 |
| nsv1073016 | CNV | deletion | 25765185 |
| nsv1127804 | CNV | deletion | 24896259 |
| nsv1152322 | CNV | deletion | 26484159 |
| nsv1153358 | CNV | deletion | 26484159 |
| nsv584594 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
57.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
13.87;
95.90% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MFF Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFF Gene
Disorders for MFF Gene
(10) MalaCards diseases for MFF Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
|
|
| mitochondrial encephalomyopathy |
|
|
| sclerosing keratitis |
|
|
| loiasis |
|
|
| anterior scleritis |
|
|
Search MFF in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MFF_HUMAN- Encephalopathy due to defective mitochondrial and peroxisomal fission 2 (EMPF2) [MIM:617086]: An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy. {ECO:0000269 PubMed:26783368}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MFF
No data available for Genatlas for MFF Gene
Publications for MFF Gene
- The novel tail-anchored membrane protein Mff controls mitochondrial and peroxisomal fission in mammalian cells. (PMID: 18353969) Gandre-Babbe S … van der Bliek AM (Molecular biology of the cell 2008) 2 3 4 58
- Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. (PMID: 26783368) Koch J … Haack TB (Journal of medical genetics 2016) 3 4 58
- Adaptor proteins MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission. (PMID: 23921378) Palmer CS … Ryan MT (The Journal of biological chemistry 2013) 3 4 58
- Interchangeable adaptors regulate mitochondrial dynamin assembly for membrane scission. (PMID: 23530241) Koirala S … Shaw JM (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
- Potential use of TIA-1, MFF, microRNA-200a-3p, and microRNA-27 as a novel marker for hepatocellular carcinoma. (PMID: 29496454) Tak H … Lee EK (Biochemical and biophysical research communications 2018) 3 58
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Sources for MFF Gene
- (1) GeneCards
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