Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9927
Gene name Gene Name - the full gene name approved by the HGNC.
Mitofusin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MFN2
Synonyms (NCBI Gene) Gene synonyms aliases
CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, MSL
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell prolifera
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28940291 G>A,C Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs28940292 G>C Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs28940293 T>C,G Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs28940294 G>A,C Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs28940295 C>G,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023877 hsa-miR-1-3p Proteomics 18668040
MIRT031906 hsa-miR-16-5p Proteomics 18668040
MIRT049714 hsa-miR-92a-3p CLASH 23622248
MIRT048771 hsa-miR-93-5p CLASH 23622248
MIRT047398 hsa-miR-34a-5p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
PPARGC1A Activation 17828388
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001825 Process Blastocyst formation IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 16936636, 17121834, 19052620, 23620051, 24282027, 25008184, 27059175, 28514442, 33961781, 35271311
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608507 16877 ENSG00000116688
Protein
UniProt ID O95140
Protein name Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN2)
Protein function Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:19889647, PubMed:26214738, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is dete
PDB 6JFK , 6JFL , 6JFM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00350 Dynamin_N 99 259 Dynamin family Domain
PF04799 Fzo_mitofusin 594 754 fzo-like conserved region Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous; expressed at low level. Highly expressed in heart and kidney. {ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:12759376}.
Sequence
MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDT
YRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDK
VLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVS
VMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHF
FHKVSERLSRPNIFILNNR
WDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDR
IFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQ
HTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIK
QITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSD
RCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQED
IEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFM
VSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERA
FKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKK
IEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQ
PSR
Sequence length 757
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mitophagy - animal
NOD-like receptor signaling pathway
Parkinson disease
Pathways of neurodegeneration - multiple diseases
  Pink/Parkin Mediated Mitophagy
Factors involved in megakaryocyte development and platelet production
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 2A2, charcot-marie-tooth disease type 4 rs1569842714, rs28940292, rs1557537223, rs879253777, rs1557525005, rs119103268, rs794729198, rs1569854342, rs119103261, rs1057517987, rs866604005, rs1266361856, rs863224970, rs1569834500, rs119103265
View all (80 more)
N/A
hereditary motor and sensory neuropathy with optic atrophy Hereditary motor and sensory neuropathy with optic atrophy rs863224967, rs119103266, rs387906991, rs119103263, rs119103268, rs1057517987, rs119103265, rs1553145402, rs864622480 N/A
Hereditary sensory and autonomic neuropathy Neuropathy, hereditary motor and sensory, type 6A rs863224970, rs879253939, rs1639043704, rs28940294, rs28940291 N/A
cerebellar ataxia Cerebellar ataxia rs863224069 N/A
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
Axonal Neuropathy severe early-onset axonal neuropathy due to MFN2 deficiency N/A N/A GenCC
Dermatitis Atopic dermatitis N/A N/A GWAS
hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy N/A N/A ClinVar
Multiple Symmetric Lipomatosis multiple symmetric lipomatosis N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36877954
Alcoholic Neuropathy Associate 21987543, 24803844, 28063088, 28414270, 29341354, 30642740, 35418194
Alzheimer Disease Associate 24252614, 33998543
Asthenozoospermia Associate 30058380
Ataxia Associate 32532879, 38274408
Autism Spectrum Disorder Associate 23333625, 31018497
Bipolar Disorder Inhibit 28463235
Blindness Associate 38274408
Brain Diseases Associate 21987543
Breast Neoplasms Associate 30932749, 31535669