Seroatlas · Human Serome Atlas

MFN2

Mitofusin-2

Also known as: CMT2A2, CPRP1, KIAA0214, MARF, MFN2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O95140
Gene: MFN2
Ensembl: ENSG00000116688
Chromosome: 1
Canonical length: 757 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Mitochondria
Quaternary structure: Homomultimer

OverviewNCBI 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 proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

757 residues, UniProt reviewed canonical sequence.

>O95140|MFN2
     1  MSLLFSRCNS IVTVKKNKRH MAEVNASPLK HFVTAKKKIN GIFEQLGAYI QESATFLEDT
    61  YRNAELDPVT TEEQVLDVKG YLSKVRGISE VLARRHMKVA FFGRTSNGKS TVINAMLWDK
   121  VLPSGIGHTT NCFLRVEGTD GHEAFLLTEG SEEKRSAKTV NQLAHALHQD KQLHAGSLVS
   181  VMWPNSKCPL LKDDLVLMDS PGIDVTTELD SWIDKFCLDA DVFVLVANSE STLMQTEKHF
   241  FHKVSERLSR PNIFILNNRW DASASEPEYM EEVRRQHMER CTSFLVDELG VVDRSQAGDR
   301  IFFVSAKEVL NARIQKAQGM PEGGGALAEG FQVRMFEFQN FERRFEECIS QSAVKTKFEQ
   361  HTVRAKQIAE AVRLIMDSLH MAAREQQVYC EEMREERQDR LKFIDKQLEL LAQDYKLRIK
   421  QITEEVERQV STAMAEEIRR LSVLVDDYQM DFHPSPVVLK VYKNELHRHI EEGLGRNMSD
   481  RCSTAITNSL QTMQQDMIDG LKPLLPVSVR SQIDMLVPRQ CFSLNYDLNC DKLCADFQED
   541  IEFHFSLGWT MLVNRFLGPK NSRRALMGYN DQVQRPIPLT PANPSMPPLP QGSLTQEEFM
   601  VSMVTGLASL TSRTSMGILV VGGVVWKAVG WRLIALSFGL YGLLYVYERL TWTTKAKERA
   661  FKRQFVEHAS EKLQLVISYT GSNCSHQVQQ ELSGTFAHLC QQVDVTRENL EQEIAAMNKK
   721  IEVLDSLQSK AKLLRNKAGW LDSELNMFTH QYLQPSR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MFN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 2
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 315 nTPM

Expression across tissuesHPA

Tissue

tongue: 315 nTPM
skeletal muscle: 291 nTPM
heart muscle: 253 nTPM
parathyroid gland: 72 nTPM
seminal vesicle: 59 nTPM
esophagus: 53 nTPM

Single-cell type

platelets: 261 nCPM
neutrophils: 256 nCPM
cardiomyocytes: 145 nCPM
neutrophil progenitors: 104 nCPM
myonuclei: 85 nCPM
parietal cells: 67 nCPM

Immune cell

non-classical monocyte: 18 nTPM
neutrophil: 16 nTPM
total PBMC: 16 nTPM
intermediate monocyte: 14 nTPM
classical monocyte: 12 nTPM
basophil: 10 nTPM

Brain region

thalamus: 113 nTPM
midbrain: 105 nTPM
spinal cord: 102 nTPM
hypothalamus: 98 nTPM
basal ganglia: 96 nTPM
cerebral cortex: 95 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MFN2.

Disease | AllUniProt

Conditions MFN2 is implicated in, by any mechanism.

Charcot-Marie-Tooth disease, axonal, type 2A2B (CMT2A2B) MIM:617087
Charcot-Marie-Tooth disease, axonal, type 2A2A (CMT2A2A) MIM:609260
Neuropathy, hereditary motor and sensory, 6A, with optic atrophy (HMSN6A) MIM:601152
Lipomatosis, multiple symmetric, with or without peripheral neuropathy (MSL) MIM:151800

Disease | GeneticClinVar

200 pathogenic / likely-pathogenic of 1,437 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.28
gnomAD pLI: 0.99
gnomAD missense Z: 1.66
DepMap mean gene effect: -0.75
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MFN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MFN2 as an antibody target. Whether an autoantibody or antibody against MFN2 could matter depends on whether native MFN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MFN2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MFN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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