Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

MFN2_HUMAN

Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed, PubMed, PubMed, PubMed). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed). Overexpression induces the formation of mitochondrial networks (PubMed). Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes . Plays an important role in the regulation of vascular smooth muscle cell proliferation . Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) (PubMed). Is required for PRKN recruitment to dysfunctional mitochondria (PubMed). Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress . Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions . [View more on UniProt]

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Download full PS network for entry.
Position Amino acid Mutation Disease Overlap with binding region
69 Val Phe Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
76 Leu Pro Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
94 Arg Gln Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
94 Arg Gln Charcot-Marie-Toothdisease2A2B(CMT2A2B) -
94 Arg Gln Neuropathy,hereditarymotorandsensory,6A,withopticatrophy(HMSN6A) -
251 Pro Ala Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
280 Arg His Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
740 Trp Ser Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
357 Lys Asn Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
94 Arg Trp Neuropathy,hereditarymotorandsensory,6A,withopticatrophy(HMSN6A) -
206 Thr Ile Neuropathy,hereditarymotorandsensory,6A,withopticatrophy(HMSN6A) -
276 Gln Arg Neuropathy,hereditarymotorandsensory,6A,withopticatrophy(HMSN6A) -
361 His Tyr Neuropathy,hereditarymotorandsensory,6A,withopticatrophy(HMSN6A) -
364 Arg Trp Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
364 Arg Trp Neuropathy,hereditarymotorandsensory,6A,withopticatrophy(HMSN6A) -
233 Leu Val Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
744 Glu Met Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
216 Phe Ser Charcot-Marie-Toothdisease2A2B(CMT2A2B) -
707 Arg Trp Charcot-Marie-Toothdisease2A2A(CMT2A2A) -
707 Arg Trp Charcot-Marie-Toothdisease2A2B(CMT2A2B) -

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Term Name % Distance from the top of the tree Annotated in MFN2_HUMAN
GO:0017076 purine nucleotide binding 34.4262 4 yes
GO:0032555 purine ribonucleotide binding 32.7869 4 yes
GO:0031625 ubiquitin protein ligase binding 29.5082 5 yes
GO:0035639 purine ribonucleoside triphosphate binding 29.5082 4 yes
GO:0044389 ubiquitin-like protein ligase binding 29.5082 4 yes
GO:0003723 RNA binding 27.8689 4 no
GO:0016462 pyrophosphatase activity 22.9508 5 yes
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides 22.9508 4 yes
GO:0017111 ribonucleoside triphosphate phosphatase activity 22.9508 6 yes
GO:0030554 adenyl nucleotide binding 21.3115 5 no
GO:0005525 GTP binding 14.7541 5 yes
GO:0019001 guanyl nucleotide binding 14.7541 5 yes
GO:0032561 guanyl ribonucleotide binding 14.7541 5 yes
GO:0003924 GTPase activity 13.1148 7 yes

Biological process

Term Name % Distance from top the of the tree Annotated in MFN2_HUMAN
GO:0006996 organelle organization 40.9836 4 yes
GO:0048522 positive regulation of cellular process 37.7049 4 yes
GO:0051171 regulation of nitrogen compound metabolic process 37.7049 4 no
GO:0060255 regulation of macromolecule metabolic process 37.7049 4 no
GO:0080090 regulation of primary metabolic process 37.7049 4 no
GO:0048523 negative regulation of cellular process 36.0656 4 yes
GO:0010646 regulation of cell communication 32.7869 4 yes
GO:0022607 cellular component assembly 31.1475 4 no
GO:0051246 regulation of protein metabolic process 31.1475 5 no
GO:0009966 regulation of signal transduction 29.5082 4 yes
GO:0010941 regulation of cell death 29.5082 4 yes
GO:0031323 regulation of cellular metabolic process 29.5082 4 no
GO:0042981 regulation of apoptotic process 27.8689 6 yes
GO:0043067 regulation of programmed cell death 27.8689 5 yes
GO:0061024 membrane organization 27.8689 4 yes
GO:0006508 proteolysis 27.8689 4 no
GO:0009057 macromolecule catabolic process 27.8689 4 no
GO:0051128 regulation of cellular component organization 26.2295 4 no
GO:0044265 cellular macromolecule catabolic process 26.2295 4 no
GO:0008104 protein localization 26.2295 4 yes
GO:0009893 positive regulation of metabolic process 24.5902 4 yes
GO:0051603 proteolysis involved in protein catabolic process 24.5902 5 no
GO:0071702 organic substance transport 22.9508 4 yes
GO:0071705 nitrogen compound transport 22.9508 4 yes
GO:0019941 modification-dependent protein catabolic process 22.9508 6 no
GO:0043632 modification-dependent macromolecule catabolic process 22.9508 5 no
GO:0007005 mitochondrion organization 22.9508 5 yes
GO:0015031 protein transport 21.3115 4 yes
GO:0033043 regulation of organelle organization 21.3115 5 no
GO:0031399 regulation of protein modification process 21.3115 6 no
GO:0051049 regulation of transport 21.3115 4 no
GO:0048584 positive regulation of response to stimulus 21.3115 4 no
GO:0006886 intracellular protein transport 21.3115 4 yes
GO:1902531 regulation of intracellular signal transduction 19.6721 5 yes
GO:0033365 protein localization to organelle 18.0328 5 yes
GO:0070585 protein localization to mitochondrion 16.3934 6 yes
GO:0006839 mitochondrial transport 16.3934 4 yes
GO:0072594 establishment of protein localization to organelle 14.7541 4 yes
GO:0009968 negative regulation of signal transduction 13.1148 5 yes
GO:0010648 negative regulation of cell communication 13.1148 5 yes
GO:0023057 negative regulation of signaling 13.1148 4 yes
GO:0048284 organelle fusion 13.1148 5 yes
GO:0048585 negative regulation of response to stimulus 13.1148 4 yes
GO:0072655 establishment of protein localization to mitochondrion 13.1148 5 yes
GO:0006605 protein targeting 13.1148 5 yes
GO:0007006 mitochondrial membrane organization 13.1148 5 yes
GO:0010942 positive regulation of cell death 11.4754 5 yes
GO:0043065 positive regulation of apoptotic process 11.4754 7 yes
GO:0043068 positive regulation of programmed cell death 11.4754 6 yes
GO:0006626 protein targeting to mitochondrion 11.4754 5 yes
GO:0006915 apoptotic process 11.4754 4 yes
GO:0042127 regulation of cell population proliferation 9.8361 4 yes
GO:0051240 positive regulation of multicellular organismal process 9.8361 4 yes
GO:0006986 response to unfolded protein 9.8361 4 yes
GO:0008053 mitochondrial fusion 9.8361 6 yes
GO:1902532 negative regulation of intracellular signal transduction 8.1967 6 yes
GO:0008284 positive regulation of cell population proliferation 6.5574 5 yes
GO:0008285 negative regulation of cell population proliferation 6.5574 5 yes
GO:0046578 regulation of Ras protein signal transduction 4.9180 7 yes
GO:0051056 regulation of small GTPase mediated signal transduction 4.9180 6 yes
GO:0061734 parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization 4.9180 8 yes
GO:0098779 positive regulation of mitophagy in response to mitochondrial depolarization 4.9180 7 yes
GO:0098780 response to mitochondrial depolarisation 4.9180 4 yes
GO:1904923 regulation of autophagy of mitochondrion in response to mitochondrial depolarization 4.9180 5 yes
GO:1904925 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization 4.9180 6 yes
GO:0010660 regulation of muscle cell apoptotic process 3.2787 7 yes
GO:0010661 positive regulation of muscle cell apoptotic process 3.2787 8 yes
GO:0034391 regulation of smooth muscle cell apoptotic process 3.2787 8 yes
GO:0034393 positive regulation of smooth muscle cell apoptotic process 3.2787 9 yes
GO:0034497 protein localization to phagophore assembly site 3.2787 5 yes
GO:0046580 negative regulation of Ras protein signal transduction 3.2787 8 yes
GO:0048592 eye morphogenesis 3.2787 5 yes
GO:0048593 camera-type eye morphogenesis 3.2787 6 yes
GO:0048660 regulation of smooth muscle cell proliferation 3.2787 5 yes
GO:0048661 positive regulation of smooth muscle cell proliferation 3.2787 6 yes
GO:0048662 negative regulation of smooth muscle cell proliferation 3.2787 6 yes
GO:0051058 negative regulation of small GTPase mediated signal transduction 3.2787 7 yes
GO:0090596 sensory organ morphogenesis 3.2787 4 yes
GO:0120162 positive regulation of cold-induced thermogenesis 3.2787 4 yes
GO:1904705 regulation of vascular associated smooth muscle cell proliferation 3.2787 6 yes
GO:1904707 positive regulation of vascular associated smooth muscle cell proliferation 3.2787 7 yes
GO:1905459 regulation of vascular associated smooth muscle cell apoptotic process 3.2787 9 yes
GO:1905461 positive regulation of vascular associated smooth muscle cell apoptotic process 3.2787 10 yes

Disease

Term Name % Distance from top the of the tree Annotated in MFN2_HUMAN
DOID:574 peripheral nervous system disease 8.1967 3 yes
DOID:870 neuropathy 8.1967 4 yes
DOID:0050539 Charcot-Marie-Tooth disease type 2 4.9180 7 yes
DOID:10595 Charcot-Marie-Tooth disease 4.9180 6 yes
DOID:440 neuromuscular disease 4.9180 5 yes
DOID:700 mitochondrial metabolism disease 3.2787 3 no
DOID:1891 optic nerve disease 3.2787 6 no
DOID:5656 cranial nerve disease 3.2787 5 no
DOID:5723 optic atrophy 3.2787 7 no
DOID:0080068 Charcot-Marie-Tooth disease type 6 3.2787 7 yes
DOID:0110155 Charcot-Marie-Tooth disease type 2A2A 3.2787 8 yes
DOID:0111557 Charcot-Marie-Tooth disease type 2A2B 3.2787 8 yes
DOID:0070329 mitochondrial DNA depletion syndrome 3.2787 4 no
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
MARH5_HUMAN [view interactions] Low throughput no no
TCHP_HUMAN [view interactions] Low throughput no yes
E2AK3_HUMAN [view interactions] Low throughput no yes
LRRK2_HUMAN [view interactions] Low throughput no yes
TERA_HUMAN [view entry] [view interactions] Low throughput yes yes
SAM50_HUMAN [view entry] [view interactions] Low throughput yes yes
MFN1_HUMAN [view interactions] Low throughput no yes
BAK_HUMAN [view interactions] Low throughput no no
BAX_HUMAN [view interactions] Low throughput no yes
MFN2_HUMAN [view entry] [view interactions] Low throughput yes yes
PINK1_HUMAN [view interactions] Low throughput no yes
PRKN_HUMAN [view entry] [view interactions] Low throughput yes yes
MK09_HUMAN [view interactions] Low throughput no yes
HUWE1_HUMAN [view interactions] Low throughput no yes
MAVS_HUMAN [view interactions] Low throughput no yes
UBE2N_HUMAN [view entry] [view interactions] Low throughput yes yes
HS71B_HUMAN [view entry] [view interactions] Low throughput yes yes
HS71A_HUMAN [view entry] [view interactions] Low throughput yes yes
HDAC6_HUMAN [view interactions] Low throughput no yes
S2538_HUMAN [view interactions] Low throughput no yes
S2546_HUMAN [view entry] [view interactions] Low throughput yes yes
DIK2A_HUMAN [view interactions] Low throughput no yes
NNRE_HUMAN [view interactions] Low throughput no yes
GBRB3_HUMAN [view entry] [view interactions] Low throughput yes no
GBRG2_HUMAN [view entry] [view interactions] Low throughput yes no
REEP5_HUMAN [view entry] [view interactions] High throughput yes yes
VSIG1_HUMAN [view interactions] High throughput no no
GHITM_HUMAN [view interactions] High throughput no yes
HSC20_HUMAN [view interactions] High throughput no yes
CYFP1_HUMAN [view entry] [view interactions] High throughput yes yes
SMAD2_HUMAN [view interactions] High throughput no yes
NXF1_HUMAN [view interactions] High throughput no yes
NTRK1_HUMAN [view interactions] High throughput no yes
EGLN3_HUMAN [view interactions] High throughput no no
RNF4_HUMAN [view interactions] High throughput no yes
UB2R1_HUMAN [view interactions] High throughput no yes
PKHA4_HUMAN [view interactions] High throughput no yes
KIF14_HUMAN [view interactions] High throughput no no
KDF1_HUMAN [view interactions] High throughput no yes
EDEM1_HUMAN [view interactions] High throughput no yes
CP2CJ_HUMAN [view interactions] High throughput no no
THY1_HUMAN [view entry] [view interactions] High throughput yes yes
CC018_HUMAN [view interactions] High throughput no yes
AKAP1_HUMAN [view entry] [view interactions] High throughput yes yes
GLPA_HUMAN [view interactions] High throughput no no
TRAK2_HUMAN [view interactions] High throughput no yes
SRBP2_HUMAN [view interactions] High throughput no yes
EGFR_HUMAN [view interactions] High throughput no no
RASK_HUMAN [view entry] [view interactions] High throughput yes no
RIT1_HUMAN [view interactions] High throughput no yes
OTUD4_HUMAN [view interactions] High throughput no yes
SMAD4_HUMAN [view interactions] High throughput no yes
FKBP8_HUMAN [view entry] [view interactions] High throughput yes yes
ACTBL_HUMAN [view interactions] High throughput no no
PUR8_HUMAN [view interactions] High throughput no yes
AIP_HUMAN [view entry] [view interactions] High throughput yes yes
AL3A2_HUMAN [view entry] [view interactions] High throughput yes yes
ATX3_HUMAN [view interactions] High throughput no yes
BAG2_HUMAN [view entry] [view interactions] High throughput yes no
CK049_HUMAN [view interactions] High throughput no yes
CI072_HUMAN [view interactions] High throughput no no
CYBP_HUMAN [view entry] [view interactions] High throughput yes yes
CDC37_HUMAN [view interactions] High throughput no yes
CFA36_HUMAN [view interactions] High throughput no yes
CIP2A_HUMAN [view interactions] High throughput no yes
CLH1_HUMAN [view entry] [view interactions] High throughput yes yes
CRBG3_HUMAN [view interactions] High throughput no no
DIP2A_HUMAN [view interactions] High throughput no no
DNM1L_HUMAN [view entry] [view interactions] High throughput yes yes
FKBP4_HUMAN [view entry] [view interactions] High throughput yes yes
GLMN_HUMAN [view interactions] High throughput no no
GOGA3_HUMAN [view interactions] High throughput no yes
IBTK_HUMAN [view interactions] High throughput no yes
IPO5_HUMAN [view entry] [view interactions] High throughput yes yes
KBP_HUMAN [view interactions] High throughput no yes
LARP4_HUMAN [view interactions] High throughput no yes
LRC49_HUMAN [view interactions] High throughput no no
MYH10_HUMAN [view entry] [view interactions] High throughput yes yes
MYO19_HUMAN [view interactions] High throughput no yes
NAA15_HUMAN [view interactions] High throughput no yes
NBR1_HUMAN [view interactions] High throughput no yes
NIPS1_HUMAN [view entry] [view interactions] High throughput yes yes
NIPS2_HUMAN [view interactions] High throughput no yes
NSF1C_HUMAN [view entry] [view interactions] High throughput yes yes
NUDC_HUMAN [view interactions] High throughput no yes
NUDC3_HUMAN [view interactions] High throughput no yes
OCAD1_HUMAN [view interactions] High throughput no yes
OCRL_HUMAN [view interactions] High throughput no yes
PIHD1_HUMAN [view interactions] High throughput no yes
KAP2_HUMAN [view entry] [view interactions] High throughput yes yes
KAP3_HUMAN [view entry] [view interactions] High throughput yes yes
KPCI_HUMAN [view entry] [view interactions] High throughput yes yes
PSA1_HUMAN [view interactions] High throughput no yes
PSA2_HUMAN [view interactions] High throughput no yes
PSA3_HUMAN [view interactions] High throughput no no
PSA5_HUMAN [view interactions] High throughput no yes
PSA6_HUMAN [view interactions] High throughput no yes
PSA7_HUMAN [view interactions] High throughput no yes
PSB1_HUMAN [view interactions] High throughput no yes
PSB3_HUMAN [view interactions] High throughput no yes
PSB4_HUMAN [view interactions] High throughput no yes
PSB5_HUMAN [view interactions] High throughput no yes
PSB6_HUMAN [view entry] [view interactions] High throughput yes yes
PSB7_HUMAN [view interactions] High throughput no yes
PRS4_HUMAN [view entry] [view interactions] High throughput yes yes
PRS7_HUMAN [view interactions] High throughput no yes
PRS6A_HUMAN [view entry] [view interactions] High throughput yes yes
PRS6B_HUMAN [view interactions] High throughput no yes
PRS8_HUMAN [view interactions] High throughput no yes
PRS10_HUMAN [view interactions] High throughput no yes
PSMD1_HUMAN [view entry] [view interactions] High throughput yes yes
PSD11_HUMAN [view entry] [view interactions] High throughput yes yes
PSD13_HUMAN [view interactions] High throughput no yes
PSMD2_HUMAN [view entry] [view interactions] High throughput yes yes
PSMD4_HUMAN [view interactions] High throughput no yes
PSMD6_HUMAN [view interactions] High throughput no yes
PSMD7_HUMAN [view interactions] High throughput no yes
MIRO2_HUMAN [view entry] [view interactions] High throughput yes yes
SMCR8_HUMAN [view interactions] High throughput no yes
SNP47_HUMAN [view entry] [view interactions] High throughput yes yes
SQSTM_HUMAN [view interactions] High throughput no yes
F10A1_HUMAN [view interactions] High throughput no yes
STIP1_HUMAN [view entry] [view interactions] High throughput yes yes
TDRKH_HUMAN [view interactions] High throughput no no
TM160_HUMAN [view interactions] High throughput no no
TPGS1_HUMAN [view interactions] High throughput no no
TPM3_HUMAN [view entry] [view interactions] High throughput yes yes
TPM4_HUMAN [view entry] [view interactions] High throughput yes yes
TTC1_HUMAN [view interactions] High throughput no yes
TTC4_HUMAN [view interactions] High throughput no yes
TXNL1_HUMAN [view entry] [view interactions] High throughput yes yes
UBB_HUMAN [view entry] [view interactions] High throughput yes yes
UBR4_HUMAN [view entry] [view interactions] High throughput yes yes
UBXN4_HUMAN [view interactions] High throughput no yes
VCIP1_HUMAN [view entry] [view interactions] High throughput yes no
VP13D_HUMAN [view interactions] High throughput no no
WDR41_HUMAN [view interactions] High throughput no yes
YKT6_HUMAN [view interactions] High throughput no yes
ZZEF1_HUMAN [view interactions] High throughput no no
MTCH1_HUMAN [view entry] [view interactions] High throughput yes yes
EXD2_HUMAN [view interactions] High throughput no yes
TFAM_HUMAN [view entry] [view interactions] Computational yes yes
MIRO1_HUMAN [view entry] [view interactions] Computational yes yes
MFF_HUMAN [view entry] [view interactions] Computational yes yes
GDAP1_HUMAN [view entry] [view interactions] Computational yes yes
B2CL1_HUMAN [view interactions] Computational no yes
PSN2_HUMAN [view entry] [view interactions] Computational yes no
PACS2_HUMAN [view interactions] Computational no no
RS27A_HUMAN [view entry] [view interactions] Computational yes yes
UBC_HUMAN [view entry] [view interactions] Computational yes yes
RL40_HUMAN [view entry] [view interactions] Computational yes yes
MLP3B_HUMAN [view interactions] Computational no yes
GRP75_HUMAN [view entry] [view interactions] Computational yes yes
FIS1_HUMAN [view entry] [view interactions] Computational yes yes
TOM20_HUMAN [view entry] [view interactions] Computational yes yes
OPA1_HUMAN [view entry] [view interactions] Computational yes yes
PLIN1_HUMAN [view interactions] Computational no no
DYN1_HUMAN [view entry] [view interactions] Computational yes yes
ATG5_HUMAN [view interactions] Computational no no
MTEF3_HUMAN [view interactions] Computational no no
SIR1_HUMAN [view interactions] Computational no yes
PARL_HUMAN [view interactions] Computational no yes
VDAC1_HUMAN [view entry] [view interactions] Computational yes yes