Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

MFN2_HUMAN

Evidence for PS localization

GO
G2C
SynGO
SynaptomeDB
HPA (protein expression in neurons)

Functions

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]

Protein features

Binary interactions with known binding regions

To display all evidence describing the interaction with a partner, click on the protein name left to the bars.

Network

Download full PS network for entry.

Isoforms

Disease-causing germline mutations

Position Amino acid Mutation Disease Overlap with binding region
69 Val Phe Charcot-Marie-Toothdisease,axonal,2A2A(CMT2A2A) -
76 Leu Pro Charcot-Marie-Toothdisease,axonal,2A2A(CMT2A2A) -
94 Arg Gln Charcot-Marie-Toothdisease,axonal,2A2A(CMT2A2A) -
94 Arg Gln Charcot-Marie-Toothdisease,axonal,2A2B(CMT2A2B) -
94 Arg Gln Neuropathy,hereditarymotorandsensory,6A,withopticatrophy(HMSN6A) -
251 Pro Ala Charcot-Marie-Toothdisease,axonal,2A2A(CMT2A2A) -
280 Arg His Charcot-Marie-Toothdisease,axonal,2A2A(CMT2A2A) -
740 Trp Ser Charcot-Marie-Toothdisease,axonal,2A2A(CMT2A2A) -
357 Lys Asn Charcot-Marie-Toothdisease,axonal,2A2A(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-Toothdisease,axonal,2A2A(CMT2A2A) -
364 Arg Trp Neuropathy,hereditarymotorandsensory,6A,withopticatrophy(HMSN6A) -
233 Leu Val Charcot-Marie-Toothdisease,axonal,2A2A(CMT2A2A) -
744 Glu Met Charcot-Marie-Toothdisease,axonal,2A2A(CMT2A2A) -
216 Phe Ser Charcot-Marie-Toothdisease,axonal,2A2B(CMT2A2B) -
707 Arg Trp Charcot-Marie-Toothdisease,axonal,2A2A(CMT2A2A) -
707 Arg Trp Charcot-Marie-Toothdisease,axonal,2A2B(CMT2A2B) -

Linear motifs

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

Fingerprint

Molecular function

Term Name % Distance from the top of the tree Annotated in MFN2_HUMAN
GO:0000166 nucleotide binding 33.9623 4 yes
GO:0017076 purine nucleotide binding 33.9623 5 yes
GO:0032555 purine ribonucleotide binding 32.0755 4 yes
GO:0043168 anion binding 32.0755 4 yes
GO:0031625 ubiquitin protein ligase binding 28.3019 5 yes
GO:0035639 purine ribonucleoside triphosphate binding 28.3019 4 yes
GO:0044389 ubiquitin-like protein ligase binding 28.3019 4 yes
GO:0030554 adenyl nucleotide binding 24.5283 6 no
GO:0003723 RNA binding 22.6415 4 no
GO:0032559 adenyl ribonucleotide binding 22.6415 5 no
GO:0016462 pyrophosphatase activity 20.7547 5 yes
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides 20.7547 4 yes
GO:0017111 ribonucleoside triphosphate phosphatase activity 20.7547 6 yes
GO:0005525 GTP binding 11.3208 5 yes
GO:0019001 guanyl nucleotide binding 11.3208 6 yes
GO:0032561 guanyl ribonucleotide binding 11.3208 5 yes
GO:0003924 GTPase activity 9.4340 7 yes

Biological process

Term Name % Distance from top the of the tree Annotated in MFN2_HUMAN
GO:0080090 regulation of primary metabolic process 50.9434 4 no
GO:0060255 regulation of macromolecule metabolic process 49.0566 4 no
GO:0048522 positive regulation of cellular process 43.3962 4 yes
GO:0048523 negative regulation of cellular process 43.3962 4 yes
GO:0051246 regulation of protein metabolic process 41.5094 5 no
GO:0006996 organelle organization 39.6226 4 yes
GO:0010646 regulation of cell communication 39.6226 4 yes
GO:0031323 regulation of cellular metabolic process 39.6226 4 no
GO:0009966 regulation of signal transduction 35.8491 4 yes
GO:0022607 cellular component assembly 33.9623 4 no
GO:0009893 positive regulation of metabolic process 30.1887 4 yes
GO:0031399 regulation of protein modification process 30.1887 6 no
GO:0009889 regulation of biosynthetic process 30.1887 4 no
GO:0031326 regulation of cellular biosynthetic process 28.3019 5 no
GO:0051128 regulation of cellular component organization 28.3019 4 no
GO:0008104 protein localization 26.4151 4 yes
GO:0061024 membrane organization 26.4151 4 yes
GO:0009892 negative regulation of metabolic process 26.4151 4 no
GO:0048584 positive regulation of response to stimulus 26.4151 4 no
GO:0006508 proteolysis 26.4151 4 no
GO:0009057 macromolecule catabolic process 26.4151 4 no
GO:0010556 regulation of macromolecule biosynthetic process 26.4151 5 no
GO:0042981 regulation of apoptotic process 24.5283 5 yes
GO:0043067 regulation of programmed cell death 24.5283 4 yes
GO:0010605 negative regulation of macromolecule metabolic process 24.5283 5 no
GO:0031324 negative regulation of cellular metabolic process 24.5283 5 no
GO:0010468 regulation of gene expression 24.5283 6 no
GO:0010604 positive regulation of macromolecule metabolic process 24.5283 5 no
GO:0051247 positive regulation of protein metabolic process 24.5283 6 no
GO:0009894 regulation of catabolic process 22.6415 4 no
GO:0019941 modification-dependent protein catabolic process 22.6415 6 no
GO:0043632 modification-dependent macromolecule catabolic process 22.6415 5 no
GO:0051603 proteolysis involved in protein catabolic process 22.6415 5 no
GO:0009967 positive regulation of signal transduction 22.6415 5 no
GO:0010647 positive regulation of cell communication 22.6415 5 no
GO:0023056 positive regulation of signaling 22.6415 4 no
GO:1902531 regulation of intracellular signal transduction 20.7547 5 yes
GO:0051049 regulation of transport 20.7547 4 no
GO:0060341 regulation of cellular localization 20.7547 4 no
GO:0006511 ubiquitin-dependent protein catabolic process 20.7547 7 no
GO:0033043 regulation of organelle organization 20.7547 5 no
GO:0044087 regulation of cellular component biogenesis 20.7547 4 no
GO:0048585 negative regulation of response to stimulus 18.8679 4 yes
GO:0007005 mitochondrion organization 16.9811 5 yes
GO:0009968 negative regulation of signal transduction 16.9811 5 yes
GO:0010648 negative regulation of cell communication 16.9811 5 yes
GO:0023057 negative regulation of signaling 16.9811 4 yes
GO:0033365 protein localization to organelle 16.9811 5 yes
GO:0051240 positive regulation of multicellular organismal process 15.0943 4 yes
GO:0070585 protein localization to mitochondrion 15.0943 6 yes
GO:0006915 apoptotic process 13.2075 4 yes
GO:0007006 mitochondrial membrane organization 13.2075 5 yes
GO:0042127 regulation of cell population proliferation 13.2075 4 yes
GO:0043065 positive regulation of apoptotic process 11.3208 6 yes
GO:0043068 positive regulation of programmed cell death 11.3208 5 yes
GO:0072594 establishment of protein localization to organelle 11.3208 4 yes
GO:0008285 negative regulation of cell population proliferation 9.4340 5 yes
GO:0048284 organelle fusion 9.4340 5 yes
GO:0072655 establishment of protein localization to mitochondrion 9.4340 5 yes
GO:1902532 negative regulation of intracellular signal transduction 9.4340 6 yes
GO:0006605 protein targeting 7.5472 4 yes
GO:0006986 response to unfolded protein 7.5472 4 yes
GO:0008284 positive regulation of cell population proliferation 7.5472 5 yes
GO:0006626 protein targeting to mitochondrion 5.6604 5 yes
GO:0051056 regulation of small GTPase mediated signal transduction 5.6604 6 yes
GO:0061734 parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization 5.6604 8 yes
GO:0098779 positive regulation of mitophagy in response to mitochondrial depolarization 5.6604 7 yes
GO:0098780 response to mitochondrial depolarisation 5.6604 4 yes
GO:1904923 regulation of autophagy of mitochondrion in response to mitochondrial depolarization 5.6604 5 yes
GO:1904925 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization 5.6604 6 yes
GO:0008053 mitochondrial fusion 3.7736 6 yes
GO:0010660 regulation of muscle cell apoptotic process 3.7736 6 yes
GO:0010661 positive regulation of muscle cell apoptotic process 3.7736 7 yes
GO:0034391 regulation of smooth muscle cell apoptotic process 3.7736 7 yes
GO:0034393 positive regulation of smooth muscle cell apoptotic process 3.7736 8 yes
GO:0034497 protein localization to phagophore assembly site 3.7736 5 yes
GO:0046578 regulation of Ras protein signal transduction 3.7736 7 yes
GO:0046580 negative regulation of Ras protein signal transduction 3.7736 8 yes
GO:0048592 eye morphogenesis 3.7736 5 yes
GO:0048593 camera-type eye morphogenesis 3.7736 6 yes
GO:0048660 regulation of smooth muscle cell proliferation 3.7736 5 yes
GO:0048661 positive regulation of smooth muscle cell proliferation 3.7736 6 yes
GO:0048662 negative regulation of smooth muscle cell proliferation 3.7736 6 yes
GO:0051058 negative regulation of small GTPase mediated signal transduction 3.7736 7 yes
GO:0090596 sensory organ morphogenesis 3.7736 4 yes
GO:0120161 regulation of cold-induced thermogenesis 3.7736 4 yes
GO:0120162 positive regulation of cold-induced thermogenesis 3.7736 5 yes
GO:1904705 regulation of vascular associated smooth muscle cell proliferation 3.7736 6 yes
GO:1904707 positive regulation of vascular associated smooth muscle cell proliferation 3.7736 7 yes
GO:1905459 regulation of vascular associated smooth muscle cell apoptotic process 3.7736 8 yes
GO:1905461 positive regulation of vascular associated smooth muscle cell apoptotic process 3.7736 9 yes

Disease

No data found.

All partners

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
GBRB3_HUMAN [view entry] [view interactions] Low throughput yes no
GBRG2_HUMAN [view entry] [view interactions] Low throughput yes no
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
PRKN_HUMAN [view entry] [view interactions] Low throughput yes yes
PINK1_HUMAN [view interactions] Low throughput no 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
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
RFA1_HUMAN [view interactions] High throughput no yes
RFA2_HUMAN [view interactions] High throughput no yes
SSR3_HUMAN [view interactions] High throughput no yes
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
FADD_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
ZRAN1_HUMAN [view interactions] High throughput no yes
CYFP2_HUMAN [view entry] [view interactions] High throughput yes yes
BIP_HUMAN [view entry] [view interactions] High throughput yes yes
TRI67_HUMAN [view interactions] High throughput no no
PRRT2_HUMAN [view entry] [view interactions] High throughput yes no
TOP3B_HUMAN [view interactions] High throughput no no
CTBP1_HUMAN [view entry] [view interactions] High throughput yes yes
UBE2H_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
CSTP1_HUMAN [view interactions] High throughput no yes
CI072_HUMAN [view entry] [view interactions] High throughput yes 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 entry] [view interactions] High throughput yes 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