TCDB is operated by the Saier Lab Bioinformatics Group
« See all members of the family


1.R.1.1.1
Membrane Contact Site (MCS).  Functions include lipid and ion transport between organelles as well as organelle positioning and division (Wu et al. 2018).
Constituents include:
Seipin, 398 aas and 2 - 4 TMSs, Q96G97;
Protrudin, 411 aas and 4 - 5 TMSs, Q5T4F4
Spastin (SPAST, ADPSP, FSP2, SPG4), 616 aas, 1 N-terminal TMS, Q9UBP0
Vesicle-associated membrane protein-associated protein A, (VAPA, VAP33). 249 aas, 1 C-terninal TMS, a member of TC family 9.B.17), Q9P0L0
Vesicle-associated membane protein associated, VAPB/C (see TC 9.B.17.1.1), 243 aas and 1 C-terminal TMS, O95292.
Dynamin 2 (Dyn2, Dnm2) GTPase, 870 aas, 1 TMS, see TC# 8.A.34.1.4, P50570
Mitofusin 2 (Mfn2, CPRP1) GTPase, 757 aas, 0 - 2 TMSs, (see TC# 1.N.6.1.2), O95140
Acyl-CoA binding domain-containing protein 5, ACBD5, 534 aas, 1 C-terminal TMS, Q5T8D3The heptad repeat domain 1 of Mitofusin has membrane destabilization function in mitochondrial fusion (Daste et al. 2018).

Accession Number:O95140
Protein Name:Mitofusin-2
Length:757
Molecular Weight:86402.00
Species:Homo sapiens (Human) [9606]
Location1 / Topology2 / Orientation3: Mitochondrion outer membrane1 / Multi-pass membrane protein2
Substrate

Cross database links:

Genevestigator: O95140
eggNOG: prNOG10912
HEGENOM: HBG379895
RefSeq: NP_001121132.1    NP_055689.1   
Entrez Gene ID: 9927   
Pfam: PF00350    PF04799   
OMIM: 601152  phenotype
608507  gene
609260  phenotype
KEGG: hsa:9927   

Gene Ontology

GO:0005829 C:cytosol
GO:0016021 C:integral to membrane
GO:0031306 C:intrinsic to mitochondrial outer membrane
GO:0005525 F:GTP binding
GO:0003924 F:GTPase activity
GO:0008053 P:mitochondrial fusion
GO:0007006 P:mitochondrial membrane organization
GO:0051646 P:mitochondrion localization
GO:0046580 P:negative regulation of Ras protein signal t...
GO:0048662 P:negative regulation of smooth muscle cell p...
GO:0006626 P:protein targeting to mitochondrion

References (15)

[1] “Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity.”  Bach D.et.al.   12598526
[2] “Dysregulation of HSG triggers vascular proliferative disorders.”  Chen K.-H.et.al.   15322553
[3] “Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.”  Nagase T.et.al.   9039502
[4] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[5] “The DNA sequence and biological annotation of human chromosome 1.”  Gregory S.G.et.al.   16710414
[6] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[7] “The full-ORF clone resource of the German cDNA consortium.”  Bechtel S.et.al.   17974005
[8] “Control of mitochondrial morphology by a human mitofusin.”  Santel A.et.al.   11181170
[9] “Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.”  Rojo M.et.al.   11950885
[10] “Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis.”  Karbowski M.et.al.   12499352
[11] “Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells.”  Santel A.et.al.   12759376
[12] “Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.”  Zuechner S.et.al.   15064763
[13] “Lysine acetylation targets protein complexes and co-regulates major cellular functions.”  Choudhary C.et.al.   19608861
[14] “Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.”  Kijima K.et.al.   15549395
[15] “Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.”  Zuechner S.et.al.   16437557

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
Window Size: Angle:  
Window Size: Angle:  
FASTA formatted sequence
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