Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 175 (16 Oct 2019)
Sequence version 3 (24 May 2004)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Mitofusin-2

Gene

MFN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). 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 (By similarity). Plays an important role in the regulation of vascular smooth muscle cell proliferation (By similarity). Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) (PubMed:23620051). Is required for PRKN recruitment to dysfunctional mitochondria (PubMed:23620051). Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress (By similarity). Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions (By similarity).By similarityCurated5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei305GTPBy similarity1
Binding sitei307GTPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi106 – 111GTPBy similarity6
Nucleotide bindingi258 – 261GTPBy similarity4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processApoptosis, Autophagy, Unfolded protein response
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5205685 Pink/Parkin Mediated Mitophagy
R-HSA-983231 Factors involved in megakaryocyte development and platelet production

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O95140

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.N.6.1.2 the mitochondrial inner/outer membrane fusion (mmf) family
1.R.1.1.1 the membrane contact site (mcs) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mitofusin-2 (EC:3.6.5.-)
Alternative name(s):
Transmembrane GTPase MFN2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MFN2
Synonyms:CPRP1, KIAA0214
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16877 MFN2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608507 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95140

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 604CytoplasmicSequence analysisAdd BLAST604
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei605 – 625Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini626Mitochondrial intermembraneSequence analysis1
Transmembranei627 – 647Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini648 – 757CytoplasmicSequence analysisAdd BLAST110

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Charcot-Marie-Tooth disease 2A2B (CMT2A2B)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2A2B is a severe form with autosomal recessive inheritance.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07689538Missing in CMT2A2B. 1 Publication1
Natural variantiVAR_080339164A → V in CMT2A2B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553142699EnsemblClinVar.1
Natural variantiVAR_080340214D → N in CMT2A2B; unknown pathological significance. 1 Publication1
Natural variantiVAR_076896216F → S in CMT2A2B. 1 PublicationCorresponds to variant dbSNP:rs387906990EnsemblClinVar.1
Natural variantiVAR_076897362T → M in CMT2A2B; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs387906991EnsemblClinVar.1
Natural variantiVAR_080341390C → R in CMT2A2B; unknown pathological significance. 1 Publication1
Natural variantiVAR_078443707R → W in CMT2A2A and CMT2A2B; decreased function in mitochondrial fusion; reduced homo-oligomerization; no effect on hetero-oligomerization with MFN1. 3 PublicationsCorresponds to variant dbSNP:rs119103267EnsemblClinVar.1
Charcot-Marie-Tooth disease 2A2A (CMT2A2A)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01860769V → F in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs28940296EnsemblClinVar.1
Natural variantiVAR_01860876L → P in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs28940293EnsemblClinVar.1
Natural variantiVAR_01860994R → Q in CMT2A2A, CMT2A2B and HMSN6A. 3 PublicationsCorresponds to variant dbSNP:rs28940291EnsemblClinVar.1
Natural variantiVAR_078437127G → V in CMT2A2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_067088233L → V in CMT2A2A. 1 Publication1
Natural variantiVAR_018610251P → A in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs28940295EnsemblClinVar.1
Natural variantiVAR_018611280R → H in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs28940294EnsemblClinVar.1
Natural variantiVAR_078438347E → V in CMT2A2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_022464357K → N in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs119103261EnsemblClinVar.1
Natural variantiVAR_029880364R → W in HMSN6A and CMT2A2A. 2 PublicationsCorresponds to variant dbSNP:rs119103265EnsemblClinVar.1
Natural variantiVAR_078439376M → I in CMT2A2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553144059EnsemblClinVar.1
Natural variantiVAR_078440468R → H in CMT2A2A; also found in patients with an unclassified form of Charcot-Marie-Tooth disease; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs138382758EnsemblClinVar.1
Natural variantiVAR_078443707R → W in CMT2A2A and CMT2A2B; decreased function in mitochondrial fusion; reduced homo-oligomerization; no effect on hetero-oligomerization with MFN1. 3 PublicationsCorresponds to variant dbSNP:rs119103267EnsemblClinVar.1
Natural variantiVAR_018612740W → S in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs28940292EnsemblClinVar.1
Natural variantiVAR_067089744E → M in CMT2A2A; requires 2 nucleotide substitutions. 1 Publication1
Neuropathy, hereditary motor and sensory, 6A (HMSN6A)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurologic disorder characterized by optic atrophy and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01860994R → Q in CMT2A2A, CMT2A2B and HMSN6A. 3 PublicationsCorresponds to variant dbSNP:rs28940291EnsemblClinVar.1
Natural variantiVAR_02987694R → W in HMSN6A; severely reduced homo-oligomerization; no effect on hetero-oligomerization with MFN1. 3 PublicationsCorresponds to variant dbSNP:rs119103263EnsemblClinVar.1
Natural variantiVAR_029877206T → I in HMSN6A. 1 PublicationCorresponds to variant dbSNP:rs119103266EnsemblClinVar.1
Natural variantiVAR_029878276Q → R in HMSN6A. 1 PublicationCorresponds to variant dbSNP:rs119103264EnsemblClinVar.1
Natural variantiVAR_029879361H → Y in HMSN6A. 1 Publication1
Natural variantiVAR_029880364R → W in HMSN6A and CMT2A2A. 2 PublicationsCorresponds to variant dbSNP:rs119103265EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi109K → A or T: Does not affect its ability to cluster mitochondria; when overexpressed. 2 Publications1
Mutagenesisi110S → N: Does not affect its ability to cluster mitochondria; when overexpressed. 1 Publication1
Mutagenesisi111T → A: Diminishes interaction with PRKN in presence of PINK1. Abolishes phosphorylation by PINK1 and interaction with PRKN in presence of PINK1; when associated with ALA-442. 1 Publication1
Mutagenesisi111T → E: Interacts with PRKN in absence of PINK1; when associated with GLU-442. 1 Publication1
Mutagenesisi128H → A: Loss of function in promoting mitochondrial fusion. 1 Publication1
Mutagenesisi230E → A: Loss of function in promoting mitochondrial fusion. 1 Publication1
Mutagenesisi259R → A: Loss of function in promoting mitochondrial fusion. 1 Publication1
Mutagenesisi259R → L: Does not affect its ability to cluster mitochondria; when overexpressed. 1 Publication1
Mutagenesisi260W → A: Loss of function in promoting mitochondrial fusion. 1 Publication1
Mutagenesisi266E → A: Loss of function in promoting mitochondrial fusion. 1 Publication1
Mutagenesisi442S → A: Diminishes interaction with PRKN in presence of PINK1. Abolishes phosphorylation by PINK1 and interaction with PRKN in presence of PINK1; when associated with ALA-111. 1 Publication1
Mutagenesisi442S → E: Interacts with PRKN in absence of PINK1; when associated with GLU-111. 1 Publication1
Mutagenesisi622 – 624GGV → AAL: Does not affect the targeting to mitochondrial outer membrane. 1 Publication3
Mutagenesisi622 – 624GGV → RRE: Abolishes the targeting to mitochondrial outer membrane. 1 Publication3
Mutagenesisi657 – 659KER → TGV: Does not affect the targeting to mitochondrial outer membrane. 1 Publication3

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
9927

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
MFN2

MalaCards human disease database

More...
MalaCardsi
MFN2
MIMi601152 phenotype
609260 phenotype
617087 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000116688

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2
64751 Hereditary motor and sensory neuropathy type 5
90120 Hereditary motor and sensory neuropathy type 6
2398 Multiple symmetric lipomatosis
90118 Severe early-onset axonal neuropathy due to MFN2 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134986046

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O95140

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MFN2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001276751 – 757Mitofusin-2Add BLAST757

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei111Phosphothreonine; by PINK11 Publication1
Modified residuei442Phosphoserine; by PINK11 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by PINK1.1 Publication
Ubiquitinated by non-degradative ubiquitin by PRKN, promoting mitochondrial fusion; deubiquitination by USP30 inhibits mitochondrial fusion.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O95140

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O95140

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O95140

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O95140

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O95140

PeptideAtlas

More...
PeptideAtlasi
O95140

PRoteomics IDEntifications database

More...
PRIDEi
O95140

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
50659 [O95140-1]
50660 [O95140-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95140

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O95140

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O95140

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous; expressed at low level. Highly expressed in heart and kidney.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000116688 Expressed in 236 organ(s), highest expression level in heart left ventricle

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O95140 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O95140 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA030554

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms homomultimers and heteromultimers with MFN1 (PubMed:26085578). Oligomerization is essential for mitochondrion fusion (Probable).

Interacts with VAT1 (By similarity).

Interacts with STOML2; may form heterooligomers (PubMed:17121834).

Interacts (phosphorylated) with PRKN (PubMed:23620051).

Interacts with EIF2AK3 (By similarity).

By similarityCurated3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115255, 24 interactors

Database of interacting proteins

More...
DIPi
DIP-42832N

Protein interaction database and analysis system

More...
IntActi
O95140, 14 interactors

Molecular INTeraction database

More...
MINTi
O95140

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000235329

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O95140

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini93 – 342Dynamin-type GPROSITE-ProRule annotationAdd BLAST250

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni30 – 94Part of a helix bundle domain, formed by helices from N-terminal and C-terminal regionsBy similarityAdd BLAST65
Regioni103 – 110G1 motifPROSITE-ProRule annotation8
Regioni129 – 130G2 motifPROSITE-ProRule annotation2
Regioni199 – 202G3 motifPROSITE-ProRule annotation4
Regioni258 – 261G4 motifPROSITE-ProRule annotation4
Regioni288G5 motifPROSITE-ProRule annotation1
Regioni359 – 385Part of a helix bundle domain, formed by helices from N-terminal and C-terminal regionsBy similarityAdd BLAST27
Regioni722 – 753Part of a helix bundle domain, formed by helices from N-terminal and C-terminal regionsBy similarityAdd BLAST32

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili391 – 434Sequence analysisAdd BLAST44
Coiled coili695 – 738Sequence analysisAdd BLAST44

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

A helix bundle is formed by helices from the N-terminal and the C-terminal part of the protein. The GTPase domain cannot be expressed by itself, without the helix bundle. Rearrangement of the helix bundle and/or of the coiled coil domains may bring membranes from adjacent mitochondria into close contact, and thereby play a role in mitochondrial fusion.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0448 Eukaryota
COG0699 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013727

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231098

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O95140

KEGG Orthology (KO)

More...
KOi
K06030

Identification of Orthologs from Complete Genome Data

More...
OMAi
GIMLKTI

Database of Orthologous Groups

More...
OrthoDBi
1076876at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95140

TreeFam database of animal gene trees

More...
TreeFami
TF314289

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR022812 Dynamin_SF
IPR006884 Fzo/mitofusin_HR2
IPR030381 G_DYNAMIN_dom
IPR027089 Mitofusin-2
IPR027094 Mitofusin_fam
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...
PANTHERi
PTHR10465 PTHR10465, 1 hit
PTHR10465:SF1 PTHR10465:SF1, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00350 Dynamin_N, 1 hit
PF04799 Fzo_mitofusin, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51718 G_DYNAMIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O95140-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSLLFSRCNS IVTVKKNKRH MAEVNASPLK HFVTAKKKIN GIFEQLGAYI
60 70 80 90 100
QESATFLEDT YRNAELDPVT TEEQVLDVKG YLSKVRGISE VLARRHMKVA
110 120 130 140 150
FFGRTSNGKS TVINAMLWDK VLPSGIGHTT NCFLRVEGTD GHEAFLLTEG
160 170 180 190 200
SEEKRSAKTV NQLAHALHQD KQLHAGSLVS VMWPNSKCPL LKDDLVLMDS
210 220 230 240 250
PGIDVTTELD SWIDKFCLDA DVFVLVANSE STLMQTEKHF FHKVSERLSR
260 270 280 290 300
PNIFILNNRW DASASEPEYM EEVRRQHMER CTSFLVDELG VVDRSQAGDR
310 320 330 340 350
IFFVSAKEVL NARIQKAQGM PEGGGALAEG FQVRMFEFQN FERRFEECIS
360 370 380 390 400
QSAVKTKFEQ HTVRAKQIAE AVRLIMDSLH MAAREQQVYC EEMREERQDR
410 420 430 440 450
LKFIDKQLEL LAQDYKLRIK QITEEVERQV STAMAEEIRR LSVLVDDYQM
460 470 480 490 500
DFHPSPVVLK VYKNELHRHI EEGLGRNMSD RCSTAITNSL QTMQQDMIDG
510 520 530 540 550
LKPLLPVSVR SQIDMLVPRQ CFSLNYDLNC DKLCADFQED IEFHFSLGWT
560 570 580 590 600
MLVNRFLGPK NSRRALMGYN DQVQRPIPLT PANPSMPPLP QGSLTQEEFM
610 620 630 640 650
VSMVTGLASL TSRTSMGILV VGGVVWKAVG WRLIALSFGL YGLLYVYERL
660 670 680 690 700
TWTTKAKERA FKRQFVEHAS EKLQLVISYT GSNCSHQVQQ ELSGTFAHLC
710 720 730 740 750
QQVDVTRENL EQEIAAMNKK IEVLDSLQSK AKLLRNKAGW LDSELNMFTH

QYLQPSR
Length:757
Mass (Da):86,402
Last modified:May 24, 2004 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6F859D740152DFAD
GO
Isoform 2 (identifier: O95140-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-302: Missing.
     303-324: FVSAKEVLNARIQKAQGMPEGG → MHPHLSTLSLPRRRSMAFLSSW
     705-757: VTRENLEQEI...FTHQYLQPSR → GETLSERSMAKSTLMLLTLLFLCSFAGAQDVLTQ

Note: No experimental confirmation available.
Show »
Length:436
Mass (Da):50,041
Checksum:iB3DA00C339C353C8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JXC5Q5JXC5_HUMAN
Mitofusin-2
MFN2
98Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA34389 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence CAB70866 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti521C → P in AAD02058 (PubMed:15322553).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07689538Missing in CMT2A2B. 1 Publication1
Natural variantiVAR_01860769V → F in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs28940296EnsemblClinVar.1
Natural variantiVAR_01860876L → P in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs28940293EnsemblClinVar.1
Natural variantiVAR_01860994R → Q in CMT2A2A, CMT2A2B and HMSN6A. 3 PublicationsCorresponds to variant dbSNP:rs28940291EnsemblClinVar.1
Natural variantiVAR_02987694R → W in HMSN6A; severely reduced homo-oligomerization; no effect on hetero-oligomerization with MFN1. 3 PublicationsCorresponds to variant dbSNP:rs119103263EnsemblClinVar.1
Natural variantiVAR_078437127G → V in CMT2A2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_080339164A → V in CMT2A2B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553142699EnsemblClinVar.1
Natural variantiVAR_029877206T → I in HMSN6A. 1 PublicationCorresponds to variant dbSNP:rs119103266EnsemblClinVar.1
Natural variantiVAR_080340214D → N in CMT2A2B; unknown pathological significance. 1 Publication1
Natural variantiVAR_076896216F → S in CMT2A2B. 1 PublicationCorresponds to variant dbSNP:rs387906990EnsemblClinVar.1
Natural variantiVAR_067088233L → V in CMT2A2A. 1 Publication1
Natural variantiVAR_018610251P → A in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs28940295EnsemblClinVar.1
Natural variantiVAR_073291259R → H Found in a patient with hereditary motor and sensory neuropathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs755065651Ensembl.1
Natural variantiVAR_029878276Q → R in HMSN6A. 1 PublicationCorresponds to variant dbSNP:rs119103264EnsemblClinVar.1
Natural variantiVAR_018611280R → H in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs28940294EnsemblClinVar.1
Natural variantiVAR_078438347E → V in CMT2A2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_022464357K → N in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs119103261EnsemblClinVar.1
Natural variantiVAR_029879361H → Y in HMSN6A. 1 Publication1
Natural variantiVAR_076897362T → M in CMT2A2B; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs387906991EnsemblClinVar.1
Natural variantiVAR_029880364R → W in HMSN6A and CMT2A2A. 2 PublicationsCorresponds to variant dbSNP:rs119103265EnsemblClinVar.1
Natural variantiVAR_078439376M → I in CMT2A2A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553144059EnsemblClinVar.1
Natural variantiVAR_080341390C → R in CMT2A2B; unknown pathological significance. 1 Publication1
Natural variantiVAR_078440468R → H in CMT2A2A; also found in patients with an unclassified form of Charcot-Marie-Tooth disease; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs138382758EnsemblClinVar.1
Natural variantiVAR_078441570N → S Found in a patient with hereditary motor neuropathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376925978Ensembl.1
Natural variantiVAR_078442705V → I3 PublicationsCorresponds to variant dbSNP:rs142271930EnsemblClinVar.1
Natural variantiVAR_078443707R → W in CMT2A2A and CMT2A2B; decreased function in mitochondrial fusion; reduced homo-oligomerization; no effect on hetero-oligomerization with MFN1. 3 PublicationsCorresponds to variant dbSNP:rs119103267EnsemblClinVar.1
Natural variantiVAR_078444716A → T Found in a patient with intermediate Charcot-Marie-Tooth disease; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144860227EnsemblClinVar.1
Natural variantiVAR_018612740W → S in CMT2A2A. 1 PublicationCorresponds to variant dbSNP:rs28940292EnsemblClinVar.1
Natural variantiVAR_067089744E → M in CMT2A2A; requires 2 nucleotide substitutions. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0151591 – 302Missing in isoform 2. CuratedAdd BLAST302
Alternative sequenceiVSP_015160303 – 324FVSAK…MPEGG → MHPHLSTLSLPRRRSMAFLS SW in isoform 2. CuratedAdd BLAST22
Alternative sequenceiVSP_015161705 – 757VTREN…LQPSR → GETLSERSMAKSTLMLLTLL FLCSFAGAQDVLTQ in isoform 2. CuratedAdd BLAST53

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY028429 mRNA Translation: AAK18728.1
AF036536 mRNA Translation: AAD02058.2
D86987 mRNA Translation: BAA34389.2 Different initiation.
AK289828 mRNA Translation: BAF82517.1
AL096840 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71726.1
BC017061 mRNA Translation: AAH17061.1
AL137666 mRNA Translation: CAB70866.2 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30587.1 [O95140-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T46498

NCBI Reference Sequences

More...
RefSeqi
NP_001121132.1, NM_001127660.1 [O95140-1]
NP_055689.1, NM_014874.3 [O95140-1]
XP_005263600.1, XM_005263543.3 [O95140-1]
XP_005263602.1, XM_005263545.3 [O95140-1]
XP_005263604.1, XM_005263547.3 [O95140-1]
XP_005263605.1, XM_005263548.3 [O95140-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000235329; ENSP00000235329; ENSG00000116688 [O95140-1]
ENST00000444836; ENSP00000416338; ENSG00000116688 [O95140-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9927

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9927

UCSC genome browser

More...
UCSCi
uc001atn.5 human [O95140-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY028429 mRNA Translation: AAK18728.1
AF036536 mRNA Translation: AAD02058.2
D86987 mRNA Translation: BAA34389.2 Different initiation.
AK289828 mRNA Translation: BAF82517.1
AL096840 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71726.1
BC017061 mRNA Translation: AAH17061.1
AL137666 mRNA Translation: CAB70866.2 Frameshift.
CCDSiCCDS30587.1 [O95140-1]
PIRiT46498
RefSeqiNP_001121132.1, NM_001127660.1 [O95140-1]
NP_055689.1, NM_014874.3 [O95140-1]
XP_005263600.1, XM_005263543.3 [O95140-1]
XP_005263602.1, XM_005263545.3 [O95140-1]
XP_005263604.1, XM_005263547.3 [O95140-1]
XP_005263605.1, XM_005263548.3 [O95140-1]

3D structure databases

SMRiO95140
ModBaseiSearch...

Protein-protein interaction databases

BioGridi115255, 24 interactors
DIPiDIP-42832N
IntActiO95140, 14 interactors
MINTiO95140
STRINGi9606.ENSP00000235329

Protein family/group databases

TCDBi1.N.6.1.2 the mitochondrial inner/outer membrane fusion (mmf) family
1.R.1.1.1 the membrane contact site (mcs) family

PTM databases

iPTMnetiO95140
PhosphoSitePlusiO95140
SwissPalmiO95140

Polymorphism and mutation databases

BioMutaiMFN2

Proteomic databases

EPDiO95140
jPOSTiO95140
MassIVEiO95140
MaxQBiO95140
PaxDbiO95140
PeptideAtlasiO95140
PRIDEiO95140
ProteomicsDBi50659 [O95140-1]
50660 [O95140-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9927

Genome annotation databases

EnsembliENST00000235329; ENSP00000235329; ENSG00000116688 [O95140-1]
ENST00000444836; ENSP00000416338; ENSG00000116688 [O95140-1]
GeneIDi9927
KEGGihsa:9927
UCSCiuc001atn.5 human [O95140-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9927
DisGeNETi9927

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MFN2
GeneReviewsiMFN2
HGNCiHGNC:16877 MFN2
HPAiHPA030554
MalaCardsiMFN2
MIMi601152 phenotype
608507 gene
609260 phenotype
617087 phenotype
neXtProtiNX_O95140
OpenTargetsiENSG00000116688
Orphaneti99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2
64751 Hereditary motor and sensory neuropathy type 5
90120 Hereditary motor and sensory neuropathy type 6
2398 Multiple symmetric lipomatosis
90118 Severe early-onset axonal neuropathy due to MFN2 deficiency
PharmGKBiPA134986046

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0448 Eukaryota
COG0699 LUCA
GeneTreeiENSGT00390000013727
HOGENOMiHOG000231098
InParanoidiO95140
KOiK06030
OMAiGIMLKTI
OrthoDBi1076876at2759
PhylomeDBiO95140
TreeFamiTF314289

Enzyme and pathway databases

ReactomeiR-HSA-5205685 Pink/Parkin Mediated Mitophagy
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SIGNORiO95140

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MFN2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MFN2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9927
PharosiO95140

Protein Ontology

More...
PROi
PR:O95140

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000116688 Expressed in 236 organ(s), highest expression level in heart left ventricle
ExpressionAtlasiO95140 baseline and differential
GenevisibleiO95140 HS

Family and domain databases

InterProiView protein in InterPro
IPR022812 Dynamin_SF
IPR006884 Fzo/mitofusin_HR2
IPR030381 G_DYNAMIN_dom
IPR027089 Mitofusin-2
IPR027094 Mitofusin_fam
IPR027417 P-loop_NTPase
PANTHERiPTHR10465 PTHR10465, 1 hit
PTHR10465:SF1 PTHR10465:SF1, 1 hit
PfamiView protein in Pfam
PF00350 Dynamin_N, 1 hit
PF04799 Fzo_mitofusin, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51718 G_DYNAMIN_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMFN2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95140
Secondary accession number(s): A8K1B3
, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: October 16, 2019
This is version 175 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again