Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

MFN2 mitofusin 2 [ Homo sapiens (human) ]

Gene ID: 9927, updated on 16-Apr-2014
Official Symbol
MFN2provided by HGNC
Official Full Name
mitofusin 2provided by HGNC
Primary source
HGNC:16877
Locus tag
RP5-1077B9.3
See related
Ensembl:ENSG00000116688; HPRD:08495; MIM:608507; Vega:OTTHUMG00000002392
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSG; MARF; CMT2A; CPRP1; CMT2A2
Summary
This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Location :
1p36.22
Sequence :
Chromosome: 1; NC_000001.11 (11980181..12013515)
See MFN2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene KIAA2013 Neighboring gene procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 Neighboring gene migration and invasion inhibitory protein Neighboring gene microRNA 6729 Neighboring gene tumor necrosis factor receptor superfamily, member 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Vpr, p15 vpr HIV-1 Vpr significantly downregulates expression level of MFN2 in the mitochondria via VprBP-DDB1-CUL4A ubiquitin ligase in a proteasome-dependent manner PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blastocyst formation IEA
Inferred from Electronic Annotation
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
camera-type eye morphogenesis IEA
Inferred from Electronic Annotation
more info
 
NOT cell cycle arrest ISS
Inferred from Sequence or Structural Similarity
more info
 
cell death IEA
Inferred from Electronic Annotation
more info
 
mitochondrial fusion IMP
Inferred from Mutant Phenotype
more info
 
mitochondrial fusion NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial membrane organization IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion localization IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of smooth muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein targeting to mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intrinsic component of mitochondrial outer membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
mitofusin-2
Names
mitofusin-2
hyperplasia suppressor
transmembrane GTPase MFN2
mitochondrial assembly regulatory factor

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007945.1 RefSeqGene

    Range
    5001..38335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_255

mRNA and Protein(s)

  1. NM_001127660.1NP_001121132.1  mitofusin-2

    See proteins identical to NP_001121132.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AI857365, AK289828, AL137666, DC401346
    Consensus CDS
    CCDS30587.1
    UniProtKB/Swiss-Prot
    O95140
    Related
    ENSP00000416338, ENST00000444836
    Conserved Domains (2) summary
    pfam04799
    Location:586756
    Blast Score: 801
    Fzo_mitofusin; fzo-like conserved region
    cd09912
    Location:97349
    Blast Score: 426
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
  2. NM_014874.3NP_055689.1  mitofusin-2

    See proteins identical to NP_055689.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AI857365, AL137666, BC017061, DC401346
    Consensus CDS
    CCDS30587.1
    UniProtKB/Swiss-Prot
    O95140
    Related
    ENSP00000235329, OTTHUMP00000002509, ENST00000235329, OTTHUMT00000006859
    Conserved Domains (2) summary
    pfam04799
    Location:586756
    Blast Score: 801
    Fzo_mitofusin; fzo-like conserved region
    cd09912
    Location:97349
    Blast Score: 426
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11

    Range
    11980181..12013515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263548.1XP_005263605.1  

    See proteins identical to XP_005263605.1

    UniProtKB/Swiss-Prot
    O95140
    Conserved Domains (2) summary
    pfam04799
    Location:586756
    Blast Score: 801
    Fzo_mitofusin; fzo-like conserved region
    cd09912
    Location:97349
    Blast Score: 426
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
  2. XM_005263543.1XP_005263600.1  

    See proteins identical to XP_005263600.1

    UniProtKB/Swiss-Prot
    O95140
    Conserved Domains (2) summary
    pfam04799
    Location:586756
    Blast Score: 801
    Fzo_mitofusin; fzo-like conserved region
    cd09912
    Location:97349
    Blast Score: 426
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
  3. XM_005263545.1XP_005263602.1  

    See proteins identical to XP_005263602.1

    UniProtKB/Swiss-Prot
    O95140
    Conserved Domains (2) summary
    pfam04799
    Location:586756
    Blast Score: 801
    Fzo_mitofusin; fzo-like conserved region
    cd09912
    Location:97349
    Blast Score: 426
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
  4. XM_005263547.1XP_005263604.1  

    See proteins identical to XP_005263604.1

    UniProtKB/Swiss-Prot
    O95140
    Conserved Domains (2) summary
    pfam04799
    Location:586756
    Blast Score: 801
    Fzo_mitofusin; fzo-like conserved region
    cd09912
    Location:97349
    Blast Score: 426
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

Alternate HuRef

Genomic

  1. AC_000133.1 Alternate HuRef

    Range
    11195001..11228266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    12028020..12061326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...