MFN2 mitofusin 2 [Homo sapiens] - Gene

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Summary

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; KIAA0214
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]

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Genomic context

Location :: 1p36.22

Sequence :: Chromosome: 1; NC_000001.10 (12040238..12073572)

See MFN2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

This experiments provided evidence that Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.
Title: Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.
mitochondrial dynamics, particularly those mediated by the mitofusins, play a role in endothelial cell function and viability.
Title: Mitofusins are required for angiogenic function and modulate different signaling pathways in cultured endothelial cells.
This study demonistrated that Novel MFN2 mutation Leu146Phe causes Charcot-Marie-Tooth type 2A2.
Title: Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.
The results of this study confirmed a MFN2 mutation rate of ~15-20% in CMT2.
Title: Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
findings confirm that MFN2 mutations can cause early-onset Charcot-Marie-Tooth disease with apparent recessive inheritance; novel genetic findings include an intragenic MFN2 deletion and nonsense-mediated decay; carrier parents were asymptomatic
Title: Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
Here, we aim to show that mitofusin 2 is a protein crucial not only for peripheral nerve disorders but is a one of the common regulator of cell metabolism. [review]
Title: [Mitofusin 2 as a crucial peripheral nervous system protein and a common regulator of cell metabolism].
Mitofusin 2 regulates STIM1 migration from the Ca2+ store to the plasma membrane in cells with depolarized mitochondria.
Title: Mitofusin 2 regulates STIM1 migration from the Ca2+ store to the plasma membrane in cells with depolarized mitochondria.
We find MFN2 mutations particularly likely to cause severe neuropathy that may be primarily motor or motor accompanied by prominent proprioception loss in Charcot-Marie-Tooth disease type 2A
Title: MFN2 mutations cause severe phenotypes in most patients with CMT2A.
The impact of mutations in endogenous PINK1 and Parkin on the ubiquitination of mitochondrial fusion and fission factors and the mitochondrial network structure, was investigated.
Title: Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts.
The genetic variations of HSG/Mfn2 may be associated with hypertension in male Chinese
Title: HSG/Mfn2 gene polymorphism and essential hypertension: a case-control association study in Chinese.

Submit: New GeneRIF Correction See all (68)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Charcot-Marie-Tooth disease, type 2A2

MIM: 609260

Hereditary motor and sensory neuropathy VI

MIM: 601152

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Products	Interactant	Other Gene	Source	Pubs	Description
O95140	Q9NX47	MARCH5	HPRD	PubMed
BioGRID:115255	BioGRID:111105	PARK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115255	BioGRID:131065	RGAG4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:115255	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
GTP binding	IEA Inferred from Electronic Annotation more info
GTPase activity	IEA Inferred from Electronic Annotation more info
hydrolase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
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
mitochondrial fusion	IEA Inferred from Electronic Annotation 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 to membrane	IEA Inferred from Electronic Annotation more info
intrinsic to mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info
membrane	IEA Inferred from Electronic Annotation 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
mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: mitofusin-2

Names: mitofusin-2; hyperplasia suppressor; transmembrane GTPase MFN2; mitochondrial assembly regulatory factor

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NCBI Reference Sequences (RefSeq)

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

NG_007945.1 RefSeqGene

Range

5001..38335

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001127660.1 → NP_001121132.1 mitofusin-2

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 (3) summary

pfam04799
Location:586 – 756
Blast Score: 707

Fzo_mitofusin; fzo-like conserved region

pfam00350
Location:99 – 258
Blast Score: 265

Dynamin_N; Dynamin family

cd09912
Location:97 – 325
Blast Score: 401

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
NM_014874.3 → NP_055689.1 mitofusin-2

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 (3) summary

pfam04799
Location:586 – 756
Blast Score: 707

Fzo_mitofusin; fzo-like conserved region

pfam00350
Location:99 – 258
Blast Score: 265

Dynamin_N; Dynamin family

cd09912
Location:97 – 325
Blast Score: 401

DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

12040238..12073572

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

11195001..11228266

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL096840.25	CAI19086.1
		CAI19087.2
		CAI19088.2
genomic	AL096840.25	CAI19086.1
		CAI19087.2
		CAI19088.2
genomic	CH471130.1	EAW71726.1
		EAW71727.1
mRNA	AF036536.2	AAD02058.2
mRNA	AI857365.1	None
mRNA	AK001189.1	BAG50864.1
mRNA	AK021947.1	BAG51062.1
mRNA	AK022453.1	BAG51075.1
mRNA	AK289828.1	BAF82517.1
mRNA	AK295890.1	BAH12214.1
mRNA	AL122114.1	None
mRNA	AL137666.1	CAB70866.2
mRNA	AY028429.1	AAK18728.1
mRNA	BC017061.1	AAH17061.1
mRNA	BU178912.1	None
mRNA	D86987.1	BAA34389.2
mRNA	DC401346.1	None
other-genetic	DQ894181.2	ABM85107.1
other-genetic	EU176270.1	ABW03721.1