MFN2 mitofusin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFN2provided by HGNC
Official Full Name: mitofusin 2provided by HGNC
Primary source: HGNC:HGNC:16877
See related: Ensembl:ENSG00000116688 MIM:608507; AllianceGenome:HGNC:16877
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; MSL; MARF; CMT2A; CPRP1; CMT2A2; HMSN6A; CMT2A2A; CMT2A2B
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]
Expression: Ubiquitous expression in heart (RPKM 98.6), thyroid (RPKM 37.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (11980444..12013508)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (11524563..11557644)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (12040501..12073565)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Declined circular RNA mitofusin 2 constrains the deterioration of Wilms tumor via modulating microRNA-372-3p/transforming growth factor-beta receptor type 2 axis.
Title: Declined circular RNA mitofusin 2 constrains the deterioration of Wilms tumor via modulating microRNA-372-3p/transforming growth factor-β receptor type 2 axis.
Evaluation of the role of mitofusin-1 and mitofusin-2 in periodontal disease.
Title: Evaluation of the role of mitofusin-1 and mitofusin-2 in periodontal disease.
MTCH2 cooperates with MFN2 and lysophosphatidic acid synthesis to sustain mitochondrial fusion.
Title: MTCH2 cooperates with MFN2 and lysophosphatidic acid synthesis to sustain mitochondrial fusion.
Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation.
Title: Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation.
CMT2A-linked MFN2 mutation, T206I promotes mitochondrial hyperfusion and predisposes cells towards mitophagy.
Title: CMT2A-linked MFN2 mutation, T206I promotes mitochondrial hyperfusion and predisposes cells towards mitophagy.
Role of mitochondrial fusion proteins MFN2 and OPA1 on lung cellular senescence in chronic obstructive pulmonary disease.
Title: Role of mitochondrial fusion proteins MFN2 and OPA1 on lung cellular senescence in chronic obstructive pulmonary disease.
Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.
Title: Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.
DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress.
Title: DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress.
A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Title: A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Mitochondria-ER contact mediated by MFN2-SERCA2 interaction supports CD8[+] T cell metabolic fitness and function in tumors.
Title: Mitochondria-ER contact mediated by MFN2-SERCA2 interaction supports CD8(+) T cell metabolic fitness and function in tumors.

Submit: New GeneRIF Correction See all GeneRIFs (237)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease type 2A2 MedGen: C4721887 OMIM: 609260 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview, MFN2 Hereditary Motor and Sensory Neuropathy	Compare labs
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; MedGen: C4310725 OMIM: 617087 GeneReviews: MFN2 Hereditary Motor and Sensory Neuropathy	Compare labs
Multiple symmetric lipomatosis MedGen: C0023804 OMIM: 151800 GeneReviews: Not available	not available
Neuropathy, hereditary motor and sensory, type 6A MedGen: CN305336 OMIM: 601152 GeneReviews: MFN2 Hereditary Motor and Sensory Neuropathy	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2017-02-02) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2017-02-02) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	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 Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G19936 (e-PCR)
- UniSTS:17435

A002C35 (e-PCR)
- UniSTS:17436

SHGC-127 (e-PCR)
- UniSTS:27477

RH12722 (e-PCR)
- UniSTS:47502

D1S1753E (e-PCR)
- UniSTS:150428

D1S489 (e-PCR), detects polymorphism
- UniSTS:13238

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in blastocyst formation	IEA Inferred from Electronic Annotation more info
involved_in camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial fusion	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial membrane organization	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrion localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion localization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of Ras protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of smooth muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to phagophore assembly site	IDA Inferred from Direct Assay more info	PubMed
involved_in protein targeting to mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in response to unfolded protein	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitofusin-2

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

NCBI Reference Sequences (RefSeq)

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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), LRG_255

mRNA and Protein(s)

NM_001127660.2 → NP_001121132.1 mitofusin-2

See identical proteins and their annotated locations for 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

Consensus CDS

CCDS30587.1

UniProtKB/Swiss-Prot

A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8

UniProtKB/TrEMBL

A0A6Q8PGV8

Related

ENSP00000502151.1, ENST00000674817.1

Conserved Domains (2) summary

cd09912
Location:97 → 349

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

pfam04799
Location:595 → 754

Fzo_mitofusin; fzo-like conserved region
NM_014874.4 → NP_055689.1 mitofusin-2

See identical proteins and their annotated locations for 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

A8K1B3, O95140, O95572, Q5JXC3, Q5JXC4, Q9H131, Q9NSX8

UniProtKB/TrEMBL

A0A6Q8PGV8

Related

ENSP00000235329.5, ENST00000235329.10

Conserved Domains (2) summary

cd09912
Location:97 → 349

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

pfam04799
Location:595 → 754

Fzo_mitofusin; fzo-like conserved region