Nf2 neurofibromin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nf2provided by MGI
Official Full Name: neurofibromin 2provided by MGI
Primary source: MGI:MGI:97307
See related: Ensembl:ENSMUSG00000009073 AllianceGenome:MGI:97307
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: merlin
Summary: Predicted to enable beta-catenin binding activity; integrin binding activity; and protein domain specific binding activity. Involved in lens fiber cell differentiation. Acts upstream of or within several processes, including negative regulation of MAPK cascade; negative regulation of protein kinase activity; and nervous system development. Located in several cellular components, including adherens junction; cleavage furrow; and ruffle. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study familial meningioma; neurofibromatosis; otitis media; and renal cell carcinoma. Human ortholog(s) of this gene implicated in familial meningioma; neurilemmomatosis; and neurofibromatosis 2. Orthologous to human NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 31.2), testis adult (RPKM 20.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A1; 11 3.0 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (4715845..4799544, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (4757639..4849544, complement)

Chromosome 11 - NC_000077.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Merlin/NF2 regulates SLC7A11/xCT expression and cell viability under glucose deprivation at high cell density in glioblastoma cells.
Title: Merlin/NF2 regulates SLC7A11/xCT expression and cell viability under glucose deprivation at high cell density in glioblastoma cells.
Proteasomal pathway inhibition as a potential therapy for NF2-associated meningioma and schwannoma.
Title: Proteasomal pathway inhibition as a potential therapy for NF2-associated meningioma and schwannoma.
Merlin deficiency alters the redox management program in breast cancer.
Title: Merlin deficiency alters the redox management program in breast cancer.
PLPP/CIN-mediated NF2-serine 10 dephosphorylation regulates F-actin stability and Mdm2 degradation in an activity-dependent manner.
Title: PLPP/CIN-mediated NF2-serine 10 dephosphorylation regulates F-actin stability and Mdm2 degradation in an activity-dependent manner.
Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.
Title: Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.
Schwannoma development is mediated by Hippo pathway dysregulation and modified by RAS/MAPK signaling.
Title: Schwannoma development is mediated by Hippo pathway dysregulation and modified by RAS/MAPK signaling.
Cluster of differentiation 44 promotes osteosarcoma progression in mice lacking the tumor suppressor Merlin.
Title: Cluster of differentiation 44 promotes osteosarcoma progression in mice lacking the tumor suppressor Merlin.
Combined deletion of Bap1, Nf2, and Cdkn2ab causes rapid onset of malignant mesothelioma in mice.
Title: Combined deletion of Bap1, Nf2, and Cdkn2ab causes rapid onset of malignant mesothelioma in mice.
identified a previously unreported Merlin-binding protein, apoptosis-stimulated p53 protein 2 (ASPP2, also called Tp53bp2), that bound to closed-conformation Merlin predominately through the FERM domain.
Title: Proximity biotinylation identifies a set of conformation-specific interactions between Merlin and cell junction proteins.
NF2 role in the development of pleural malignant mesothelioma.
Title: Inactivation of Bap1 Cooperates with Losses of Nf2 and Cdkn2a to Drive the Development of Pleural Malignant Mesothelioma in Conditional Mouse Models.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (8) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94846 (e-PCR)
- UniSTS:120092

43.MMHAP85FLG4.seq (e-PCR)
- UniSTS:124514

Nf2 (e-PCR), detects polymorphism
- UniSTS:144001

NoName (e-PCR)
- UniSTS:548527

D11Mcg1 (e-PCR), detects polymorphism
- UniSTS:141760

Nf2 (e-PCR), detects polymorphism
- UniSTS:507086

GDB:342145 (e-PCR)
- UniSTS:156635

GDB:373359 (e-PCR)
- UniSTS:156900

GDB:373416 (e-PCR)
- UniSTS:156907

GDB:373421 (e-PCR)
- UniSTS:156908

GDB:373656 (e-PCR)
- UniSTS:156918

Nf2 (e-PCR), detects polymorphism
- UniSTS:267005

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables cytoskeletal protein binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables integrin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of Schwann cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Schwann cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell-cell junction organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ectoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hippocampus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens fiber cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of Schwann cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell-cell adhesion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of osteoblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of receptor signaling pathway via JAK-STAT	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of tyrosine phosphorylation of STAT protein	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of osteoblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of early endosome to late endosome transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein localization to early endosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of gliogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of gliogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of hippo signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of hippo signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of neural precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of organelle assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in apical part of cell	IBA Inferred from Biological aspect of Ancestor more info
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in cell body	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cleavage furrow	IDA Inferred from Direct Assay more info	PubMed
located_in cortical actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
is_active_in filopodium	IBA Inferred from Biological aspect of Ancestor more info
located_in filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: merlin

Names: moesin-ezrin-radixin-like protein; neurofibromatosis 2; schwannomin

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.

mRNA and Protein(s)

NM_001252250.1 → NP_001239179.1 merlin isoform 1

See identical proteins and their annotated locations for NP_001239179.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 2 encode the same isoform 1.

Source sequence(s)

AK045998, AL606521, AL645603, BX638106, L27105

Consensus CDS

CCDS56757.1

UniProtKB/TrEMBL

Q9D3K3

Related

ENSMUSP00000055061.7, ENSMUST00000056290.13

Conserved Domains (4) summary

PLN03086
Location:307 → 367

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 222

B41; Band 4.1 homologues

cd13194
Location:216 → 312

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 580

ERM; Ezrin/radixin/moesin family
NM_001252251.1 → NP_001239180.1 merlin isoform 1

See identical proteins and their annotated locations for NP_001239180.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform 1.

Source sequence(s)

AK045998, AL645603

Consensus CDS

CCDS56757.1

UniProtKB/TrEMBL

Q9D3K3

Related

ENSMUSP00000055033.7, ENSMUST00000053079.13

Conserved Domains (4) summary

PLN03086
Location:307 → 367

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 222

B41; Band 4.1 homologues

cd13194
Location:216 → 312

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 580

ERM; Ezrin/radixin/moesin family
NM_001252252.1 → NP_001239181.1 merlin isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an exon but has an alternate segment in the 3' coding region, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK045998, AL606521, AL645603, BX638106

UniProtKB/TrEMBL

Q9D3K3

Conserved Domains (5) summary

smart00295
Location:23 → 222

B41; Band 4.1 homologues

cd13194
Location:216 → 312

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00373
Location:107 → 222

FERM_M; FERM central domain

pfam00769
Location:347 → 581

ERM; Ezrin/radixin/moesin family

pfam09379
Location:26 → 87

FERM_N; FERM N-terminal domain
NM_001252253.1 → NP_001239182.1 merlin isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, 3' UTR, and coding region, compared to variant 1. The resulting isoform (4) is shorter at the N-terminus and has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK017343, AK045998

UniProtKB/TrEMBL

Q9D3K3

Related

ENSMUST00000109908.8

Conserved Domains (5) summary

smart00295
Location:1 → 184

B41; Band 4.1 homologues

cd13194
Location:178 → 274

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00373
Location:69 → 184

FERM_M; FERM central domain

pfam00769
Location:309 → 543

ERM; Ezrin/radixin/moesin family

pfam09379
Location:1 → 49

FERM_N; FERM N-terminal domain
NM_001361675.1 → NP_001348604.1 merlin isoform 5

Status: VALIDATED

Source sequence(s)

AK017343, AK045998, AK167685, AL606521, AL645603, CB519415, CD561250, CK346889, CN526793

UniProtKB/TrEMBL

Q9D3K3

Conserved Domains (4) summary

smart00295
Location:23 → 181

B41; Band 4.1 homologues

cd13194
Location:175 → 271

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:306 → 555

ERM; Ezrin/radixin/moesin family

cl27293
Location:266 → 326

UFD1; Ubiquitin fusion degradation protein UFD1
NM_001361676.1 → NP_001348605.1 merlin isoform 6

Status: VALIDATED

Source sequence(s)

AK017343, AK045998, AK167685, AL606521, AL645603, BM951158, CB519415, CD561250, CK346889, CN526793

UniProtKB/TrEMBL

Q9D3K3

Conserved Domains (4) summary

smart00295
Location:23 → 181

B41; Band 4.1 homologues

cd13194
Location:175 → 271

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:306 → 539

ERM; Ezrin/radixin/moesin family

cl27293
Location:266 → 326

UFD1; Ubiquitin fusion degradation protein UFD1
NM_001361677.1 → NP_001348606.1 merlin isoform 7

Status: VALIDATED

Source sequence(s)

AK017343, AK045998, AK167685, AL606521, AL645603, BM951158, CB519415, CD561250, CK346889, CN526793

UniProtKB/TrEMBL

Q9D3K3

Conserved Domains (4) summary

smart00295
Location:23 → 222

B41; Band 4.1 homologues

pfam00769
Location:302 → 535

ERM; Ezrin/radixin/moesin family

cl17171
Location:216 → 267

PH-like; Pleckstrin homology-like domain

cl27293
Location:262 → 322

UFD1; Ubiquitin fusion degradation protein UFD1
NM_010898.4 → NP_035028.2 merlin isoform 2

See identical proteins and their annotated locations for NP_035028.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an internal exon in the 3' region, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK167685, AL606521, AL645603, BX638106, L27090

Consensus CDS

CCDS24391.1

UniProtKB/Swiss-Prot

P46662, Q8BR03

UniProtKB/TrEMBL

Q9D3K3

Related

ENSMUSP00000105536.3, ENSMUST00000109910.9

Conserved Domains (5) summary

smart00295
Location:23 → 222

B41; Band 4.1 homologues

cd13194
Location:216 → 312

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00373
Location:107 → 222

FERM_M; FERM central domain

pfam00769
Location:347 → 596

ERM; Ezrin/radixin/moesin family

pfam09379
Location:26 → 87

FERM_N; FERM N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

4715845..4799544 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011243669.3 → XP_011241971.1 merlin isoform X1

See identical proteins and their annotated locations for XP_011241971.1

UniProtKB/TrEMBL

Q9D3K3

Conserved Domains (4) summary

PLN03086
Location:307 → 367

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 222

B41; Band 4.1 homologues

cd13194
Location:216 → 312

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 580

ERM; Ezrin/radixin/moesin family
XM_036156401.1 → XP_036012294.1 merlin isoform X3

UniProtKB/TrEMBL

Q9D3K3

Conserved Domains (4) summary

PLN03086
Location:221 → 281

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 181

B41; Band 4.1 homologues

pfam00769
Location:261 → 510

ERM; Ezrin/radixin/moesin family

cl17171
Location:175 → 226

PH-like; Pleckstrin homology-like domain
XM_030245645.2 → XP_030101505.1 merlin isoform X2

UniProtKB/TrEMBL

Q9D3K3

Conserved Domains (4) summary

PLN03086
Location:262 → 322

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 222

B41; Band 4.1 homologues

pfam00769
Location:302 → 551

ERM; Ezrin/radixin/moesin family

cl17171
Location:216 → 267

PH-like; Pleckstrin homology-like domain
XM_036156402.1 → XP_036012295.1 merlin isoform X4

UniProtKB/TrEMBL

Q3TIW4

Conserved Domains (4) summary

PLN03086
Location:129 → 189

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:1 → 44

B41; Band 4.1 homologues

cd13194
Location:38 → 134

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:169 → 418

ERM; Ezrin/radixin/moesin family
XM_006514570.2 → XP_006514633.1 merlin isoform X1

See identical proteins and their annotated locations for XP_006514633.1

UniProtKB/TrEMBL

Q9D3K3

Related

ENSMUSP00000091066.5, ENSMUST00000093374.11

Conserved Domains (4) summary

PLN03086
Location:307 → 367

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 222

B41; Band 4.1 homologues

cd13194
Location:216 → 312

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 580

ERM; Ezrin/radixin/moesin family