Nf2
Gene Detail

Symbol Name ID

Nf2 neurofibromatosis 2 MGI:97307

STS

D11Mcg1

Synonyms

merlin, moesin-ezrin-radixin-like protein, schwannomin

Feature Type

protein coding gene

Genetic Map

Chromosome 11

3.00 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr11:4765845-4849536 bp, - strand From VEGA annotation of GRCm38   83692 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:2180  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: ezrin/radixin/moesin
Gene Tree: Nf2

Human homologs

Human Homolog		NF2, neurofibromin 2 (merlin)
NCBI Gene ID		4771
neXtProt AC		NX_P35240
Human Synonyms		ACN, BANF, SCH
Human Chr (Location)		22q12.2; chr22:29999545-30094589 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human NF2

Alleles and phenotypes

All alleles(105) : Targeted(6) Gene trapped(99)
 

Homozygous targeted null mutants lack extraembryonic ectoderm, do not initiate gastrulation and die by embryonic day 7. Heterozygotes develop malignant tumors, especially osteosarcomas. Conditional Schwann cell knockouts resemble neurofibromatosis type 2.

 
Human Diseases Modeled Using Mouse Nf2 (3)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (53 annotations)

Process	actin cytoskeleton organization, cell-cell junction organization, ...
Component	adherens junction, cell projection, ...
Function	beta-catenin binding, cytoskeletal protein binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (10 records)
Data Summary: Results (140)    Tissues (122)    Images (18)
Theiler Stages: 7, 8, 10, 12, 14, 16, 18, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	93
Western blot	30
RT-PCR	17

cDNA source data(205)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(212) Genomic(2) cDNA(206) Primer pair(4)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000005071 (Evidence)
Ensembl Gene Model	ENSMUSG00000009073 (Evidence)
Entrez Gene	18016 (Evidence)
UniGene	297109
DFCI	TC1572386, TC1583718, TC1590288, TC1590632, TC1621445, TC1623064, TC1624808, TC1693351
DoTS	DT.101137204, DT.101213284, DT.101713573, DT.103600904, DT.55100747, DT.55226162, DT.91326594, DT.91342907, DT.94362751
NIA Mouse Gene Index	U032451
PDB	1ISN
Consensus CDS Project	CCDS24391.1, CCDS56757.1
International Mouse Knockout Project Status	Nf2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005071	VEGA Gene Model | MGI Sequence Detail	83692	C57BL/6J
transcript	OTTMUST00000011302	VEGA | MGI Sequence Detail	4720	Not Applicable
polypeptide	OTTMUSP00000005267	VEGA | MGI Sequence Detail	596	Not Applicable

All sequences(120) RefSeq(10) UniProt(11)

Polymorphisms

PCR(2) : SNPs(393 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR019749	Band 4.1 domain
InterPro	IPR019750	Band 4.1 family
InterPro	IPR011174	Ezrin/radixin/moesin
InterPro	IPR011259	Ezrin/radixin/moesin, C-terminal
InterPro	IPR000798	Ezrin/radixin/moesin like
InterPro	IPR014352	FERM/acyl-CoA-binding protein, 3-helical bundle
InterPro	IPR019748	FERM central domain
InterPro	IPR019747	FERM conserved site
InterPro	IPR018980	FERM, C-terminal PH-like domain
InterPro	IPR000299	FERM domain
InterPro	IPR018979	FERM, N-terminal
InterPro	IPR008954	Moesin
InterPro	IPR011993	Pleckstrin homology-like domain
Protein Ontology	PR:000003020	merlin

References

(Earliest) J:16430 Hara T, et al., Molecular cloning and characterization of alternatively spliced transcripts of the mouse neurofibromatosis 2 gene. Cancer Res. 1994 Jan 15;54(2):330-5
(Latest) J:192009 Hebert AM, et al., Merlin/ERM proteins establish cortical asymmetry and centrosome position. Genes Dev. 2012 Dec 15;26(24):2709-23
All references(94)

Other accession IDs

MGD-MRK-12823