Nf2 MGI Mouse Gene Detail - MGI:97307

Symbol

Nf2
Name

neurofibromin 2
Synonyms

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

Feature Type

protein coding gene
IDs

MGI:97307
NCBI Gene: 18016
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

Chr11:4715845-4799536 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 3.00 cM
Mapping Data

4 experiments

SNPs within 2kb

2050 from dbSNP Build 142
Strain Annotations

18
PCR

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97307	protein coding gene	Chr11:4715845-4799544 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017989	protein coding gene	Chr11:1750785-1842367 (-)
A/J	MGP_AJ_G0017962	protein coding gene	Chr11:1717671-1803048 (-)
AKR/J	MGP_AKRJ_G0017926	protein coding gene	Chr11:1797613-1885322 (-)
BALB/cJ	MGP_BALBcJ_G0017930	protein coding gene	Chr11:1691196-1776029 (-)
C3H/HeJ	MGP_C3HHeJ_G0017743	protein coding gene	Chr11:1685428-1772992 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018382	protein coding gene	Chr11:1819294-1912107 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016040	protein coding gene	Chr11:1609929-1695875 (-)
CAST/EiJ	MGP_CASTEiJ_G0017306	protein coding gene	Chr11:1664730-1753838 (-)
CBA/J	MGP_CBAJ_G0017718	protein coding gene	Chr11:2094021-2185820 (-)
DBA/2J	MGP_DBA2J_G0017828	protein coding gene	Chr11:1635469-1704903 (-)
FVB/NJ	MGP_FVBNJ_G0017820	protein coding gene	Chr11:1658515-1742761 (-)
LP/J	MGP_LPJ_G0017899	protein coding gene	Chr11:1847981-1933155 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017846	protein coding gene	Chr11:1760017-1850158 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018422	protein coding gene	Chr11:1797358-1886189 (-)
PWK/PhJ	MGP_PWKPhJ_G0017085	protein coding gene	Chr11:1628414-1714325 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016882	protein coding gene	Chr11:1770865-1864551 (-)
WSB/EiJ	MGP_WSBEiJ_G0017359	protein coding gene	Chr11:1676112-1762377 (-)

Human Ortholog

NF2, NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NF2, NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
Synonyms

ACN, BANF, merlin-1, SCH, SWNV
Links

HGNC:7773

NCBI Gene ID: 4771

neXtProt AC: NX_P35240

UniProt: P35240
Chr Location

22q12.2; chr22:29603553-29698600 (+) GRCh38

MGI Vertebrate Homology

Nf2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NF2
Protein SuperFamily

ERM
Gene Tree

Nf2

Diseases

4 with Nf2 mouse models; 8 with human NF2 associations

Human Disease

Mouse Models

vestibular schwannomatosis

IDs

View 1 model

coloboma

IDs

View 1 model

otitis media

IDs

View 3 models

renal cell carcinoma

IDs

View 1 model

colorectal cancer

IDs

familial meningioma

IDs

View 1 model

gastrointestinal stromal tumor

IDs

hepatocellular carcinoma

IDs

malignant pleural mesothelioma

IDs

meningioma

IDs

neurilemmoma

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

3 with disease annotations

References

8 with disease annotations

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Phenotype Summary

90 phenotypes from 6 alleles in 11 genetic backgrounds
38 phenotypes from multigenic genotypes
84 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

96
Endonuclease-mediated

2
Gene trapped

84
Targeted

10
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

65 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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. Mice homozygous for a conditional allele activated in the eye exhibit coloboma.

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All GO Annotations

90
GO References

21

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

955
Tissues

193
cDNA Data

205
Literature Summary

23

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA NF2

Xenbase nf2

ZFIN nf2a

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All Sequences

119
RefSeq

26
UniProt

11
CCDS

CCDS24391.1, CCDS56757.1

Ensembl

ENSMUSG00000009073 (Evidence)
NCBI Gene

18016

			Length	Strain/Species	Flank
genomic	ENSMUSG00000009073	Ensembl Gene Model \| MGI Sequence Detail	83692	C57BL/6J	± kb
transcript	ENSMUST00000109910	Ensembl \| MGI Sequence Detail	4720	Not Applicable
polypeptide	ENSMUSP00000105536	Ensembl \| MGI Sequence Detail	596	Not Applicable

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UniProt

11 Sequences
Protein Ontology

PR:000003020 merlin

(term hierarchy)
PDB

1ISN, 3WA0, 4P7I, 4ZRK
InterPro Domains

IPR019749 Band 4.1 domain

IPR041789 ERM family, FERM domain C-lobe

IPR011174 Ezrin/radixin/moesin

IPR046810 Ezrin/radixin/moesin, alpha-helical domain

IPR011259 Ezrin/radixin/moesin, C-terminal

IPR000798 Ezrin/radixin/moesin-like

IPR014352 FERM/acyl-CoA-binding protein superfamily

IPR019748 FERM central domain

IPR019747 FERM conserved site

IPR018980 FERM, C-terminal PH-like domain

IPR000299 FERM domain

IPR018979 FERM, N-terminal

IPR035963 FERM superfamily, second domain

IPR008954 Moesin tail domain superfamily

IPR011993 PH-like domain superfamily

IPR029071 Ubiquitin-like domain superfamily

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All nucleic 217

Genomic 2

cDNA 206

Primer pair 5

Other 4

Microarray probesets 7

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MGD-MRK-12823

Summaries

All 168

Developmental Gene Expression 23

Diseases 8

Gene Ontology 21

Phenotypes 84
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:355649 Li Q, et al., Metabolic rewiring during bone development underlies tRNA m7G-associated primordial dwarfism. J Clin Invest. 2024 Sep 10;134(20)

TSS for Nf2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr106582	Chr11:4799345-4799473 (-)	127 bp
Tssr106581	Chr11:4799323-4799343 (-)	203 bp
Tssr106580	Chr11:4799101-4799118 (-)	426 bp
Tssr106579	Chr11:4783114-4783123 (-)	16,417 bp
Tssr106578	Chr11:4783077-4783084 (-)	16,455 bp
Tssr106577	Chr11:4783048-4783057 (-)	16,483 bp
Tssr106576	Chr11:4766655-4766664 (-)	32,876 bp
Tssr106575	Chr11:4758376-4758387 (-)	41,154 bp
Tssr106574	Chr11:4758353-4758356 (-)	41,181 bp
Tssr106573	Chr11:4758342-4758351 (-)	41,189 bp
Tssr106572	Chr11:4758322-4758329 (-)	41,210 bp
Tssr106571	Chr11:4757381-4757389 (-)	42,151 bp
Tssr106570	Chr11:4754003-4754023 (-)	45,523 bp
Tssr106569	Chr11:4739834-4739842 (-)	59,698 bp
Tssr106568	Chr11:4739815-4739828 (-)	59,714 bp
Tssr106567	Chr11:4739792-4739813 (-)	59,733 bp
Tssr106566	Chr11:4739773-4739782 (-)	59,758 bp
Tssr106565	Chr11:4739734-4739760 (-)	59,789 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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