Mus musculus Gene: Nf2
Summary
InnateDB Gene IDBG-142996.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Nf2
Gene Name neurofibromatosis 2
Synonyms merlin;
Species Mus musculus
Ensembl Gene ENSMUSG00000009073
Encoded Proteins
neurofibromatosis 2
neurofibromatosis 2
neurofibromatosis 2
neurofibromatosis 2
neurofibromatosis 2
neurofibromatosis 2
neurofibromatosis 2
neurofibromatosis 2
neurofibromatosis 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000186575:
This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:4765845-4849536
Strand Reverse strand
Band A1
Transcripts
ENSMUST00000053079 ENSMUSP00000055033
ENSMUST00000093374 ENSMUSP00000091066
ENSMUST00000056290 ENSMUSP00000055061
ENSMUST00000109910 ENSMUSP00000105536
ENSMUST00000109908
ENSMUST00000141342
ENSMUST00000152656 ENSMUSP00000128494
ENSMUST00000137926 ENSMUSP00000116505
ENSMUST00000155600
ENSMUST00000124878 ENSMUSP00000132184
ENSMUST00000164190 ENSMUSP00000129388
ENSMUST00000167480
ENSMUST00000172305 ENSMUSP00000130263
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 36 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 36 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
Biological Process
GO:0001707 mesoderm formation
GO:0006469 negative regulation of protein kinase activity
GO:0007398 ectoderm development
GO:0007420 brain development
GO:0008156 negative regulation of DNA replication
GO:0008285 negative regulation of cell proliferation
GO:0014010 Schwann cell proliferation
GO:0021766 hippocampus development
GO:0022408 negative regulation of cell-cell adhesion
GO:0030036 actin cytoskeleton organization
GO:0031647 regulation of protein stability
GO:0035330 regulation of hippo signaling
GO:0042127 regulation of cell proliferation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042518 negative regulation of tyrosine phosphorylation of Stat3 protein
GO:0042524 negative regulation of tyrosine phosphorylation of Stat5 protein
GO:0043409 negative regulation of MAPK cascade
GO:0045216 cell-cell junction organization
GO:0045597 positive regulation of cell differentiation
GO:0046426 negative regulation of JAK-STAT cascade
GO:0051496 positive regulation of stress fiber assembly
GO:0070306 lens fiber cell differentiation
GO:1900180 regulation of protein localization to nucleus
GO:2000177 regulation of neural precursor cell proliferation
Cellular Component
GO:0001726 ruffle
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005769 early endosome
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0016020 membrane
GO:0019898 extrinsic component of membrane
GO:0030027 lamellipodium
GO:0030175 filopodium
GO:0030864 cortical actin cytoskeleton
GO:0032154 cleavage furrow
GO:0045177 apical part of cell
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
ErbB2/ErbB3 signaling events
Cross-References
SwissProt P46662
TrEMBL E9PW99 E9Q7I0 F7DBY2 Q3TIW4
UniProt Splice Variant
Entrez Gene 18016
UniGene
RefSeq NM_001252250 NM_001252251 NM_001252252 NM_001252253 NM_010898 XM_006514569 XM_006514574
OMIM
CCDS CCDS24391 CCDS56757
HPRD
IMGT
MGI ID MGI:97307
MGI Symbol Nf2
EMBL AK045998 AK167685 AL606521 AL645603 L27090 L27105 L28176 X74671 X75759
GenPept AAA39807 AAA39808 AAA63648 BAC32567 BAE39732 CAA52737 CAA53386
RNA Seq Atlas 18016