Homo sapiens Gene: NF2
Summary
InnateDB Gene IDBG-3678.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NF2
Gene Name neurofibromin 2 (merlin)
Synonyms ACN; BANF; SCH;
Species Homo sapiens
Ensembl Gene ENSG00000186575
Encoded Proteins
neurofibromin 2 (merlin)
neurofibromin 2 (merlin)
neurofibromin 2 (merlin)
neurofibromin 2 (merlin)
neurofibromin 2 (merlin)
neurofibromin 2 (merlin)
neurofibromin 2 (merlin)
neurofibromin 2 (merlin)
neurofibromin 2 (merlin)
neurofibromin 2 (merlin)
neurofibromin 2 (merlin)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 22:29603556-29698598
Strand Forward strand
Band q12.2
Transcripts
ENST00000361166 ENSP00000354529
ENST00000338641 ENSP00000344666
ENST00000361452 ENSP00000354897
ENST00000361676 ENSP00000355183
ENST00000353887 ENSP00000340626
ENST00000334961 ENSP00000335652
ENST00000397789 ENSP00000380891
ENST00000403435 ENSP00000384029
ENST00000403999 ENSP00000384797
ENST00000413209 ENSP00000409921
ENST00000432151 ENSP00000395885
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 65 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 65 [view]
Protein-Protein 64 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [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:0001953 negative regulation of cell-matrix adhesion
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:0030336 negative regulation of cell migration
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:0031527 filopodium membrane
GO:0032154 cleavage furrow
GO:0032587 ruffle membrane
GO:0045177 apical part of cell
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
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
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
ErbB2/ErbB3 signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.608781 Hs.627925 Hs.628119
RefSeq NM_000268 NM_016418 NM_181825 NM_181828 NM_181829 NM_181830 NM_181831 NM_181832 NM_181833
HUGO
OMIM
CCDS CCDS13861 CCDS13862 CCDS13863 CCDS13864 CCDS13865 CCDS54516
HPRD 06980
IMGT
EMBL
GenPept
RNA Seq Atlas