• Gene id: 4771

Gene Summary

• Gene Symbol: NF2   Gene   UCSC   Ensembl
• Aliases: ACN, BANF, SCH
• Gene name: neurofibromin 2
• Alternate names: merlin, moesin-ezrin-radixin like, moesin-ezrin-radixin-like protein, moesin-ezrin-radizin-like protein, neurofibromin 2 (bilateral acoustic neuroma), schwannomerlin, schwannomin,
• Gene location: 22q12.2 (29603555: 29698599)     Exons: 19     NC_000022.11
• Gene summary(Entrez): 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-
• OMIM: 607379

Protein Summary

• Protein general information: P35240  
  • Name: Merlin (Moesin ezrin radixin like protein) (Neurofibromin 2) (Schwannomerlin) (Schwannomin)
  • Length: 595  
  • Mass: 69,690
• Sequence:

  MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWL
  KMDKKVLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKY
  GDYDPSVHKRGFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIR
  NKKGTELLLGVDALGLHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLC
  IGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALM
  RSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKE
  ADQLKQDLQEAREAERRAKQKLLEIATKPTYPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEK
  VEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKLTLQSAKSRVAFFEEL

• Structural information:
  • Protein Domains: FERM. (22-311)
  • Interpro: IPR019749  IPR011174  IPR011259  IPR000798  IPR014352   IPR035963  IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR008954  IPR011993  IPR029071  
  • Prosite: PS00660 PS00661 PS50057
  • CDD: cd14473
  • PDB: 1H4R 3U8Z 4ZRI 4ZRJ
  • PDBsum: 1H4R 3U8Z 4ZRI 4ZRJ
  • DIP: 35389
  • STRING: ENSP00000344666
• Other Databases: GeneCards:  NF2  Malacards:  NF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001707	mesoderm formation	IEA	biological process
GO:0001953	negative regulation of cell-matrix adhesion	TAS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005178	integrin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0007398	ectoderm development	IEA	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0008156	negative regulation of DNA replication	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0014010	Schwann cell proliferation	IMP	biological process
GO:0014013	regulation of gliogenesis	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0019898	extrinsic component of membrane	IEA	cellular component
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0021766	hippocampus development	IEA	biological process
GO:0022408	negative regulation of cell-cell adhesion	IDA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0030036	actin cytoskeleton organization	IMP	biological process
GO:0030308	negative regulation of cell growth	IEA	biological process
GO:0030336	negative regulation of cell migration	TAS	biological process
GO:0030864	cortical actin cytoskeleton	IEA	cellular component
GO:0031527	filopodium membrane	IEA	cellular component
GO:0031647	regulation of protein stability	IEA	biological process
GO:0032154	cleavage furrow	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0035330	regulation of hippo signaling	IMP	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042518	negative regulation of tyrosine phosphorylation of Stat3 protein	IDA	biological process
GO:0042524	negative regulation of tyrosine phosphorylation of Stat5 protein	IDA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0043234	protein complex	IEA	cellular component
GO:0043409	negative regulation of MAPK cascade	IEA	biological process
GO:0044297	cell body	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045216	cell-cell junction organization	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0046426	negative regulation of JAK-STAT cascade	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process
GO:0070306	lens fiber cell differentiation	IEA	biological process
GO:0072091	regulation of stem cell proliferation	IEA	biological process
GO:1900180	regulation of protein localization to nucleus	IEA	biological process
GO:2000177	regulation of neural precursor cell proliferation	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0001726	ruffle	IEA	cellular component
GO:0001953	negative regulation of cell-matrix adhesion	TAS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005178	integrin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0007398	ectoderm development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0008156	negative regulation of DNA replication	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0014010	Schwann cell proliferation	IMP	biological process
GO:0014013	regulation of gliogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0019898	extrinsic component of membrane	IEA	cellular component
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0021766	hippocampus development	IEA	biological process
GO:0022408	negative regulation of cell-cell adhesion	IDA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0030036	actin cytoskeleton organization	IMP	biological process
GO:0030175	filopodium	IEA	cellular component
GO:0030308	negative regulation of cell growth	IEA	biological process
GO:0030336	negative regulation of cell migration	TAS	biological process
GO:0030864	cortical actin cytoskeleton	IEA	cellular component
GO:0031527	filopodium membrane	IEA	cellular component
GO:0031647	regulation of protein stability	IEA	biological process
GO:0032154	cleavage furrow	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0035330	regulation of hippo signaling	IMP	biological process
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042518	negative regulation of tyrosine phosphorylation of Stat3 protein	IDA	biological process
GO:0042524	negative regulation of tyrosine phosphorylation of Stat5 protein	IDA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0043234	protein complex	IEA	cellular component
GO:0043409	negative regulation of MAPK cascade	IEA	biological process
GO:0044297	cell body	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045216	cell-cell junction organization	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0046426	negative regulation of JAK-STAT cascade	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process
GO:0070306	lens fiber cell differentiation	IEA	biological process
GO:0072091	regulation of stem cell proliferation	IEA	biological process
GO:1900180	regulation of protein localization to nucleus	IEA	biological process
GO:2000177	regulation of neural precursor cell proliferation	IEA	biological process
GO:0001953	negative regulation of cell-matrix adhesion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0008156	negative regulation of DNA replication	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0014010	Schwann cell proliferation	IMP	biological process
GO:0016020	membrane	IDA	cellular component
GO:0022408	negative regulation of cell-cell adhesion	IDA	biological process
GO:0030036	actin cytoskeleton organization	IMP	biological process
GO:0030336	negative regulation of cell migration	TAS	biological process
GO:0035330	regulation of hippo signaling	IMP	biological process
GO:0042518	negative regulation of tyrosine phosphorylation of Stat3 protein	IDA	biological process
GO:0042524	negative regulation of tyrosine phosphorylation of Stat5 protein	IDA	biological process
GO:0046426	negative regulation of JAK-STAT cascade	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Medulloblastoma	KEGG: H01667
Malignant mesothelioma	KEGG: H00015
Cancer	GAD: 15824172
Cancer (meningioma)	GAD: 15824172
Cancer (pancreatic)	GAD: 19351817
Carotid artery diseases	GAD: 20009918
Neurofibromatosis	GAD: 9605590
Acoustic Neurofibromatosis	GAD: 18033041
Meningioma	KEGG: H01556
Sperm capacitation	MIK: 26258444
Gastrointestinal nerve sheath tumors	GAD: 13679444
Schwannomatosis	OMIM: 607379
Cryptorchidism	MIK: 28606200
Sperm capacitation	MIK: 26258444
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26258444	Sperm capacitation				Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R