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XSB0321 : neurofibromin 2 isoform 5 [Homo sapiens]

[ CaMP Format ]

This entry is computationally expanded from SB0009

* Basic Information

OrganismHomo sapiens (human)
Protein NamesMerlin; Moesin-ezrin-radixin-like protein; Neurofibromin-2; Schwannomin; Schwannomerlin; neurofibromin 2 isoform 5; moesin-ezrin-radizin-like protein; neurofibromin 2 (bilateral acoustic neuroma); moesin-ezrin-radixin like
Gene NamesNF2; SCH; neurofibromin 2 (merlin)
Gene Locus22q12.2; chromosome 22
GO FunctionNot available
Entrez Protein Entrez Nucleotide Entrez Gene UniProt OMIM HGNC HPRD KEGG
NP_861966 NM_181828 4771 P35240 607379 7773 N/A hsa:4771

* Information From OMIM

Description: Cell-cell contact between normal cultured diploid cells results in inhibition of proliferation despite the unlimited availability of nutrients and growth-promoting factors. A similar phenomenon occurs in vivo in all adult solid tissues. NF2 is a critical regulator of contact-dependent inhibition of proliferation and functions at the interface between cell-cell adhesion, transmembrane signaling, and the actin cytoskeleton (Curto and McClatchey, 2008).

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* Structure Information

1. Primary Information

Length: 548 aa

Average Mass: 63.996 kDa

Monoisotopic Mass: 63.956 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain namebeginendscoree-value
FERM_M 1. 62180141.82.1e-39
FERM_C 1. 184273177.63.5e-50
--- cleavage 256 (inside FERM_C 184..273) ---
--- cleavage 252 (inside FERM_C 184..273) ---
ERM 1. 305537307.13.7e-89

3. Sequence Information

Fasta Sequence: XSB0321.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Known Structures in PDB: 1H4R (X-ray; 180 A; A/B=1-313)

* Cleavage Information

2 [sites]

Cleavage sites (±10aa)

[Site 1] KLRVNKLILQ256-LCIGNHDLFM

Gln256 Leu

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
Lys247Leu248Arg249Val250Asn251Lys252Leu253Ile254Leu255Gln256
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'
Leu257Cys258Ile259Gly260Asn261His262Asp263Leu264Phe265Met266

Sequence conservation (by blast)

[Site 2] FNSSKLRVNK252-LILQLCIGNH

Lys252 Leu

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
Phe243Asn244Ser245Ser246Lys247Leu248Arg249Val250Asn251Lys252
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'
Leu253Ile254Leu255Gln256Leu257Cys258Ile259Gly260Asn261His262

Sequence conservation (by blast)

* References

[PubMed ID: 19351817] Blackford A, Parmigiani G, Kensler TW, Wolfgang C, Jones S, Zhang X, Parsons DW, Lin JC, Leary RJ, Eshleman JR, Goggins M, Jaffee EM, Iacobuzio-Donahue CA, Maitra A, Klein A, Cameron JL, Olino K, Schulick R, Winter J, Vogelstein B, Velculescu VE, Kinzler KW, Hruban RH, Genetic mutations associated with cigarette smoking in pancreatic cancer. Cancer Res. 2009 Apr 15;69(8):3681-8. Epub 2009 Apr 7.

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