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XSB1189 : neurofibromin 2 isoform 6 [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 6; 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_861967 NM_181829 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: 549 aa

Average Mass: 64.189 kDa

Monoisotopic Mass: 64.148 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain namebeginendscoree-value
FERM_M 1. 64181100.75e-27
FERM_C 1. 185274177.63.5e-50
--- cleavage 253 (inside FERM_C 185..274) ---
--- cleavage 257 (inside FERM_C 185..274) ---
ERM 1. 306538307.13.7e-89

3. Sequence Information

Fasta Sequence: XSB1189.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] FNSSKLRVNK253-LILQLCIGNH

Lys253 Leu

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
Phe244Asn245Ser246Ser247Lys248Leu249Arg250Val251Asn252Lys253
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'
Leu254Ile255Leu256Gln257Leu258Cys259Ile260Gly261Asn262His263

Sequence conservation (by blast)

[Site 2] KLRVNKLILQ257-LCIGNHDLFM

Gln257 Leu

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
Lys248Leu249Arg250Val251Asn252Lys253Leu254Ile255Leu256Gln257
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'
Leu258Cys259Ile260Gly261Asn262His263Asp264Leu265Phe266Met267

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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