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XSB1187 : neurofibromin 2 isoform 2 [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 2; 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_057502 NM_016418 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: 590 aa

Average Mass: 69.090 kDa

Monoisotopic Mass: 69.046 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain namebeginendscoree-value
FERM_N 1. 2610295.02.7e-25
FERM_M 1. 104222141.82.1e-39
FERM_C 1. 226315177.63.5e-50
--- cleavage 294 (inside FERM_C 226..315) ---
--- cleavage 298 (inside FERM_C 226..315) ---
ERM 1. 347579307.13.7e-89

3. Sequence Information

Fasta Sequence: XSB1187.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] FNSSKLRVNK294-LILQLCIGNH

Lys294 Leu

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
Phe285Asn286Ser287Ser288Lys289Leu290Arg291Val292Asn293Lys294
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'
Leu295Ile296Leu297Gln298Leu299Cys300Ile301Gly302Asn303His304

Sequence conservation (by blast)

[Site 2] KLRVNKLILQ298-LCIGNHDLFM

Gln298 Leu

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
Lys289Leu290Arg291Val292Asn293Lys294Leu295Ile296Leu297Gln298
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'
Leu299Cys300Ile301Gly302Asn303His304Asp305Leu306Phe307Met308

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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