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onsdag 13 mars 2024

Neurofibromin 2, NF2, Merlin

 https://ar.iiarjournals.org/content/33/1/1/tab-figures-data

function

Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.

 

GeneCards:

NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor 2 3 5

Merlin 2 3 4 5
SCH 2 3 4 5
Schwannomin 2 3 4
Merlin-1 2 3 5
BANF 2 3 5
ACN 2 3 5
Neurofibromin 2 (Bilateral Acoustic Neuroma) 2 3
Bilateral Acoustic Neurofibromatosis 2 3
Moesin-Ezrin-Radixin-Like Protein 3 4
Moesin-Ezrin-Radixin Like 2 3
Neurofibromin-2 3 4
Schwannomerlin 3 4
Moesin-Ezrin-Radizin-Like Protein 3
Neurofibromin 2 (Merlin) 2
SWNV 3
Protein Symbol:
P35240-MERL_HUMAN
Recommended name: Merlin
  • This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded protein is involved in regulation of contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling. The encoded protein has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics, and proteins involved in regulating ion transport. Disruption of this protein's function has been implicated in tumorigenesis and metastasis. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. [provided by RefSeq, May 2022]

GeneCards Summary for NF2 Gene

NF2 (NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor) is a Protein Coding gene. Diseases associated with NF2 include Schwannomatosis, Vestibular and Meningioma, Familial. Among its related pathways are Signaling by Rho GTPases and Regulation of actin dynamics for phagocytic cup formation. Gene Ontology (GO) annotations related to this gene include actin binding and cytoskeletal protein binding. An important paralog of this gene is RDX.

UniProtKB/Swiss-Prot Summary for NF2 Gene

Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. ( MERL_HUMAN,P35240 )

Protein attributes for NF2 Gene
Size:595 amino acids
Quaternary structure:

  • Interacts with NHERF1, HGS and AGAP2.
    Interacts with LAYN (By similarity).
    Interacts with SGSM3.
    Interacts (via FERM domain) with MPP1.
    Interacts with WWC1.
    Interacts with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.
    The unphosphorylated form interacts (via FERM domain) with VPRBP/DCAF1.
    Interacts (via FERM domain) with NOP53; the interaction is direct (PubMed:21167305).
    Interacts with SCHIP1; the interaction is direct (PubMed:10669747).

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