merlin; moesin-ezrin-radixin-like protein; neurofibromin-2; schwannomin; schwannomerlin (NF2, SCH)
Jump to navigation
Jump to search
Function
- probably acts as a membrane stabilizing protein
- may inhibit PI3 kinase by binding to AGAP2 & impairing its stimulating activity
- interacts with SLC9A3R1, HGS & AGAP2
- interacts with LAYN (putative)
- interacts with SGSM3
- interacts with beta-II-spectrin (beta fodrin)
Structure
contains 1 FERM domain
Compartment
- isoform 1: cell projection, filopodium membrane; peripheral membrane protein, cytoplasmic side; ruffle membrane
- isoform 7: cytoplasm, perinuclear region, cytoplasmic granule concentrated in a perinuclear location; absent from ruffling membranes & filopodia
- isoform 9: cytoplasm, perinuclear region cytoplasmic granule concentrated in a perinuclear location; absent from ruffling membranes & filopodia
- isoform 10: nucleus. cell projection, filopodium membrane; peripheral membrane protein, cytoplasmic side; cytoplasm, perinuclear region; cytoplasmic granule; cytoplasm, cytoskeleton
Alternative splicing
named isoforms=10
Expression
- widely expressed
- isoforms 1 & 3 are predominant
- isoforms 4, 5 & 6 are expressed moderately, isoform 8 is found at low frequency
- isoforms 7, 9 & 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10
- isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle & spleen
- fetal thymus expresses isoforms 1, 7, 9 & 10 at similar levels
Pathology
- defects in NF2 are the cause of neurofibromatosis 2
- defects in NF2 are a cause of schwannomatosis
- absent in schwannomas, some meningiomas & ependymomas
More general terms
Additional terms
References
- ↑ Trofatter JA et al A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791-800 1993 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8453669
- ↑ Scoles DR et al Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. Nature Genet 18:354-9, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9537418
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4771
- ↑ UniProt http://www.uniprot.org/uniprot/P35240.html
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/NF2117.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=NF2
Database
- UniProt: http://www.uniprot.org/uniprot/P35240.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4771
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4771
- OMIM: https://mirror.omim.org/entry/101000
- OMIM: https://mirror.omim.org/entry/162091
- OMIM: https://mirror.omim.org/entry/607379