Description: Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 13, mRNA. RefSeq Summary (NM_181831): This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr22:29,999,545-30,079,904 Size: 80,360 Total Exon Count: 15 Strand: + Coding Region Position: hg19 chr22:29,999,988-30,079,044 Size: 79,057 Coding Exon Count: 14
Carotid atherosclerosis in HIV infection Shrestha ,et al. 2010, A genome-wide association study of carotid atherosclerosis in HIV-infected men, AIDS (London, England) 2009 .
[PubMed 20009918]
These results suggest that in the context of HIV infection and HAART, a functional SNP in a biologically plausible candidate gene, RYR3, is associated with increased common carotid IMT, which is a surrogate for atherosclerosis.
Neurofibromatosis type 2 Kluwe L et al. 1998, Phenotypic variability associated with 14 splice-site mutations in the NF2 gene., American journal of medical genetics. 1998 May;77(3):228-33.
[PubMed 9605590]
neurofibromatosis2 Baser, M. E. et al. 2004, Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-basedstudy., American journal of human genetics. 2004 Aug;75(2):231-9.
[PubMed 15190457]
We found statistically significant genotype-phenotype correlations for intracranial meningiomas, spinal tumors, and peripheral nerve tumors. People with constitutional NF2 missense mutations, splice-site mutations, large deletions, or somatic mosaicism had significantly fewer tumors than did people with constitutional nonsense or frameshift NF2 mutations. In addition, there were significant intrafamilial correlations for intracranial meningiomas and spinal tumors, after adjustment for the type of constitutional NF2 mutation. The type of constitutional NF2 mutation is an important determinant of the number of NF2-associated intracranial meningiomas, spinal tumors, and peripheral nerve tumors.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF00373 - FERM central domain PF00769 - Ezrin/radixin/moesin family PF09380 - FERM C-terminal PH-like domain
SCOP Domains: 47031 - Second domain of FERM 48678 - Moesin tail domain 50729 - PH domain-like
ModBase Predicted Comparative 3D Structure on P35240-4
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
