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NF2 gene

NF2 Gene - GeneCards MERL Protein MERL Antibod

  1. 2) is a Protein Coding gene. Diseases associated with NF2 include Neurofibromatosis, Type Ii and Schwannomatosis 1. Among its related pathways are Signaling by GPCR and ErbB2/ErbB3 signaling events. Gene Ontology (GO) annotations related to this gene include actin binding and cytoskeletal protein binding
  2. o acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left
  3. Neurofibromatosis type 2 (NF2) is a genetic condition that causes tumours to grow along your nerves. The tumours are usually non-cancerous (benign) but may cause a range of symptoms. Neurofibromatosis type 1 (NF1) is covered separately because it has different symptoms and causes. It's also much more common than NF2
  4. ant pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Do
  5. -2 (NF2; 607379), which is also called merlin, on chromosome 22q12
  6. ant manner. Approximately 50% of individuals with NF2 have an affected parent, and 50% have NF2 as the result of a de novo pathogenic variant. However, 25% to 30% of simplex cases (i.e., single occurrence in a family) are mosaic for an NF2 pathogenic variant. If the proband has other affected family members, each child of the proband has a 50% chance of inheriting the pathogenic variant

NF2 Gene - Somatic Mutations in Cance

Cancers | Free Full-Text | The Role of Merlin/NF2 Loss in

Neurofibromatosis type 2 - NH

NF2 (neurofibromin 2 (merlin)) is a protein-coding gene. Diseases associated with NF2 include plexiform schwannoma , and neurofibromatosis type 5 . GO annotations related to this gene include cytoskeletal protein binding The NF2 gene plays a role in the tumorigenesis of pediatric meningiomas and chromogenic in situ hybridization detects NF2 gene deletion in formalin-fixed, paraffin-embedded tissues. functional loss of the NF2 protein may be involved in the formation of a subset of human malignant mesotheliom Gene: NF2 - ENSG00000186575 - Homo sapiens (human Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve) The loss of NF2 gene function leads to vestibular nerve schwannoma formation in humans. The NF2 gene product, Merlin/Schwannomin, has recently been found to interact with the two PDZ domains containing protein EBP50/NHE-RF, which is itself known to interact with the PDGF receptor (PDGFR) in several cell types

Neurofibromatosis type 2 Genetic and Rare Diseases

OMIM Entry - # 101000 - NEUROFIBROMATOSIS, TYPE II; NF

Functional Associations. NF2 has 6,208 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 88 datasets Gene symbol: NF2: Gene name: neurofibromin 2 (merlin) Chromosome: 22: Chromosomal band: q12.2: Imprinted: Unknown: Genomic reference: NG_009057.1: Transcript reference: NM_000268.3: Exon/intron information: NM_000268.3 exon/intron table: Associated with diseases: meningioma, NF, NF-2, SWNTS: Citation reference(s)-Refseq URL: Genomic reference sequence: Curators (1) Beatrice Parfai The neurofibromatosis type 2 gene (NF2), a prime candidate for involvement in meningioma, was screened for point mutations. After examining eight of the 16 known NF2 exons in 151 meningiomas, 24. La neurofibromina 2, anche chiamata merlina o schwannomina è una proteina del citoscheletro. Negli esseri umani è codificata da un gene oncosoppressore coinvolto nella patogenesi della neurofibromatosi di tipo 2. L'analisi della sequenza genica rivela una somiglianza alla famiglia delle proteine ERM: moesina, ezrina e radixina Historique. La maladie a été décrite la première fois en 1822 [1].Son caractère héréditaire est noté en 1920 [2].Son gène a été identifié en 1993 [3].. Génétique. Le gène NF2 est le seul gène connu responsable de neurofibromatose de type II.Plusieurs mécanismes sont responsables de son dysfonctionnement

NF2. Add-on Schwannomatosis Gene. SMARCB1. Prior to the development of vestibular schwannomas, NF2 can be difficult to distinguish from schwannomatosis. The development of vestibular schwannomas, usually by age 30, is a hallmark of NF2, whereas in schwannomatosis, vestibular schwannomas are absent. This gene can be added for no additional charge Gene function. The NF2 gene encodes merlin, also known as schwannomin, a protein involved in controlling the shape of cells and movement and communication between them. The NF2 gene also functions as a tumor-suppressor gene by inhibiting cell proliferation

The NF1 gene makes a protein called neurofibromin, which regulates cell division in the nervous system and functions as a kind of molecular brake to keep cells from growing out of control. The gene for NF2 is located on chromosome 22. The NF2 gene product is a tumor-suppressor protein (called merlin or schwannomin) Dr. Chris Mueller from UMass attended NF2 BioSolutions's NF2 Gene Therapy Consortium in Boston on March 29th. Being moved by the impact of NF2, Dr. Mueller decided to run a gene therapy pilot study to identify if his lab's gene therapy platform could be a good candidate for tackling the NF2 mutation GeneCards Summary for NF2 Gene: NF2 (neurofibromin 2 (merlin)) is a protein-coding gene. Diseases associated with NF2 include plexiform schwannoma, and neurofibromatosis type 5. GO annotations related to this gene include cytoskeletal protein binding. An important paralog of this gene is MSN. UniProtKB/Swiss-Prot: MERL_HUMAN, P3524 NF 2 Gene The official name of this gene is neurofibromin 2 (merlin). NF2 is the gene's official symbol. The NF2 gene is also known by other names. ----- Biallelic inactivation of the NF2 gene has been established as the principal underlying genetic event in patients with sporadic and syndrome-associated vestibular schwannoma (VS) The NF2 gene provides instructions for the production of a protein called merlin, also known as schwannomin. This protein is made in the nervous system, particularly in specialized cells called Schwann cells that wrap around and insulate nerves. Merlin helps regulate several key signaling pathways that are important for controlling cell shape, cell growth, and the attachment of cells to one.

Neurofibromatosis

Abstract. Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. The schwannomin (also termed merlin) protein encoded by the NF2 gene shows a close relationship to the family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins). Even though penetrance of the disease is >95% and no genetic heterogeneity has been. NF2 patients, mutations in the NF2 gene have been iden- tified in malignant mesotheliomas of the lung (Sekido et al. 1995). Through positional cloning and LOH studies, the NF2 gene was cloned and its protein product identified by homology as a member of the band 4.1 family of pro The NF2 gene was cloned in 1993 by two groups. As expected by Knudson's two-hit hypothesis, patients with NF2 have a germline mutation in the NF2 gene and loss of the second allele in tumors. Subsequent studies on the NF2 protein have established its role in linking the cell membrane to the cytoskeleton, and progress on the nature of. Type 2 neurofibromatosis (NF2) is an autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene NF2 on chromosome 22. Around 1 in 33 000 people are born with an NF2 mutation although more than one-third of the 60% of de novo cases are not conceived with the mutation but this develops later in embryogenesis (mosaics). NF2 has a substantial effect on life expectancy and. The NF2 gene is located on the long arm of chromosome 22 (22q12) and encodes the merlin protein (also known as schwannomin). It plays a role in contact inhibition of growth and has tumor suppressor function at least in part according to this mechanism 9

Neurofibromatosis Type 2 Cancer

Neurofibromatosis type II - Wikipedi

NF2 gene. The gene for NF2 is cytogenetically located on the long (q) arm of chromosome 22, band q12.2 (22q12.2) The NF2 gene codes for the protein neurofibromin 2, also called merlin or schwannomin. The NF2 gene spans 110,000 base pairs, or 110 kilobases, and is composed of 16 constitutive exons and one alternatively spliced exon. Individuals. NF2 Biosolutions is a US registered volunteer charitable organization, which has brought together a group of the foremost neurologists, neurosurgeons, geneticists and researchers to examine the ways in which gene therapy can be an effective cure for NF2 The NF2 gene was identified in 1993 [1-3], and the protein it codes was named merlin not after the mythological sorcerer, but as an acronym of the first letters of moesin-, ezrin-, radixin-like protein, being a part of the band 4.1 families of cytoskeleton-associated proteins also called ERM family of proteins.Merlin acts as tumor suppressor and its inactivation leads to the loss of the protein 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). Cloning and Expression. Trofatter et al. (1993) identified a candidate gene responsible for neurofibromatosis II (NF2; 101000)

GeneReviews® - NCBI Bookshel

Why Gene Therapy for NF2? There are many challenges that have prevented gene therapy from being successful at treating human disease. Many diseases such as stroke, diabetes type 2, and heart disease are caused by many factors, both genetic and environmental, so it becomes hard to identify specific gene targets Gene Exp Nf2 Mm00477771 M1, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 92/100, based on 10 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and mor Gene: NF2; neurofibromin 2. Aliases: ACN, SCH, BANF. Location: 22q12.2. Summary: 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.

Merlin (protein) - Wikipedi

The most frequent numerical cytogenetic abnormality in MMs is loss of chromosome 22. The neurofibromatosis type 2 gene (NF2) is a tumor suppressor gene assigned to chromosome 22q which plays an important role in the development of familial and spontaneous tumors of neuroectodermal origin NF2 gene — NF2 is consistently linked with abnormalities of the NF2 gene, which is located on chromosome 22 . The NF2 gene produces merlin, also known as schwannomin, a cell membrane-related protein that acts as a tumor suppressor Compare & Order NF2 plasmids, CDNA clones, ORF clones and more genomics products. Wide variety of Top suppliers High-quality customer support The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. McClatchey AI, Saotome I, Ramesh V, Gusella JF, Jacks T: Genes & development. 1997 ; 11 (10) : 1253-1265. PMID 9171370 : Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for. 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

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 LZTR1, NF2, SMARCB1. Disorders: Neurofibromatosis Type 2. Schwannomatosis. Clinical Utility: Establish or confirm a clinical diagnosis. Identification of at-risk family members. Development of an appropriate evaluation and management Prenatal diagnosis for known familial mutation (s) in at-risk pregnancies. Lab Method Gene Effect: Outcome from DEMETER2 or CERES. A lower score means that a gene is more likely to be dependent in a given cell line. A score of 0 is equivalent to a gene that is not essential whereas a score of -1 corresponds to the median of all common essential genes INTRODUCTION. Neurofibromatosis type 2 (NF2) is a dominantly inherited neoplasia syndrome resulting from germline mutation of the NF2 tumor suppressor gene ().The hallmark of NF2 is bilateral vestibular schwannomas (VSs), which progressively enlarge leading to sensorineural hearing loss (SNHL) that translates to social impairment and clinical depression ()

Nf2 gene expression in Bgee. We are happy to announce that we have released the new Bgee 15 version as a beta test Genetic testing by blood test can be done to look for defects in the NF2 gene. Treatment . Doctors do not know how to stop the tumors from growing in neurofibromatosis. Surgery can be used to remove tumors that are causing pain or problems with vision or hearing. Chemical or radiation treatments may be used to reduce the size of tumors [同義語:Bilateral Acoustic Neurofibromatosis, Central Neurofibromatosis, NF2, Neurofibromatosis Type II] Gene Reviews著 者: D Gareth Evans、 MD、 FRCP 日本語訳者: 小川千穂(ボランティア翻訳者),櫻井晃洋(信州大学医学部附属病院遺伝子診療部) Gene Reviews 2011.8.18 NF2 tumors are and typically remain benign (noncancerous). Each NF2 tumor type can result in serious damage as a result of what each tumor grows on or near, and tumor malignancy (cancerous) is a possibility with tumors over a few centimeters. Based on an individual's exact NF2 mutation (variation), tumor development follows a typical pattern.

NF2 is caused by a mutation in the NF2 gene. The NF2 gene regulates (encodes for) the production of a protein known as merlin/schwannomin that plays a role in suppressing the development of certain tumors (tumor suppressor). According to investigators, merlin/schwannomin is related to a class of proteins (ezrin-radixin-moesin proteins) that serve to link the internal, supportive system within. Neurofibromatosis type 2 (NF2) is a rare genetic condition usually diagnosed in young adults. It affects around one in 25,000 to 40,000 people. NF2 can cause a variety of symptoms and complications, including hearing loss as well as problems with balance and swallowing. Among the most serious is a. Summary - NF1 vs NF2. Neurofibromatosis is a nervous disorder with a genetic predisposition. In NF1 only neurofibromas develop whereas in NF2 different types of tumors including cutaneous neurofibromas, acoustic neuromas, meningiomas and gliomas develop. This is the key difference between NF1 and NF2

New Strategies in Pleural Mesothelioma: BAP1 and NF2 as

In tumour tissue, loss of the whole ring chromosome 22 including one NF2 gene due to mitotic instability constituted the likely first hit, while a point mutation in the other allele of the NF2 gene (c.784C>T, p.R262X) was shown as second hit. We review all cases from the literature and suggest clinical guidelines for surveillance of patients. NF2 Gene Record Summary; Interactions; Claims; NF2 4771 Clinically Actionable Drug Resistance. Alternate Names: 4771 NEUROFIBROMIN 2 NF2 ACN BANF SCH 607379 7773 ENSG00000186575 OTTHUMG00000030727 3870 merlin-1 P35240 Merlin Gene Info: Gene Biotype: PROTEIN_CODING

The nf2 gene is expressed in oocytes and in embryos through day 5 of development, while the nf2b message is detected only in oocytes (K.C.S., unpublished). Injecting embryos with a morpholino that is specific for the nf2message phenocopies the biliary phenotype observed in mutants from hi 3332 (see below) Gene resources for NF2. Ensembl ENSG00000186575 Curated. Ensembl region in detail Ensembl gene sequence. NCBI Gene 4771 Curated. UCSC uc003age.5. Alliance of Genome Resources HGNC:7773. Nucleotide resources for NF2. MANE Select NM_000268.4. ENST00000338641.10. INSDC L11353 Curated. ENA. View mouse Nf2 Chr11:4715845-4799536 with: phenotypes, sequences, polymorphisms, proteins, references, function, expressio NF2 is a rare genetic disorder that affects approximately 1/35,000 individuals globally. NF2 uniformly results in the growth of multiple tumours throughout the central and peripheral nervous systems, including schwannomas, meningiomas, and ependymomas. The cause of these tumours is a defect in the NF2 gene Meningiomas are the most common primary brain tumors in adults. Located within the layer of tissue covering the brain, these tumors are usually slow-growing and benign but can cause serious neurological complications. About half of these tumors have mutations in the neurofibromin 2 gene ( NF2 ). To identify other genes that contribute to meningioma pathogenesis, Clark et al. (p. [1077][1.

LARVOL VERI predictive biomarker news, NF2 (Neurofibromin 2) ^ Login. GENE: NF2 (Neurofibromin 2) i. Other names: NF2, Neurofibromin 2, Schwannomin, Merlin, SCH 2, Neurofibromin 2. The NF2 gene mutations that cause Neurofibromatosis Type 2 are classified as Germline, which means they are present in all of the body's cells. Most NF2 gene mutations result in an abnormally shortened version of the merlin protein. This short protein cannot perform its normal tumor suppressor function in cells

The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants). GENCODE basic, NF2-010: ENST00000361452.4: 5884: 549aa: ENSP00000354897. Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. The schwannomin (also termed merlin) protein encoded by the NF2 gene shows a close relationship to the family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins). Even though penetrance of the disease is >95% and no genetic heterogeneity has been described. Neurofibromatosis type 2 (NF2) is a genetic disorder that involves changes in the NF2 gene. This particular gene helps in the production of merlin (also called schwannomin), a protein that stops tumors from forming. The gene is located on chromosome 22. The main trait of NF2 is that noncancerous (benign) tumors grow on the nerves of the brain. The NF2 tumor-suppressor gene (MIM#101000) is the only gene known to be associated with NF2. Mutation scanning com-bined with gene-dosage analysis to identify deletions or duplications in single exons increases the mutation-detec-tion rate to nearly 72% in simplex cases and to more tha

Neurofibromatosis type 2 (NF2) is a multiple neoplasia syndrome and is caused by a mutation of the NF2 tumor suppressor gene that encodes for the tumor suppressor protein merlin. Biallelic NF2 gene inactivation results in the development of central nervous system tumors, including schwannomas, meningiomas, ependy-momas, and astrocytomas NF2 is inherited as an autosomal dominant condition, although half of affected individuals have NF2 as a result of a new (de novo) gene mutation. The manifestations of NF2 result from mutations in (or, rarely, deletion of) the NF2 gene, located on the long arm of chromosome 22. Affected individuals need only 1 mutated or deleted NF2 gene to. Neurofibromatosis type 2 (NF2) is a multiple neoplasia syndrome with an incidence of 1 in 25,000 live births ().It is the result of the mutation of the NF2 tumor suppressor gene that is on the long arm of chromosome 22 and can be inherited in an autosomal dominant manner. The NF2 gene encodes for the tumor suppressor protein merlin (69 kDa). Merlin indirectly regulates cellular pathways. NF2 is caused by loss of function mutations in the NF2 tumor suppressor gene on chromosome 22q. 4 Mutations in NF2 follow the 2-hit hypothesis, where the first constitutional hit can be different types of mutations from point mutations to large rearrangements, and the second hit in the tumor is frequently loss of heterozygosity Neurofibromatosis type 2 (NF2) is caused by a faulty gene. If the NF2 gene is faulty, it leads to uncontrolled growths (tumours) developing in the nervous system. In half of all cases of NF2, the faulty gene is passed from a parent to their child. Only one parent needs to have the faulty gene for their child to be at risk of developing the.

Inactivation of the NF2 tumor suppressor gene has been observed in certain benign and malignant tumors. Recent studies have demonstrated that merlin, the product of the NF2 gene, is regulated by Rac/PAK signaling. However, the mechanism by which merlin acts as a tumor suppressor has remained obscure. In this report, we show that adenovirus-mediated expression of merlin in NF2-deficient tumor. analyses had suggested that the responsible gene for NF2 was local ized on chromosome 22ql2, leading to the eventual cloning of the target gene (4, 5). The NF2 gene encodes a 595-amino acid protein, called schwannomin or merlin (for moesin-ezrin-radixin-like protein), that exhibits significant homology to a highly conserved family o NF2 BioSolutions: Gene Therapy and NF2 Neurofibromatosis type 2 (#NF2) is a serious genetic condition that results in eye issues and tumor growth. The NF2 condition is a result of damage to the NF2.. Gene-inactivating mutations in NF2 were found in meningiomas of all malignancy grades, suggesting that inactivation of this gene plays a role early in tumorigenesis. More aggressive tumor progression has been reported to be frequently associated with LOH on chromosomes 1p, 10, and 14q ( 21-24 )

Neurofibromatosis Type 2 - Stepwards

Neurofibromatosis type 2 (NF2) is a dominantly inherited tumour prone disorder characterised by the development of multiple schwannomas and meninigiomas [].The disease can be diagnosed when a pathogenic mutation in the NF2 gene is identified or when the criteria in table 1[] are fulfilled NF2 gene. Known as: NEUROFIBROMIN 2, SCHWANNOMIN, neurofibromin 2 (merlin). The loss of both wild-type copies of the NF2 tumor suppressor gene is common in the pathogenesis of both sporadic and NF2-related schwannomas [1], [2]. Although mutations in the NF2 gene have been reported in 53∼70% of sporadic VS (Neff et al., 2006), genetic alterations alone cannot explain the gene inactivation G. Rouleau u. a.: Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. In: Nature.1993; 363, S. 515-521. PMID 8379998; J. Sainz u. a.: High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons. In: Hum Mol Genet. 1995 Jan; 4(1), S. 137-139. PMID. Neurofibromatosis type 2 with mutations in the neurofibromin 2 (NF2) gene, encoding the Merlin protein, is an autosomal dominant disorder characterized by enhanced cancer predisposition, particularly tumors of the central nervous system. Recent animal studies indicate that disruption of NF2/Merlin function in oval cells, which are hepatic progenitor cells, may lead to the development of.

4771 - Gene ResultNF2 neurofibromin 2 [ (human)

  1. 2 neurofibromatosis type 2 More than 400 mutations in the NF2 gene have been identified in people with neurofibromatosis type 2, a disorder characterized by the growth of..
  2. Sequence variants and/or copy number variants (deletions/duplications) within the NF2 gene will be detected with >99% sensitivity. Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported. Benign and likely..
  3. 2 (NF2) gene is characterized by enhanced cancer predisposition. The gene encodes Merlin, a cytoNF2 - skeletal protein that also functions as a microtubule stabilizing protein (6). NF2 mutations have been identified in the majority of sporadic and NF2-associated schwannomas (7). NF2 is
  4. ant genetic disorder caused by mutations on chromosome 22.Patients usually have multiple Central Nervous System tumours; most typically a patient will be found to have bilateral Acoustic Neuromas (AKA Vestibular Schwannomas)
  5. (NF2) is less common than NF1. Approximately 50 percent of affected people inherit the abnormal gene (familial); in others the condition is caused by a spontaneous genetic mutation in the NF2 gene. Each child of an affected parent has a 50 percent chance inheriting the abnormal NF2 gene. Signs and symptoms of NF2 result from the development of
  6. gene: NF2 was added gene: NF2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NF2 were set to 29409008 Phenotypes for gene: NF2 were set to NEUROFIBROMATOSIS, TYPE II; NF2
What is NF? - NEUROFIBROMATOSIS ONTARIO

NF2 gene, harbored in the cytoband 22q11, was also identified to be frequently deleted in the samples of spinal schwannoma. The integrative analysis of the NF2 point mutations, InDels and copy number deletions revealed that CHG004880 and CHG004884 had bi-allelic mutations in NF2 , resulting in bi-allelic NF2 inactivation Neurofibromatosis type 2 is caused by a change in the NF2 gene located on chromosome 22. This gene encodes a protein known as merlin. Mutations in the NF2 gene disrupt the function of merlin, which is part of a complex molecular signaling pathway that regulates how cells grow and divide.. Inherited Mutations. All people have two copies of every gene - one copy inherited from each parent Background Neurofibromatosis 2 (NF2) is an autosomal-dominant tumour predisposition syndrome characterised by bilateral vestibular schwannomas, considerable morbidity and reduced life expectancy. Although genotype-phenotype correlations are well established in NF2, little is known about effects of mutation type or location within the gene on mortality Mutations of the NF2 gene have been described in sporadic meningiomas, exclusively in tumors that show loss of heterozygosity (LOH) of 22q. These preliminary results indicate that the NF2 gene is involved in the pathogenesis of at least a subset of meningiomas, where it does indeed behave as a tumor suppressor gene

Biallelic NF2 gene inactivation is common in sporadic and in neurofibromatosis type 2 (NF2)-related meningiomas. We show that, beginning at four months of age, thirty percent of mice with arachnoidal cell Cre-mediated excision of Nf2 exon 2 developed a range of meningioma subtypes histologically similar to the human tumors Symbol Description Category GIFtS GC id Score; 1: NF2: Neurofibromin 2: Protein Coding: 48: GC22P029603: 77.53: 2: SMARCB1: SWI/SNF Related, Matrix Associated, Actin. List of variants in gene NF2. Minimum submission review status: Collection method: Minimum conflict level: Report conflict between different conditions (NF2): c. 1739_1747del TCACCTTGC rs1060503674 NM_000268. 4 (NF2): c. *1007C>A. Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including NF1, NF2, SPRED1, SMARCB1, and LZTR1 genes on Ion Torrent. Together with NGS, the Multiplex Ligation-Dependent Probe Amplification Analysis (MLPA) method was performed to rule out.

The Goddard Family – NF2 BioSolutions

Gene: Nf2 OTTMUSG00000005071. Description. neurofibromatosis 2. Location. Chromosome 11: 4,765,845-4,849,536 reverse strand. About this gene. This gene has 13 transcripts (splice variants). Transcripts. Show transcript table Hide transcript table. Name Transcript ID bp Protein Translation ID Biotype CCDS UniProt Flags The following NF2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the NF2 cDNA ORF which is encoded by the open reading frame (ORF) sequence 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. Community Annotation of NF2 Add / Edit NF2: Annotation Abstract. Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the develop-ment of multiple tumors in the central nervous system. Recently, the NF2 gene has been cloned and found to encode a novel member of the protein 4.1 family which is thought to link integral membrane proteins to the cytoskeleton

NF2 is the second most common form of NF affecting 1 in every 25,000 - 40,000 people worldwide. WHAT CAUSES NF2? NF2 is a genetic condition caused by an alteration to the NF2 gene found on Chromosome 22. The NF2 gene is responsible for protecting cells from developing tumours, and as it is not functioning correctly, tumours can for All variants in the NF2 gene. The variants shown are described using the NM_000268.3 transcript reference sequence. Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column

NF2 is an autosomal dominant disorder with a frequency of 1:33-40,000 births in all populations. About 50% of patients are due to a de novo variant, where neither parent has signs of the disorder. The offspring of an affected individual have a 50% risk of inheriting the altered NF2 gene. NF2 is the only gene in which pathogenic variants are. The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants). GENCODE basic, NF2-004: ENST00000403435.1: 2568: 561aa: ENSP00000384029. Study to Evaluate VT3989 in Patients With Metastatic Solid Tumors Enriched for Tumors With NF2 Gene Mutations. The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government In NF2, patients have mutations in the NF2 gene, specifically with loss of function in a tumor-suppressor protein that has a number of synonymous names, including: Merlin, Neurofibromin 2, and schwannomin. Merlin is a 70 kDa protein that has 10 different isoforms

Can the diagnosis of NF1 be excluded clinically? A lack ofIJMS | Free Full-Text | The TEAD Family and Its Oncogenic