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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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Gene ID | 4771 |
Name | NF2 |
Synonym | ACN|BANF|SCH;neurofibromin 2 (merlin);NF2;neurofibromin 2 (merlin) |
Definition | merlin|moesin-ezrin-radixin like|moesin-ezrin-radixin-like protein|moesin-ezrin-radizin-like protein|neurofibromin 2 (bilateral acoustic neuroma)|neurofibromin-2|schwannomerlin|schwannomin |
Position | 22q12.2 |
Gene Type | protein-coding |
Source | Count: 4; Pubmed_search,TAG,Generif,UniProt |
Literature support | Count: 51 PubMed records as below. |
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Evidence Status |
Description |
reviewed | Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. |
potential | "A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor." |
reviewed | DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. |
reviewed | The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts. |
reviewed | "Unfurling of the band 4.1, ezrin, radixin, moesin (FERM) domain of the merlin tumor suppressor." |
reviewed | Loss of tumor suppressor Merlin in advanced breast cancer is due to post-translational regulation. |
reviewed | Multistep phosphorylation by oncogenic kinases enhances the degradation of the NF2 tumor suppressor merlin. |
reviewed | "Loss of the tumor suppressor gene NF2, encoding merlin, constitutively activates integrin-dependent mTORC1 signaling." |
reviewed | Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin. |
reviewed | "The neurofibromatosis 2 tumor suppressor gene product, merlin, regulates human meningioma cell growth by signaling through YAP." |
| More detail of all 51 literatures about NF2 | |
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Pathways and Diseases |
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Pathway | ErbB2/ErbB3 signaling events;PID Curated;200119 |
Disease | Neurofibromatosis;FunDO |
Disease | Polyneuropathy;FunDO |
Disease | Cancers;KEGG DISEASE |
Disease | Schwannomatosis;OMIM |
Disease | Cancers of the lung and pleura;KEGG DISEASE |
Disease | neurofibromatosis2;GAD |
Disease | CARDIOVASCULAR;GAD |
Disease | CANCER;GAD |
Disease | Neurofibromatosis, type 2;OMIM |
Disease | Spinal cord disease;FunDO |
Disease | Cancer;FunDO |
Disease | Neurofibromatosis type 2;GAD |
Disease | Meningioma, NF2-related, somatic;OMIM |
Disease | Carotid atherosclerosis in HIV infection;GAD |
Disease | Malignant pleural mesothelioma;KEGG DISEASE;H00015 |
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External Links |
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Links to Entrez Gene | 4771 |
Links to all GeneRIF Items | 4771 |
Links to iHOP | 4771 |
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Sequence Information |
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Nucleotide Sequence |
>4771 : length: 1788 atggccggggccatcgcttcccgcatgagcttcagctctctcaagaggaagcaacccaag acgttcaccgtgaggatcgtcaccatggacgccgagatggagttcaattgcgagatgaag tggaaagggaaggacctctttgatttggtgtgccggactctggggctccgagaaacctgg ttctttggactgcagtacacaatcaaggacacagtggcctggctcaaaatggacaagaag gtactggatcatgatgtttcaaaggaagaaccagtcacctttcacttcttggccaaattt tatcctgagaatgctgaagaggagctggttcaggagatcacacaacatttattcttctta caggtaaagaagcagattttagatgaaaagatctactgccctcctgaggcttctgtgctc ctggcttcttacgccgtccaggccaagtatggtgactacgaccccagtgttcacaagcgg ggatttttggcccaagaggaattgcttccaaaaagggtaataaatctgtatcagatgact ccggaaatgtgggaggagagaattactgcttggtacgcagagcaccgaggccgagccagg gatgaagctgaaatggaatatctgaagatagctcaggacctggagatgtacggtgtgaac tactttgcaatccggaataaaaagggcacagagctgctgcttggagtggatgccctgggg cttcacatttatgaccctgagaacagactgacccccaagatctccttcccgtggaatgaa atccgaaacatctcgtacagtgacaaggagtttactattaaaccactggataagaaaatt gatgtcttcaagtttaactcctcaaagcttcgtgttaataagctgattctccagctatgt atcgggaaccatgatctatttatgaggagaaggaaagccgattctttggaagttcagcag atgaaagcccaggccagggaggagaaggctagaaagcagatggagcggcagcgcctcgct cgagagaagcagatgagggaggaggctgaacgcacgagggatgagttggagaggaggctg ctgcagatgaaagaagaagcaacaatggccaacgaagcactgatgcggtctgaggagaca gctgacctgttggctgaaaaggcccagatcaccgaggaggaggcaaaacttctggcccag aaggccgcagaggctgagcaggaaatgcagcgcatcaaggccacagcgattcgcacggag gaggagaagcgcctgatggagcagaaggtgctggaagccgaggtgctggcactgaagatg gctgaggagtcagagaggagggccaaagaggcagatcagctgaagcaggacctgcaggaa gcacgcgaggcggagcgaagagccaagcagaagctcctggagattgccaccaagcccacg tacccgcccatgaacccaattccagcaccgttgcctcctgacataccaagcttcaacctc attggtgacagcctgtctttcgacttcaaagatactgacatgaagcggctttccatggag atagagaaagaaaaagtggaatacatggaaaagagcaagcatctgcaggagcagctcaat gaactcaagacagaaatcgaggccttgaaactgaaagagagggagacagctctggatatt ctgcacaatgagaactccgacaggggtggcagcagcaagcacaataccattaaaaagctc accttgcagagcgccaagtcccgagtggccttctttgaagagctctag |
Protein Sequence |
>4771 : length: 595 MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEMKWKGKDLFDLVCRTLGLRETW FFGLQYTIKDTVAWLKMDKKVLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFL QVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMT PEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALG LHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLC IGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRL LQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTE EEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPT YPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLN ELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKLTLQSAKSRVAFFEEL |