KEGG   Homo sapiens (human): 4771
Entry
4771              CDS       T01001                                 

Gene name
NF2, ACN, BANF, SCH, merlin-1
Definition
(RefSeq) neurofibromin 2
  KO
K16684  merlin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04390  Hippo signaling pathway
hsa04392  Hippo signaling pathway - multiple species
hsa04530  Tight junction
Disease
H00015  Malignant pleural mesothelioma
H01438  Neurofibromatosis type 2
H01556  Meningioma
H01667  Medulloblastoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04390 Hippo signaling pathway
    4771 (NF2)
   04392 Hippo signaling pathway - multiple species
    4771 (NF2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04530 Tight junction
    4771 (NF2)
SSDB
Motif
Pfam: ERM FERM_C FERM_M FERM_N
Other DBs
NCBI-GeneID: 4771
NCBI-ProteinID: NP_000259
OMIM: 607379
HGNC: 7773
Ensembl: ENSG00000186575
Vega: OTTHUMG00000030727
Pharos: P35240(Tbio)
UniProt: P35240 A0A024R1J8
Structure
PDB: 
1H4R 4ZRJ 6CDS 3U8Z 4ZRI

Position
22q12.2
AA seq 595 aa
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEMKWKGKDLFDLVCRTLGLRETW
FFGLQYTIKDTVAWLKMDKKVLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFL
QVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMT
PEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALG
LHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLC
IGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRL
LQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTE
EEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPT
YPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLN
ELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKLTLQSAKSRVAFFEEL
NT seq 1788 nt   +upstreamnt  +downstreamnt
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

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (8)   
   KEGG DISEASE (4)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (14)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (100)   
   RefSeq(nuc) (16)   
   GenBank (42)   
   EMBL (42)   
Protein domain (4)   
   Pfam (4)   
All databases (149)   

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