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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
NF2 4771 neurofibromin 2 (merlin)  22merlin 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
7497438   1995Cell line : -

Source : Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston; and Harvard Medical School, Boston, Massachusetts.

Sample Type : CRC tumor and adjacent normal tissue

No. of Sample : 24

Stage : Dukes stages A, B, C, D

SSSCP Mutation-NF2 gene is probably involved in some colorectal tumors, but is not the critical chromosome 22q tumor suppressor gene involved in colon tumorigenesis.

24323642   2014Cell line : -

Source : Croatian Tumour Bank and Human Tumour Bank.

Sample Type : -

No. of Sample : -

Stage : -

 LOH analysis,qRT-PCR,immunohistochemistry and Western blotting.Mutation-NF2/Merlin may serve as a potential target in the management of colorectal cancer.


Gene Details



NC_000022.10 (29999545..30094589)

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Gene Type protein coding
Gene Family A-kinase anchor proteins
Description 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]  
Chromosome 22
Location 22q12.2
Start 29999545  
End 30094589  
Strand +  
Gene Sequence

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Length 95045  
OMIM ID 607379   
HGNC ID HGNC:7773   
Unigene ID Hs.187898   
Ensembl ID ENSG00000186575   
PharmGKB ID PA31580   

mRNA Information


mRNA ID NM_181832.2
Exon join(1..557,33196..33321,35535..35657,38647..38730, 51102..51170,52039..52121,54634..54709,57650..57784, 61435..61509,64778..64891,68271..68393,69714..69931, 71281..71386,74641..74768,77884..78046,79465..79524, 91197..95045)  
mRNA Sequence

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Length 6106  



CDS Information


   
Location444..2216
CDS Sequence

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CCDS ID CCDS13861.1



Protein Information


      
Protein IDNP_861970.1
Protein Nameneurofibromin 2 (merlin)
Molecular Wt. (Da)76930
Protein Sequence

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Length 590  
Uniprot IDP50552
Ensembl Protein ID ENSP00000245932  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation518
SPhosphorylation518
SPhosphorylation518
SPhosphorylation518
SPhosphorylation476
SPhosphorylation477
SPhosphorylation435
SPhosphorylation435
SPhosphorylation518;-
SPhosphorylation518;-
SPhosphorylation518;-
SPhosphorylation518;-
SPhosphorylation476;-
SPhosphorylation477;-
SPhosphorylation435;-
SPhosphorylation435;-
TPhosphorylation477
TPhosphorylation477
TPhosphorylation477
TPhosphorylation477
TPhosphorylation435
TPhosphorylation436
TPhosphorylation394
TPhosphorylation394

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                                                                                                                                 
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
960CD44115NP_000601.3in vitro;in vivo12356905   
1499CTNNB1286NP_001895.1in vitro12695331   
2064ERBB21281NP_004439.2in vitro;in vivo12118253   
3688ITGB1628NP_391987.1in vitro;in vivo12118253   
5829PXN3937BAA18998.1in vitro12118253   
5900RALGDS3371NP_006257.1in vitro;in vivo;yeast 2-hybrid16007223   
6386SDCBP3741NP_005616.2in vitro;in vivo;yeast 2-hybrid11432873   
6711SPTBN11683NP_003119.2in vitro;in vivo;yeast 2-hybrid11535133   
6895TARBP25446NP_599150.1in vitro;in vivo15123692   
7248TSC15594NP_000359.1in vivo12226091   
7430EZR475NP_003370.2in vitro;in vivo10036239   
7514XPO13975NP_003391.1in vitro;in vivo12217955   
9146HGS5085NP_004703.1in vitro;in vivo;yeast 2-hybrid1   086   128   311   285   240   
9368SLC9A3R15406NP_004243.1in vitro;in vivo;yeast 2-hybrid9430655   
9730VPRBP11674NP_055518.1in vivo18332868   


Pathway Information


      
Pathway Name Pathway ID
Hippo signaling pathway hsa04390


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd13194216-312  FERM_C_ERM
cl17171216-312  PH-like superfamily
cd14473114-214  FERM_B-lobe
cl09511114-214  FERM_B-lobe superfamily
pfam00373109-222  FERM_M
pfam09380226-312  FERM_C
pfam0937926-102  FERM_N
cl0963026-102  FERM_N superfamily
cd00836218-308  FERM_C-lobe
cd13191218-313  FERM_C_FRMD4A_FRMD4B
cd13189216-307  FERM_C_PTPN4_PTPN3_like
cd13184217-307  FERM_C_4_1_family
cd13192203-282  FERM_C_FRMD3_FRMD5
cd13188217-309  FERM_C_PTPN14_PTPN21
cd13185225-309  FERM_C_FRMD1_FRMD6
cd13187218-313  FERM_C_PTPH13
cd13195217-274  FERM_C_MYLIP_IDOL
cd13193210-274  FERM_C_FARP1-like
pfam15458321-541  NTR2
cl21276321-541  NTR2 superfamily
cd10019334-487  14-3-3_sigma
cl02098334-487  14-3-3 superfamily
smart0029523-222  B41
pfam00769347-595  ERM
PRK09510319-478  tolA
PTZ00121310-555  PTZ00121
COG3064318-465  TolA
PTZ00121310-471  PTZ00121
PRK09510309-471  tolA
PRK09510308-478  tolA
TIGR02168317-478  SMC_prok_B
COG4372312-478  COG4372
COG3064316-474  TolA
TIGR02169309-566  SMC_prok_A
PTZ00121310-555  PTZ00121
COG3064309-478  TolA
PTZ00121305-568  PTZ00121
TIGR02794315-471  tolA_full
PTZ00121310-470  PTZ00121
PRK12704310-469  PRK12704
pfam04094314-474  DUF390
TIGR02794310-470  tolA_full
PTZ00121310-471  PTZ00121
TIGR02168322-475  SMC_prok_B
TIGR02168317-469  SMC_prok_B
PRK09510317-474  tolA
TIGR03319307-469  RNase_Y
TIGR02168302-563  SMC_prok_B
COG1196310-564  Smc
PTZ00121311-555  PTZ00121
PTZ00121310-555  PTZ00121
PRK02224309-480  PRK02224
PTZ00121310-478  PTZ00121
COG1196329-555  Smc
TIGR02168316-475  SMC_prok_B
COG1196307-561  Smc
pfam13514316-475  AAA_27
PTZ00121315-555  PTZ00121
PRK10929313-472  PRK10929
pfam05262314-478  Borrelia_P83
PTZ00121310-471  PTZ00121
COG1196305-555  Smc
PRK12705295-468  PRK12705
COG1196309-550  Smc
TIGR02168310-555  SMC_prok_B
COG4372318-470  COG4372
PTZ00121310-470  PTZ00121
COG2268317-476  YqiK
pfam07111312-472  HCR
COG1196287-478  Smc
TIGR02168306-478  SMC_prok_B
TIGR02794309-471  tolA_full
PRK05035309-488  PRK05035
COG1196310-477  Smc
pfam09726332-477  Macoilin
PRK02224336-475  PRK02224
TIGR02680312-559  TIGR02680
PTZ00491320-451  PTZ00491
COG1196328-579  Smc
PRK07735303-478  PRK07735
COG1196317-556  Smc
pfam05672326-470  MAP7
PTZ00121317-555  PTZ00121
TIGR02169317-459  SMC_prok_A
TIGR02680309-493  TIGR02680
TIGR02168273-474  SMC_prok_B
pfam12128310-474  DUF3584
pfam09731263-468  Mitofilin
TIGR02169316-476  SMC_prok_A
pfam13514310-580  AAA_27
COG2268317-474  YqiK
COG4942309-486  EnvC
COG0419317-595  SbcC
pfam07111318-534  HCR
pfam13514328-478  AAA_27
pfam13514304-478  AAA_27
TIGR02169308-478  SMC_prok_A
PRK02224347-476  PRK02224
COG1842318-470  PspA
pfam05914306-479  RIB43A
pfam05262311-464  Borrelia_P83
TIGR02169323-474  SMC_prok_A
pfam13868311-465  Trichoplein
pfam07111305-475  HCR
TIGR02169310-554  SMC_prok_A
pfam05917344-474  DUF874
pfam05701316-461  WEMBL
pfam05557316-475  MAD
pfam07888304-471  CALCOCO1
COG4942328-473  EnvC
PRK02224314-475  PRK02224
PLN03086307-367  PLN03086
TIGR04211345-467  SH3_and_anchor
TIGR02680305-474  TIGR02680
pfam05262311-468  Borrelia_P83
pfam09756319-408  DDRGK
COG5281304-476  COG5281
PRK00409313-445  PRK00409
pfam07227310-447  DUF1423
pfam07111315-480  HCR
COG0419309-474  SbcC
COG0419310-565  SbcC
TIGR02168316-475  SMC_prok_B
pfam07767337-479  Nop53
COG5022276-581  COG5022
TIGR02794337-479  tolA_full
TIGR02971317-454  heterocyst_DevB
TIGR03346354-473  chaperone_ClpB
TIGR02680313-468  TIGR02680
COG1196310-424  Smc
PRK05759325-414  PRK05759
PRK02224310-565  PRK02224
PRK09510359-471  tolA
COG3170318-476  FimV
pfam02463302-555  SMC_N
pfam00261322-463  Tropomyosin
pfam13868310-478  Trichoplein
PRK10811317-493  rne
COG5281316-474  COG5281
COG4372308-496  COG4372
COG5281312-464  COG5281
PTZ00266308-379  PTZ00266
TIGR01843302-456  type_I_hlyD
COG5281310-470  COG5281
PRK11448336-433  hsdR
pfam05557285-475  MAD
TIGR02680310-477  TIGR02680
TIGR02680309-466  TIGR02680
TIGR02169308-464  SMC_prok_A
PRK07352355-474  PRK07352
COG5283317-477  COG5283
COG3109372-526  ProQ
PRK02224310-465  PRK02224
pfam12128297-477  DUF3584
COG3064386-471  TolA
TIGR02680305-455  TIGR02680
pfam12037317-445  DUF3523
pfam02994343-475  Transposase_22
TIGR03345323-437  VI_ClpV1
pfam02463310-474  SMC_N
pfam00529279-522  HlyD
pfam02029327-555  Caldesmon
COG4942314-490  EnvC
COG0419322-569  SbcC
COG0419310-471  SbcC
pfam13868309-474  Trichoplein
COG1196310-474  Smc
PRK03918317-550  PRK03918


Ontology Information


   
HPRD ID1888
Molecular ClassCytoskeletal associated protein
Molecular FunctionCell adhesion molecule activity (GO:0005194)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO