Gene Gene information from NCBI Gene database.
Entrez ID 4771
Gene name NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
Gene symbol NF2
Synonyms (NCBI Gene)
ACNBANFSCHSWNVmerlin-1
Chromosome 22
Chromosome 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-
SNPs SNP information provided by dbSNP.
81
SNP ID Visualize variation Clinical significance Consequence
rs74315492 T>C Pathogenic Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs74315493 T>C Pathogenic Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs74315494 A>C Pathogenic Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs74315495 G>T Pathogenic Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs74315496 C>T Pathogenic Stop gained, coding sequence variant, intron variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
1207
miRTarBase ID miRNA Experiments Reference
MIRT003573 hsa-miR-98-5p Review 19815577
MIRT001853 hsa-let-7a-5p Review 19815577
MIRT001853 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 17220301
MIRT001853 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 17220301
MIRT016579 hsa-miR-193b-3p Microarray 20304954
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
79
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0001707 Process Mesoderm formation IEA
GO:0001726 Component Ruffle IEA
GO:0001953 Process Negative regulation of cell-matrix adhesion TAS 17210637
GO:0003779 Function Actin binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607379 7773 ENSG00000186575
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35240
Protein name Merlin (Moesin-ezrin-radixin-like protein) (Neurofibromin-2) (Schwannomerlin) (Schwannomin)
Protein function 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 phosphor
PDB 1H4R , 3U8Z , 4ZRI , 4ZRJ , 6CDS , 7LWH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 26 87 FERM N-terminal domain Domain
PF00373 FERM_M 105 222 FERM central domain Domain
PF09380 FERM_C 226 315 FERM C-terminal PH-like domain Domain
PF00769 ERM 347 595 Ezrin/radixin/moesin family Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Isoform 1 and isoform 3 are predominant. Isoform 4, isoform 5 and isoform 6 are expressed moderately. Isoform 8 is found at low frequency. Isoform 7, isoform 9 and isoform 10 are not expressed in adult tissues, with t
Sequence
Sequence length 595
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hippo signaling pathway
Hippo signaling pathway - multiple species
Tight junction
  Regulation of actin dynamics for phagocytic cup formation
RHO GTPases activate PAKs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
39
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acoustic neuroma Likely pathogenic; Pathogenic rs587776562 RCV005251017
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer Likely pathogenic rs2065657938 RCV005910934
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangiocarcinoma Pathogenic rs2147053345, rs1555994854 RCV005924025
RCV005939437
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney Pathogenic; Likely pathogenic rs2146869427, rs1555993352 RCV005912643
RCV005925358
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autosomal dominant polycystic liver disease Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bilateral vestibular schwannoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 11380622, 12011146, 12646839, 15639530, 16436990, 16436992, 16857415, 17989580, 18199958, 18199961, 18839347, 19772601, 19943731, 20600642, 20729918
View all (28 more)
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acoustic Neuroma Acoustic Neuroma LHGDN 18173316
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acoustic Neuroma Acoustic Neuroma GENOMICS_ENGLAND_DG 23788249
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute leukemia Leukemia BEFREE 22081132
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11996670, 16142420
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 30282520
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 8741802
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 25490274 Associate
★☆☆☆☆
Found in Text Mining only
Amnesia, Transient Global Amnesia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 12761036
★☆☆☆☆
Found in Text Mining only