Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4771
Gene name Gene Name - the full gene name approved by the HGNC.
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NF2
Synonyms (NCBI Gene) Gene synonyms aliases
ACN, BANF, SCH, SWNV, merlin-1
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 assay, Microarray, qRT-PCR, Western blot 17220301
MIRT001853 hsa-let-7a-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 17220301
MIRT016579 hsa-miR-193b-3p Microarray 20304954
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607379 7773 ENSG00000186575
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Meningioma meningioma rs587776563, rs121434259 N/A
Neurofibromatosis Neurofibromatosis, type 2 rs1555994854, rs74315505, rs1555993345, rs1601613230, rs1555993313, rs121434259, rs1601643896, rs1569304774, rs794728682, rs1555993352, rs1601579095, rs1555978369, rs74315493, rs2065661533, rs878853925
View all (55 more)
N/A
Ependymoma ependymoma rs1555993293 N/A
neoplasm Neoplasm rs1569293373, rs1064796632 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer, Malignant tumor of breast N/A N/A GWAS, ClinVar
Choroid Plexus Carcinoma choroid plexus carcinoma N/A N/A ClinVar
hereditary cancer Hereditary cancer N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 35729665
Adrenocortical Carcinoma Associate 25490274
Astrocytoma Associate 25333347, 31822682
Behcet Syndrome Associate 37264476
Biliary Tract Neoplasms Associate 37341068
Brain Neoplasms Associate 24767714
Breast Neoplasms Inhibit 26908451
Breast Neoplasms Associate 28112165, 29893810, 35064101, 37080959, 7493911
Cafe au Lait Spots Stimulate 35729665
Calcinosis Cutis Associate 37131267