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NF2 neurofibromin 2 (merlin) [ Homo sapiens (human) ]

Gene ID: 4771, updated on 26-May-2016
Official Symbol
NF2provided by HGNC
Official Full Name
neurofibromin 2 (merlin)provided by HGNC
Primary source
HGNC:HGNC:7773
See related
Ensembl:ENSG00000186575 HPRD:06980; MIM:607379; Vega:OTTHUMG00000030727
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACN; SCH; BANF
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-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]
Orthologs
Location:
22q12.2
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (29603556..29698600)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29999545..30094589)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene THO complex 5 Neighboring gene nipsnap homolog 1 (C. elegans) Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 4 Neighboring gene calcium binding protein 7 Neighboring gene zinc finger matrin-type 5 Neighboring gene ubiquinol-cytochrome c reductase, complex III subunit X

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in NF2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Meningioma, familial
MedGen: C1333989 OMIM: 607174 GeneReviews: Not available
Compare labs
Neurofibromatosis, type 2
MedGen: C0027832 OMIM: 101000 GeneReviews: Neurofibromatosis 2
Compare labs
Schwannomatosis
MedGen: C1335929 OMIM: 162091 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study of carotid atherosclerosis in HIV-infected men.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of neurofibromin 2 (NF2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef-induced activation of p21-activated kinase 2 (PAK2) enhances merlin phosphorylation, a cellular substrate of PAK2 PubMed

Go to the HIV-1, Human Interaction Database

  • ErbB2/ErbB3 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ErbB2/ErbB3 signaling events, organism-specific biosystem
    ErbB2/ErbB3 signaling events
  • Hippo signaling, organism-specific biosystem (from KEGG)
    Hippo signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Hippo signaling, conserved biosystem (from KEGG)
    Hippo signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases activate PAKs, organism-specific biosystem (from REACTOME)
    RHO GTPases activate PAKs, organism-specific biosystemThe PAKs (p21-activated kinases) are a family of serine/threonine kinases mainly implicated in cytoskeletal rearrangements. All PAKs share a conserved catalytic domain located at the carboxyl terminu...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Schwann cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell junction organization IEA
Inferred from Electronic Annotation
more info
 
ectoderm development IEA
Inferred from Electronic Annotation
more info
 
hippocampus development IEA
Inferred from Electronic Annotation
more info
 
lens fiber cell differentiation IEA
Inferred from Electronic Annotation
more info
 
mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of JAK-STAT cascade IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell migration TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell-matrix adhesion TAS
Traceable Author Statement
more info
PubMed 
negative regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of tyrosine phosphorylation of Stat3 protein IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of tyrosine phosphorylation of Stat5 protein IDA
Inferred from Direct Assay
more info
PubMed 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of gliogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of hippo signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neural precursor cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
 
regulation of protein stability IEA
Inferred from Electronic Annotation
more info
 
regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
adherens junction IEA
Inferred from Electronic Annotation
more info
 
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
cell body IEA
Inferred from Electronic Annotation
more info
 
cleavage furrow IEA
Inferred from Electronic Annotation
more info
 
cortical actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of membrane IEA
Inferred from Electronic Annotation
more info
 
filopodium membrane IEA
Inferred from Electronic Annotation
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
protein complex IEA
Inferred from Electronic Annotation
more info
 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
merlin
Names
moesin-ezrin-radixin like
moesin-ezrin-radixin-like protein
moesin-ezrin-radizin-like protein
neurofibromin 2 (bilateral acoustic neuroma)
neurofibromin-2
schwannomerlin
schwannomin

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009057.1 RefSeqGene

    Range
    5001..100045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_511

mRNA and Protein(s)

  1. NM_000268.3NP_000259.1  merlin isoform 1

    See identical proteins and their annotated locations for NP_000259.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer predominant isoform (1).
    Source sequence(s)
    AC004882, AF369657, BC071653, CN419318
    Consensus CDS
    CCDS13861.1
    UniProtKB/Swiss-Prot
    P35240
    UniProtKB/TrEMBL
    A0A024R1J8
    Related
    ENSP00000344666, OTTHUMP00000028855, ENST00000338641, OTTHUMT00000075615
    Conserved Domains (6) summary
    smart00295
    Location:23222
    B41; Band 4.1 homologues
    pfam00769
    Location:347595
    ERM; Ezrin/radixin/moesin family
    pfam09379
    Location:26102
    FERM_N; FERM N-terminal domain
    pfam15458
    Location:321541
    NTR2; Nineteen complex-related protein 2
    cd13194
    Location:216312
    FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
    cd14473
    Location:114214
    FERM_B-lobe; FERM domain B-lobe
  2. NM_016418.5NP_057502.2  merlin isoform 2

    See identical proteins and their annotated locations for NP_057502.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2), one of the two predominant isoforms, has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC004882, AF369658, BC071653, CN419318
    Consensus CDS
    CCDS13862.1
    UniProtKB/Swiss-Prot
    P35240
    UniProtKB/TrEMBL
    A0A024R1J9
    Related
    ENSP00000354529, OTTHUMP00000199610, ENST00000361166, OTTHUMT00000322030
    Conserved Domains (6) summary
    smart00295
    Location:23222
    B41; Band 4.1 homologues
    pfam00769
    Location:347579
    ERM; Ezrin/radixin/moesin family
    pfam09379
    Location:26102
    FERM_N; FERM N-terminal domain
    pfam15458
    Location:321541
    NTR2; Nineteen complex-related protein 2
    cd13194
    Location:216312
    FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
    cd14473
    Location:114214
    FERM_B-lobe; FERM domain B-lobe
  3. NM_181825.2NP_861546.1  merlin isoform 2

    See identical proteins and their annotated locations for NP_861546.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) includes an alternate exon and differs in the 3' UTR, compared to variant 1. The resulting protein (isoform 2), one of the two predominant isoforms, has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF369701, CN419318
    Consensus CDS
    CCDS13862.1
    UniProtKB/Swiss-Prot
    P35240
    UniProtKB/TrEMBL
    A0A024R1J9
    Related
    ENSP00000384797, OTTHUMP00000199606, ENST00000403999, OTTHUMT00000322026
    Conserved Domains (6) summary
    smart00295
    Location:23222
    B41; Band 4.1 homologues
    pfam00769
    Location:347579
    ERM; Ezrin/radixin/moesin family
    pfam09379
    Location:26102
    FERM_N; FERM N-terminal domain
    pfam15458
    Location:321541
    NTR2; Nineteen complex-related protein 2
    cd13194
    Location:216312
    FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
    cd14473
    Location:114214
    FERM_B-lobe; FERM domain B-lobe
  4. NM_181828.2NP_861966.1  merlin isoform 5

    See identical proteins and their annotated locations for NP_861966.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region and includes an alternate exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 5, also referred to as isoform delE2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC004882, AF369658, AF369663, BC071653, CN419318
    Consensus CDS
    CCDS13863.1
    UniProtKB/Swiss-Prot
    P35240
    UniProtKB/TrEMBL
    A0A024R1I0
    Related
    ENSP00000355183, OTTHUMP00000199609, ENST00000361676, OTTHUMT00000322029
    Conserved Domains (5) summary
    smart00295
    Location:38180
    B41; Band 4.1 homologues
    pfam00769
    Location:305537
    ERM; Ezrin/radixin/moesin family
    pfam15458
    Location:279499
    NTR2; Nineteen complex-related protein 2
    cd13194
    Location:174270
    FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
    cd14473
    Location:72172
    FERM_B-lobe; FERM domain B-lobe
  5. NM_181829.2NP_861967.1  merlin isoform 6

    See identical proteins and their annotated locations for NP_861967.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon in the 5' coding region and includes an alternate exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 6, also referred to as isoform delE3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC004882, AF369664, BC071653, CF138178, CN419318
    Consensus CDS
    CCDS13864.1
    UniProtKB/Swiss-Prot
    P35240
    UniProtKB/TrEMBL
    A0A024R1F6
    Related
    ENSP00000354897, OTTHUMP00000199622, ENST00000361452, OTTHUMT00000322036
    Conserved Domains (6) summary
    smart00295
    Location:23181
    B41; Band 4.1 homologues
    pfam00769
    Location:306538
    ERM; Ezrin/radixin/moesin family
    pfam09379
    Location:2692
    FERM_N; FERM N-terminal domain
    pfam15458
    Location:280500
    NTR2; Nineteen complex-related protein 2
    cd13194
    Location:175271
    FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
    cd14473
    Location:81173
    FERM_B-lobe; FERM domain B-lobe
  6. NM_181830.2NP_861968.1  merlin isoform 7

    See identical proteins and their annotated locations for NP_861968.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two alternate in-frame exons in the 5' coding region and includes an alternate exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 7, also referred to as isoform delE2/3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC004882, AF369657, AF369665, BC071653, CN419318
    Consensus CDS
    CCDS13865.1
    UniProtKB/Swiss-Prot
    P35240
    UniProtKB/TrEMBL
    A0A024R1D9
    Related
    ENSP00000340626, OTTHUMP00000199608, ENST00000353887, OTTHUMT00000322028
    Conserved Domains (5) summary
    smart00295
    Location:37139
    B41; Band 4.1 homologues
    pfam00769
    Location:264496
    ERM; Ezrin/radixin/moesin family
    pfam15458
    Location:238458
    NTR2; Nineteen complex-related protein 2
    cd13194
    Location:133229
    FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
    cd14473
    Location:39131
    FERM_B-lobe; FERM domain B-lobe
  7. NM_181831.2NP_861969.1  merlin isoform 7

    See identical proteins and their annotated locations for NP_861969.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) lacks two alternate in-frame exons in the 5' coding region and differs in the 3' coding region and UTR, compared to variant 1. The resulting protein (isoform 7, also referred to as isoform delE2/3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF369657, BC003112, CN419318
    Consensus CDS
    CCDS13865.1
    UniProtKB/Swiss-Prot
    P35240
    UniProtKB/TrEMBL
    A0A024R1D9
    Related
    ENSP00000335652, OTTHUMP00000199611, ENST00000334961, OTTHUMT00000322031
    Conserved Domains (5) summary
    smart00295
    Location:37139
    B41; Band 4.1 homologues
    pfam00769
    Location:264496
    ERM; Ezrin/radixin/moesin family
    pfam15458
    Location:238458
    NTR2; Nineteen complex-related protein 2
    cd13194
    Location:133229
    FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
    cd14473
    Location:39131
    FERM_B-lobe; FERM domain B-lobe
  8. NM_181832.2NP_861970.1  merlin isoform 2

    See identical proteins and their annotated locations for NP_861970.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) includes an alternate exon, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2), one of the two predominant isoforms, has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC004882, AF369668, BC071653, CF138178, CN419318
    Consensus CDS
    CCDS13862.1
    UniProtKB/Swiss-Prot
    P35240
    UniProtKB/TrEMBL
    A0A024R1J9
    Related
    ENSP00000380891, OTTHUMP00000199621, ENST00000397789, OTTHUMT00000322035
    Conserved Domains (6) summary
    smart00295
    Location:23222
    B41; Band 4.1 homologues
    pfam00769
    Location:347579
    ERM; Ezrin/radixin/moesin family
    pfam09379
    Location:26102
    FERM_N; FERM N-terminal domain
    pfam15458
    Location:321541
    NTR2; Nineteen complex-related protein 2
    cd13194
    Location:216312
    FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
    cd14473
    Location:114214
    FERM_B-lobe; FERM domain B-lobe
  9. NM_181833.2NP_861971.1  merlin isoform 8

    See identical proteins and their annotated locations for NP_861971.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks several alternate in-frame exons, compared to variant 1. The resulting protein (isoform 8, also referred to as isoform Mer162) is shorter than isoform 1.
    Source sequence(s)
    AC004882, AF122827, BC071653, CF138178, CN419318
    Consensus CDS
    CCDS54516.1
    UniProtKB/Swiss-Prot
    P35240
    Related
    ENSP00000409921, ENST00000413209
    Conserved Domains (3) summary
    smart00295
    Location:23150
    B41; Band 4.1 homologues
    pfam09379
    Location:26102
    FERM_N; FERM N-terminal domain
    cd14473
    Location:114150
    FERM_B-lobe; FERM domain B-lobe

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

    Range
    29603556..29698600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    29958840..30053867
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_181826.1: Suppressed sequence

    Description
    NM_181826.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_181827.1: Suppressed sequence

    Description
    NM_181827.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_181834.1: Suppressed sequence

    Description
    NM_181834.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  4. NM_181835.1: Suppressed sequence

    Description
    NM_181835.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.