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    NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [ Homo sapiens (human) ]

    Gene ID: 4771, updated on 7-Apr-2024

    Summary

    Official Symbol
    NF2provided by HGNC
    Official Full Name
    NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressorprovided by HGNC
    Primary source
    HGNC:HGNC:7773
    See related
    Ensembl:ENSG00000186575 MIM:607379; AllianceGenome:HGNC:7773
    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; SWNV; merlin-1
    Summary
    This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded protein is involved in regulation of contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling. The encoded protein has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics, and proteins involved in regulating ion transport. Disruption of this protein's function has been implicated in tumorigenesis and metastasis. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. [provided by RefSeq, May 2022]
    Expression
    Ubiquitous expression in testis (RPKM 5.3), brain (RPKM 5.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    22q12.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29603556..29698600)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30066918..30161963)
    105.20220307 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 subunit 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29947869-29948568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29949966-29950663 Neighboring gene nipsnap homolog 1 Neighboring gene Sharpr-MPRA regulatory region 2653 Neighboring gene Sharpr-MPRA regulatory region 10387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29976263-29976875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13595 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:30002345-30002866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30009952-30010452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30026831-30027330 Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30084213-30084714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30084715-30085214 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:30085434-30085934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30087218-30087838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30087839-30088460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30088461-30089081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30101159-30101822 Neighboring gene MPRA-validated peak4478 silencer Neighboring gene CABP7 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30117301-30118091 Neighboring gene calcium binding protein 7 Neighboring gene zinc finger matrin-type 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-09-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-09-08)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Schwann cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-cell junction organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ectoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens fiber cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Schwann cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell-matrix adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of tyrosine phosphorylation of STAT protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of early endosome to late endosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of protein localization to early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of gliogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of hippo signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of hippo signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of neural precursor cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of organelle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of protein localization to nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein stability IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in apical part of cell IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cleavage furrow IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cortical actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in filopodium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in filopodium membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    merlin
    Names
    bilateral acoustic neurofibromatosis
    moesin-ezrin-radixin like
    moesin-ezrin-radixin-like protein
    moesin-ezrin-radizin-like protein
    neurofibromin 2 (bilateral acoustic neuroma)
    neurofibromin-2
    schwannomerlin
    schwannomin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000268.4NP_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 longest isoform (1).
      Source sequence(s)
      AC004882, AF369657
      Consensus CDS
      CCDS13861.1
      UniProtKB/Swiss-Prot
      O95683, P35240, Q8WUJ2, Q969N0, Q969Q3, Q96T30, Q96T31, Q96T32, Q96T33, Q9BTW3, Q9UNG9, Q9UNH3, Q9UNH4
      UniProtKB/TrEMBL
      B7Z4B6
      Related
      ENSP00000344666.5, ENST00000338641.10
      Conserved Domains (4) summary
      PLN03086
      Location:307367
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347595
      ERM; Ezrin/radixin/moesin family
    2. NM_001407053.1NP_001393982.1  merlin isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
      Conserved Domains (4) summary
      PLN03086
      Location:269329
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:1184
      B41; Band 4.1 homologues
      cd13194
      Location:178274
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:308557
      ERM; Ezrin/radixin/moesin family
    3. NM_001407054.1NP_001393983.1  merlin isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    4. NM_001407055.1NP_001393984.1  merlin isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    5. NM_001407056.1NP_001393985.1  merlin isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    6. NM_001407057.1NP_001393986.1  merlin isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
      UniProtKB/TrEMBL
      A0A5K1VW66
      Related
      ENSP00000354529.6, ENST00000361166.10
      Conserved Domains (4) summary
      PLN03086
      Location:262322
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      pfam00769
      Location:301550
      ERM; Ezrin/radixin/moesin family
      cl17171
      Location:216267
      PH-like; Pleckstrin homology-like domain
    7. NM_001407058.1NP_001393987.1  merlin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    8. NM_001407059.1NP_001393988.1  merlin isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    9. NM_001407060.1NP_001393989.1  merlin isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    10. NM_001407062.1NP_001393991.1  merlin isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    11. NM_001407063.1NP_001393992.1  merlin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    12. NM_001407064.1NP_001393993.1  merlin isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    13. NM_001407065.1NP_001393994.1  merlin isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    14. NM_001407066.1NP_001393995.1  merlin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
      Related
      ENSP00000500919.1, ENST00000672461.1
    15. NM_001407067.1NP_001393996.1  merlin isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529
    16. 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/TrEMBL
      B7Z4B6
      Related
      ENSP00000500117.1, ENST00000672896.1
      Conserved Domains (4) summary
      PLN03086
      Location:307367
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347579
      ERM; Ezrin/radixin/moesin family
    17. NM_181825.3NP_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
      Consensus CDS
      CCDS13862.1
      UniProtKB/TrEMBL
      B7Z4B6
      Related
      ENSP00000384797.3, ENST00000403999.7
      Conserved Domains (4) summary
      PLN03086
      Location:307367
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347579
      ERM; Ezrin/radixin/moesin family
    18. NM_181828.3NP_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
      Consensus CDS
      CCDS13863.1
      UniProtKB/TrEMBL
      B7Z4B6
      Related
      ENSP00000355183.4, ENST00000361676.8
      Conserved Domains (4) summary
      PLN03086
      Location:265325
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:38180
      B41; Band 4.1 homologues
      cd13194
      Location:174270
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:305537
      ERM; Ezrin/radixin/moesin family
    19. NM_181829.3NP_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, CF138178, CN419318
      Consensus CDS
      CCDS13864.1
      UniProtKB/TrEMBL
      B7Z4B6
      Related
      ENSP00000354897.4, ENST00000361452.8
      Conserved Domains (4) summary
      PLN03086
      Location:266326
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23181
      B41; Band 4.1 homologues
      cd13194
      Location:175271
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:306538
      ERM; Ezrin/radixin/moesin family
    20. NM_181830.3NP_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
      Consensus CDS
      CCDS13865.1
      Related
      ENSP00000340626.4, ENST00000353887.8
      Conserved Domains (5) summary
      PLN03086
      Location:224284
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:37139
      B41; Band 4.1 homologues
      cd13194
      Location:133229
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:264496
      ERM; Ezrin/radixin/moesin family
      cl28922
      Location:2041
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
    21. NM_181831.3NP_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)
      AC004882, AF369657, BC003112
      Consensus CDS
      CCDS13865.1
      Related
      ENSP00000335652.7, ENST00000334961.11
      Conserved Domains (5) summary
      PLN03086
      Location:224284
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:37139
      B41; Band 4.1 homologues
      cd13194
      Location:133229
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:264496
      ERM; Ezrin/radixin/moesin family
      cl28922
      Location:2041
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
    22. NM_181832.3NP_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, CF138178, CN419318
      Consensus CDS
      CCDS13862.1
      UniProtKB/TrEMBL
      B7Z4B6
      Related
      ENSP00000380891.3, ENST00000397789.3
      Conserved Domains (4) summary
      PLN03086
      Location:307367
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:23222
      B41; Band 4.1 homologues
      cd13194
      Location:216312
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347579
      ERM; Ezrin/radixin/moesin family
    23. NM_181833.3NP_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, CF138178, CN419318
      Consensus CDS
      CCDS54516.1
      UniProtKB/Swiss-Prot
      P35240
      Related
      ENSP00000409921.2, ENST00000413209.6
      Conserved Domains (2) summary
      cd17186
      Location:20103
      FERM_F1_Merlin; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in merlin and similar proteins
      pfam00373
      Location:109148
      FERM_M; FERM central domain

    RNA

    1. NR_176267.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004882, AC005529

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047441386.1XP_047297342.1  merlin isoform X2

    2. XM_017028809.3XP_016884298.1  merlin isoform X1

      UniProtKB/TrEMBL
      B7Z4B6
      Conserved Domains (4) summary
      PLN03086
      Location:269329
      PLN03086; PRLI-interacting factor K; Provisional
      smart00295
      Location:1184
      B41; Band 4.1 homologues
      cd13194
      Location:178274
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:308557
      ERM; Ezrin/radixin/moesin family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      30066918..30161963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325658.1XP_054181633.1  merlin isoform X2

    2. XM_054325657.1XP_054181632.1  merlin isoform X1

    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.