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

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: mouse all
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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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical and genomic differences in supratentorial versus infratentorial NF2 mutant meningiomas.
Title: Clinical and genomic differences in supratentorial versus infratentorial NF2 mutant meningiomas.
Meningiomas in patients with neurofibromatosis type 2 predominantly comprise 'immunogenic subtype' tumours characterised by macrophage infiltration.
Title: Meningiomas in patients with neurofibromatosis type 2 predominantly comprise 'immunogenic subtype' tumours characterised by macrophage infiltration.
Proteasomal pathway inhibition as a potential therapy for NF2-associated meningioma and schwannoma.
Title: Proteasomal pathway inhibition as a potential therapy for NF2-associated meningioma and schwannoma.
Comprehensive Genomic Profiling of NF2-Mutated Kidney Tumors Reveals Potential Targets for Therapy.
Title: Comprehensive Genomic Profiling of NF2-Mutated Kidney Tumors Reveals Potential Targets for Therapy.
Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.
Title: Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.
The emerging role of NF2 alterations in new and established subtypes of renal cell carcinoma.
Title: The emerging role of NF2 alterations in new and established subtypes of renal cell carcinoma.
NF2 mutations are associated with resistance to radiation therapy for grade 2 and grade 3 recurrent meningiomas.
Title: NF2 mutations are associated with resistance to radiation therapy for grade 2 and grade 3 recurrent meningiomas.
Merlin tumor suppressor function is regulated by PIP2-mediated dimerization.
Title: Merlin tumor suppressor function is regulated by PIP2-mediated dimerization.
Merlin immunohistochemistry is useful in diagnosis of tumours within the spectrum of biphasic hyalinizing psammomatous renal cell carcinoma.
Title: Merlin immunohistochemistry is useful in diagnosis of tumours within the spectrum of biphasic hyalinizing psammomatous renal cell carcinoma.
NF2 Gene Participates in Regulation of the Cell Cycle of Meningiomas by Restoring Spindle Assembly Checkpoint Function and Inhibiting the Binding of Cdc20 Protein to Anaphase Promoting Complex/Cyclosome.
Title: NF2 Gene Participates in Regulation of the Cell Cycle of Meningiomas by Restoring Spindle Assembly Checkpoint Function and Inhibiting the Binding of Cdc20 Protein to Anaphase Promoting Complex/Cyclosome.

Submit: New GeneRIF Correction See all GeneRIFs (236)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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
Familial meningioma MedGen: C3551915 OMIM: 607174 GeneReviews: MN1 C-Terminal Truncation Syndrome	Compare labs
Neurofibromatosis, type 2 MedGen: C0027832 OMIM: 101000 GeneReviews: NF2-Related Schwannomatosis	Compare labs

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D22S929 (e-PCR)
- UniSTS:150281

D11S2921 (e-PCR)
- UniSTS:152074

GDB:312714 (e-PCR)
- UniSTS:156429

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

STS-L11353 (e-PCR)
- UniSTS:63028

GDB:361675 (e-PCR)
- UniSTS:156745

GDB:361678 (e-PCR)
- UniSTS:156746

GDB:361681 (e-PCR)
- UniSTS:156747

GDB:361684 (e-PCR)
- UniSTS:156748

GDB:361687 (e-PCR)
- UniSTS:156749

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

Nf2 (e-PCR), detects polymorphism
- UniSTS:144001

RH27831 (e-PCR)
- UniSTS:85656

SHGC-30811 (e-PCR)
- UniSTS:25292

GDB:342145 (e-PCR)
- UniSTS:156635

WI-12398 (e-PCR)
- UniSTS:18401

GDB:373334 (e-PCR)
- UniSTS:156899

GDB:373359 (e-PCR)
- UniSTS:156900

GDB:373365 (e-PCR)
- UniSTS:156901

A007D33 (e-PCR)
- UniSTS:11494

GDB:373372 (e-PCR)
- UniSTS:156902

GDB:373379 (e-PCR)
- UniSTS:156903

GDB:373387 (e-PCR)
- UniSTS:156904

GDB:373398 (e-PCR)
- UniSTS:156905

RH103956 (e-PCR)
- UniSTS:98281

GDB:373405 (e-PCR)
- UniSTS:156906

GDB:373416 (e-PCR)
- UniSTS:156907

GDB:373421 (e-PCR)
- UniSTS:156908

GDB:373633 (e-PCR)
- UniSTS:156912

GDB:373637 (e-PCR)
- UniSTS:156913

GDB:373641 (e-PCR)
- UniSTS:156914

GDB:373645 (e-PCR)
- UniSTS:156915

GDB:373650 (e-PCR)
- UniSTS:156916

GDB:373653 (e-PCR)
- UniSTS:156917

GDB:373656 (e-PCR)
- UniSTS:156918

GDB:373660 (e-PCR)
- UniSTS:156919

GDB:373663 (e-PCR)
- UniSTS:156920

GDB:373673 (e-PCR)
- UniSTS:156921

GDB:373677 (e-PCR)
- UniSTS:156922

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 more info	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

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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)

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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

NG_009057.1 RefSeqGene

Range

5001..100045

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_511

mRNA and Protein(s)

NM_000268.4 → NP_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:307 → 367

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 222

B41; Band 4.1 homologues

cd13194
Location:216 → 312

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 595

ERM; Ezrin/radixin/moesin family
NM_001407053.1 → NP_001393982.1 merlin isoform 9

Status: REVIEWED

Source sequence(s)

AC004882, AC005529

Conserved Domains (4) summary

PLN03086
Location:269 → 329

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:1 → 184

B41; Band 4.1 homologues

cd13194
Location:178 → 274

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:308 → 557

ERM; Ezrin/radixin/moesin family
NM_001407054.1 → NP_001393983.1 merlin isoform 10

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_001407055.1 → NP_001393984.1 merlin isoform 11

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_001407056.1 → NP_001393985.1 merlin isoform 12

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_001407057.1 → NP_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:262 → 322

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 222

B41; Band 4.1 homologues

pfam00769
Location:301 → 550

ERM; Ezrin/radixin/moesin family

cl17171
Location:216 → 267

PH-like; Pleckstrin homology-like domain
NM_001407058.1 → NP_001393987.1 merlin isoform 6

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_001407059.1 → NP_001393988.1 merlin isoform 14

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_001407060.1 → NP_001393989.1 merlin isoform 15

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_001407062.1 → NP_001393991.1 merlin isoform 17

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_001407063.1 → NP_001393992.1 merlin isoform 7

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_001407064.1 → NP_001393993.1 merlin isoform 18

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_001407065.1 → NP_001393994.1 merlin isoform 19

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_001407066.1 → NP_001393995.1 merlin isoform 2

Status: REVIEWED

Source sequence(s)

AC004882, AC005529

Related

ENSP00000500919.1, ENST00000672461.1
NM_001407067.1 → NP_001393996.1 merlin isoform 16

Status: REVIEWED

Source sequence(s)

AC004882, AC005529
NM_016418.5 → NP_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:307 → 367

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 222

B41; Band 4.1 homologues

cd13194
Location:216 → 312

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 579

ERM; Ezrin/radixin/moesin family
NM_181825.3 → NP_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:307 → 367

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 222

B41; Band 4.1 homologues

cd13194
Location:216 → 312

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 579

ERM; Ezrin/radixin/moesin family
NM_181828.3 → NP_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:265 → 325

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:38 → 180

B41; Band 4.1 homologues

cd13194
Location:174 → 270

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:305 → 537

ERM; Ezrin/radixin/moesin family
NM_181829.3 → NP_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:266 → 326

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 181

B41; Band 4.1 homologues

cd13194
Location:175 → 271

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:306 → 538

ERM; Ezrin/radixin/moesin family
NM_181830.3 → NP_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:224 → 284

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:37 → 139

B41; Band 4.1 homologues

cd13194
Location:133 → 229

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:264 → 496

ERM; Ezrin/radixin/moesin family

cl28922
Location:20 → 41

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
NM_181831.3 → NP_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:224 → 284

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:37 → 139

B41; Band 4.1 homologues

cd13194
Location:133 → 229

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:264 → 496

ERM; Ezrin/radixin/moesin family

cl28922
Location:20 → 41

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
NM_181832.3 → NP_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:307 → 367

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:23 → 222

B41; Band 4.1 homologues

cd13194
Location:216 → 312

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 579

ERM; Ezrin/radixin/moesin family
NM_181833.3 → NP_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:20 → 103

FERM_F1_Merlin; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in merlin and similar proteins

pfam00373
Location:109 → 148

FERM_M; FERM central domain

RNA

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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

29603556..29698600

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441386.1 → XP_047297342.1 merlin isoform X2
XM_017028809.3 → XP_016884298.1 merlin isoform X1

UniProtKB/TrEMBL

B7Z4B6

Conserved Domains (4) summary

PLN03086
Location:269 → 329

PLN03086; PRLI-interacting factor K; Provisional

smart00295
Location:1 → 184

B41; Band 4.1 homologues

cd13194
Location:178 → 274

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:308 → 557

ERM; Ezrin/radixin/moesin family

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

30066918..30161963

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325658.1 → XP_054181633.1 merlin isoform X2
XM_054325657.1 → XP_054181632.1 merlin isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_181826.1: Suppressed sequence

Description

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

Description

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

Description

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