Seroatlas · Human Serome Atlas

NF2

Merlin

Also known as: ACN, BANF, MERL_HUMAN, merlin, merlin-1, SCH

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P35240
Gene
NF2
Ensembl
ENSG00000186575
Chromosome
22
Canonical length
595 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

595 residues, UniProt reviewed canonical sequence.

>P35240|NF2
     1  MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV CRTLGLRETW
    61  FFGLQYTIKD TVAWLKMDKK VLDHDVSKEE PVTFHFLAKF YPENAEEELV QEITQHLFFL
   121  QVKKQILDEK IYCPPEASVL LASYAVQAKY GDYDPSVHKR GFLAQEELLP KRVINLYQMT
   181  PEMWEERITA WYAEHRGRAR DEAEMEYLKI AQDLEMYGVN YFAIRNKKGT ELLLGVDALG
   241  LHIYDPENRL TPKISFPWNE IRNISYSDKE FTIKPLDKKI DVFKFNSSKL RVNKLILQLC
   301  IGNHDLFMRR RKADSLEVQQ MKAQAREEKA RKQMERQRLA REKQMREEAE RTRDELERRL
   361  LQMKEEATMA NEALMRSEET ADLLAEKAQI TEEEAKLLAQ KAAEAEQEMQ RIKATAIRTE
   421  EEKRLMEQKV LEAEVLALKM AEESERRAKE ADQLKQDLQE AREAERRAKQ KLLEIATKPT
   481  YPPMNPIPAP LPPDIPSFNL IGDSLSFDFK DTDMKRLSME IEKEKVEYME KSKHLQEQLN
   541  ELKTEIEALK LKERETALDI LHNENSDRGG SSKHNTIKKL TLQSAKSRVA FFEEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
31 nTPM

Expression across tissuesHPA

Tissue

  • hippocampal formation: 31 nTPM
  • cerebral cortex: 27 nTPM
  • parathyroid gland: 26 nTPM
  • amygdala: 25 nTPM
  • testis: 24 nTPM
  • basal ganglia: 21 nTPM

Single-cell type

  • late spermatids: 176 nCPM
  • renal collecting duct intercalated cells: 94 nCPM
  • early spermatids: 80 nCPM
  • late primary spermatocytes: 72 nCPM
  • renal connecting tubule cells: 71 nCPM
  • choroid plexus epithelial cells: 71 nCPM

Immune cell

  • non-classical monocyte: 21 nTPM
  • gdT-cell: 16 nTPM
  • myeloid DC: 15 nTPM
  • intermediate monocyte: 15 nTPM
  • NK-cell: 13 nTPM
  • MAIT T-cell: 13 nTPM

Brain region

  • cerebral cortex: 73 nTPM
  • hippocampal formation: 71 nTPM
  • amygdala: 55 nTPM
  • midbrain: 53 nTPM
  • thalamus: 52 nTPM
  • basal ganglia: 49 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NF2.

Disease | AllUniProt

Conditions NF2 is implicated in, by any mechanism.

Disease | GeneticClinVar

303 pathogenic / likely-pathogenic of 2,533 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.09
gnomAD pLI
1
gnomAD missense Z
2.29
DepMap mean gene effect
0.34
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NF2 as an antibody target. Whether an autoantibody or antibody against NF2 could matter depends on whether native NF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NF2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NF2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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