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Gene

NF2

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

Summary

Cytogenetic location
22q12.2
Coordinates
Chromosome 22: 29,603,633–29,698,598 (GRCh38)
Exons
16 exons across 95 kb
Protein
595 amino acids
Inheritance
Autosomal dominant
Also known as
merlin, ACN, SCH, BANF, merlin-1
MANE Select transcript
ENST00000338641.10NM_000268.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Neurofibromatosis

    • Autosomal dominant

      A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Genotype-phenotype correlation, MEK inhibitor therapy for inoperable plexiform neurofibromas, Tumor surveillance, cascade testing

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How NF2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 22, with a bracket where NF2 sits. NF2 and 17 genes near it on chromosome 22, from 29,151,116 to 30,151,115.Chromosome 2222q12.2p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3329.2 Mb29.4 Mb29.6 Mb29.8 Mb30 MbKREMEN1: 29,072,937–29,168,333, forward strandKREMEN1EMID1: 29,205,809–29,259,598, forward strandEMID1RHBDD3: 29,259,850–29,268,221, reverse strandRHBDD3EWSR1: 29,268,009–29,300,530, forward strandEWSR1GAS2L1: 29,306,394–29,312,787, forward strandGAS2L1RASL10A: 29,312,933–29,319,679, reverse strandRASL10AAP1B1: 29,327,680–29,388,612, reverse strandAP1B1RFPL1: 29,438,583–29,442,455, forward strandRFPL1NEFH: 29,480,209–29,491,390, forward strandNEFHTHOC5: 29,505,879–29,555,216, reverse strandTHOC5NIPSNAP1: 29,554,806–29,581,327, reverse strandNIPSNAP1NF2: 29,603,633–29,698,598, forward strandNF2CABP7: 29,719,998–29,731,833, forward strandCABP7ZMAT5: 29,728,138–29,767,084, reverse strandZMAT5UQCR10: 29,767,352–29,770,413, forward strandUQCR10ASCC2: 29,788,044–29,838,304, reverse strandASCC2MTMR3: 29,883,141–30,030,868, forward strandMTMR3HORMAD2: 30,080,444–30,211,427, forward strandHORMAD2Diagram of NF2: 16 exons on the forward strand of chromosome 22Exon 1: 14 known disease-causing sitesExon 2: 15 known disease-causing sitesExon 3: 16 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 8: 11 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 10: 10 known disease-causing sitesExon 11: 17 known disease-causing sitesExon 12: 20 known disease-causing sitesExon 13: 8 known disease-causing sitesExon 14: 10 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 1: 29,603,633–29,604,112, 480 bases. 1 variant with a page in exon 1. List themExon 2: 29,636,751–29,636,876, 126 bases. 4 variants with a page in exon 2. List themExon 3: 29,639,090–29,639,212, 123 bases. 2 variants with a page in exon 3. List themExon 4: 29,642,202–29,642,285, 84 bases. 1 variant with a page in exon 4. List themExon 5: 29,654,657–29,654,725, 69 basesExon 6: 29,655,594–29,655,676, 83 bases. 3 variants with a page in exon 6. List themExon 7: 29,658,189–29,658,264, 76 bases. 2 variants with a page in exon 7. List themExon 8: 29,661,205–29,661,339, 135 bases. 1 variant with a page in exon 8. List themExon 9: 29,664,990–29,665,064, 75 basesExon 10: 29,668,333–29,668,446, 114 basesExon 11: 29,671,826–29,671,948, 123 bases. 2 variants with a page in exon 11. List themExon 12: 29,673,269–29,673,486, 218 bases. 1 variant with a page in exon 12. List themExon 13: 29,674,836–29,674,941, 106 bases. 2 variants with a page in exon 13. List themExon 14: 29,678,196–29,678,323, 128 bases. 1 variant with a page in exon 14. List themExon 15: 29,681,439–29,681,601, 163 bases. 1 variant with a page in exon 15. List themExon 16: 29,694,752–29,698,598, 3,847 bases12468101214165′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6 kb of the gene's 95 kb; 1,788 of those bases code for the protein.

How a genome test reads NF2

239

positions in NF2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 95 kb of NF2, introns included, not only the 6 kb of exons.

Variants with a page (30)

The NF2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A4Pfs*6c.10delExon 129,604,004Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.115-1G>AIntron 129,636,750Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.240+1G>AIntron 229,636,877Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.448-1G>AIntron 429,654,656Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.516+1G>AIntron 529,654,726Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.517-1G>AIntron 529,655,593Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.600-2A>GIntron 629,658,187Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.810+1G>AIntron 829,661,340Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1340+2T>GIntron 1229,673,488Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1447-1G>AIntron 1329,678,195Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 30 NF2 variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NF2 gene: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor. Retrieved 16 October 2026, from https://dantelabs.com/genes/nf2

Vancouver

Dante Labs. NF2 gene: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nf2

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