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Gene

CFL2

cofilin 2

Summary

Cytogenetic location
14q13.1
Coordinates
Chromosome 14: 34,709,113–34,714,593 (GRCh38)
Exons
4 exons across 5.5 kb
Protein
166 amino acids
Also known as
NEM7
MANE Select transcript
ENST00000298159.11NM_138638.5
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

  • Congenital Myopathies

    • Nemaline myopathy

      A congenital myopathy defined by rod-shaped structures in muscle fibers, most often caused by NEB or ACTA1 variants.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

How CFL2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 14, with a bracket where CFL2 sits. CFL2 and 10 genes near it on chromosome 14, from 34,211,853 to 35,211,852.Chromosome 1414q13.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3334.4 Mb34.6 Mb34.8 Mb35 Mb35.2 MbEGLN3: 33,924,221–34,462,774, reverse strandEGLN3SPTSSA: 34,432,624–34,462,273, reverse strandSPTSSAEAPP: 34,515,938–34,539,793, reverse strandEAPPSNX6: 34,561,093–34,630,208, reverse strandSNX6CFL2: 34,709,113–34,714,593, reverse strandCFL2BAZ1A: 34,752,028–34,875,647, reverse strandBAZ1ASRP54: 34,981,957–35,029,686, forward strandSRP54FAM177A1: 35,045,117–35,116,630, forward strandFAM177A1PPP2R3C: 35,085,467–35,122,547, reverse strandPPP2R3CPRORP: 35,121,842–35,278,538, forward strandPRORP: 35,122,549–35,317,474, forward strandDiagram of CFL2: 4 exons on the reverse strand of chromosome 14Exon 3: 2 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 4: 34,709,113–34,712,977, 3,865 basesExon 3: 34,713,060–34,713,136, 77 basesExon 2: 34,713,254–34,713,561, 308 basesExon 1: 34,714,538–34,714,593, 56 bases43215′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 4.3 kb of the gene's 5.5 kb; 501 of those bases code for the protein.

How a genome test reads CFL2

5

positions in CFL2 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 5.5 kb of CFL2, introns included, not only the 4.3 kb of exons.

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.). CFL2 gene: cofilin 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/cfl2

Vancouver

Dante Labs. CFL2 gene: cofilin 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cfl2

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