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Gene

ACTN2

actinin alpha 2

Summary

Cytogenetic location
1q43
Coordinates
Chromosome 1: 236,686,499–236,764,631 (GRCh38)
Exons
21 exons across 78.1 kb
Protein
894 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000366578.6NM_001103.4
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

  • Syndromic and Metabolic Cardiomyopathies

    • ACTN2-Related Cardiac and Skeletal MyopathyAutosomal dominant

      A heart and muscle disorder caused by changes in ACTN2 that can cause hypertrophic, dilated or restrictive cardiomyopathy, arrhythmias and muscle weakness.

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

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 ACTN2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where ACTN2 sits. ACTN2 and 8 genes near it on chromosome 1, from 236,225,565 to 237,225,564.Chromosome 11q43p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44236.4 Mb236.6 Mb236.8 Mb237 Mb237.2 MbGPR137B: 236,142,148–236,253,151, forward strandGPR137BERO1B: 236,214,681–236,282,019, reverse strandERO1BEDARADD: 236,348,257–236,502,915, forward strandEDARADDLGALS8: 236,518,000–236,552,981, forward strandLGALS8HEATR1: 236,540,493–236,604,832, reverse strandHEATR1ACTN2: 236,686,499–236,764,631, forward strandACTN2MTR: 236,795,260–236,921,278, forward strandMTRMT1HL1: 237,004,103–237,004,441, reverse strandMT1HL1RYR2: 237,042,184–237,833,988, forward strandRYR2Diagram of ACTN2: 21 exons on the forward strand of chromosome 1Exon 2: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 1: 236,686,499–236,686,799, 301 basesExon 2: 236,717,858–236,717,972, 115 basesExon 3: 236,718,894–236,719,013, 120 basesExon 4: 236,720,105–236,720,191, 87 basesExon 5: 236,725,933–236,726,020, 88 basesExon 6: 236,727,678–236,727,756, 79 basesExon 7: 236,731,233–236,731,314, 82 basesExon 8: 236,735,635–236,735,720, 86 basesExon 9: 236,737,122–236,737,214, 93 basesExon 10: 236,739,302–236,739,532, 231 basesExon 11: 236,742,896–236,743,043, 148 basesExon 12: 236,744,626–236,744,776, 151 basesExon 13: 236,747,667–236,747,775, 109 basesExon 14: 236,749,124–236,749,264, 141 basesExon 15: 236,751,470–236,751,652, 183 basesExon 16: 236,753,947–236,754,081, 135 basesExon 17: 236,755,019–236,755,198, 180 basesExon 18: 236,757,486–236,757,632, 147 basesExon 19: 236,759,724–236,759,789, 66 basesExon 20: 236,761,015–236,761,173, 159 basesExon 21: 236,762,461–236,764,631, 2,171 bases12468101214161820215′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 4.9 kb of the gene's 78.1 kb; 2,685 of those bases code for the protein.

How a genome test reads ACTN2

17

positions in ACTN2 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 78.1 kb of ACTN2, introns included, not only the 4.9 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.). ACTN2 gene: actinin alpha 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/actn2

Vancouver

Dante Labs. ACTN2 gene: actinin alpha 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/actn2

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