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Gene

ACTG2

actin gamma 2, smooth muscle

Summary

Cytogenetic location
2p13.1
Coordinates
Chromosome 2: 73,893,008–73,919,865 (GRCh38)
Exons
9 exons across 26.9 kb
Protein
376 amino acids
Inheritance
Autosomal dominant
Also known as
ACTSG
Previous symbols
ACTL3, ACTA3
MANE Select transcript
ENST00000345517.8NM_001615.4
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

  • Hereditary Visceral Myopathy, CIPO & MMIHS

    • Familial visceral myopathyAutosomal dominant

      A disorder of smooth muscle in the gut and bladder, most often caused by ACTG2 variants, which frequently arise new in the affected person.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      A genetic diagnosis can spare unnecessary abdominal surgery and guides nutritional and bladder care.

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 ACTG2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where ACTG2 sits. ACTG2 and 15 genes near it on chromosome 2, from 73,406,437 to 74,406,436.Chromosome 22p13.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.373.6 Mb73.8 Mb74 Mb74.2 Mb74.4 MbALMS1: 73,385,758–73,625,166, forward strandALMS1NAT8: 73,640,723–73,643,229, reverse strandNAT8TPRKB: 73,709,704–73,737,421, reverse strandTPRKBDUSP11: 73,761,782–73,780,173, reverse strandDUSP11C2orf78: 73,784,183–73,817,148, forward strandC2orf78STAMBP: 73,828,916–73,873,670, forward strandSTAMBPACTG2: 73,893,008–73,919,865, forward strandACTG2DGUOK: 73,926,794–73,958,961, forward strandDGUOKTET3: 73,984,910–74,108,177, forward strandTET3BOLA3: 74,133,333–74,147,977, reverse strandBOLA3MOB1A: 74,152,528–74,178,932, reverse strandMOB1AMTHFD2: 74,186,172–74,218,432, forward strandMTHFD2: 74,211,604–74,363,377, reverse strandSLC4A5: 74,216,242–74,343,416, reverse strandSLC4A5DCTN1: 74,361,154–74,392,087, reverse strandDCTN1: 74,393,836–74,421,662, reverse strandDiagram of ACTG2: 9 exons on the forward strand of chromosome 2Exon 2: 4 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 1: 73,893,008–73,893,051, 44 basesExon 2: 73,901,276–73,901,437, 162 basesExon 3: 73,902,360–73,902,488, 129 basesExon 4: 73,908,673–73,908,783, 111 basesExon 5: 73,909,055–73,909,139, 85 basesExon 6: 73,913,485–73,913,646, 162 basesExon 7: 73,914,680–73,914,871, 192 basesExon 8: 73,916,584–73,916,765, 182 basesExon 9: 73,919,432–73,919,865, 434 bases1246895′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 1.5 kb of the gene's 26.9 kb; 1,131 of those bases code for the protein.

How a genome test reads ACTG2

25

positions in ACTG2 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 26.9 kb of ACTG2, introns included, not only the 1.5 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.). ACTG2 gene: actin gamma 2, smooth muscle. Retrieved 17 October 2026, from https://dantelabs.com/genes/actg2

Vancouver

Dante Labs. ACTG2 gene: actin gamma 2, smooth muscle [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/actg2

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