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Gene

ACTB

actin beta

Summary

Cytogenetic location
7p22.1
Coordinates
Chromosome 7: 5,527,148–5,530,601 (GRCh38)
Exons
6 exons across 3.5 kb
Protein
375 amino acids
MANE Select transcript
ENST00000646664.1NM_001101.5
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 reports relevant to this gene

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 2 GenCC submitters rate it definitive or strong

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

      • ClinGen rates the link moderate
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

How ACTB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where ACTB sits. ACTB and 15 genes near it on chromosome 7, from 5,028,875 to 6,028,874.Chromosome 77p22.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.35.2 Mb5.4 Mb5.6 Mb5.8 Mb6 MbRBAK-RBAKDN: 4,983,718–5,073,221, forward strandRBAK-RBAKDNRBAK: 5,045,821–5,069,491, forward strandRBAKRBAKDN: 5,072,125–5,073,223, forward strandRBAKDNWIPI2: 5,190,182–5,233,855, forward strandWIPI2SLC29A4: 5,274,369–5,307,194, forward strandSLC29A4TNRC18: 5,306,790–5,425,414, reverse strandTNRC18FBXL18: 5,431,335–5,513,814, reverse strandFBXL18ACTB: 5,527,148–5,530,601, reverse strandACTBFSCN1: 5,592,806–5,606,656, forward strandFSCN1RNF216: 5,620,047–5,781,696, reverse strandRNF216OCM: 5,879,827–5,886,363, forward strandOCMCCZ1: 5,898,692–5,926,550, forward strandCCZ1RSPH10B: 5,925,544–5,970,702, reverse strandRSPH10BPMS2: 5,970,925–6,009,130, reverse strandPMS2AIMP2: 6,009,226–6,024,655, forward strandAIMP2EIF2AK1: 6,022,247–6,059,240, reverse strandEIF2AK1Diagram of ACTB: 6 exons on the reverse strand of chromosome 7Exon 6: 8 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 4: 23 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 6: 5,527,148–5,527,891, 744 basesExon 5: 5,528,004–5,528,185, 182 basesExon 4: 5,528,281–5,528,719, 439 basesExon 3: 5,529,161–5,529,400, 240 basesExon 2: 5,529,535–5,529,663, 129 basesExon 1: 5,530,524–5,530,601, 78 bases6543215′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 1.8 kb of the gene's 3.5 kb; 1,128 of those bases code for the protein.

How a genome test reads ACTB

59

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

59 of them (100%) fall in regions short reads find hard.

  • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (59 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 3.5 kb of ACTB, introns included, not only the 1.8 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.). ACTB gene: actin beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/actb

Vancouver

Dante Labs. ACTB gene: actin beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/actb

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