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Gene

ACTN4

actinin alpha 4

Summary

Cytogenetic location
19q13.2
Coordinates
Chromosome 19: 38,647,649–38,731,589 (GRCh38)
Exons
21 exons across 83.9 kb
Protein
911 amino acids
Previous symbols
FSGS1
MANE Select transcript
ENST00000252699.7NM_004924.6
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

  • Focal Segmental Glomerulosclerosis

    • A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.

      • 2 GenCC submitters rate it definitive or strong

  • Glomerulosclerosis

    • A hardening of the kidney glomerulus caused by scarring of the blood vessels.

      • 2 GenCC submitters rate it definitive or strong

  • Nephrotic Syndrome

    • Nephrosis

      Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.

      • 2 GenCC submitters rate it definitive or strong

How ACTN4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where ACTN4 sits. ACTN4 and 35 genes near it on chromosome 19, from 38,189,619 to 39,189,618.Chromosome 1919q13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4338.2 Mb38.4 Mb38.6 Mb38.8 Mb39 MbSIPA1L3: 37,907,200–38,208,369, forward strandSIPA1L3DPF1: 38,211,006–38,229,729, reverse strandDPF1SPINT2: 38,244,035–38,292,615, forward strandSPINT2PPP1R14A: 38,250,856–38,256,615, reverse strand: 38,289,151–38,304,910, forward strandYIF1B: 38,303,558–38,317,273, reverse strandYIF1BC19orf33: 38,304,158–38,305,011, forward strandC19orf33KCNK6: 38,319,813–38,333,553, forward strandKCNK6CATSPERG: 38,335,775–38,370,943, forward strandPSMD8: 38,374,563–38,383,850, forward strandGGN: 38,384,267–38,388,274, reverse strandGGNSPRED3: 38,388,421–38,399,588, forward strandSPRED3TSLIG3C: 38,403,093–38,409,088, forward strandTSLIG3CRASGRP4: 38,409,051–38,426,305, reverse strandRASGRP4RYR1: 38,433,691–38,595,273, forward strandRYR1MAP4K1: 38,587,641–38,619,161, reverse strandMAP4K1EIF3K: 38,619,055–38,636,959, forward strandEIF3KACTN4: 38,647,649–38,731,589, forward strandACTN4CAPN12: 38,730,187–38,769,904, reverse strandCAPN12LGALS7: 38,770,968–38,773,542, reverse strandLGALS7LGALS7B: 38,789,191–38,791,754, forward strandLGALS7BLGALS4: 38,801,671–38,813,070, reverse strandLGALS4ECH1: 38,815,415–38,831,874, reverse strandECH1: 38,817,471–38,840,178, reverse strandHNRNPL: 38,836,370–38,852,347, reverse strandRINL: 38,867,830–38,878,275, reverse strandRINLSIRT2: 38,878,555–38,900,501, reverse strandSIRT2NFKBIB: 38,899,700–38,908,893, forward strandNFKBIBCCER2: 38,908,980–38,912,252, reverse strandCCER2SARS2: 38,915,265–38,930,779, reverse strandSARS2: 38,915,404–38,949,855, reverse strandMRPS12: 38,930,917–38,937,406, forward strandFBXO17: 38,941,401–38,976,773, reverse strandFBXO27: 38,990,714–39,033,773, reverse strandFBXO27ACP7: 39,083,913–39,111,497, forward strandACP7PAK4: 39,125,728–39,182,816, forward strandPAK4Diagram of ACTN4: 21 exons on the forward strand of chromosome 19Exon 2: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 1: 38,647,649–38,647,907, 259 basesExon 2: 38,700,600–38,700,714, 115 basesExon 3: 38,701,002–38,701,121, 120 basesExon 4: 38,704,934–38,705,020, 87 basesExon 5: 38,706,044–38,706,131, 88 basesExon 6: 38,708,117–38,708,195, 79 basesExon 7: 38,709,395–38,709,476, 82 basesExon 8: 38,710,257–38,710,342, 86 basesExon 9: 38,714,469–38,714,561, 93 basesExon 10: 38,717,086–38,717,316, 231 basesExon 11: 38,717,927–38,718,074, 148 basesExon 12: 38,721,538–38,721,688, 151 basesExon 13: 38,723,614–38,723,722, 109 basesExon 14: 38,723,937–38,724,077, 141 basesExon 15: 38,724,157–38,724,339, 183 basesExon 16: 38,724,431–38,724,565, 135 basesExon 17: 38,725,724–38,725,903, 180 basesExon 18: 38,726,957–38,727,103, 147 basesExon 19: 38,727,946–38,728,026, 81 basesExon 20: 38,728,996–38,729,154, 159 basesExon 21: 38,729,274–38,731,589, 2,316 bases1215′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 5 kb of the gene's 83.9 kb; 2,736 of those bases code for the protein.

How a genome test reads ACTN4

9

positions in ACTN4 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 83.9 kb of ACTN4, introns included, not only the 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.). ACTN4 gene: actinin alpha 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/actn4

Vancouver

Dante Labs. ACTN4 gene: actinin alpha 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/actn4

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