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Gene

SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

Summary

Cytogenetic location
19p13.2
Coordinates
Chromosome 19: 10,961,030–11,062,273 (GRCh38)
Exons
35 exons across 101.2 kb
Protein
1,647 amino acids
Inheritance
Autosomal dominant
Also known as
hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786
Previous symbols
SNF2L4
MANE Select transcript
ENST00000344626.10NM_003072.5
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

  • Rhabdoid Tumour and SWI/SNF Tumour Predisposition

    • Familial rhabdoid tumourAutosomal dominant

      SMARCB1- or SMARCA4-related predisposition to atypical teratoid/rhabdoid tumours of the brain and rhabdoid tumours of the kidney and soft tissue in early childhood; SMARCA4 also causes small cell carcinoma of the ovary.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Brain and abdominal imaging in early childhood; relatives can be offered testing.

Broader groupings

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 SMARCA4 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 SMARCA4 sits. SMARCA4 and 33 genes near it on chromosome 19, from 10,511,652 to 11,511,651.Chromosome 1919p13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4310.6 Mb10.8 Mb11 Mb11.2 Mb11.4 MbS1PR5: 10,512,742–10,517,981, reverse strandS1PR5ATG4D: 10,543,533–10,553,556, forward strandATG4DKRI1: 10,553,085–10,566,031, reverse strandKRI1CDKN2D: 10,566,460–10,569,059, reverse strandCDKN2DAP1M2: 10,569,431–10,587,317, reverse strandAP1M2SLC44A2: 10,602,457–10,644,559, forward strandSLC44A2ILF3: 10,654,261–10,692,415, forward strandILF3QTRT1: 10,701,430–10,713,747, forward strandQTRT1DNM2: 10,717,967–10,834,209, forward strandDNM2TMED1: 10,832,067–10,836,330, reverse strandTMED1C19orf38: 10,836,567–10,869,796, forward strandC19orf38CARM1: 10,871,447–10,923,081, forward strandCARM1YIPF2: 10,918,919–10,928,704, reverse strandYIPF2TIMM29: 10,928,716–10,933,535, forward strandTIMM29SMARCA4: 10,961,030–11,062,273, forward strandSMARCA4LDLR: 11,089,418–11,133,830, forward strandLDLRSPC24: 11,131,419–11,155,815, reverse strandSPC24KANK2: 11,164,264–11,197,945, reverse strandKANK2DOCK6: 11,199,295–11,262,533, reverse strandDOCK6ANGPTL8: 11,237,502–11,245,478, forward strandANGPTL8TSPAN16: 11,296,139–11,326,996, forward strandTSPAN16RAB3D: 11,322,047–11,346,433, reverse strandRAB3DTMEM205: 11,342,775–11,346,534, reverse strandTMEM205CCDC159: 11,344,684–11,354,948, forward strandCCDC159PLPPR2: 11,355,386–11,365,698, forward strandSWSAP1: 11,374,658–11,379,194, forward strandEPOR: 11,377,207–11,384,343, reverse strandRGL3: 11,384,341–11,419,372, reverse strandRGL3ODAD3: 11,420,604–11,435,782, reverse strandODAD3PRKCSH: 11,422,369–11,450,969, forward strandPRKCSHELAVL3: 11,451,326–11,481,051, reverse strandELAVL3: 11,466,240–11,505,698, reverse strandZNF653: 11,483,134–11,505,839, reverse strandZNF653ECSIT: 11,505,916–11,540,137, reverse strandECSITDiagram of SMARCA4: 35 exons on the forward strand of chromosome 19Exon 2: 6 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 17 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 15 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 10: 18 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 14: 7 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 19: 25 known disease-causing sitesExon 20: 7 known disease-causing sitesExon 21: 7 known disease-causing sitesExon 22: 3 known disease-causing sitesExon 23: 4 known disease-causing sitesExon 24: 6 known disease-causing sitesExon 25: 9 known disease-causing sitesExon 26: 13 known disease-causing sitesExon 27: 3 known disease-causing sitesExon 28: 2 known disease-causing sitesExon 29: 9 known disease-causing sitesExon 30: 9 known disease-causing sitesExon 31: 7 known disease-causing sitesExon 32: 2 known disease-causing sitesExon 33: 7 known disease-causing sitesExon 34: 1 known disease-causing siteExon 1: 10,961,030–10,961,174, 145 basesExon 2: 10,984,121–10,984,373, 253 basesExon 3: 10,985,273–10,985,405, 133 basesExon 4: 10,986,189–10,986,593, 405 basesExon 5: 10,986,905–10,987,003, 99 basesExon 6: 10,987,666–10,987,924, 259 basesExon 7: 10,989,317–10,989,443, 127 basesExon 8: 10,991,150–10,991,323, 174 basesExon 9: 10,994,828–10,995,001, 174 basesExon 10: 10,996,213–10,996,380, 168 basesExon 11: 10,996,494–10,996,544, 51 basesExon 12: 11,003,029–11,003,159, 131 basesExon 13: 11,003,340–11,003,397, 58 basesExon 14: 11,007,902–11,008,023, 122 basesExon 15: 11,010,381–11,010,531, 151 basesExon 16: 11,012,949–11,013,112, 164 basesExon 17: 11,018,957–11,019,023, 67 basesExon 18: 11,019,591–11,019,701, 111 basesExon 19: 11,021,725–11,021,967, 243 basesExon 20: 11,023,518–11,023,631, 114 basesExon 21: 11,024,331–11,024,438, 108 basesExon 22: 11,025,422–11,025,508, 87 basesExon 23: 11,026,300–11,026,346, 47 basesExon 24: 11,027,784–11,027,950, 167 basesExon 25: 11,030,730–11,030,893, 164 basesExon 26: 11,033,290–11,033,517, 228 basesExon 27: 11,033,767–11,033,865, 99 basesExon 28: 11,034,123–11,034,200, 78 basesExon 29: 11,034,914–11,035,132, 219 basesExon 30: 11,041,307–11,041,560, 254 basesExon 31: 11,058,255–11,058,363, 109 basesExon 32: 11,058,788–11,058,889, 102 basesExon 33: 11,059,753–11,059,885, 133 basesExon 34: 11,060,045–11,060,187, 143 basesExon 35: 11,061,784–11,062,273, 490 bases151015202530355′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 5.6 kb of the gene's 101.2 kb; 4,944 of those bases code for the protein.

How a genome test reads SMARCA4

299

positions in SMARCA4 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 101.2 kb of SMARCA4, introns included, not only the 5.6 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.). SMARCA4 gene: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/smarca4

Vancouver

Dante Labs. SMARCA4 gene: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/smarca4

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