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Gene

SMARCA2

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

Summary

Cytogenetic location
9p24.3
Coordinates
Chromosome 9: 2,015,347–2,193,620 (GRCh38)
Exons
34 exons across 178.3 kb
Protein
1,590 amino acids
Also known as
BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2
Previous symbols
SNF2L2
MANE Select transcript
ENST00000349721.8NM_003070.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Intellectual Disability

      • One of 233 genes linked to it

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

    How SMARCA2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 9, with a bracket where SMARCA2 sits. SMARCA2 and 0 genes near it on chromosome 9, from 1,604,484 to 2,604,483.Chromosome 99p24.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.31.8 Mb2 Mb2.2 Mb2.4 Mb2.6 MbSMARCA2: 2,015,347–2,193,620, forward strandSMARCA2Diagram of SMARCA2: 34 exons on the forward strand of chromosome 9Exon 7: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 9: 8 known disease-causing sitesExon 11: 1 known disease-causing siteExon 15: 5 known disease-causing sitesExon 16: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 18: 5 known disease-causing sitesExon 19: 7 known disease-causing sitesExon 20: 1 known disease-causing siteExon 23: 2 known disease-causing sitesExon 24: 6 known disease-causing sitesExon 25: 16 known disease-causing sitesExon 27: 2 known disease-causing sitesExon 32: 1 known disease-causing siteExon 1: 2,015,347–2,015,404, 58 basesExon 2: 2,028,987–2,029,247, 261 basesExon 3: 2,032,952–2,033,081, 130 basesExon 4: 2,039,466–2,039,900, 435 basesExon 5: 2,047,229–2,047,484, 256 basesExon 6: 2,054,597–2,054,723, 127 basesExon 7: 2,056,672–2,056,845, 174 basesExon 8: 2,058,291–2,058,464, 174 basesExon 9: 2,060,816–2,060,986, 171 basesExon 10: 2,070,418–2,070,471, 54 basesExon 11: 2,073,212–2,073,342, 131 basesExon 12: 2,073,566–2,073,623, 58 basesExon 13: 2,076,229–2,076,329, 101 basesExon 14: 2,077,629–2,077,776, 148 basesExon 15: 2,081,832–2,081,995, 164 basesExon 16: 2,083,347–2,083,413, 67 basesExon 17: 2,084,086–2,084,196, 111 basesExon 18: 2,086,829–2,087,071, 243 basesExon 19: 2,088,500–2,088,613, 114 basesExon 20: 2,096,657–2,096,764, 108 basesExon 21: 2,097,385–2,097,471, 87 basesExon 22: 2,101,570–2,101,616, 47 basesExon 23: 2,104,003–2,104,169, 167 basesExon 24: 2,110,254–2,110,417, 164 basesExon 25: 2,115,822–2,116,049, 228 basesExon 26: 2,119,458–2,119,535, 78 basesExon 27: 2,123,719–2,123,937, 219 basesExon 28: 2,161,686–2,161,903, 218 basesExon 29: 2,170,419–2,170,472, 54 basesExon 30: 2,181,571–2,181,676, 106 basesExon 31: 2,182,141–2,182,242, 102 basesExon 32: 2,186,096–2,186,228, 133 basesExon 33: 2,191,266–2,191,408, 143 basesExon 34: 2,192,704–2,193,620, 917 bases151015202530345′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 5.7 kb of the gene's 178.3 kb; 4,773 of those bases code for the protein.

    Sequencing SMARCA2

    59

    positions in SMARCA2 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 178.3 kb of SMARCA2, introns included, not only the 5.7 kb of exons.

    Genes linked to the same conditions

    Traits linked to SMARCA2

    The Human Phenotype Ontology lists these as features of the rare conditions SMARCA2 can cause. Each trait's page lists the other genes linked to it.

    Abnormality of head or neck

    Show 46 more traits

    External links

    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 2026-10-17: 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 2026.10.17-8666dff2.

    Cite this page

    APA

    Dante Labs. (n.d.). SMARCA2 gene: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/smarca2

    Vancouver

    Dante Labs. SMARCA2 gene: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/smarca2

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