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Gene

ACTL6B

actin like 6B

Summary

Cytogenetic location
7q22.1
Coordinates
Chromosome 7: 100,643,097–100,656,448 (GRCh38)
Exons
14 exons across 13.4 kb
Protein
426 amino acids
Also known as
BAF53B, SMARCN2
Previous symbols
ACTL6
MANE Select transcript
ENST00000160382.10NM_016188.5
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 report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • 4 GenCC submitters rate it definitive or strong

    How ACTL6B 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 ACTL6B sits. ACTL6B and 41 genes near it on chromosome 7, from 100,149,773 to 101,149,772.Chromosome 77q22.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3100.2 Mb100.4 Mb100.6 Mb100.8 Mb101 MbLAMTOR4: 100,148,888–100,155,945, forward strandTRAPPC14: 100,154,420–100,158,737, reverse strandGAL3ST4: 100,159,244–100,168,953, reverse strandGAL3ST4GPC2: 100,169,602–100,177,389, reverse strandGPC2STAG3: 100,177,563–100,214,387, forward strandSTAG3: 100,205,357–100,221,488, forward strandPVRIG: 100,218,241–100,221,490, forward strandPVRIGSPDYE3: 100,307,702–100,322,372, forward strandSPDYE3PILRB: 100,351,627–100,367,831, forward strandPILRBPILRA: 100,367,530–100,400,098, forward strand: 100,397,577–100,434,107, forward strandZCWPW1: 100,400,826–100,428,992, reverse strandMEPCE: 100,428,322–100,435,138, forward strandMEPCEPPP1R35: 100,435,261–100,436,546, reverse strandPPP1R35SPACDR: 100,456,620–100,464,277, reverse strandSPACDRTSC22D4: 100,466,508–100,479,257, reverse strandTSC22D4: 100,478,099–100,478,170, reverse strandNYAP1: 100,483,605–100,494,802, forward strandNYAP1AGFG2: 100,539,169–100,569,429, forward strandAGFG2SAP25: 100,572,228–100,573,916, reverse strandLRCH4: 100,574,011–100,586,236, reverse strandLRCH4FBXO24: 100,583,982–100,601,117, forward strandPCOLCE: 100,602,321–100,608,175, forward strandPCOLCEMOSPD3: 100,612,102–100,616,004, forward strandMOSPD3TFR2: 100,620,416–100,642,779, reverse strandTFR2ACTL6B: 100,643,097–100,656,448, reverse strandACTL6BGNB2: 100,673,477–100,679,174, forward strandGNB2GIGYF1: 100,679,505–100,694,481, reverse strandGIGYF1POP7: 100,695,902–100,708,628, forward strandPOP7EPO: 100,720,465–100,723,700, forward strandEPOZAN: 100,733,595–100,797,797, forward strandZANEPHB4: 100,802,563–100,827,584, reverse strandEPHB4SLC12A9: 100,826,820–100,867,017, forward strandSLC12A9TRIP6: 100,867,126–100,873,524, forward strandTRIP6SRRT: 100,875,065–100,888,664, forward strandSRRTUFSP1: 100,888,721–100,889,715, reverse strandUFSP1ACHE: 100,889,993–100,897,022, reverse strandMUC3A: 100,949,414–100,968,348, forward strandMUC3AMUC12: 100,969,431–101,018,940, forward strandMUC12MUC17: 101,020,072–101,058,859, forward strandMUC17TRIM56: 101,085,234–101,097,967, forward strandTRIM56SERPINE1: 101,122,158–101,139,263, forward strandSERPINE1Diagram of ACTL6B: 14 exons on the reverse strand of chromosome 7Exon 14: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 14: 100,643,097–100,643,326, 230 basesExon 13: 100,646,249–100,646,335, 87 basesExon 12: 100,646,551–100,646,646, 96 basesExon 11: 100,646,751–100,646,831, 81 basesExon 10: 100,646,971–100,647,085, 115 basesExon 9: 100,647,223–100,647,284, 62 basesExon 8: 100,647,444–100,647,533, 90 basesExon 7: 100,648,556–100,648,662, 107 basesExon 6: 100,648,729–100,648,823, 95 basesExon 5: 100,650,038–100,650,135, 98 basesExon 4: 100,655,019–100,655,119, 101 basesExon 3: 100,655,421–100,655,586, 166 basesExon 2: 100,655,803–100,655,879, 77 basesExon 1: 100,656,330–100,656,448, 119 bases141210864215′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 13.4 kb; 1,281 of those bases code for the protein.

    How a genome test reads ACTL6B

    21

    positions in ACTL6B 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 13.4 kb of ACTL6B, 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.). ACTL6B gene: actin like 6B. Retrieved 17 October 2026, from https://dantelabs.com/genes/actl6b

    Vancouver

    Dante Labs. ACTL6B gene: actin like 6B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/actl6b

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