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Gene

PLCB1

phospholipase C beta 1

Summary

Cytogenetic location
20p12.3
Coordinates
Chromosome 20: 8,132,266–8,884,900 (GRCh38)
Exons
32 exons across 752.6 kb
Protein
1,216 amino acids
Also known as
KIAA0581, PLC-I, PLC154
MANE Select transcript
ENST00000338037.11NM_015192.4
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.

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

    How PLCB1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 20, with a bracket where PLCB1 sits. PLCB1 and 5 genes near it on chromosome 20, from 7,379,631 to 9,637,535.Chromosome 2020p12.3p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.337.5 Mb8 Mb8.5 Mb9 Mb9.5 MbHAO1: 7,845,499–7,940,539, reverse strandHAO1TMX4: 7,976,690–8,019,829, reverse strandTMX4PLCB1: 8,132,266–8,884,900, forward strandPLCB1PLCB4: 9,067,825–9,504,605, forward strandPLCB4LAMP5: 9,514,267–9,530,541, forward strandLAMP5PAK5: 9,537,370–9,839,076, reverse strandPAK5Diagram of PLCB1: 32 exons on the forward strand of chromosome 20Exon 7: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 27: 1 known disease-causing siteExon 31: 1 known disease-causing siteExon 1: 8,132,266–8,132,750, 485 basesExon 2: 8,150,294–8,150,371, 78 basesExon 3: 8,371,382–8,371,450, 69 basesExon 4: 8,628,294–8,628,431, 138 basesExon 5: 8,646,102–8,646,181, 80 basesExon 6: 8,647,900–8,647,953, 54 basesExon 7: 8,649,374–8,649,449, 76 basesExon 8: 8,657,184–8,657,284, 101 basesExon 9: 8,658,538–8,658,704, 167 basesExon 10: 8,684,932–8,685,078, 147 basesExon 11: 8,697,626–8,697,783, 158 basesExon 12: 8,708,670–8,708,752, 83 basesExon 13: 8,716,264–8,716,348, 85 basesExon 14: 8,717,671–8,717,848, 178 basesExon 15: 8,722,354–8,722,421, 68 basesExon 16: 8,724,656–8,724,752, 97 basesExon 17: 8,727,309–8,727,393, 85 basesExon 18: 8,729,050–8,729,174, 125 basesExon 19: 8,733,238–8,733,392, 155 basesExon 20: 8,737,028–8,737,192, 165 basesExon 21: 8,739,261–8,739,360, 100 basesExon 22: 8,740,344–8,740,448, 105 basesExon 23: 8,741,464–8,741,573, 110 basesExon 24: 8,757,046–8,757,178, 133 basesExon 25: 8,760,407–8,760,460, 54 basesExon 26: 8,765,139–8,765,358, 220 basesExon 27: 8,774,539–8,774,719, 181 basesExon 28: 8,788,449–8,788,525, 77 basesExon 29: 8,788,633–8,788,722, 90 basesExon 30: 8,789,518–8,789,575, 58 basesExon 31: 8,790,175–8,790,261, 87 basesExon 32: 8,881,622–8,884,900, 3,279 bases1102030325′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 7.1 kb of the gene's 752.6 kb; 3,651 of those bases code for the protein.

    How a genome test reads PLCB1

    23

    positions in PLCB1 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 752.6 kb of PLCB1, introns included, not only the 7.1 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.). PLCB1 gene: phospholipase C beta 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/plcb1

    Vancouver

    Dante Labs. PLCB1 gene: phospholipase C beta 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/plcb1

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