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Gene

BCL10

BCL10 immune signaling adaptor

Summary

Cytogenetic location
1p22.3
Coordinates
Chromosome 1: 85,265,776–85,276,632 (GRCh38)
Exons
3 exons across 10.9 kb
Protein
233 amino acids
Also known as
CARMEN, CIPER, mE10, c-E10, CLAP
MANE Select transcript
ENST00000648566.1NM_003921.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Other Inborn Errors of Immunity

      • Inborn error of immunity

        One of 114 genes linked to it

        Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

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

        One of 170 genes linked to it

        Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

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

        HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

    How BCL10 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome 1, with a bracket where BCL10 sits. BCL10 and 10 genes near it on chromosome 1, from 84,771,204 to 85,771,203.Chromosome 11p22.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4484.8 Mb85 Mb85.2 Mb85.4 Mb85.6 MbLPAR3: 84,811,541–84,893,540, reverse strandLPAR3MCOLN2: 84,925,583–84,997,139, reverse strandMCOLN2DNAI3: 84,999,147–85,133,274, forward strandDNAI3MCOLN3: 85,018,082–85,048,887, reverse strandMCOLN3SYDE2: 85,156,511–85,201,751, reverse strandSYDE2C1orf52: 85,249,953–85,259,686, reverse strandC1orf52BCL10: 85,265,776–85,276,632, reverse strandBCL10DDAH1: 85,318,481–85,578,363, reverse strandDDAH1CCN1: 85,580,116–85,584,589, forward strandCCN1ZNHIT6: 85,649,417–85,708,433, reverse strandZNHIT6COL24A1: 85,728,508–86,156,943, reverse strandCOL24A1Diagram of BCL10: 3 exons on the reverse strand of chromosome 1Exon 2: 4 known disease-causing sitesExon 1: 1 known disease-causing siteExon 3: 85,265,776–85,267,982, 2,207 basesExon 2: 85,270,618–85,270,906, 289 basesExon 1: 85,276,296–85,276,632, 337 bases3215′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 2.8 kb of the gene's 10.9 kb; 702 of those bases code for the protein.

    Sequencing BCL10

    5

    positions in BCL10 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 10.9 kb of BCL10, introns included, not only the 2.8 kb of exons.

    ClinVar pathogenic variants (5)

    The BCL10 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

    • Pathogenic 5
    VariantConditionsClinVar classificationReview status
    NM_003921.5(BCL10):c.262C>T (p.Arg88Ter) (opens in a new tab)immunodeficiency 37Pathogenic1 star out of 4 criteria provided, single submitter
    NM_003921.5(BCL10):c.217C>T (p.Gln73Ter) (opens in a new tab)immunodeficiency 37Pathogenic1 star out of 4 criteria provided, single submitter
    NM_003921.5(BCL10):c.207dup (p.Asp70fs) (opens in a new tab)immunodeficiency 37Pathogenic1 star out of 4 criteria provided, single submitter
    NM_003921.5(BCL10):c.172C>T (p.Arg58Ter) (opens in a new tab)immunodeficiency 37Pathogenic1 star out of 4 criteria provided, single submitter
    NM_003921.5(BCL10):c.14dup (p.Pro6fs) (opens in a new tab)immunodeficiency 37Pathogenic1 star out of 4 criteria provided, single submitter

    Genes linked to the same conditions

    Traits linked to BCL10

    The Human Phenotype Ontology lists these as features of the rare conditions BCL10 can cause. Each trait's page lists the other genes linked to it.

    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 2026-10-18: 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 2026.10.18-8b139e39.

    Cite this page

    APA

    Dante Labs. (n.d.). BCL10 gene: BCL10 immune signaling adaptor. Retrieved 18 October 2026, from https://dantelabs.com/genes/bcl10

    Vancouver

    Dante Labs. BCL10 gene: BCL10 immune signaling adaptor [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/bcl10

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