Skip to content
Use your HSA or FSA funds

Gene

MALT1

MALT1 paracaspase

Summary

Cytogenetic location
18q21.32
Coordinates
Chromosome 18: 58,671,465–58,754,477 (GRCh38)
Exons
17 exons across 83 kb
Protein
824 amino acids
Also known as
PCASP1
Previous symbols
MLT
MANE Select transcript
ENST00000649217.2NM_006785.4
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

    • Other Inborn Errors of Immunity

      • 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
        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        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 MALT1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 18, with a bracket where MALT1 sits. MALT1 and 4 genes near it on chromosome 18, from 58,212,971 to 59,212,970.Chromosome 1818q21.32p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2358.4 Mb58.6 Mb58.8 Mb59 Mb59.2 MbNEDD4L: 58,043,980–58,401,540, forward strandNEDD4LALPK2: 58,481,241–58,629,247, reverse strandALPK2MALT1: 58,671,465–58,754,477, forward strandMALT1ZNF532: 58,862,600–58,986,480, forward strandZNF532SEC11C: 59,139,470–59,158,850, forward strandSEC11CDiagram of MALT1: 17 exons on the forward strand of chromosome 18Exon 2: 1 known disease-causing siteExon 4: 5 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 11: 3 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 1: 58,671,465–58,671,852, 388 basesExon 2: 58,681,170–58,681,336, 167 basesExon 3: 58,696,366–58,696,487, 122 basesExon 4: 58,700,441–58,700,591, 151 basesExon 5: 58,709,378–58,709,556, 179 basesExon 6: 58,709,976–58,710,072, 97 basesExon 7: 58,710,921–58,710,953, 33 basesExon 8: 58,714,083–58,714,109, 27 basesExon 9: 58,715,935–58,715,967, 33 basesExon 10: 58,723,048–58,723,251, 204 basesExon 11: 58,733,397–58,733,574, 178 basesExon 12: 58,734,307–58,734,381, 75 basesExon 13: 58,735,202–58,735,329, 128 basesExon 14: 58,741,865–58,742,014, 150 basesExon 15: 58,744,338–58,744,495, 158 basesExon 16: 58,745,666–58,745,791, 126 basesExon 17: 58,747,405–58,754,477, 7,073 bases1246810121416175′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 9.3 kb of the gene's 83 kb; 2,475 of those bases code for the protein.

    How a genome test reads MALT1

    22

    positions in MALT1 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 83 kb of MALT1, introns included, not only the 9.3 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.). MALT1 gene: MALT1 paracaspase. Retrieved 16 October 2026, from https://dantelabs.com/genes/malt1

    Vancouver

    Dante Labs. MALT1 gene: MALT1 paracaspase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/malt1

    One test. A lifetime of answers.

    From $449Free shipping · Results in 6–8 weeks

    Get my Genome Test