MALT1 Chromosome 18
MALT1 paracaspase
Upload your DNA to see your personal genotypes for variants in MALT1.
What This Gene Does
This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018]
Gene Info
Gene Group
"Immunoglobulin like domain containing|CBM complex"
Locus Type
gene with protein product
Location
18q21.32
Ensembl
ENSG00000172175
Associated Conditions (5)
Combined immunodeficiency due to MALT1 deficiency
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Severe combined immunodeficiency disease
Hepatocellular carcinoma
Key Variants
RS140664950
Conflicting classifications of pathogenicity
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
Health Risk
RS200919386
Conflicting classifications of pathogenicity
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
Health Risk
RS371051170
Conflicting classifications of pathogenicity
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
Health Risk
RS541518120
Conflicting classifications of pathogenicity
Combined immunodeficiency due to MALT1 deficiency, Inborn genetic diseases, Combined immunodeficiency due to MALT1 deficiency
Health Risk
RS560703292
Conflicting classifications of pathogenicity
Combined immunodeficiency due to MALT1 deficiency, Inborn genetic diseases, Combined immunodeficiency due to MALT1 deficiency
Health Risk
RS143682914
Likely pathogenic
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
Health Risk
RS1450046707
Likely pathogenic
Combined immunodeficiency due to MALT1 deficiency, Uterine corpus endometrial carcinoma, Combined immunodeficiency due to MALT1 deficiency
Health Risk
RS2144403413
Likely pathogenic
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
Health Risk
RS2144484602
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS2144491203
Likely pathogenic
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
Health Risk
RS786200953
Likely pathogenic
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
Health Risk
RS888212988
Likely pathogenic
Combined immunodeficiency due to MALT1 deficiency, Hepatocellular carcinoma, Combined immunodeficiency due to MALT1 deficiency
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140664950 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS200919386 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS371051170 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS541518120 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to MALT1 deficiency, Inborn genetic diseases, Combined immunodeficiency due to MALT1 deficiency |
| RS560703292 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to MALT1 deficiency, Inborn genetic diseases, Combined immunodeficiency due to MALT1 deficiency |
| RS143682914 | Health Risk | Likely pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS1450046707 | Health Risk | Likely pathogenic | Combined immunodeficiency due to MALT1 deficiency, Uterine corpus endometrial carcinoma, Combined immunodeficiency due to MALT1 deficiency |
| RS2144403413 | Health Risk | Likely pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2144484602 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2144491203 | Health Risk | Likely pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS786200953 | Health Risk | Likely pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS888212988 | Health Risk | Likely pathogenic | Combined immunodeficiency due to MALT1 deficiency, Hepatocellular carcinoma, Combined immunodeficiency due to MALT1 deficiency |
| RS1380219597 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS1568151207 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS1602300615 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2055182636 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2144387739 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2144461109 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2144484668 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2511505737 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2511556441 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2511556556 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2511564239 | Health Risk | Pathogenic | — |
| RS398123058 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS587777337 | Health Risk | Pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS1266114717 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |