MALT1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MALT1 (HGNC:6819) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
MALT1 paracaspase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MLT
Alias symbols
PCASP1
%HI
37.84(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.63(Read more about gnomAD pLI score)
LOEUF
0.58(Read more about gnomAD LOEUF score)
Cytoband
18q21.32
Genomic Coordinates
GRCh37/hg19: chr18:56338697-56421709 NCBI Ensembl UCSC
GRCh38/hg38: chr18:58671465-58754477 NCBI Ensembl UCSC
MANE Select Transcript
NM_006785.4 ENST00000649217.2 (Read more about MANE Select)
Function
Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signaling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:11262391, PubMed:18264101, PubMed:24074955). Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen rec... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27664
ClinGen Curation ID:
CCID:007429
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • combined immunodeficiency due to MALT1 deficiency Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)