MALT1 (MALT1 paracaspase)

Gene

• Entrez ID: 10892
• Gene name: MALT1 paracaspase
• Gene symbol: MALT1
• Synonyms (NCBI Gene): IMD12, MLT, MLT1, PCASP1
• Chromosome: 18
• Chromosome location: 18q21.32
• Summary: 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-rece

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777337	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs786200953	A>G	Pathogenic	Splice acceptor variant
rs786200954	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1266114717	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1602300615	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030793	hsa-miR-21-5p	Microarray	18591254
MIRT529444	hsa-miR-409-3p	PAR-CLIP	22012620
MIRT529443	hsa-miR-33a-3p	PAR-CLIP	22012620
MIRT529442	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT529441	hsa-miR-512-3p	PAR-CLIP	22012620
MIRT529440	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT529439	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT529438	hsa-miR-648	PAR-CLIP	22012620
MIRT529437	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT529436	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT529435	hsa-miR-548aj-5p	PAR-CLIP	22012620
MIRT529434	hsa-miR-548f-5p	PAR-CLIP	22012620
MIRT529433	hsa-miR-548g-5p	PAR-CLIP	22012620
MIRT529432	hsa-miR-548x-5p	PAR-CLIP	22012620
MIRT529431	hsa-miR-1468-3p	PAR-CLIP	22012620
MIRT529430	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT529429	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT529428	hsa-miR-6740-5p	PAR-CLIP	22012620
MIRT529427	hsa-miR-4775	PAR-CLIP	22012620
MIRT529426	hsa-miR-4671-3p	PAR-CLIP	22012620
MIRT529425	hsa-miR-4473	PAR-CLIP	22012620
MIRT529424	hsa-miR-548aw	PAR-CLIP	22012620
MIRT529423	hsa-miR-7150	PAR-CLIP	22012620
MIRT529422	hsa-miR-182-5p	PAR-CLIP	22012620
MIRT529421	hsa-miR-1271-5p	PAR-CLIP	22012620
MIRT529420	hsa-miR-96-5p	PAR-CLIP	22012620
MIRT529419	hsa-miR-141-3p	PAR-CLIP	22012620
MIRT529418	hsa-miR-200a-3p	PAR-CLIP	22012620
MIRT529417	hsa-miR-875-5p	PAR-CLIP	22012620
MIRT529416	hsa-miR-668-3p	PAR-CLIP	22012620
MIRT529415	hsa-miR-4777-3p	PAR-CLIP	22012620
MIRT529414	hsa-miR-3192-3p	PAR-CLIP	22012620
MIRT529413	hsa-miR-4762-3p	PAR-CLIP	22012620
MIRT488807	hsa-miR-3714	PAR-CLIP	23592263
MIRT488806	hsa-miR-200b-3p	PAR-CLIP	23592263
MIRT488805	hsa-miR-200c-3p	PAR-CLIP	23592263
MIRT488804	hsa-miR-429	PAR-CLIP	23592263
MIRT488803	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT488802	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT488801	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT488800	hsa-miR-3681-5p	PAR-CLIP	23592263
MIRT488799	hsa-miR-6849-5p	PAR-CLIP	23592263
MIRT488798	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT488796	hsa-miR-3148	PAR-CLIP	23592263
MIRT488797	hsa-miR-6124	PAR-CLIP	23592263
MIRT488795	hsa-miR-548au-3p	PAR-CLIP	23592263
MIRT488794	hsa-miR-6073	PAR-CLIP	23592263
MIRT488793	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT529444	hsa-miR-409-3p	PAR-CLIP	22012620
MIRT529443	hsa-miR-33a-3p	PAR-CLIP	22012620
MIRT529442	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT529441	hsa-miR-512-3p	PAR-CLIP	22012620
MIRT529440	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT529439	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT529438	hsa-miR-648	PAR-CLIP	22012620
MIRT529437	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT529436	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT529435	hsa-miR-548aj-5p	PAR-CLIP	22012620
MIRT529434	hsa-miR-548f-5p	PAR-CLIP	22012620
MIRT529433	hsa-miR-548g-5p	PAR-CLIP	22012620
MIRT529432	hsa-miR-548x-5p	PAR-CLIP	22012620
MIRT529431	hsa-miR-1468-3p	PAR-CLIP	22012620
MIRT529430	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT529429	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT529428	hsa-miR-6740-5p	PAR-CLIP	22012620
MIRT529427	hsa-miR-4775	PAR-CLIP	22012620
MIRT529426	hsa-miR-4671-3p	PAR-CLIP	22012620
MIRT529425	hsa-miR-4473	PAR-CLIP	22012620
MIRT529424	hsa-miR-548aw	PAR-CLIP	22012620
MIRT529423	hsa-miR-7150	PAR-CLIP	22012620
MIRT529422	hsa-miR-182-5p	PAR-CLIP	22012620
MIRT529421	hsa-miR-1271-5p	PAR-CLIP	22012620
MIRT529420	hsa-miR-96-5p	PAR-CLIP	22012620
MIRT529419	hsa-miR-141-3p	PAR-CLIP	22012620
MIRT529418	hsa-miR-200a-3p	PAR-CLIP	22012620
MIRT529417	hsa-miR-875-5p	PAR-CLIP	22012620
MIRT529416	hsa-miR-668-3p	PAR-CLIP	22012620
MIRT529415	hsa-miR-4777-3p	PAR-CLIP	22012620
MIRT529414	hsa-miR-3192-3p	PAR-CLIP	22012620
MIRT529413	hsa-miR-4762-3p	PAR-CLIP	22012620
MIRT488807	hsa-miR-3714	PAR-CLIP	23592263
MIRT488806	hsa-miR-200b-3p	PAR-CLIP	23592263
MIRT488805	hsa-miR-200c-3p	PAR-CLIP	23592263
MIRT488804	hsa-miR-429	PAR-CLIP	23592263
MIRT488803	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT488802	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT488801	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT488800	hsa-miR-3681-5p	PAR-CLIP	23592263
MIRT488799	hsa-miR-6849-5p	PAR-CLIP	23592263
MIRT488798	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT488796	hsa-miR-3148	PAR-CLIP	23592263
MIRT488797	hsa-miR-6124	PAR-CLIP	23592263
MIRT488795	hsa-miR-548au-3p	PAR-CLIP	23592263
MIRT488794	hsa-miR-6073	PAR-CLIP	23592263
MIRT488793	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT1126721	hsa-miR-2682	CLIP-seq
MIRT1126722	hsa-miR-302a	CLIP-seq
MIRT1126723	hsa-miR-302b	CLIP-seq
MIRT1126724	hsa-miR-302c	CLIP-seq
MIRT1126725	hsa-miR-302d	CLIP-seq
MIRT1126726	hsa-miR-302e	CLIP-seq
MIRT1126727	hsa-miR-3150a-5p	CLIP-seq
MIRT1126728	hsa-miR-3150b-5p	CLIP-seq
MIRT1126729	hsa-miR-3647-3p	CLIP-seq
MIRT1126730	hsa-miR-372	CLIP-seq
MIRT1126731	hsa-miR-373	CLIP-seq
MIRT1126732	hsa-miR-380	CLIP-seq
MIRT1126733	hsa-miR-3924	CLIP-seq
MIRT1126734	hsa-miR-4495	CLIP-seq
MIRT1126735	hsa-miR-449c	CLIP-seq
MIRT1126736	hsa-miR-4528	CLIP-seq
MIRT1126737	hsa-miR-519a	CLIP-seq
MIRT1126738	hsa-miR-519b-3p	CLIP-seq
MIRT1126739	hsa-miR-519c-3p	CLIP-seq
MIRT1126740	hsa-miR-520a-3p	CLIP-seq
MIRT1126741	hsa-miR-520b	CLIP-seq
MIRT1126742	hsa-miR-520c-3p	CLIP-seq
MIRT1126743	hsa-miR-520d-3p	CLIP-seq
MIRT1126744	hsa-miR-520e	CLIP-seq
MIRT1126745	hsa-miR-885-5p	CLIP-seq
MIRT1126746	hsa-miR-940	CLIP-seq
MIRT1126747	hsa-miR-3115	CLIP-seq
MIRT1126748	hsa-miR-3137	CLIP-seq
MIRT1126749	hsa-miR-3686	CLIP-seq
MIRT1126750	hsa-miR-4773	CLIP-seq
MIRT1126751	hsa-miR-4778-5p	CLIP-seq
MIRT2035807	hsa-miR-1258	CLIP-seq
MIRT2035808	hsa-miR-141	CLIP-seq
MIRT2035809	hsa-miR-200a	CLIP-seq
MIRT2035810	hsa-miR-3182	CLIP-seq
MIRT2035811	hsa-miR-3607-3p	CLIP-seq
MIRT1126749	hsa-miR-3686	CLIP-seq
MIRT2035812	hsa-miR-4272	CLIP-seq
MIRT2035813	hsa-miR-4476	CLIP-seq
MIRT2035807	hsa-miR-1258	CLIP-seq
MIRT2266236	hsa-miR-1283	CLIP-seq
MIRT2035808	hsa-miR-141	CLIP-seq
MIRT2266237	hsa-miR-181a	CLIP-seq
MIRT2266238	hsa-miR-181b	CLIP-seq
MIRT2266239	hsa-miR-181c	CLIP-seq
MIRT2266240	hsa-miR-181d	CLIP-seq
MIRT2266241	hsa-miR-190	CLIP-seq
MIRT2266242	hsa-miR-190b	CLIP-seq
MIRT2035809	hsa-miR-200a	CLIP-seq
MIRT2266243	hsa-miR-2467-5p	CLIP-seq
MIRT2266244	hsa-miR-27a	CLIP-seq
MIRT2266245	hsa-miR-27b	CLIP-seq
MIRT2266246	hsa-miR-3149	CLIP-seq
MIRT2266247	hsa-miR-3188	CLIP-seq
MIRT2266248	hsa-miR-342-5p	CLIP-seq
MIRT2266249	hsa-miR-369-3p	CLIP-seq
MIRT2266250	hsa-miR-374a	CLIP-seq
MIRT2266251	hsa-miR-374b	CLIP-seq
MIRT2266252	hsa-miR-374c	CLIP-seq
MIRT1126733	hsa-miR-3924	CLIP-seq
MIRT2266253	hsa-miR-3929	CLIP-seq
MIRT2266254	hsa-miR-3975	CLIP-seq
MIRT2266255	hsa-miR-4262	CLIP-seq
MIRT2266256	hsa-miR-4269	CLIP-seq
MIRT2035812	hsa-miR-4272	CLIP-seq
MIRT2266257	hsa-miR-4278	CLIP-seq
MIRT2266258	hsa-miR-4320	CLIP-seq
MIRT2266259	hsa-miR-4328	CLIP-seq
MIRT2266260	hsa-miR-4419b	CLIP-seq
MIRT2266261	hsa-miR-4478	CLIP-seq
MIRT2266262	hsa-miR-450b-5p	CLIP-seq
MIRT2266263	hsa-miR-4514	CLIP-seq
MIRT2266264	hsa-miR-4639-3p	CLIP-seq
MIRT2266265	hsa-miR-4639-5p	CLIP-seq
MIRT2266266	hsa-miR-4649-3p	CLIP-seq
MIRT2266267	hsa-miR-4664-5p	CLIP-seq
MIRT2266268	hsa-miR-4672	CLIP-seq
MIRT2266269	hsa-miR-4692	CLIP-seq
MIRT2266270	hsa-miR-4716-3p	CLIP-seq
MIRT2266271	hsa-miR-4742-5p	CLIP-seq
MIRT2266272	hsa-miR-4803	CLIP-seq
MIRT2266273	hsa-miR-485-5p	CLIP-seq
MIRT2266274	hsa-miR-502-5p	CLIP-seq
MIRT2266275	hsa-miR-507	CLIP-seq
MIRT2266276	hsa-miR-513a-5p	CLIP-seq
MIRT2266277	hsa-miR-548ae	CLIP-seq
MIRT2266278	hsa-miR-548aj	CLIP-seq
MIRT2266279	hsa-miR-548am	CLIP-seq
MIRT2266280	hsa-miR-548x	CLIP-seq
MIRT2266281	hsa-miR-557	CLIP-seq
MIRT2266282	hsa-miR-561	CLIP-seq
MIRT2266283	hsa-miR-568	CLIP-seq
MIRT2266284	hsa-miR-579	CLIP-seq
MIRT2266285	hsa-miR-655	CLIP-seq
MIRT2266286	hsa-miR-668	CLIP-seq
MIRT2035807	hsa-miR-1258	CLIP-seq
MIRT2266248	hsa-miR-342-5p	CLIP-seq
MIRT2266256	hsa-miR-4269	CLIP-seq
MIRT2266257	hsa-miR-4278	CLIP-seq
MIRT2266263	hsa-miR-4514	CLIP-seq
MIRT2266267	hsa-miR-4664-5p	CLIP-seq
MIRT2266269	hsa-miR-4692	CLIP-seq
MIRT2266270	hsa-miR-4716-3p	CLIP-seq
MIRT2266271	hsa-miR-4742-5p	CLIP-seq
MIRT2430947	hsa-miR-300	CLIP-seq
MIRT2430948	hsa-miR-381	CLIP-seq
MIRT2430949	hsa-miR-4666-3p	CLIP-seq
MIRT2430950	hsa-miR-4684-5p	CLIP-seq
MIRT2430951	hsa-miR-4768-5p	CLIP-seq
MIRT2438461	hsa-miR-192	CLIP-seq
MIRT2438462	hsa-miR-200b	CLIP-seq
MIRT2438463	hsa-miR-200c	CLIP-seq
MIRT2438464	hsa-miR-215	CLIP-seq
MIRT2684419	hsa-miR-1265	CLIP-seq
MIRT2684420	hsa-miR-2392	CLIP-seq
MIRT2035810	hsa-miR-3182	CLIP-seq
MIRT2035811	hsa-miR-3607-3p	CLIP-seq
MIRT1126749	hsa-miR-3686	CLIP-seq
MIRT2684421	hsa-miR-3927	CLIP-seq
MIRT2684422	hsa-miR-4650-3p	CLIP-seq
MIRT2684423	hsa-miR-548ag	CLIP-seq
MIRT2684424	hsa-miR-548ai	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0001923	Process	B-1 B cell differentiation	IEA
GO:0002020	Function	Protease binding	IEA
GO:0002096	Component	Polkadots	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002699	Process	Positive regulation of immune effector process	IEA
GO:0002726	Process	Positive regulation of T cell cytokine production	IMP	15125833
GO:0002824	Process	Positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	IEA
GO:0004175	Function	Endopeptidase activity	IBA
GO:0004175	Function	Endopeptidase activity	IDA	31133753
GO:0004197	Function	Cysteine-type endopeptidase activity	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	NAS	11090634
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	14695475, 15125833
GO:0005515	Function	Protein binding	IPI	15125833, 16123224, 16874300, 17948050, 18223652, 19118383, 19444310, 21157432, 22267217, 22528498, 27070702, 27071417, 31774199, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	16123224
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	16123224
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IDA	18223652
GO:0006508	Process	Proteolysis	IEA
GO:0006952	Process	Defense response	NAS	10523859
GO:0008233	Function	Peptidase activity	IDA	18223652
GO:0008233	Function	Peptidase activity	IEA
GO:0009620	Process	Response to fungus	IEA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019209	Function	Kinase activator activity	IMP	15125833
GO:0031398	Process	Positive regulation of protein ubiquitination	NAS	18223652
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IEA
GO:0032449	Component	CBM complex	IDA	28628108
GO:0032449	Component	CBM complex	NAS	15125833
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IMP	22267217
GO:0032743	Process	Positive regulation of interleukin-2 production	IMP	15125833
GO:0032991	Component	Protein-containing complex	IDA	15125833, 22267217
GO:0032991	Component	Protein-containing complex	IEA
GO:0036094	Function	Small molecule binding	EXP	22366302
GO:0042098	Process	T cell proliferation	IEA
GO:0042113	Process	B cell activation	IBA
GO:0042113	Process	B cell activation	IEA
GO:0042802	Function	Identical protein binding	IPI	22158899
GO:0042981	Process	Regulation of apoptotic process	IDA	12819136
GO:0043066	Process	Negative regulation of apoptotic process	NAS	11090634, 11096264
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	18223652
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	18223652
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050852	Process	T cell receptor signaling pathway	IBA
GO:0050852	Process	T cell receptor signaling pathway	IDA	15125833
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050856	Process	Regulation of T cell receptor signaling pathway	IEA
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0051168	Process	Nuclear export	IDA	16123224
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0051603	Process	Proteolysis involved in protein catabolic process	IDA	31133753
GO:0061133	Function	Endopeptidase activator activity	IMP	22267217
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:2000321	Process	Positive regulation of T-helper 17 cell differentiation	IEA
GO:2000321	Process	Positive regulation of T-helper 17 cell differentiation	ISS

Other IDs

• MIM: 604860
• HGNC: 6819
• e!Ensembl: ENSG00000172175

Protein

• UniProt ID: Q9UDY8
• Protein name: Mucosa-associated lymphoid tissue lymphoma translocation protein 1 (EC 3.4.22.-) (MALT lymphoma-associated translocation) (Paracaspase)
• Protein 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
• PDB: 2G7R, 3BFO, 3K0W, 3UO8, 3UOA, 3V4O, 3V55, 4I1P, 4I1R, 6F7I, 6GK2, 6H4A, 6YN8, 6YN9, 7A41, 7AK0, 7AK1, 7PAV, 7PAW, 8CZO, 8J5I, 8V4X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13927	Ig_3	124 → 194		Domain
  PF13895	Ig_2	226 → 308	Immunoglobulin domain	Domain
  PF00656	Peptidase_C14	343 → 560		Domain
  PF18703	MALT1_Ig	583 → 719	MALT1 Ig-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in peripheral blood mononuclear cells. Detected at lower levels in bone marrow, thymus and lymph node, and at very low levels in colon and lung.
• Sequence:

  MSLLGDPLQALPPSAAPTGPLLAPPAGATLNRLREPLLRRLSELLDQAPEGRGWRRLAEL
  AGSRGRLRLSCLDLEQCSLKVLEPEGSPSLCLLKLMGEKGCTVTELSDFLQAMEHTEVLQ
  LLSPPGIKITVNPESKAVLAGQFVKLCCRATGHPFVQYQWFKMNKEIPNGNTSELIFNAV
  HVKDAGFYVCRVNNNFTFEFSQWSQLDVCDIPESFQRSVDGVSESKLQICVEPTSQKLMP
  GSTLVLQCVAVGSPIPHYQWFKNELPLTHETKKLYMVPYVDLEHQGTYWCHVYNDRDSQD
  SKKVEIIIGRTDEAVECTEDELNNLGHPDNKEQTTDQPLAKDKVALLIGNMNYREHPKLK
  APLVDVYELTNLLRQLDFKVVSLLDLTEYEMRNAVDEFLLLLDKGVYGLLYYAGHGYENF
  GNSFMVPVDAPNPYRSENCLCVQNILKLMQEKETGLNVFLLDMCRKRNDYDDTIPILDAL
  KVTANIVFGYATCQGAEAFEIQHSGLANGIFMKFLKDRLLEDKKITVLLDEVAEDMGKCH
  LTKGKQALEIRSSLSEKRALTDPIQGTEYSAESLVRNLQWAKAHELPESMCLKFDCGVQI
  QLGFAAEFSNVMIIYTSIVYKPPEIIMCDAYVTDFPLDLDIDPKDANKGTPEETGSYLVS
  KDLPKHCLYTRLSSLQKLKEHLVFTVCLSYQYSGLEDTVEDKQEVNVGKPLIAKLDMHRG
  LGRKTCFQTCLMSNGPYQSSAATSGGAGHYHSLQDPFHGVYHSHPGNPSNVTPADSCHCS
  RTPDAFISSFAHHASCHFSRSNVPVETTDEIPFSFSDRLRISEK

• Sequence length: 824

Pathways

KEGG:

NF-kappa B signaling pathway
C-type lectin receptor signaling pathway
T cell receptor signaling pathway
B cell receptor signaling pathway
Shigellosis
Tuberculosis

Reactome:

Activation of NF-kappaB in B cells
Downstream TCR signaling
FCERI mediated NF-kB activation
CLEC7A (Dectin-1) signaling
CLEC7A/inflammasome pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Combined immunodeficiency due to MALT1 deficiency	Likely pathogenic; Pathogenic	rs2144403413, rs2144461109, rs587777337, rs2144387739, rs143682914, rs1568151207, rs888212988, rs2144484668, rs2144491203, rs786200953, rs2511556441, rs1450046707, rs2511505737, rs2511556556, rs1266114717, rs1602300615, rs398123058, rs2055182636, rs1380219597	RCV001379087 RCV001380288 RCV000114994 RCV001941662 RCV001996129 RCV001923528 RCV001979519 RCV001956376 RCV002052218 RCV005090186 RCV003015650 RCV003741545 RCV003742212 RCV003742332 RCV000823030 RCV000820459 RCV000056326 RCV001204346 RCV001247056	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs888212988	RCV005925387	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency disease	Likely pathogenic	rs2144484602	RCV001806839	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs1450046707	RCV005931615	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 12	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALT LYMPHOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALT1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27025651		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	14652825, 14681324, 15832193, 16804917, 16917511, 17519619, 18367485, 23716551, 26507244, 26540570, 30474008		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	31168801		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	37704417	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29913212		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31259485		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24971370	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34788483	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35967391	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35353938	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29913212		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12651604, 16353132, 24004675, 25996250, 26787500, 29367251, 29414650, 29759726, 30025160, 30158289, 30979818, 31474984, 31632405, 31659015		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34788483	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	11066071, 11096264, 12560219, 15047736, 15191563, 15598810, 16498450, 16784987, 17519619, 19394813, 21868762, 23523010, 24004675, 24294388, 25790941, 25996250, 26277595, 26400962, 26525107, 26787500, 27105502, 27873317, 29382759, 29759726, 30024860, 31049936, 31291468, 31774199		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	15191563, 18367485		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20558189, 29259013		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	32665124	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15894263	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19738055, 23778523, 23799590		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25982276		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	29371921		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28993409		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27105502, 29901822, 30249750		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	37108564	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	34997981	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29723868		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	23727036, 25627829, 27109639, 31037583, 31313375		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	25627829		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency due to MALT1 deficiency	Immunodeficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10797525, 10979968, 14574335, 14760068, 16512826, 18788851		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	29371921		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	34997981	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31496789		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	31632405		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	26767426		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29077241		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29077241		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25502755	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23727064		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	23727064		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	11493468, 12499431, 14652825, 14681324, 15832193, 16630178, 16804917, 16917511, 17519619, 18234275, 18367485, 18445693, 19897720, 21173233, 22742986, 23018871, 23716551, 24236896, 26507244, 26540570, 27006117, 27070702, 27349720, 27873317, 28038709, 30474008		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG	21173233		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	30158289		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29511377	Associate	★☆☆☆☆ Found in Text Mining only
Gastric lymphoma	Gastric lymphoma	BEFREE	10751367, 19394813		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	15047736	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28286260, 31774199		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38183651	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28286260, 31774199		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31774199		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25130432		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23018871	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	29414650		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 12	Immunodeficiency	UNIPROT_DG	23727036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 12	Immunodeficiency	ORPHANET_DG	23727036, 24332264		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 12	Immunodeficiency	GENOMICS_ENGLAND_DG	25627829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 12	Immunodeficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 12	Immunodeficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30692685, 31037583		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27105502		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34997981, 37108564	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	34273195	Stimulate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	27538487		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36314929	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36314929	Inhibit	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	22752732, 23778523		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	25982276		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10339464, 10702396, 10751343, 10751367, 10907943, 11069033, 11197361, 12931213, 12950026, 15293572, 16512826, 16707452, 16952043, 17525089, 19394813, 21568677, 21868762, 22689981, 22832211, 22842723, 24004675, 25456129, 26400962, 28759024, 28993409, 30024860, 30474008, 31474984		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11262391, 15894263, 16177990, 16891304, 17654058, 26573773, 31980531, 34873224, 37623434	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	14760068		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	19965626	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	17519619, 19965626		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28759024		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	19965626, 27864294		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20558189, 29259013		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25982276		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31291468		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20234124		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15184680, 25130432, 26507244, 26787500, 28993409, 29367251, 29881386, 30214442, 30514565, 31632405		★☆☆☆☆ Found in Text Mining only
MALT lymphoma	MALT Lymphoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	19965626, 27864294		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	10979968, 12560219, 19060847, 28038709, 29765142		★☆☆☆☆ Found in Text Mining only
Mediastinal lymphadenopathy	Mediastinal lymphadenopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28759024		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31496789		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	20695076	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23778523	Inhibit	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	10339464, 10523859, 10626814, 10702396, 10760689, 10797525, 10979968, 11090634, 11096264, 11159207, 11162514, 11197361, 11493468, 11736940, 12079516, 12406890, 12499431, 12560219, 12651604, 12883238, 12931213, 14562112, 14574335, 14603249, 14614598, 14652825, 14674990, 14681324, 14760068, 15150097, 15184680, 15452377, 15540895, 15598810, 15650839, 15682443, 15694184, 15711920, 15832193, 15894263, 16105761, 16123224, 16341151, 16364768, 16395405, 16484127, 16512826, 16572204, 16630178, 16707452, 16784987, 16804917, 16917511, 16952043, 17199743, 17222250, 17287209, 17334352, 17339192, 17525089, 17654058, 17894851, 18158571, 18234275, 18445693, 18927281, 18931663, 19060847, 19178392, 19279678, 19738055, 19897720, 19965626, 20081812, 20518898, 20520640, 20621192, 21048983, 21568677, 21757570, 21868762, 22752732, 22832211, 22842723, 23523010, 23727036, 23778523, 23799590, 24236896, 24867288, 25569716, 25982276, 26767426, 27253662, 27349720, 27452667, 27600807, 28038709, 28194024, 28253538, 28288707, 28759024, 28928392, 28970731, 29765142, 30025160, 30249750, 31133753, 31313375, 31774199, 31791579		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	LHGDN	11960389, 12651604, 12931213, 15363040, 15696476, 15982633, 16341151, 16395399, 16630178, 17894851		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16461302		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28253538		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	28253538	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	12883238, 14562112, 15047736, 16395399, 16917511, 17607378, 17610471, 18820662, 19738055, 19897720, 21465313, 23720088, 23778523, 25982276, 25996250, 27600807, 28759024, 30024860, 31291468, 31644910		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35622982	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31259485, 31313375		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31420608		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35132075	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31291468		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	35712915	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35712915	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	25130432, 25384343		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	16009945		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20234124		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37047218	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	27071417	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	27113748, 27939769		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24971370, 28928392, 30513612, 31259485		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	22984568	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	35262976	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	26767426	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31496789		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17894851		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19060847	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	12499431		★☆☆☆☆ Found in Text Mining only
Trisomy	Trisomy	Pubtator	35705274	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis, Posterior	Uveitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	17654058, 18670352		★☆☆☆☆ Found in Text Mining only