GenTIGS

BCL10 immune signaling adaptor (BCL10) Associated conditions: 1. Sezary syndrome 2. Mucosa-associated lymphoma

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001320715.2	NP_001307644.1	NC_000001.11	(85265775..85276631, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_003921.5	NP_003912.1	NC_000001.11	(85265775..85276631, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1205 reference articles

Variant Information BCL10 immune signaling adaptor (BCL10) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene BCL10 immune signaling adaptor (BCL10)

ClinVar variants:Revealing mutagenic patterns

GO Term of BCL10 immune signaling adaptor (BCL10)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	located_in	immunological synapse	Component	-
2	Homo sapiens	IEA	involved_in	positive regulation of cytokine production	Process	-
3	Homo sapiens	IEA	involved_in	neural tube closure	Process	-
4	Homo sapiens	ISS	involved_in	neural tube closure	Process	11163238
5	Homo sapiens	IPI	enables	protease binding	Function	18223652
6	Homo sapiens	IEA	part_of	polkadots	Component	-
7	Homo sapiens	IDA	involved_in	toll-like receptor signaling pathway	Process	16831874
8	Homo sapiens	IBA	involved_in	adaptive immune response	Process	-
9	Homo sapiens	IEA	involved_in	adaptive immune response	Process	-
10	Homo sapiens	IMP	involved_in	adaptive immune response	Process	25365219
11	Homo sapiens	TAS	involved_in	adaptive immune response	Process	16831874
12	Homo sapiens	IEA	involved_in	immune system process	Process	-
13	Homo sapiens	IDA	involved_in	negative regulation of mature B cell apoptotic process	Process	15878976
14	Homo sapiens	IBA	enables	transcription coactivator activity	Function	-
15	Homo sapiens	IDA	enables	transcription coactivator activity	Function	15207693
16	Homo sapiens	IPI	enables	protein binding	Function	10187771 11053425 11259443 11278692 11466612 11472070 12154360 14695475 15637807 16280327 16809782 16831874 17052756 17363905 17948050 18287044 19118383 19444310 19815501 21157432 22267217 22528498 24412244 25011391 25416956 25910212 26488816 27070702 27071417 27107012 31296852 31774199 32296183 33961781 40205054
17	Homo sapiens	IDA	located_in	nucleus	Component	16280327
18	Homo sapiens	IDA	located_in	cytoplasm	Component	11021819 11053425 11238466 11278692 15082780
19	Homo sapiens	IEA	located_in	cytoplasm	Component	-
20	Homo sapiens	IDA	located_in	lysosome	Component	15082780
21	Homo sapiens	IBA	is_active_in	cytosol	Component	-
22	Homo sapiens	IDA	located_in	cytosol	Component	12154360 16831874
23	Homo sapiens	IEA	located_in	cytosol	Component	-
24	Homo sapiens	TAS	located_in	cytosol	Component	-
25	Homo sapiens	IDA	located_in	cytoplasmic microtubule	Component	23264731
26	Homo sapiens	IEA	involved_in	apoptotic process	Process	-
27	Homo sapiens	IDA	involved_in	programmed cell death	Process	10400625
28	Homo sapiens	IBA	contributes_to	kinase activator activity	Function	-
29	Homo sapiens	IDA	contributes_to	kinase activator activity	Function	15125833
30	Homo sapiens	IDA	enables	protein-macromolecule adaptor activity	Function	15125833
31	Homo sapiens	IDA	involved_in	positive regulation of protein ubiquitination	Process	14695475
32	Homo sapiens	IPI	enables	ubiquitin protein ligase binding	Function	16395405
33	Homo sapiens	IDA	involved_in	lipopolysaccharide-mediated signaling pathway	Process	16831874
34	Homo sapiens	IDA	involved_in	response to food	Process	17095757
35	Homo sapiens	IBA	part_of	CBM complex	Component	-
36	Homo sapiens	IDA	part_of	CBM complex	Component	24074955 28628108
37	Homo sapiens	IEA	part_of	CBM complex	Component	-
38	Homo sapiens	NAS	part_of	CBM complex	Component	15125833
39	Homo sapiens	IEA	involved_in	response to lipopolysaccharide	Process	-
40	Homo sapiens	NAS	acts_upstream_of	positive regulation of interleukin-6 production	Process	16647297
41	Homo sapiens	IMP	involved_in	positive regulation of interleukin-8 production	Process	17095757
42	Homo sapiens	NAS	acts_upstream_of	positive regulation of lymphotoxin A production	Process	16647297
43	Homo sapiens	NAS	acts_upstream_of	positive regulation of mast cell cytokine production	Process	16647297
44	Homo sapiens	IDA	part_of	protein-containing complex	Component	14695475 16280327 22267217
45	Homo sapiens	IEA	part_of	protein-containing complex	Component	-
46	Homo sapiens	IEA	enables	signaling adaptor activity	Function	-
47	Homo sapiens	IEA	involved_in	non-canonical NF-kappaB signal transduction	Process	-
48	Homo sapiens	IEA	enables	identical protein binding	Function	-
49	Homo sapiens	IPI	enables	identical protein binding	Function	10187771 25416956 32296183
50	Homo sapiens	ISS	enables	identical protein binding	Function	16831874
51	Homo sapiens	IEA	involved_in	regulation of apoptotic process	Process	-
52	Homo sapiens	IDA	involved_in	positive regulation of apoptotic process	Process	11821383
53	Homo sapiens	IEA	involved_in	positive regulation of apoptotic process	Process	-
54	Homo sapiens	NAS	involved_in	regulation of canonical NF-kappaB signal transduction	Process	19118383 27071417 30467369
55	Homo sapiens	IDA	involved_in	positive regulation of canonical NF-kappaB signal transduction	Process	10400625 14695475 18287044 24074955 27777308
56	Homo sapiens	IEA	involved_in	positive regulation of canonical NF-kappaB signal transduction	Process	-
57	Homo sapiens	IEP	involved_in	positive regulation of canonical NF-kappaB signal transduction	Process	12761501
58	Homo sapiens	IBA	enables	protein kinase B binding	Function	-
59	Homo sapiens	IPI	enables	protein kinase B binding	Function	16280327
60	Homo sapiens	IEA	enables	protein-containing complex binding	Function	-
61	Homo sapiens	IEA	involved_in	innate immune response	Process	-
62	Homo sapiens	IEP	involved_in	innate immune response	Process	16831874
63	Homo sapiens	IEA	located_in	membrane raft	Component	-
64	Homo sapiens	IDA	involved_in	positive regulation of DNA-templated transcription	Process	15207693
65	Homo sapiens	IDA	located_in	perinuclear region of cytoplasm	Component	16127295
66	Homo sapiens	IEA	located_in	perinuclear region of cytoplasm	Component	-
67	Homo sapiens	IEA	enables	CARD domain binding	Function	-
68	Homo sapiens	IDA	involved_in	T cell receptor signaling pathway	Process	15125833
69	Homo sapiens	IDA	involved_in	positive regulation of T cell receptor signaling pathway	Process	18287044 27777308
70	Homo sapiens	IBA	enables	NF-kappaB binding	Function	-
71	Homo sapiens	IDA	enables	NF-kappaB binding	Function	16280327
72	Homo sapiens	IDA	involved_in	protein homooligomerization	Process	24074955
73	Homo sapiens	IEA	involved_in	antifungal innate immune response	Process	-
74	Homo sapiens	ISS	involved_in	antifungal innate immune response	Process	-
75	Homo sapiens	IEP	involved_in	cellular response to lipopolysaccharide	Process	16831874
76	Homo sapiens	IEP	involved_in	cellular response to mechanical stimulus	Process	19593445
77	Homo sapiens	IMP	involved_in	apoptotic signaling pathway	Process	22267217
78	Homo sapiens	IPI	enables	general transcription initiation factor binding	Function	15207693
79	Homo sapiens	IBA	involved_in	positive regulation of extrinsic apoptotic signaling pathway	Process	-
80	Homo sapiens	IDA	involved_in	positive regulation of extrinsic apoptotic signaling pathway	Process	11466612