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	O95999
2	REVIEWED	NM_003921.5	NP_003912.1	NC_000001.11	(85265775..85276631, complement)	Reference GRCh38.p14 Primary Assembly	O95999

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 1199 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	B cell apoptotic process	Process	-
3	Homo sapiens	ISS	involved_in	neural tube closure	Process	11163238
4	Homo sapiens	IPI	enables	protease binding	Function	18223652
5	Homo sapiens	IEA	part_of	polkadots	Component	-
6	Homo sapiens	IDA	involved_in	toll-like receptor signaling pathway	Process	16831874
7	Homo sapiens	IBA	involved_in	adaptive immune response	Process	21873635
8	Homo sapiens	IMP	involved_in	adaptive immune response	Process	25365219
9	Homo sapiens	TAS	involved_in	adaptive immune response	Process	16831874
10	Homo sapiens	IDA	involved_in	negative regulation of mature B cell apoptotic process	Process	15878976
11	Homo sapiens	IBA	enables	transcription coactivator activity	Function	21873635
12	Homo sapiens	IDA	enables	transcription coactivator activity	Function	15207693
13	Homo sapiens	IPI	enables	protein binding	Function	10187771 11053425 11259443 11278692 11466612 11472070 12154360 14695475 16280327 16809782 16831874 17052756 17363905 17948050 18287044 19118383 19444310 19815501 21157432 22267217 22528498 24412244 25011391 25416956 25910212 26488816 27070702 27107012 31296852 31774199 32296183
14	Homo sapiens	IDA	located_in	nucleus	Component	16280327
15	Homo sapiens	IDA	located_in	cytoplasm	Component	11021819 11053425 11238466 11278692 15082780
16	Homo sapiens	IDA	located_in	lysosome	Component	15082780
17	Homo sapiens	IBA	is_active_in	cytosol	Component	21873635
18	Homo sapiens	IDA	located_in	cytosol	Component	12154360 16831874
19	Homo sapiens	TAS	located_in	cytosol	Component	-
20	Homo sapiens	IDA	located_in	cytoplasmic microtubule	Component	23264731
21	Homo sapiens	IEA	involved_in	cellular defense response	Process	-
22	Homo sapiens	IBA	involved_in	canonical NF-kappaB signal transduction	Process	21873635
23	Homo sapiens	IDA	involved_in	programmed cell death	Process	10400625
24	Homo sapiens	IEA	involved_in	immunoglobulin mediated immune response	Process	-
25	Homo sapiens	IBA	contributes_to	kinase activator activity	Function	21873635
26	Homo sapiens	IDA	contributes_to	kinase activator activity	Function	15125833
27	Homo sapiens	IDA	involved_in	positive regulation of protein ubiquitination	Process	14695475
28	Homo sapiens	IPI	enables	ubiquitin protein ligase binding	Function	16395405
29	Homo sapiens	IDA	involved_in	lipopolysaccharide-mediated signaling pathway	Process	16831874
30	Homo sapiens	IDA	involved_in	response to food	Process	17095757
31	Homo sapiens	IBA	part_of	CBM complex	Component	21873635
32	Homo sapiens	IDA	part_of	CBM complex	Component	24074955 28628108
33	Homo sapiens	NAS	part_of	CBM complex	Component	15125833
34	Homo sapiens	NAS	acts_upstream_of	positive regulation of interleukin-6 production	Process	16647297
35	Homo sapiens	IMP	involved_in	positive regulation of interleukin-8 production	Process	17095757
36	Homo sapiens	NAS	acts_upstream_of	positive regulation of lymphotoxin A production	Process	16647297
37	Homo sapiens	NAS	acts_upstream_of	positive regulation of mast cell cytokine production	Process	16647297
38	Homo sapiens	IDA	part_of	protein-containing complex	Component	14695475 16280327 22267217
39	Homo sapiens	IDA	involved_in	positive regulation of phosphorylation	Process	15125833
40	Homo sapiens	IPI	enables	identical protein binding	Function	10187771 25416956 32296183
41	Homo sapiens	ISS	enables	identical protein binding	Function	16831874
42	Homo sapiens	IDA	involved_in	positive regulation of apoptotic process	Process	11821383
43	Homo sapiens	IDA	involved_in	positive regulation of canonical NF-kappaB signal transduction	Process	18287044 27777308
44	Homo sapiens	IEP	involved_in	positive regulation of canonical NF-kappaB signal transduction	Process	12761501
45	Homo sapiens	IMP	involved_in	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	Process	22267217
46	Homo sapiens	IBA	enables	protein kinase B binding	Function	21873635
47	Homo sapiens	IPI	enables	protein kinase B binding	Function	16280327
48	Homo sapiens	IDA	enables	protein self-association	Function	24074955
49	Homo sapiens	IPI	enables	protein self-association	Function	15125833
50	Homo sapiens	IEA	enables	protein-containing complex binding	Function	-
51	Homo sapiens	IEP	involved_in	innate immune response	Process	16831874
52	Homo sapiens	IEA	located_in	membrane raft	Component	-
53	Homo sapiens	IDA	involved_in	positive regulation of DNA-templated transcription	Process	15207693
54	Homo sapiens	IDA	located_in	perinuclear region of cytoplasm	Component	16127295
55	Homo sapiens	IEA	enables	CARD domain binding	Function	-
56	Homo sapiens	IDA	involved_in	T cell receptor signaling pathway	Process	15125833
57	Homo sapiens	IDA	involved_in	positive regulation of T cell receptor signaling pathway	Process	18287044 27777308
58	Homo sapiens	IEA	involved_in	positive regulation of T cell activation	Process	-
59	Homo sapiens	IBA	enables	NF-kappaB binding	Function	21873635
60	Homo sapiens	IDA	enables	NF-kappaB binding	Function	16280327
61	Homo sapiens	IDA	involved_in	positive regulation of NF-kappaB transcription factor activity	Process	10400625 14695475 18287044 24074955 27777308
62	Homo sapiens	IDA	involved_in	protein homooligomerization	Process	24074955
63	Homo sapiens	ISS	involved_in	antifungal innate immune response	Process	-
64	Homo sapiens	IEA	involved_in	T cell apoptotic process	Process	-
65	Homo sapiens	IEP	involved_in	cellular response to lipopolysaccharide	Process	16831874
66	Homo sapiens	IEP	involved_in	cellular response to mechanical stimulus	Process	19593445
67	Homo sapiens	IPI	enables	general transcription initiation factor binding	Function	15207693
68	Homo sapiens	IBA	involved_in	positive regulation of extrinsic apoptotic signaling pathway	Process	21873635
69	Homo sapiens	IDA	involved_in	positive regulation of extrinsic apoptotic signaling pathway	Process	11466612