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This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are tho... See more...
Aliases for BCL10 Gene
Aliases for BCL10 Gene
- BCL10 Immune Signaling Adaptor 2 3 5
- CIPER 2 3 4
- C-E10 2 3 4
- CLAP 2 3 4
- ME10 2 3 4
- CED-3/ICH-1 Prodomain Homologous E10-Like Regulator 3 4
- Mammalian CARD-Containing Adapter Molecule E10 3 4
- CARD-Containing Molecule Enhancing NF-Kappa-B 3 4
- Caspase-Recruiting Domain-Containing Protein 2 3
- CARD-Containing Apoptotic Signaling Protein 2 3
- CARD Containing Molecule Enhancing NF-KB 2 3
- CARD-Containing Proapoptotic Protein 2 3
External Ids for BCL10 Gene
- HGNC: 989
- Entrez Gene: 8915
- Ensembl: ENSG00000142867
- OMIM: 603517
- UniProtKB: O95999
Previous GeneCards Identifiers for BCL10 Gene
- GC01M086131
- GC01M084873
- GC01M085020
- GC01M085154
- GC01M085443
- GC01M085731
- GC01M083842
Summaries for BCL10 Gene
-
This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
GeneCards Summary for BCL10 Gene
BCL10 (BCL10 Immune Signaling Adaptor) is a Protein Coding gene. Diseases associated with BCL10 include Lymphoma, Mucosa-Associated Lymphoid Type and Immunodeficiency 37. Among its related pathways are B cell receptor signaling pathway (KEGG) and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and transcription factor binding.
UniProtKB/Swiss-Prot Summary for BCL10 Gene
-
Involved in adaptive immune response (PubMed:25365219). Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK. May be an adapter protein between upstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAP complex. Is a substrate for MALT1 (PubMed:18264101).
Additional gene information for BCL10 Gene
- HGNC(989)
- Entrez Gene(8915)
- Ensembl(ENSG00000142867)
- OMIM(603517)
- UniProtKB(O95999)
- Open Targets Platform(ENSG00000142867)
- Monarch Initiative
- Search for BCL10 at DataMed
- Search for BCL10 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCL10 Gene
Genomics for BCL10 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BCL10 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BCL10 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCL10
- Top Transcription factor binding sites by QIAGEN in the BCL10 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- FAC1
- HNF-3beta
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- RelA
- STAT3
Genomic Locations for BCL10 Gene
Genomic Locations for BCL10 Gene
- chr1:85,265,776-85,276,632
- (GRCh38/hg38)
- Size:
- 10,857 bases
- Orientation:
- Minus strand
- chr1:85,731,459-85,742,773
- (GRCh37/hg19)
- Size:
- 11,315 bases
- Orientation:
- Minus strand
Genomic View for BCL10 Gene
Genes around BCL10 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p22.3 by HGNC
- 1p22.3 by Entrez Gene
- 1p22.3 by Ensembl
BCL10 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BCL10 Gene
Proteins for BCL10 Gene
-
Protein details for BCL10 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O95999-BCL10_HUMAN
- Recommended name:
- B-cell lymphoma/leukemia 10
- Protein Accession:
- O95999
- Q5VUF1
Protein attributes for BCL10 Gene
- Size:
- 233 amino acids
- Molecular mass:
- 26252 Da
- Quaternary structure:
-
- Found in a membrane raft complex, at least composed of BCL10, CARD11, DPP4 and IKBKB. Self-associates by CARD-CARD interaction and forms a tight complex with MALT1. Interacts with other CARD-proteins such as CARD9, CARD10, CARD11 and CARD14. Forms a complex with CARD14 and MALT1; resulting in the formation of a CBM (CARD14-BCL10-MALT1) complex (PubMed:27113748). Binds caspase-9 with its C-terminal domain. Interacts with TRAF2 and BIRC2/c-IAP2. Interacts with PELI2 and SOCS3; these interactions may be mutually exclusive (By similarity). Interacts with CARD11 and MALT1; as part of a CBM (CARD11-BCL10-MALT1) complex involved in NF-kappa-B activation.
Protein Expression for BCL10 Gene
Post-translational modifications for BCL10 Gene
- Phosphorylated. Phosphorylation results in dissociation from TRAF2 and binding to BIRC2/c-IAP2. Phosphorylated by IKBKB/IKKB.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for BCL10 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences BCL10 / BCL-10 Antibody
- GeneTex Anti-BCL10 antibody and Anti-BCL10 antibody [N1C3]
- NSJ Bioreagents Bcl10 Antibody (Recombinant Rabbit Monoclonal)
- BioLegend BCL10 Antibody
-
Custom Antibody ServicesOriGene Antibodies for BCL10
- AM00009PU-N
- AM06073PU-N
- AM32814PU-S
- AM32814PU-T
- AM33259PU-S
- AM33259PU-T
- AP05093PU-N
- AP07848PU-N
- AP50354PU-N
- CF501237
- CF502233
- CF800445
- CF800446
- CF800447
- CF800450
- CF800451
- CF800455
- CF800465
- CF800466
- CF800515
- CF800518
- CF800550
- TA306011
- TA326930
- TA336655
- TA349706
- TA352997L
- TA354372
- TA400004
- TA400005
- TA501237
- TA501237S
- TA502233
- TA502233S
- TA800445
- TA800445S
- TA800446
- TA800446S
- TA800447
- TA800447S
- TA800450
- TA800450S
- TA800451
- TA800451S
- TA800455
- TA800455S
- TA800465
- TA800465S
- TA800466
- TA800466S
- TA800515
- TA800515S
- TA800518
- TA800518S
- TA800550
- TA800550S
- Novus Biologicals Antibodies for BCL10
-
Abcam antibodies for BCL10
- Invitrogen Antibodies for BCL10 (AFLGC-BCL10)
- antibodies-online: Show 72 available BCL10 Antibodies ranked by validation data
-
Custom Antibody ServicesProSci Antibodies for BCL10
-
Santa Cruz Biotechnology (SCBT) Antibodies for BCL10
- Sino Biological Antibodies for BCL10
Protein Products
-
OriGene Purified Proteins for BCL10
- Search Origene for MassSpec and Protein Over-expression Lysates for BCL10
- Origene Custom Protein Services for BCL10
- ProSpec Recombinant Proteins for BCL10
-
Abcam proteins for BCL10
Assay Products
- G Biosciences Immunotag™ B-cell lymphoma/leukemia 10 ELISA Kit
- RayBiotech Custom Human BCL-10 ELISA
- Novus Biologicals ELISA Kits for BCL10
-
Signalway ELISA kits for BCL10
No data available for DME Specific Peptides for BCL10 Gene
Domains & Families for BCL10 Gene
Gene Families for BCL10 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
Protein Domains for BCL10 Gene
- InterPro:
- Blocks:
-
- CARD interaction domain
- ProtoNet:
Suggested Antigen Peptide Sequences for BCL10 Gene
- GenScript: Design optimal peptide antigens:
-
- Mutant B-cell CLL/lymphoma 10 (A2TDT2_HUMAN)
- Mammalian CARD-containing adapter molecule E10 (BCL10_HUMAN)
- cDNA FLJ75937, highly similar to Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA (Q5VUF1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BCL10 Gene
Function for BCL10 Gene
Molecular function for BCL10 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in adaptive immune response (PubMed:25365219). Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK. May be an adapter protein between upstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAP complex. Is a substrate for MALT1 (PubMed:18264101).
- GENATLAS Biochemistry:
- CARD containing apoptotic signaling protein,B cell CLL/lymphoma 10,cellular homolog of equine herpesvirus-2 E10 gene,inducing NFKB activation
Phenotypes From GWAS Catalog for BCL10 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IPI | 18223652 |
| GO:0003713 | transcription coactivator activity | IBA,IDA | 15207693 |
| GO:0005515 | protein binding | IPI | 10187771 |
| GO:0008022 | protein C-terminus binding | IPI | 11053425 |
| GO:0008134 | transcription factor binding | IPI | 15207693 |
Phenotypes for BCL10 Gene
- MGI mutant phenotypes for BCL10:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for BCL10:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased HPV18 LCR reporter activity
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased replication of vaccinia virus (VACV)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BCL10 - Select products 50% OFF >
- * BCL10 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BCL10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCL10
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCL10
miRNA for BCL10 Gene
- miRTarBase miRNAs that target BCL10
-
- hsa-miR-340-5p (MIRT019608)
- hsa-miR-375 (MIRT019968)
- hsa-miR-33a-5p (MIRT028199)
- hsa-miR-100-5p (MIRT048426)
- hsa-miR-106a-5p (MIRT053389)
- hsa-miR-3607-3p (MIRT080491)
- hsa-miR-1306-5p (MIRT290873)
- mmu-miR-511-3p (MIRT595396)
- hsa-miR-2681-5p (MIRT660337)
- hsa-miR-574-5p (MIRT660338)
- hsa-miR-4738-3p (MIRT660339)
- hsa-miR-6513-5p (MIRT669360)
- hsa-miR-887-5p (MIRT669361)
- hsa-miR-3913-5p (MIRT669362)
- hsa-miR-3122 (MIRT669363)
- hsa-miR-450a-1-3p (MIRT669364)
- hsa-miR-1229-5p (MIRT669365)
- hsa-miR-6788-5p (MIRT669366)
- hsa-miR-30c-2-3p (MIRT669367)
- hsa-miR-30c-1-3p (MIRT669368)
- hsa-miR-3686 (MIRT669369)
- hsa-miR-3132 (MIRT669370)
- hsa-miR-197-5p (MIRT669371)
- hsa-miR-6861-5p (MIRT669372)
- hsa-miR-383-3p (MIRT669373)
- hsa-miR-4717-5p (MIRT669374)
- hsa-miR-21-5p (MIRT732460)
- hsa-miR-34a-5p (MIRT733971)
- hsa-miR-1273h-5p (MIRT762020)
- hsa-miR-149-3p (MIRT762768)
- hsa-miR-1827 (MIRT763013)
- hsa-miR-1910-3p (MIRT763264)
- hsa-miR-2114-3p (MIRT763798)
- hsa-miR-298 (MIRT764353)
- hsa-miR-30b-3p (MIRT764558)
- hsa-miR-3612 (MIRT765884)
- hsa-miR-3689a-3p (MIRT766786)
- hsa-miR-3689b-3p (MIRT766874)
- hsa-miR-3689c (MIRT766962)
- hsa-miR-455-3p (MIRT770272)
- hsa-miR-4728-5p (MIRT771683)
- hsa-miR-495-5p (MIRT772778)
- hsa-miR-6499-3p (MIRT776202)
- hsa-miR-650 (MIRT776642)
- hsa-miR-6511a-5p (MIRT776762)
- hsa-miR-6516-5p (MIRT777067)
- hsa-miR-6779-5p (MIRT778863)
- hsa-miR-6780a-5p (MIRT778954)
- hsa-miR-6785-5p (MIRT779093)
- hsa-miR-6799-5p (MIRT779384)
- hsa-miR-6823-3p (MIRT779868)
- hsa-miR-6871-5p (MIRT780699)
- hsa-miR-6883-5p (MIRT780889)
- hsa-miR-7106-5p (MIRT781320)
- hsa-miR-4455 (MIRT785912)
- hsa-miR-4668-5p (MIRT786362)
- hsa-miR-4743-5p (MIRT786595)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCL10
- Browse OriGene Inhibitory RNA Products For BCL10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCL10
Clone Products
- Applied Biological Materials (abm): Clones for BCL10 - Select products 50% OFF >
- * BCL10 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for BCL10
- Addgene plasmids for BCL10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCL10
Cell Line Products
-
Horizon Cell Lines for BCL10
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BCL10 Gene
Localization for BCL10 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BCL10 Gene
- Cytoplasm, perinuclear region. Membrane raft. Note=Appears to have a perinuclear, compact and filamentous pattern of expression. Also found in the nucleus of several types of tumor cells. Colocalized with DPP4 in membrane rafts.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| lysosome | 5 |
| plasma membrane | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001772 | immunological synapse | IEA | -- |
| GO:0002096 | polkadots | IEA | -- |
| GO:0005634 | nucleus | IDA | 16280327 |
| GO:0005737 | cytoplasm | IEA,IDA | 11021819 |
| GO:0005764 | lysosome | IDA | 15082780 |
Pathways & Interactions for BCL10 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | B cell receptor signaling pathway (KEGG) | ||
| 2 | T cell receptor signaling pathway | ||
| 3 | C-type lectin receptor signaling pathway | ||
| 4 | B Cell Receptor Signaling Pathway (sino) | ||
| 5 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
|
TCR Signaling
.68
|
Pathways by source for BCL10 Gene
3 Sino Biological pathways for BCL10 Gene
7 BioSystems pathways for BCL10 Gene
16 Reactome pathways for BCL10 Gene
1 GeneGo (Thomson Reuters) pathway for BCL10 Gene
- Immune response T cell receptor signaling pathway
1 R&D Systems pathway for BCL10 Gene
6 Qiagen pathways for BCL10 Gene
- CD28 Signaling in T-Helper Cell
- GPCR Pathway
- NF-KappaB Family Pathway
- PI3K Signaling in B-Lymphocyte
- PKC-Theta Pathway
2 Cell Signaling Technology pathways for BCL10 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001783 | B cell apoptotic process | IEA | -- |
| GO:0001843 | neural tube closure | IEA,ISS | 11163238 |
| GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
| GO:0002224 | toll-like receptor signaling pathway | IDA | 16831874 |
| GO:0002250 | adaptive immune response | IBA,TAS | 16831874 |
Transcripts for BCL10 Gene
mRNA/cDNA for BCL10 Gene
- 2 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000648566 2833 nts (view in UCSC)
- ENST00000620248 776 nts (view in UCSC)
- ENST00000650582 1131 nts (view in UCSC)
- ENST00000649434 573 nts (view in UCSC)
- ENST00000649060 1561 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BCL10 - Select products 50% OFF >
- * BCL10 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BCL10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCL10
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCL10
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCL10
- Browse OriGene Inhibitory RNA Products For BCL10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCL10
Clone Products
- Applied Biological Materials (abm): Clones for BCL10 - Select products 50% OFF >
- * BCL10 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for BCL10
- Addgene plasmids for BCL10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCL10
Relevant External Links for BCL10 Gene
- GeneLoc Exon Structure for
- BCL10
Expression for BCL10 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
This gene is overexpressed in Cervix (15.3), Lymph node (8.6), and Blymphocyte (8.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCL10 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCL10
SOURCE GeneReport for Unigene cluster for BCL10 Gene:
Hs.193516mRNA Expression by UniProt/SwissProt for BCL10 Gene:
O95999-BCL10_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for BCL10 Gene
- Spleen(4.6)
- Eye(4.3)
- Blood(3.2)
- Lymph node(2.8)
- Intestine(2.7)
- Skin(2.6)
- Nervous system(2.5)
- Bone marrow(2.5)
- Kidney(2.5)
- Stomach(2.5)
- Lung(2.4)
- Liver(2.4)
- Heart(2.4)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL10 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
Regions:
Head and neck:
- brain
- head
Abdomen:
- spleen
- stomach
General:
- blood
- bone marrow
- lymph node
- skin
- sweat gland
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for BCL10
-
OriGene qPCR primer pairs and template standards for BCL10
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for BCL10 Gene
Orthologs for BCL10 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BCL10 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BCL10 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BCL10 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bcl10 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bcl10 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | BCL10 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BCL10 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BCL10 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BCL10 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcl10 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100334750 30 |
|
||
| bcl10 31 |
|
OneToOne |
- Species where no ortholog for BCL10 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for BCL10 Gene
- ENSEMBL:
- Gene Tree for BCL10 (if available)
- TreeFam:
- Gene Tree for BCL10 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BCL10: view image
Paralogs for BCL10 Gene
No data available for Paralogs for BCL10 Gene
Variants for BCL10 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCL10 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 644239 | Uncertain Significance: Immunodeficiency 37 | 85,267,959(-) | G/C | MISSENSE_VARIANT,INTRON_VARIANT | |
| 651016 | Uncertain Significance: Immunodeficiency 37 | 85,270,813(-) | C/G | MISSENSE_VARIANT | |
| 652565 | Uncertain Significance: Immunodeficiency 37 | 85,267,635(-) | G/A | NONSENSE | |
| 744757 | Likely Benign: not provided | 85,267,986(-) | C/A | INTRON_VARIANT | |
| 750570 | Likely Benign: not provided | 85,267,939(-) | C/T | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.43;
71.36% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BCL10 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL10 Gene
Disorders for BCL10 Gene
(36) MalaCards diseases for BCL10 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lymphoma, mucosa-associated lymphoid type |
|
|
| immunodeficiency 37 |
|
|
| mesothelioma, malignant |
|
|
| testicular germ cell tumor |
|
|
| follicular lymphoma |
|
Search BCL10 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
BCL10_HUMAN- Note=A chromosomal aberration involving BCL10 is recurrent in low-grade mucosa-associated lymphoid tissue (MALT lymphoma). Translocation t(1;14)(p22;q32). Although the BCL10/IgH translocation leaves the coding region of BCL10 intact, frequent BCL10 mutations could be attributed to the Ig somatic hypermutation mechanism resulting in nucleotide transitions.
- Immunodeficiency 37 (IMD37) [MIM:616098]: A form of primary combined immunodeficiency, a group of disorders characterized by severe recurrent infections, with normal numbers or an absence of T and B lymphocytes, and impaired cellular and humoral immunity. IMD37 is characterized by hypogammaglobulinemia without lymphopenia, but with profoundly reduced memory B cells and memory T cells, and increased numbers of circulating naive lymphocytes. Inheritance is autosomal recessive. {ECO:0000269 PubMed:25365219}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Lymphoma, mucosa-associated lymphoid type (MALTOMA) [MIM:137245]: A subtype of non-Hodgkin lymphoma, originating in mucosa-associated lymphoid tissue. MALT lymphomas occur most commonly in the gastro-intestinal tract but have been described in a variety of extranodal sites including the ocular adnexa, salivary gland, thyroid, lung, thymus, and breast. Histologically, they are characterized by an infiltrate of small to medium-sized lymphocytes with abundant cytoplasm and irregularly shaped nuclei. Scattered transformed blasts (large cells) also are present. Non-malignant reactive follicles are observed frequently. A pivotal feature is the presence of lymphoepithelial lesions, with invasion and partial destruction of mucosal glands and crypts by aggregates of tumor cells. {ECO:0000269 PubMed:9989495}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for BCL10 Gene
B cell/lymphoma 10,of mucosa associated lymphoid tissues (MALT lymphomas),affecting predominantly the gastric mucosa,low grade evolving to high grade form with translocation t(1;14)(p22;q32)
Additional Disease Information for BCL10
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for BCL10 Gene
- Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types. (PMID: 9989495) Willis TG … Dyer MJ (Cell 1999) 2 3 4 23
- Negative feedback loop in T cell activation through IkappaB kinase-induced phosphorylation and degradation of Bcl10. (PMID: 17213322) Lobry C … Weil R (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23
- Caveolin-1 triggers T-cell activation via CD26 in association with CARMA1. (PMID: 17287217) Ohnuma K … Morimoto C (The Journal of biological chemistry 2007) 3 4 23
- Association of BCL10 germ line polymorphisms on chromosome 1p with advanced stage testicular germ cell tumor patients. (PMID: 16229939) Inoue T … Habuchi T (Cancer letters 2006) 3 23 41
- Interchangeable binding of Bcl10 to TRAF2 and cIAPs regulates apoptosis signaling. (PMID: 11466612) Yui D … Tohyama M (Oncogene 2001) 3 4 23
ExternalLinks
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