ENSG00000142867


Homo sapiens

Features
Gene ID: ENSG00000142867
  
Biological name :BCL10
  
Synonyms : B cell CLL/lymphoma 10 / BCL10 / O95999
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p22.3
Gene start: 85266248
Gene end: 85277090
  
Corresponding Affymetrix probe sets: 1557257_at (Human Genome U133 Plus 2.0 Array)   1557258_a_at (Human Genome U133 Plus 2.0 Array)   205263_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000480561
Ensembl peptide - ENSP00000359612
NCBI entrez gene - 8915     See in Manteia.
OMIM - 603517
RefSeq - NM_001320715
RefSeq - NM_003921
RefSeq Peptide - NP_001307644
RefSeq Peptide - NP_003912
swissprot - O95999
swissprot - A0A087WWW9
Ensembl - ENSG00000142867
  
Related genetic diseases (OMIM): 616098 - ?Immunodeficiency 37, 616098
  137245 - Lymphoma, MALT, somatic, 137245
  605027 - {Lymphoma, follicular, somatic}, 605027
  603517 - {Male germ cell tumor, somatic}, 273300,
  156240 - {Mesothelioma, somatic}, 156240
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bcl10ENSDARG00000077130Danio rerio
 BCL10ENSGALG00000028935Gallus gallus
 Bcl10ENSMUSG00000028191Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001315  CARD domain
 IPR011029  Death-like domain superfamily
 IPR033238  B-cell lymphoma/leukemia 10/E10


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001783 B cell apoptotic process IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0002224 toll-like receptor signaling pathway IC
 biological_processGO:0002237 response to molecule of bacterial origin IEP
 biological_processGO:0002250 adaptive immune response TAS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002906 negative regulation of mature B cell apoptotic process IDA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006968 cellular defense response IEA
 biological_processGO:0007249 I-kappaB kinase/NF-kappaB signaling IEA
 biological_processGO:0008219 cell death IDA
 biological_processGO:0009620 response to fungus IEA
 biological_processGO:0016064 immunoglobulin mediated immune response IEA
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0031398 positive regulation of protein ubiquitination IDA
 biological_processGO:0032094 response to food IDA
 biological_processGO:0032765 positive regulation of mast cell cytokine production NAS
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0042109 lymphotoxin A biosynthetic process NAS
 biological_processGO:0042226 interleukin-6 biosynthetic process NAS
 biological_processGO:0042327 positive regulation of phosphorylation IDA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
 biological_processGO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
 biological_processGO:0045087 innate immune response IEP
 biological_processGO:0045416 positive regulation of interleukin-8 biosynthetic process IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0050852 T cell receptor signaling pathway IDA
 biological_processGO:0050856 regulation of T cell receptor signaling pathway IEA
 biological_processGO:0050870 positive regulation of T cell activation IEA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:0051259 protein complex oligomerization IPI
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0051291 protein heterooligomerization IEA
 biological_processGO:0070231 T cell apoptotic process IEA
 biological_processGO:0071260 cellular response to mechanical stimulus IEP
 biological_processGO:2001238 positive regulation of extrinsic apoptotic signaling pathway IEA
 cellular_componentGO:0001772 immunological synapse IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IDA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005881 cytoplasmic microtubule IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0032449 CBM complex NAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0042101 T cell receptor complex IDA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0046696 lipopolysaccharide receptor complex IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0003713 transcription coactivator activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0019209 kinase activator activity IDA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019900 kinase binding IPI
 molecular_functionGO:0019901 protein kinase binding IDA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043422 protein kinase B binding IPI
 molecular_functionGO:0043621 protein self-association IPI
 molecular_functionGO:0051059 NF-kappaB binding IDA


Pathways (from Reactome)
Pathway description
Activation of NF-kappaB in B cells
Downstream TCR signaling
FCERI mediated NF-kB activation
CLEC7A (Dectin-1) signaling
E3 ubiquitin ligases ubiquitinate target proteins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000614 Abnormality of the lacrimal duct 
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 HP:0000820 Abnormality of the thyroid gland 
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001824 Weight loss 
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 HP:0001903 Anemia 
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 HP:0001945 Fever 
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 HP:0002017 Nausea and vomiting 
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 HP:0002019 Constipation 
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 HP:0002027 Abdominal pain 
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 HP:0002113 Pulmonary infiltrates 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002383 Encephalitis 
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 HP:0002719 Recurrent infections 
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 HP:0002721 Immunodeficiency 
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 HP:0003593 Early onset 
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0012123 Posterior uveitis "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid." [HPO:probinson]
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 HP:0012191 B-cell lymphoma "A type of lymphoma that originates in B-cells." [HPO:probinson]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0045038 Gastric lymphoma "Llymphoma that originates in the stomach itself." []
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 HP:0100721 Mediastinal lymphadenopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100324 TAB1 / Q15750 / TGF-beta activated kinase 1 (MAP3K7) binding protein 1  / complex / reaction
 ENSG00000104312 RIPK2 / O43353 / receptor interacting serine/threonine kinase 2  / reaction
 ENSG00000065675 PRKCQ / Q04759 / protein kinase C theta  / complex / reaction
 ENSG00000157625 TAB3 / Q8N5C8 / TGF-beta activated kinase 1 and MAP3K7 binding protein 3  / complex / reaction
 ENSG00000140992 PDPK1 / O15530 / 3-phosphoinositide dependent protein kinase 1  / complex / reaction
 ENSG00000168894 Q9P0P0 / RNF181 / ring finger protein 181  / complex / reaction
 ENSG00000104365 IKBKB / O14920 / inhibitor of nuclear factor kappa B kinase subunit beta  / complex
 ENSG00000244687 Q13404 / UBE2V1 / ubiquitin conjugating enzyme E2 V1  / reaction
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / reaction
 ENSG00000172175 MALT1 / Q9UDY8 / MALT1 paracaspase  / complex / reaction
 ENSG00000198286 CARD11 / Q9BXL7 / caspase recruitment domain family member 11  / complex / reaction
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex / reaction
 ENSG00000187796 CARD9 / Q9H257 / caspase recruitment domain family member 9  / complex / reaction
 ENSG00000142867 BCL10 / O95999 / B cell CLL/lymphoma 10  / - / complex / reaction
 ENSG00000135341 MAP3K7 / O43318 / mitogen-activated protein kinase kinase kinase 7  / complex / reaction
 ENSG00000055208 TAB2 / Q9NYJ8 / TGF-beta activated kinase 1/MAP3K7 binding protein 2  / complex / reaction
 ENSG00000213341 CHUK / O15111 / conserved helix-loop-helix ubiquitous kinase  / complex
 ENSG00000269335 IKBKG / Q9Y6K9 / inhibitor of nuclear factor kappa B kinase subunit gamma  / complex






 

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