ENSG00000198286


Homo sapiens

Features
Gene ID: ENSG00000198286
  
Biological name :CARD11
  
Synonyms : CARD11 / caspase recruitment domain family member 11 / Q9BXL7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: p22.2
Gene start: 2906141
Gene end: 3043945
  
Corresponding Affymetrix probe sets: 1562368_at (Human Genome U133 Plus 2.0 Array)   223514_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000348779
Ensembl peptide - ENSP00000380150
Ensembl peptide - ENSP00000347695
NCBI entrez gene - 84433     See in Manteia.
OMIM - 607210
RefSeq - XM_011515587
RefSeq - NM_001324281
RefSeq - NM_032415
RefSeq - XM_011515586
RefSeq Peptide - NP_001311210
RefSeq Peptide - NP_115791
swissprot - A0A024R854
swissprot - E2QRC0
swissprot - H7BY05
swissprot - Q9BXL7
Ensembl - ENSG00000198286
  
Related genetic diseases (OMIM): 615206 - Immunodeficiency 11A, 615206
  616452 - B-cell expansion with NFKB and T-cell anergy, 616452
  617638 - Immunodeficiency 11B with atopic dermatitis, 617638
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
 card11ENSDARG00000052741Danio rerio
 CARD11ENSGALG00000004398Gallus gallus
 Card11ENSMUSG00000036526Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CARD10 / Q9BWT7 / caspase recruitment domain family member 10ENSG0000010006534
CARD14 / Q9BXL6 / caspase recruitment domain family member 14ENSG0000014152727
CARD9 / Q9H257 / caspase recruitment domain family member 9ENSG0000018779619


Protein motifs (from Interpro)
Interpro ID Name
 IPR001315  CARD domain
 IPR011029  Death-like domain superfamily
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR033538  Caspase recruitment domain-containing protein 11
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001819 positive regulation of cytokine production IMP
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0002377 immunoglobulin production IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007249 I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:0030183 B cell differentiation IEA
 biological_processGO:0030890 positive regulation of B cell proliferation IEA
 biological_processGO:0031295 T cell costimulation IDA
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0038202 TORC1 signaling IMP
 biological_processGO:0042100 B cell proliferation IEA
 biological_processGO:0042102 positive regulation of T cell proliferation IEA
 biological_processGO:0042110 T cell activation IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEA
 biological_processGO:0045061 thymic T cell selection IEA
 biological_processGO:0045086 positive regulation of interleukin-2 biosynthetic process IEA
 biological_processGO:0045577 regulation of B cell differentiation IEA
 biological_processGO:0045580 regulation of T cell differentiation IEA
 biological_processGO:0046037 GMP metabolic process IEA
 biological_processGO:0046649 lymphocyte activation IEA
 biological_processGO:0046710 GDP metabolic process IEA
 biological_processGO:0048872 homeostasis of number of cells IEA
 biological_processGO:0050776 regulation of immune response IEA
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0050870 positive regulation of T cell activation IEA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:0070970 interleukin-2 secretion IEA
 cellular_componentGO:0001772 immunological synapse IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0032449 CBM complex IDA
 cellular_componentGO:0042101 T cell receptor complex IDA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004385 guanylate kinase activity NAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0050700 CARD domain binding IPI


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 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:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0002090 Pneumonia 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002719 Recurrent infections 
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 HP:0002721 Immunodeficiency 
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 HP:0002850 Decreased IgM 
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 HP:0003593 Early onset 
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 HP:0004313 Reduced immunoglobulin levels 
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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  / reaction / complex
 ENSG00000140992 PDPK1 / O15530 / 3-phosphoinositide dependent protein kinase 1  / 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
 ENSG00000055208 TAB2 / Q9NYJ8 / TGF-beta activated kinase 1/MAP3K7 binding protein 2  / complex / reaction
 ENSG00000198286 CARD11 / Q9BXL7 / caspase recruitment domain family member 11  / - / complex / reaction
 ENSG00000142867 BCL10 / O95999 / B cell CLL/lymphoma 10  / complex / reaction
 ENSG00000135341 MAP3K7 / O43318 / mitogen-activated protein kinase kinase kinase 7  / complex / reaction
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / 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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