CARD11 (caspase recruitment domain family member 11)

2006-10-01  

Identity

HGNC
CARD11
LOCATION
7p22.2
LOCUSID
84433
ALIAS
BENTA,BIMP3,CARMA1,IMD11,IMD11A,PPBL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84433
MIM: 607210
HGNC: 16393
Ensembl: ENSG00000198286

Variants:

dbSNP: 84433
ClinVar: 84433
TCGA: ENSG00000198286
COSMIC: CARD11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198286ENST00000355508H7BY05
ENSG00000198286ENST00000356408E2QRC0
ENSG00000198286ENST00000396946Q9BXL7
ENSG00000198286ENST00000396946A0A024R854

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
T cell receptor signaling pathwayKEGGko04660
B cell receptor signaling pathwayKEGGko04662
T cell receptor signaling pathwayKEGGhsa04660
B cell receptor signaling pathwayKEGGhsa04662
NF-kappa B signaling pathwayKEGGhsa04064
NF-kappa B signaling pathwayKEGGko04064
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
TCR signalingREACTOMER-HSA-202403
Downstream TCR signalingREACTOMER-HSA-202424
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)REACTOMER-HSA-1168372
Activation of NF-kappaB in B cellsREACTOMER-HSA-1169091
Innate Immune SystemREACTOMER-HSA-168249
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated NF-kB activationREACTOMER-HSA-2871837
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
CLEC7A (Dectin-1) signalingREACTOMER-HSA-5607764

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
183234162008Oncogenic CARD11 mutations in human diffuse large B cell lymphoma.304
163568562005Phosphorylation of CARMA1 plays a critical role in T Cell receptor-mediated NF-kappaB activation.129
121543562002A requirement for CARMA1 in TCR-induced NF-kappa B activation.126
121543602002CARMA1 is a critical lipid raft-associated regulator of TCR-induced NF-kappa B activation.122
211726652010TDRD3 is an effector molecule for arginine-methylated histone marks.88
123567342002CARD11 mediates factor-specific activation of NF-kappaB by the T cell receptor complex.87
240749552013Structural architecture of the CARMA1/Bcl10/MALT1 signalosome: nucleation-induced filamentous assembly.59
233742702013Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.50
231297492012Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.49
168097822006Ca2+/calmodulin-dependent protein kinase II is a modulator of CARMA1-mediated NF-kappaB activation.45

Citation

Dessen P

CARD11 (caspase recruitment domain family member 11)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43188/card11-(caspase-recruitment-domain-family-member-11)