GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

CARD11 (caspase recruitment domain family member 11)

Gene

Caspase recruitment domain family member 11

CARD11

BENTA, BIMP3, CARMA1, IMD11, IMD11A, PPBL

7

7p22.2

The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This p

Show/Hide all(10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144358235	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145474800	G>A,T	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs200456391	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs201780608	G>A	Not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514686	G>A	Pathogenic	Coding sequence variant, stop gained
rs750407488	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs771790639	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794729673	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064795307	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1554271741	G>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020564	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT041621	hsa-miR-146b-5p	CLASH	23622248
MIRT038232	hsa-miR-330-5p	CLASH	23622248
MIRT020564	hsa-miR-155-5p	Microarray	23807165
MIRT441006	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441006	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT732127	hsa-miR-539-5p	Luciferase reporter assay, qRT-PCR, Western blot	26206083
MIRT732127	hsa-miR-539-5p	Luciferase reporter assay, qRT-PCR, Western blot	26206083
MIRT735678	hsa-miR-181a-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	31662757
MIRT2193477	hsa-miR-4265	CLIP-seq
MIRT2193478	hsa-miR-4296	CLIP-seq
MIRT2193479	hsa-miR-4322	CLIP-seq
MIRT2193480	hsa-miR-4417	CLIP-seq
MIRT2193481	hsa-miR-4640-5p	CLIP-seq
MIRT2193482	hsa-miR-4660	CLIP-seq
MIRT2193483	hsa-miR-4661-3p	CLIP-seq
MIRT2193484	hsa-miR-4726-5p	CLIP-seq
MIRT2193485	hsa-miR-486-3p	CLIP-seq

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001772	Component	Immunological synapse	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0004385	Function	Guanylate kinase activity	NAS	11278692
GO:0005515	Function	Protein binding	IPI	12154360, 16809782, 17287217, 17948050, 19118383, 19444310, 19706536, 19815501, 21157432, 22528498
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	12154360
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	12154360
GO:0005886	Component	Plasma membrane	TAS
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	IMP	28628108
GO:0030183	Process	B cell differentiation	IEA
GO:0030890	Process	Positive regulation of B cell proliferation	IEA
GO:0031295	Process	T cell costimulation	IDA	17287217
GO:0032449	Component	CBM complex	IDA	28628108
GO:0032743	Process	Positive regulation of interleukin-2 production	IMP	12154360
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0038202	Process	TORC1 signaling	IMP	28628108
GO:0042100	Process	B cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	12154360
GO:0045061	Process	Thymic T cell selection	IEA
GO:0045121	Component	Membrane raft	IDA	12154360, 17287217
GO:0045577	Process	Regulation of B cell differentiation	IEA
GO:0045580	Process	Regulation of T cell differentiation	IEA
GO:0046037	Process	GMP metabolic process	IEA
GO:0046710	Process	GDP metabolic process	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050700	Function	CARD domain binding	IBA	21873635
GO:0050700	Function	CARD domain binding	IPI	11278692
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IMP	12154360
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	12154360
GO:0070062	Component	Extracellular exosome	HDA	18570454

MIM	HGNC	e!Ensembl
607210	16393	ENSG00000198286

Protein

UniProt ID

Protein name

Caspase recruitment domain-containing protein 11 (CARD-containing MAGUK protein 1) (Carma 1)

Protein function

Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement (PubMed:11278692, PubMed:11356195, PubMed:12356734). Transduce

PDB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00619	CARD	23 → 109	Caspase recruitment domain	Domain

Sequence

MPGGGPEMDDYMETLKDEEDALWENVECNRHMLSRYINPAKLTPYLRQCKVIDEQDEDEV
LNAPMLPSKINRAGRLLDILHTKGQRGYVVFLESLEFYYPELYKLVTGKEPTRRFSTIVV
EEGHEGLTHFLMNEVIKLQQQMKAKDLQRCELLARLRQLEDEKKQMTLTRVELLTFQERY
YKMKEERDSYNDELVKVKDDNYNLAMRYAQLSEEKNMAVMRSRDLQLEIDQLKHRLNKME
EECKLERNQSLKLKNDIENRPKKEQVLELERENEMLKTKNQELQSIIQAGKRSLPDSDKA
ILDILEHDRKEALEDRQELVNRIYNLQEEARQAEELRDKYLEEKEDLELKCSTLGKDCEM
YKHRMNTVMLQLEEVERERDQAFHSRDEAQTQYSQCLIEKDKYRKQIRELEEKNDEMRIE
MVRREACIVNLESKLRRLSKDSNNLDQSLPRNLPVTIISQDFGDASPRTNGQEADDSSTS
EESPEDSKYFLPYHPPQRRMNLKGIQLQRAKSPISLKRTSDFQAKGHEEEGTDASPSSCG
SLPITNSFTKMQPPRSRSSIMSITAEPPGNDSIVRRYKEDAPHRSTVEEDNDSGGFDALD
LDDDSHERYSFGPSSIHSSSSSHQSEGLDAYDLEQVNLMFRKFSLERPFRPSVTSVGHVR
GPGPSVQHTTLNGDSLTSQLTLLGGNARGSFVHSVKPGSLAEKAGLREGHQLLLLEGCIR
GERQSVPLDTCTKEEAHWTIQRCSGPVTLHYKVNHEGYRKLVKDMEDGLITSGDSFYIRL
NLNISSQLDACTMSLKCDDVVHVRDTMYQDRHEWLCARVDPFTDHDLDMGTIPSYSRAQQ
LLLVKLQRLMHRGSREEVDGTHHTLRALRNTLQPEEALSTSDPRVSPRLSRASFLFGQLL
QFVSRSENKYKRMNSNERVRIISGSPLGSLARSSLDATKLLTEKQEELDPESELGKNLSL
IPYSLVRAFYCERRRPVLFTPTVLAKTLVQRLLNSGGAMEFTICKSDIVTRDEFLRRQKT
ETIIYSREKNPNAFECIAPANIEAVAAKNKHCLLEAGIGCTRDLIKSNIYPIVLFIRVCE
KNIKRFRKLLPRPETEEEFLRVCRLKEKELEALPCLYATVEPDMWGSVEELLRVVKDKIG
EEQRKTIWVDEDQL

Sequence length

1154

Interactions

View interactions

	KEGG		Reactome
	NF-kappa B signaling pathway T cell receptor signaling pathway B cell receptor signaling pathway		Activation of NF-kappaB in B cells Downstream TCR signaling FCERI mediated NF-kB activation CLEC7A (Dectin-1) signaling

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
B-cell expansion with nfkb and t-cell anergy	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, BENTA disease	rs387907351, rs387907352, rs571517554, rs794729673	25930198, 23129749, 28628108, 25352053, 28747751
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	28628108, 23042114
Immunodeficiency 11b with atopic dermatitis	IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS	rs145474800	28628108, 25352053
Diffuse lymphoma	Diffuse Large B-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291	26192916, 25049379
Immunodeficiency	IMMUNODEFICIENCY 11	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	23561803, 25352053, 23374270
Intracranial aneurysm	Intracranial Aneurysm	rs1594095223	29531279
Lymphoma	Lymphoma, T-Cell, Cutaneous	rs11540652, rs1592119138, rs1592123162, rs1599367044	26192916
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	22138691
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	22138691
Severe combined immunodeficiency disease	Combined immunodeficiency, Severe combined immunodeficiency due to CARD11 deficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	25352053
Sezary syndrome	Sezary Syndrome	rs587776632	26551667, 26551670

Show/Hide Unknown Diseases (9)

Unknown
Disease name	Disease term	dbSNP ID	References
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma	rs137853247	22138691
Eczema	Eczema, Infantile		23042114, 28628108
Eosinophilia	Eosinophilia
Granulomatous slack skin	Granulomatous Slack Skin		26192916
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Lymphocytosis	Lymphocytosis
Persistent polyclonal b-cell lymphocytosis	Persistent Polyclonal B-Cell Lymphocytosis
Respiratory tract diseases	Respiratory Tract Diseases		30595370
T-cell lymphoma/leukemia	Adult T-Cell Lymphoma/Leukemia		26437031

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412