242:
1132:−/− bone marrow-derived dendritic cells (BMDCs) were assessed for cytokine production. BMDCs expressing the predisposing variant CARD9 S12N showed increased TNFα and IL-6 production compared to BMDCs expressing wild-type CARD9. In contrast, CARD9 Δ11 and CARD9 S12NΔ11, as well as the C-terminal truncated variant CARD9 V6, showed significant impairment in TNFα and IL-6 production. CARD9 Δ11 was found to have a dominant negative effect on CARD9 function when co-expressed with wild-type CARD9 in human and mouse dendritic cells.
219:
116:
141:
248:
147:
1426:
Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, Migaud M, Taibi L, Ammar-Khodja A, Boudghene
Stambouli O, Guellil B, Jacobs F, Goffard JC, Schepers K, del Marmol V, Boussofara L, Denguezli M, Larif M, Bachelez H, Michel L, Lefranc G, Hay R, Jouvion G, Chretien F, Fraitag S, Bougnoux
1743:
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P,
1123:(Crohn's Disease and Ulcerative Colitis). A genetic variant, c.IVS11+1G>C was found to be protective against crohn's disease, ulcerative colitis, and ankylosing spondilitis by Manuel Rivas, Mark Daly and colleagues. CARD9 S12NΔ11, is a rare splice variant in which exon 11 of
1046:. It mediates signals from pattern recognition receptors to activate pro-inflammatory and anti-inflammatory cytokines, regulating inflammation. Homozygous mutations in CARD9 are associated with defective innate immunity against yeasts, like Candida and dermatophytes.
1066:
activation. It is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-κB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined.
1376:
Glocker EO, Hennigs A, Nabavi M, Schäffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar AA, Plebani A, Hannesschläger N, Gross O, Ruland J, Grimbacher B (Oct 2009).
1107:
was found in 2009 to be associated with homozygous mutations in CARD9. Deep dermatophytosis and Card9 deficiency reported in an
Iranian family led to its discovery in 17 people from Tunisian, Algerian, and Moroccan families with
1744:
Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network".
1127:
is deleted. This allele, identified by deep sequencing of GWAS loci, results in a protein with a C-terminal truncation. In a functional follow-up study, using re-expressed human CARD9 isoforms in murine
1075:
In 2006, it became clear that Card9 plays important roles within the innate immune response against yeasts. Card9 mediates signals from so called pattern recognition receptors (
1325:
Gross O, Gewies A, Finger K, Schäfer M, Sparwasser T, Peschel C, Förster I, Ruland J (Aug 2006). "Card9 controls a non-TLR signalling pathway for innate anti-fungal immunity".
1696:
Hsu YM, Zhang Y, You Y, Wang D, Li H, Duramad O, Qin XF, Dong C, Lin X (2007). "The adaptor protein CARD9 is required for innate immune responses to intracellular pathogens".
255:
154:
1103:) and subsequently an appropriate innate and adaptive immune response to clear an infection. An autosomal recessive form of susceptibility to chronic mucocutaneous
757:
738:
77:
1791:"Card10 is a novel caspase recruitment domain/membrane-associated guanylate kinase family member that interacts with BCL10 and activates NF-kappa B"
1478:"Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility"
1284:
Bertin J, Guo Y, Wang L, Srinivasula SM, Jacobson MD, Poyet JL, Merriam S, Du MQ, Dyer MJ, Robison KE, DiStefano PS, Alnemri ES (December 2000).
1208:
1190:
1226:
Bertin J, Guo Y, Wang L, Srinivasula SM, Jacobson MD, Poyet JL, Merriam S, Du MQ, Dyer MJ, Robison KE, DiStefano PS, Alnemri ES (Jan 2001).
1834:
1054:
CARD9 is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (
969:
241:
1626:
1032:
976:
218:
1270:
1177:
1156:
1173:
1632:
140:
115:
1152:
1789:
Wang L, Guo Y, Huang WJ, Ke X, Poyet JL, Manji GA, Merriam S, Glucksmann MA, DiStefano PS, Alnemri ES, Bertin J (2001).
1286:"CARD9 is a novel caspase recruitment domain-containing protein that interacts with BCL10/CLAP and activates NF-kappa B"
1228:"CARD9 is a novel caspase recruitment domain-containing protein that interacts with BCL10/CLAP and activates NF-kappa B"
57:
254:
153:
1120:
247:
146:
1527:"Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease"
802:
65:
783:
1653:
Yang H, Minamishima YA, Yan Q, Schlisio S, Ebert BL, Zhang X, Zhang L, Kim WY, Olumi AF, Kaelin WG (2007).
1116:
1655:"pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2"
1753:
1334:
1109:
129:
44:
1638:
1576:"Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation"
952:
901:
1574:
Cao Z, Conway KL, Heath RJ, Rush JS, Leshchiner ES, Ramirez-Ortiz ZG, et al. (October 2015).
1777:
1731:
1358:
89:
931:
927:
880:
876:
872:
1839:
1812:
1769:
1723:
1684:
1605:
1556:
1507:
1458:
1408:
1350:
1307:
1249:
37:
1802:
1761:
1713:
1705:
1674:
1666:
1595:
1587:
1546:
1538:
1497:
1489:
1448:
1440:
1398:
1390:
1342:
1297:
1239:
334:
265:
209:
164:
1525:
Rivas MA, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang CK, et al. (October 2011).
85:
309:
673:
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
1757:
1427:
ME, Boudia M, Abel L, Lortholary O, Casanova JL, Picard C, Grimbacher B, Puel A (2013).
1338:
1679:
1654:
1600:
1575:
1551:
1526:
1502:
1477:
1476:
Evans DM, Spencer CC, Pointon JJ, Su Z, Harvey D, Kochan G, et al. (August 2011).
1453:
1428:
1403:
1378:
1100:
1088:
1036:
672:
667:
662:
657:
652:
647:
642:
637:
632:
627:
622:
617:
612:
607:
602:
597:
592:
587:
571:
566:
561:
556:
540:
535:
530:
525:
1828:
1092:
512:
1735:
1058:). This protein was identified by its selective association with the CARD domain of
69:
1781:
1362:
327:
106:
1379:"A homozygous CARD9 mutation in a family with susceptibility to fungal infections"
1670:
1591:
93:
1213:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1195:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1104:
1055:
410:
226:
123:
73:
702:
470:
348:
293:
280:
192:
179:
81:
1816:
1807:
1790:
1773:
1727:
1688:
1609:
1560:
1511:
1462:
1412:
1354:
1311:
1302:
1285:
1253:
1244:
1227:
1444:
1394:
1016:
1011:
1080:
1063:
1000:
847:
828:
1765:
1346:
1115:
CARD9 mutations have been associated with inflammatory diseases such as
1718:
814:
769:
1076:
984:
724:
1709:
1542:
1493:
1059:
687:
683:
1271:"Entrez Gene: CARD9 caspase recruitment domain family, member 9"
1096:
1043:
61:
1084:
648:
positive regulation of I-kappaB kinase/NF-kappaB signaling
317:
643:
positive regulation of tumor necrosis factor production
1429:"Deep dermatophytosis and inherited CARD9 deficiency"
482:
48:, CANDF2, hcaspase recruitment domain family member 9
658:
positive regulation of stress-activated MAPK cascade
608:
stimulatory C-type lectin receptor signaling pathway
945:
920:
894:
865:
1169:
1167:
1165:
1148:
1146:
1144:
1083:and by this activates pro-inflammatory cytokines (
264:
163:
1029:Caspase recruitment domain-containing protein 9
633:positive regulation of interleukin-6 production
16:Protein-coding gene in the species Homo sapiens
1174:GRCm38: Ensembl release 89: ENSMUSG00000026928
638:positive regulation of innate immune response
8:
1079:) to downstream signalling pathways such as
1153:GRCh38: Ensembl release 89: ENSG00000187796
663:defense response to Gram-positive bacterium
698:
508:
305:
204:
101:
1806:
1717:
1678:
1599:
1550:
1501:
1452:
1402:
1301:
1243:
1265:
1263:
1140:
18:
1099:) and an anti-inflammatory cytokine (
269:
230:
225:
168:
127:
122:
7:
1039:, which in humans is encoded by the
653:I-kappaB kinase/NF-kappaB signaling
942:
917:
891:
862:
838:
819:
793:
774:
748:
729:
613:positive regulation of JNK cascade
487:
405:
343:
322:
14:
526:protein homodimerization activity
253:
246:
240:
217:
152:
145:
139:
114:
588:regulation of apoptotic process
531:protein domain specific binding
471:More reference expression data
1:
603:response to muramyl dipeptide
238:
137:
1671:10.1016/j.molcel.2007.09.010
1592:10.1016/j.immuni.2015.10.005
1835:Genes on human chromosome 9
1062:, a positive regulator and
593:response to exogenous dsRNA
387:stromal cell of endometrium
1856:
1637:gene details page in the
1121:inflammatory bowel disease
572:protein-containing complex
1209:"Mouse PubMed Reference:"
1191:"Human PubMed Reference:"
1015:
1010:
1006:
999:
983:
970:Chr 9: 136.36 – 136.37 Mb
964:
949:
924:
913:
898:
869:
858:
845:
841:
826:
822:
813:
800:
796:
781:
777:
768:
755:
751:
736:
732:
723:
708:
701:
697:
681:
628:response to peptidoglycan
623:defense response to virus
511:
507:
495:
490:
481:
468:
417:
408:
355:
346:
316:
308:
304:
287:
274:
237:
216:
207:
203:
186:
173:
136:
113:
104:
100:
55:
52:
42:
35:
30:
26:
21:
977:Chr 2: 26.24 – 26.25 Mb
395:upper lobe of left lung
1808:10.1074/jbc.M102488200
1303:10.1074/jbc.C000726200
1245:10.1074/jbc.C000726200
1117:ankylosing spondylitis
1037:CARD-CC protein family
668:innate immune response
1445:10.1056/NEJMoa1208487
1395:10.1056/NEJMoa0810719
1071:Clinical significance
598:immune system process
1631:genome location and
1110:deep dermatophytosis
232:Chromosome 2 (mouse)
130:Chromosome 9 (human)
1766:10.1038/nature04209
1758:2005Natur.437.1173R
1639:UCSC Genome Browser
1347:10.1038/nature04926
1339:2006Natur.442..651G
541:CARD domain binding
803:ENSMUSG00000026928
618:response to fungus
581:Biological process
550:Cellular component
519:Molecular function
1026:
1025:
1022:
1021:
995:
994:
960:
959:
939:
938:
909:
908:
888:
887:
854:
853:
835:
834:
809:
808:
790:
789:
764:
763:
745:
744:
693:
692:
503:
502:
499:
498:
477:
476:
464:
463:
457:cerebellar cortex
402:
401:
391:bone marrow cells
300:
299:
199:
198:
94:CARD9 - orthologs
1847:
1820:
1810:
1785:
1752:(7062): 1173–8.
1739:
1721:
1692:
1682:
1614:
1613:
1603:
1571:
1565:
1564:
1554:
1522:
1516:
1515:
1505:
1473:
1467:
1466:
1456:
1423:
1417:
1416:
1406:
1373:
1367:
1366:
1322:
1316:
1315:
1305:
1281:
1275:
1274:
1267:
1258:
1257:
1247:
1223:
1217:
1216:
1205:
1199:
1198:
1187:
1181:
1171:
1160:
1150:
1008:
1007:
979:
972:
955:
943:
934:
918:
914:RefSeq (protein)
904:
892:
883:
863:
839:
820:
794:
775:
749:
730:
699:
509:
488:
473:
413:
411:Top expressed in
406:
351:
349:Top expressed in
344:
323:
306:
296:
283:
272:
257:
250:
244:
233:
221:
205:
195:
182:
171:
156:
149:
143:
132:
118:
102:
96:
47:
40:
19:
1855:
1854:
1850:
1849:
1848:
1846:
1845:
1844:
1825:
1824:
1823:
1801:(24): 21405–9.
1788:
1742:
1695:
1652:
1648:
1646:Further reading
1622:
1617:
1573:
1572:
1568:
1537:(11): 1066–73.
1531:Nature Genetics
1524:
1523:
1519:
1475:
1474:
1470:
1439:(18): 1704–14.
1425:
1424:
1420:
1389:(18): 1727–35.
1383:N. Engl. J. Med
1375:
1374:
1370:
1333:(7103): 651–6.
1324:
1323:
1319:
1296:(52): 41082–6.
1283:
1282:
1278:
1269:
1268:
1261:
1238:(52): 41082–6.
1225:
1224:
1220:
1207:
1206:
1202:
1189:
1188:
1184:
1172:
1163:
1151:
1142:
1138:
1073:
1052:
1033:adaptor protein
1017:View/Edit Mouse
1012:View/Edit Human
975:
968:
965:Location (UCSC)
951:
930:
926:
900:
879:
875:
871:
784:ENSG00000187796
677:
576:
567:plasma membrane
545:
536:protein binding
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208:Gene location (
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105:Gene location (
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17:
12:
11:
5:
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1821:
1786:
1740:
1710:10.1038/ni1426
1704:(2): 198–205.
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1620:External links
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1543:10.1038/ng.952
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433:olfactory bulb
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310:RNA expression
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1795:J. Biol. Chem
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1623:
1619:
1611:
1607:
1602:
1597:
1593:
1589:
1586:(4): 715–26.
1585:
1581:
1577:
1570:
1567:
1562:
1558:
1553:
1548:
1544:
1540:
1536:
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1232:J. Biol. Chem
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1038:
1034:
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1005:
1002:
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986:
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954:
948:
944:
941:
935:
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929:
923:
919:
916:
912:
905:
903:
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893:
890:
884:
882:
878:
874:
868:
864:
861:
859:RefSeq (mRNA)
857:
850:
849:
844:
840:
837:
831:
830:
825:
821:
818:
816:
812:
805:
804:
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513:Gene ontology
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1698:Nat. Immunol
1697:
1665:(1): 15–27.
1662:
1658:
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1579:
1569:
1534:
1530:
1520:
1488:(8): 761–7.
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1471:
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1433:N Engl J Med
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1203:
1194:
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1129:
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1074:
1053:
1040:
1028:
1027:
953:NP_001032836
950:
925:
902:NM_001037747
899:
870:
846:
827:
801:
782:
756:
737:
717:
712:
333:
326:
191:136,373,681
178:136,363,956
53:External IDs
1719:10161/11515
1105:candidiasis
425:bone marrow
421:granulocyte
383:bone marrow
363:granulocyte
292:26,250,930
279:26,242,188
271:2|2 A3
31:Identifiers
1829:Categories
1482:Nat. Genet
1180:, May 2017
1159:, May 2017
1136:References
445:cerebellum
379:C1 segment
337:(ortholog)
74:HomoloGene
1659:Mol. Cell
932:NP_434701
928:NP_434700
881:NM_022352
877:NM_052813
873:NM_052814
703:Orthologs
557:cytoplasm
82:GeneCards
1840:Proteins
1817:11259443
1774:16189514
1736:20483095
1728:17187069
1689:17936701
1610:26488816
1580:Immunity
1561:21983784
1512:21743469
1463:24131138
1413:19864672
1355:16862125
1312:11053425
1254:11053425
1176:–
1155:–
1077:Dectin-1
1050:Function
1001:Wikidata
682:Sources:
367:testicle
359:monocyte
1782:4427026
1754:Bibcode
1680:2128776
1601:4672733
1552:3378381
1503:3640413
1454:4084693
1404:2793117
1363:4405404
1335:Bibcode
1178:Ensembl
1157:Ensembl
1035:of the
815:UniProt
770:Ensembl
709:Species
688:QuickGO
562:cytosol
449:jejunum
312:pattern
70:2685628
38:Aliases
1815:
1780:
1772:
1746:Nature
1734:
1726:
1687:
1677:
1625:Human
1608:
1598:
1559:
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1500:
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1327:Nature
1310:
1252:
1031:is an
987:search
985:PubMed
848:A2AIV8
829:Q9H257
758:332579
725:Entrez
483:BioGPS
453:spleen
437:thymus
375:spleen
170:9q34.3
62:607212
1778:S2CID
1732:S2CID
1634:CARD9
1628:CARD9
1359:S2CID
1130:Card9
1125:CARD9
1101:IL-10
1089:IL-23
1081:NF-κB
1064:NF-κB
1060:BCL10
1041:CARD9
739:64170
718:Mouse
713:Human
684:Amigo
429:ileum
371:blood
335:Mouse
328:Human
275:Start
210:Mouse
174:Start
107:Human
86:CARD9
78:14150
45:CARD9
22:CARD9
1813:PMID
1770:PMID
1724:PMID
1685:PMID
1606:PMID
1557:PMID
1508:PMID
1459:PMID
1409:PMID
1351:PMID
1308:PMID
1250:PMID
1119:and
1097:IL-2
1093:IL-6
1056:CARD
1044:gene
441:lung
318:Bgee
266:Band
227:Chr.
165:Band
124:Chr.
58:OMIM
1803:doi
1799:276
1762:doi
1750:437
1714:hdl
1706:doi
1675:PMC
1667:doi
1596:PMC
1588:doi
1547:PMC
1539:doi
1498:PMC
1490:doi
1449:PMC
1441:doi
1437:369
1399:PMC
1391:doi
1387:361
1343:doi
1331:442
1298:doi
1294:275
1240:doi
1236:275
1085:TNF
491:n/a
288:End
187:End
90:OMA
66:MGI
1831::
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1262:^
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1164:^
1143:^
1112:.
1095:,
1091:,
1087:,
686:/
294:bp
281:bp
193:bp
180:bp
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