Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64170
Gene name	Caspase recruitment domain family member 9
Gene symbol	CARD9
Synonyms (NCBI Gene)	CANDF2IMD103hCARD9
Chromosome	9
Chromosome location	9q34.3
Summary	The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppress

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918338	G>A	Pathogenic	Coding sequence variant, stop gained
rs149712114	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs398122362	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs398122363	G>A	Pathogenic	Stop gained, coding sequence variant
rs398122364	G>A	Pathogenic	Missense variant, coding sequence variant
rs746470735	TCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs774391206	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs921151054	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1379376784	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564367364	->C	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0001819	Process	Positive regulation of cytokine production	IMP	24231284, 25057046
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002446	Process	Neutrophil mediated immunity	IEA
GO:0002446	Process	Neutrophil mediated immunity	IMP	26679537
GO:0005515	Function	Protein binding	IPI	22267217, 25416956, 26871637, 29892012, 31515488, 32296183, 32814053, 36217029
GO:0005737	Component	Cytoplasm	IDA	26488816
GO:0005737	Component	Cytoplasm	IDA	11053425
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007254	Process	JNK cascade	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009620	Process	Response to fungus	IEA
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0016064	Process	Immunoglobulin mediated immune response	IEA
GO:0016064	Process	Immunoglobulin mediated immune response	IMP	33548172
GO:0032449	Component	CBM complex	IBA
GO:0032449	Component	CBM complex	IEA
GO:0032494	Process	Response to peptidoglycan	IEA
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0032663	Process	Regulation of interleukin-2 production	IEA
GO:0032675	Process	Regulation of interleukin-6 production	IEA
GO:0032680	Process	Regulation of tumor necrosis factor production	IEA
GO:0032722	Process	Positive regulation of chemokine production	IEA
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	IMP	26961233
GO:0032740	Process	Positive regulation of interleukin-17 production	IMP	26961233
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IMP	25702837, 26679537, 26961233, 29080677, 33558980
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	IDA	17187069
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	IEA
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	ISS
GO:0032991	Component	Protein-containing complex	IDA	22267217
GO:0035591	Function	Signaling adaptor activity	IDA	11053425
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042803	Function	Protein homodimerization activity	IPI	11053425
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	18223652, 18287044
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	11053425
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEP	11053425
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045089	Process	Positive regulation of innate immune response	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IDA	17187069
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048874	Process	Host-mediated modulation of intestinal microbiota composition	IEA
GO:0048874	Process	Host-mediated modulation of intestinal microbiota composition	IMP	33548172
GO:0050700	Function	CARD domain binding	IEA
GO:0050700	Function	CARD domain binding	IPI	11053425, 26488816, 31296852
GO:0050776	Process	Regulation of immune response	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	26488816, 31296852
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	25057046, 25702837, 29080677, 33558980
GO:0051260	Process	Protein homooligomerization	IDA	31296852
GO:0051403	Process	Stress-activated MAPK cascade	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0060907	Process	Positive regulation of macrophage cytokine production	IEA
GO:0061760	Process	Antifungal innate immune response	IDA	26488816
GO:0061760	Process	Antifungal innate immune response	IEA
GO:0061760	Process	Antifungal innate immune response	IMP	24231284, 25057046, 25702837, 26679537, 26961233, 29080677, 33548172, 33558980
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0097190	Process	Apoptotic signaling pathway	IMP	22267217
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	IEA
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	ISS
GO:1904044	Process	Response to aldosterone	IEA
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	IEA
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	IMP	24231284, 29080677

MIM	HGNC	e!Ensembl
607212	16391	ENSG00000187796

Q9H257

Protein name

Caspase recruitment domain-containing protein 9 (hCARD9)

Protein function

Adapter protein that plays a key role in innate immune response against fungi by forming signaling complexes downstream of C-type lectin receptors (PubMed:26961233, PubMed:33558980). CARD9-mediated signals are essential for antifungal immunity a

PDB

6E25 , 6E26 , 6E27 , 6E28 , 6N2M , 6N2P , 9AVM , 9AVN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00619	CARD	11 → 97	Caspase recruitment domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression is restricted to several populations of phagocytes, such as macrophages, monocytes, and dendritic cells (PubMed:33548172). Highly expressed in spleen (PubMed:11053425). Also detected in liver, placenta, lung, peripheral bloo

Sequence

MSDYENDDECWSVLEGFRVTLTSVIDPSRITPYLRQCKVLNPDDEEQVLSDPNLVIRKRK
VGVLLDILQRTGHKGYVAFLESLELYYPQLYKKVTGKEPARVFSMIIDASGESGLTQLLM
TEVMKLQKKVQDLTALLSSKDDFIKELRVKDSLLRKHQERVQRLKEECEAGSRELKRCKE
ENYDLAMRLAHQSEEKGAALMRNRDLQLEIDQLKHSLMKAEDDCKVERKHTLKLRHAMEQ
RPSQELLWELQQEKALLQARVQELEASVQEGKLDRSSPYIQVLEEDWRQALRDHQEQANT
IFSLRKDLRQGEARRLRCMEEKEMFELQCLALRKDSKMYKDRIEAILLQMEEVAIERDQA
IATREELHAQHARGLQEKDALRKQVRELGEKADELQLQVFQCEAQLLAVEGRLRRQQLET
LVLSSDLEDGSPRRSQELSLPQDLEDTQLSDKGCLAGGGSPKQPFAALHQEQVLRNPHDA
GLSSGEPPEKERRRLKESFENYRRKRALRKMQKGWRQGEEDRENTTGSDNTDTEGS

Sequence length

536

Interactions

View interactions

	KEGG		Reactome
	NOD-like receptor signaling pathway C-type lectin receptor signaling pathway Tuberculosis Herpes simplex virus 1 infection		CLEC7A (Dectin-1) signaling

551

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Inherited Immunodeficiency Diseases	Pathogenic	rs1379376784	RCV001027549
Predisposition to invasive fungal disease due to CARD9 deficiency	Likely pathogenic; Pathogenic	rs1272762412, rs2131443924, rs2131441761, rs753050033, rs121918338, rs766530086, rs768845190, rs766061901, rs1260364391, rs2538658638, rs2538669014, rs921094576, rs2538665837, rs1310355874, rs2538654287 View all (4 more)	RCV002015707 RCV001962015 RCV002037820 RCV002271346 RCV000003575 RCV002572152 RCV002816643 RCV002834586 RCV002890759 RCV002958124 RCV003037503 RCV003022379 RCV003501765 RCV003607635 RCV003608457 RCV000697296 RCV000687133 RCV001037926 RCV000074440

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CARD9-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs769142671, rs777535858, rs773595074, rs149255047, rs779524807, rs900948789, rs3124993, rs34971035, rs114895119, rs151057624, rs757527643, rs770532797, rs774391206, rs372934669	RCV003920910 RCV003938709 RCV003980409 RCV003893243 RCV003898679 RCV003981073 RCV003912571 RCV003970077 RCV003922644 RCV003960335 RCV003960336 RCV003905739 RCV003918266 RCV003943274
Cervical cancer	Conflicting classifications of pathogenicity	rs141992399	RCV005900240
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs141992399	RCV005900250
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	rs114895119	RCV005900520
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs141992399	RCV005900241
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	rs114895119, rs141992399	RCV005900514 RCV005900242
Gastric cancer	Conflicting classifications of pathogenicity	rs141992399	RCV005900244
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs141992399	RCV005900238
Lung cancer	Conflicting classifications of pathogenicity	rs114895119, rs141992399	RCV005900519 RCV005900251
Lymphoma	Conflicting classifications of pathogenicity	rs114895119, rs141992399	RCV005900515 RCV005900245
Melanoma	Conflicting classifications of pathogenicity	rs114895119, rs141992399	RCV005900518 RCV005900249
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs141992399	RCV005900239
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs141992399, rs756953515	RCV005900246 RCV005912515
Sarcoma	Conflicting classifications of pathogenicity	rs141992399	RCV005900243
Thymoma	Conflicting classifications of pathogenicity	rs114895119	RCV005900516
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	rs150480370, rs114895119, rs141992399	RCV005911270 RCV005900517 RCV005900248
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs141992399	RCV005900247

Show/Hide Text Mining Associations (69)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Lung Injury	Associate	29402133
Anxiety	Associate	38098267
Aspergillosis Allergic Bronchopulmonary	Associate	37461235
Autoimmune Diseases	Associate	36782298
Autoimmune Lymphoproliferative Syndrome	Inhibit	24131138
Autoimmune Lymphoproliferative Syndrome	Associate	24131138
Bacterial Infections	Associate	30837984
Candidiasis	Associate	23335372, 24704721
Candidiasis Chronic Mucocutaneous	Associate	30627128
Candidiasis familial chronic mucocutaneous autosomal recessive	Associate	25057046, 27777981, 29659908
Carcinogenesis	Associate	24018495
Carcinoma Hepatocellular	Stimulate	24018495
Carcinoma Non Small Cell Lung	Inhibit	32164050
Carcinoma Renal Cell	Associate	21944129
Cholangitis Sclerosing	Associate	21425313
Chromosome 9 trisomy mosaic	Associate	25057046
Colitis Ulcerative	Associate	18439550, 21425313, 24068945
Constipation	Associate	38098267
Crohn Disease	Associate	18439550, 24068945, 30818349
Death	Stimulate	21944129
Depressive Disorder	Associate	38098267
Dermatomycoses	Associate	37128909
Diabetes Mellitus	Associate	37958977
Disease	Associate	25057046
Emanuel syndrome	Associate	16512826
Exanthema	Associate	34234782
Fibromyalgia	Associate	38098267
Genetic Diseases Inborn	Associate	36003392
Glomerulonephritis IGA	Associate	37062285, 37685869
Graves Disease	Associate	33912135
Hepatitis E	Associate	25057046
Hyperbilirubinemia Conjugated Type III	Associate	24465786
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	35981264
Immune System Diseases	Associate	36003392
Immunologic Deficiency Syndromes	Inhibit	24131138, 24704721
Immunologic Deficiency Syndromes	Associate	30429846
Inflammation	Associate	21944129, 36248888
Inflammation	Inhibit	36248888
Inflammatory Bowel Diseases	Associate	19915667, 21983784, 26722558, 27802154, 29073062
Intestinal Failure	Associate	24465786
Invasive Fungal Infections	Associate	23335372, 24131138, 30837984, 36003392
Invasive Pulmonary Aspergillosis	Associate	27777981
Irritable Bowel Syndrome	Associate	38098267
Islet cell tumor syndrome	Associate	37958977
Leprosy	Associate	28842327
Leukemia B Cell	Associate	16177990
Liver Diseases	Associate	24465786
Lymphohistiocytosis Hemophagocytic	Associate	36532052
Lymphoma	Associate	16177990
Lymphoma B Cell Marginal Zone	Associate	16512826
Meningoencephalitis	Associate	24704721
Metabolic Diseases	Associate	37958977
Mycoses	Associate	30837984, 36532052
Mycosis Fungoides	Associate	36248888
Neoplasms	Associate	29511377, 32164050
Obesity	Associate	37958977
Osteoarthritis	Associate	38098267
Ovarian Neoplasms	Associate	34734468
Pleural Effusion Malignant	Associate	32164050
protothecosis	Associate	29659908
Segmental glomerulosclerosis	Associate	37062285
Severe Acute Respiratory Syndrome	Stimulate	26893103
Sleep Initiation and Maintenance Disorders	Associate	38098267
talaromycosis	Associate	34234782, 36180657
Tinea	Associate	36248888
Trichophyton infection	Associate	24131138
Ulcer	Associate	36248888
Uveomeningoencephalitic Syndrome	Associate	36782298
Viremia	Associate	30837984

CARD9 (caspase recruitment domain family member 9)