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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
q34.3
Chromosome location (bp)
136363956 - 136373681
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Adapter protein that plays a key role in innate immune response against fungi by forming signaling complexes downstream of C-type lectin receptors 1,2. CARD9-mediated signals are essential for antifungal immunity against a subset of fungi from the phylum Ascomycota 3,4,5,6,7,8,9,10,11. Transduces signals in myeloid cells downstream of C-type lectin receptors CLEC7A (dectin-1), CLEC6A (dectin-2) and CLEC4E (Mincle), which detect pathogen-associated molecular pattern metabolites (PAMPs), such as fungal carbohydrates, and trigger CARD9 activation (By similarity). Upon activation, CARD9 homooligomerizes to form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerization of BCL10 and subsequent recruitment of MALT1: this leads to activation of NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines 12,13,14,15,16. CARD9 signaling in antigen-presenting cells links innate sensing of fungi to the activation of adaptive immunity and provides a cytokine milieu that induces the development and subsequent of interleukin 17-producing T helper (Th17) cells 17. Also involved in activation of myeloid cells via classical ITAM-associated receptors and TLR: required for TLR-mediated activation of MAPK, while it is not required for TLR-induced activation of NF-kappa-B (By similarity). CARD9 can also be engaged independently of BCL10: forms a complex with RASGRF1 downstream of C-type lectin receptors, which recruits and activates HRAS, leading to ERK activation and the production of cytokines (By similarity). Acts as an important regulator of the intestinal commensal fungi (mycobiota) component of the gut microbiota 18. Plays an essential role in antifungal immunity against dissemination of gut fungi: acts by promoting induction of antifungal IgG antibodies response in CX3CR1(+) macrophages to confer protection against disseminated C.albicans or C.auris infection 19. Also mediates immunity against other pathogens, such as certain bacteria, viruses and parasites; CARD9 signaling is however redundant with other innate immune responses (By similarity). In response to L.monocytogenes infection, required for the production of inflammatory cytokines activated by intracellular peptidoglycan: acts by connecting NOD2 recognition of peptidoglycan to downstream activation of MAP kinases (MAPK) without activating NF-kappa-B (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Adaptive immunity, Immunity, Innate immunity
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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 suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001819[positive regulation of cytokine production] GO:0002250[adaptive immune response] GO:0002376[immune system process] GO:0002446[neutrophil mediated immunity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0007254[JNK cascade] GO:0009410[response to xenobiotic stimulus] GO:0009620[response to fungus] GO:0016064[immunoglobulin mediated immune response] GO:0019904[protein domain specific binding] GO:0032449[CBM complex] GO:0032494[response to peptidoglycan] GO:0032495[response to muramyl dipeptide] GO:0032663[regulation of interleukin-2 production] GO:0032675[regulation of interleukin-6 production] GO:0032680[regulation of tumor necrosis factor production] GO:0032722[positive regulation of chemokine production] GO:0032725[positive regulation of granulocyte macrophage colony-stimulating factor production] GO:0032740[positive regulation of interleukin-17 production] GO:0032755[positive regulation of interleukin-6 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032874[positive regulation of stress-activated MAPK cascade] GO:0032991[protein-containing complex] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043330[response to exogenous dsRNA] GO:0043621[protein self-association] GO:0045087[innate immune response] GO:0045089[positive regulation of innate immune response] GO:0046330[positive regulation of JNK cascade] GO:0046872[metal ion binding] GO:0048874[host-mediated regulation of intestinal microbiota composition] GO:0050700[CARD domain binding] GO:0050830[defense response to Gram-positive bacterium] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051260[protein homooligomerization] GO:0051403[stress-activated MAPK cascade] GO:0051607[defense response to virus] GO:0060907[positive regulation of macrophage cytokine production] GO:0061760[antifungal innate immune response] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:1900017[positive regulation of cytokine production involved in inflammatory response] GO:2000318[positive regulation of T-helper 17 type immune response]
Q9H257 [Direct mapping] Caspase recruitment domain-containing protein 9
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Other immune system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001819[positive regulation of cytokine production] GO:0002250[adaptive immune response] GO:0002376[immune system process] GO:0002446[neutrophil mediated immunity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0016064[immunoglobulin mediated immune response] GO:0032725[positive regulation of granulocyte macrophage colony-stimulating factor production] GO:0032740[positive regulation of interleukin-17 production] GO:0032755[positive regulation of interleukin-6 production] GO:0032874[positive regulation of stress-activated MAPK cascade] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043621[protein self-association] GO:0045087[innate immune response] GO:0046330[positive regulation of JNK cascade] GO:0046872[metal ion binding] GO:0048874[host-mediated regulation of intestinal microbiota composition] GO:0050700[CARD domain binding] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051260[protein homooligomerization] GO:0061760[antifungal innate immune response] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:1900017[positive regulation of cytokine production involved in inflammatory response] GO:2000318[positive regulation of T-helper 17 type immune response]
The Human Protein Atlas project is funded
