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Aliases for CARD9 Gene

Aliases for CARD9 Gene

  • Caspase Recruitment Domain Family Member 9 2 3 5
  • HCARD9 3 4
  • Caspase Recruitment Domain-Containing Protein 9 3
  • Caspase Recruitment Domain Family, Member 9 2
  • CANDF2 3

External Ids for CARD9 Gene

Previous GeneCards Identifiers for CARD9 Gene

  • GC09M130326
  • GC09M130947
  • GC09M132699
  • GC09M134615
  • GC09M136532
  • GC09M138373
  • GC09M138378
  • GC09M139259
  • GC09M108717

Summaries for CARD9 Gene

Entrez Gene Summary for CARD9 Gene

  • 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]

GeneCards Summary for CARD9 Gene

CARD9 (Caspase Recruitment Domain Family Member 9) is a Protein Coding gene. Diseases associated with CARD9 include Candidiasis, Familial, 2, Autosomal Recessive and Dermatophytosis. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Toll-Like receptor Signaling Pathways. GO annotations related to this gene include protein homodimerization activity and CARD domain binding. An important paralog of this gene is CARD11.

UniProtKB/Swiss-Prot for CARD9 Gene

  • Adapter protein that plays a key role in innate immune response to a number of intracellular pathogens, such as C.albicans and L.monocytogenes. Is at the crossroads of ITAM-tyrosine kinase and the Toll-like receptors (TLR) and NOD2 signaling pathways. Probably controls various innate immune response pathways depending on the intracellular pathogen. In response to L.monocytogenes infection, acts by connecting NOD2 recognition of peptidoglycan to downstream activation of MAP kinases (MAPK) without activating NF-kappa-B. 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). Controls CLEC7A (dectin-1)-mediated myeloid cell activation induced by the yeast cell wall component zymosan, leading to cytokine production and innate anti-fungal immunity: acts by regulating BCL10-MALT1-mediated NF-kappa-B activation pathway. Activates NF-kappa-B via BCL10. In response to the hyphal form of C.albicans, mediates CLEC6A (dectin-2)-induced I-kappa-B kinase ubiquitination, leading to NF-kappa-B activation via interaction with BCL10. In response to fungal infection, may be required for the development and subsequent differentiation of interleukin 17-producing T helper (TH-17) cells.

Gene Wiki entry for CARD9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARD9 Gene

Genomics for CARD9 Gene

Regulatory Elements for CARD9 Gene

Enhancers for CARD9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G136398 1.6 FANTOM5 ENCODE dbSUPER 11.7 -26.1 -26141 3.0 HDGF CREB3L1 AGO1 ARID4B SIN3A ZNF766 ZNF207 ZNF143 DEK REST INPP5E DNLZ SNAPC4 ANAPC2 SNHG7 CARD9 SEC16A NDOR1 FAM69B TRAF2
GH09G136358 1.1 ENCODE 15.8 +12.1 12080 5.5 HDGF MLX ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 DNLZ INPP5E NPDC1 SNAPC4 CARD9 SNHG7 ANAPC2 C9orf172 SAPCD2 GPSM1
GH09G136408 1.1 ENCODE 11.6 -36.8 -36772 3.6 HDGF MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 INPP5E DNLZ SEC16A SNAPC4 SNHG7 GPSM1 CARD9 ANAPC2 PIR36061 PMPCA
GH09G136403 1 Ensembl ENCODE 11.6 -30.7 -30729 2.5 CTCF HDGF MXI1 ZIC2 RELA POLR2A EED ZNF143 ZNF600 ETV6 DNLZ INPP5E SNAPC4 SEC16A CARD9 GPSM1 PIR41359 GC09M136410 PIR36061
GH09G136642 2 FANTOM5 Ensembl ENCODE dbSUPER 2.7 -271.4 -271409 5.8 HDGF PKNOX1 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B EGFL7 AGPAT2 FAM69B SEC16A C9orf163 MAN1B1 ARRDC1-AS1 NOTCH1 UAP1L1 CARD9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CARD9 on UCSC Golden Path with GeneCards custom track

Genomic Location for CARD9 Gene

Chromosome:
9
Start:
136,361,903 bp from pter
End:
136,373,681 bp from pter
Size:
11,779 bases
Orientation:
Minus strand

Genomic View for CARD9 Gene

Genes around CARD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARD9 Gene

Proteins for CARD9 Gene

  • Protein details for CARD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H257-CARD9_HUMAN
    Recommended name:
    Caspase recruitment domain-containing protein 9
    Protein Accession:
    Q9H257
    Secondary Accessions:
    • Q5SXM5
    • Q5SXM6
    • Q9H854

    Protein attributes for CARD9 Gene

    Size:
    536 amino acids
    Molecular mass:
    62241 Da
    Quaternary structure:
    • Interacts with NOD2 (via NACHT domain) (PubMed:24960071). Interacts with RIPK2 (By similarity). Interacts with VHL; without leading to protein degradation (By similarity). Self-associates. Interacts (via CARD domain) with BCL10 (via CARD domain) (PubMed:11053425).

    Alternative splice isoforms for CARD9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CARD9 Gene

Post-translational modifications for CARD9 Gene

  • Phosphorylated at Thr-531 and Thr-533 by CK2 following interaction with VHL, leading to inhibit the ability to activate NF-kappa-B.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CARD9 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CARD9 (CARD9)
  • Cloud-Clone Corp. Antibodies for CARD9

No data available for DME Specific Peptides for CARD9 Gene

Domains & Families for CARD9 Gene

Gene Families for CARD9 Gene

Protein Domains for CARD9 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CARD9: view

No data available for UniProtKB/Swiss-Prot for CARD9 Gene

Function for CARD9 Gene

Molecular function for CARD9 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that plays a key role in innate immune response to a number of intracellular pathogens, such as C.albicans and L.monocytogenes. Is at the crossroads of ITAM-tyrosine kinase and the Toll-like receptors (TLR) and NOD2 signaling pathways. Probably controls various innate immune response pathways depending on the intracellular pathogen. In response to L.monocytogenes infection, acts by connecting NOD2 recognition of peptidoglycan to downstream activation of MAP kinases (MAPK) without activating NF-kappa-B. 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). Controls CLEC7A (dectin-1)-mediated myeloid cell activation induced by the yeast cell wall component zymosan, leading to cytokine production and innate anti-fungal immunity: acts by regulating BCL10-MALT1-mediated NF-kappa-B activation pathway. Activates NF-kappa-B via BCL10. In response to the hyphal form of C.albicans, mediates CLEC6A (dectin-2)-induced I-kappa-B kinase ubiquitination, leading to NF-kappa-B activation via interaction with BCL10. In response to fungal infection, may be required for the development and subsequent differentiation of interleukin 17-producing T helper (TH-17) cells.

Gene Ontology (GO) - Molecular Function for CARD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22267217
GO:0019904 protein domain specific binding IEA --
GO:0042803 protein homodimerization activity IPI 11053425
GO:0050700 CARD domain binding IPI 11053425
genes like me logo Genes that share ontologies with CARD9: view
genes like me logo Genes that share phenotypes with CARD9: view

Human Phenotype Ontology for CARD9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CARD9 Gene

MGI Knock Outs for CARD9:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CARD9

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CARD9 Gene

Localization for CARD9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARD9 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CARD9 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 2
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CARD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IDA,IEA 11053425
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CARD9: view

Pathways & Interactions for CARD9 Gene

genes like me logo Genes that share pathways with CARD9: view

Pathways by source for CARD9 Gene

SIGNOR curated interactions for CARD9 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CARD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002376 immune system process IEA --
GO:0007249 I-kappaB kinase/NF-kappaB signaling IEA --
GO:0009620 response to fungus IEA --
GO:0032494 response to peptidoglycan IEA --
genes like me logo Genes that share ontologies with CARD9: view

Drugs & Compounds for CARD9 Gene

No Compound Related Data Available

Transcripts for CARD9 Gene

Unigene Clusters for CARD9 Gene

Caspase recruitment domain family, member 9:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CARD9

Alternative Splicing Database (ASD) splice patterns (SP) for CARD9 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^
SP1: - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6: -
SP7: -
SP8:
SP9:

ExUns: 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CARD9 Gene

GeneLoc Exon Structure for
CARD9
ECgene alternative splicing isoforms for
CARD9

Expression for CARD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CARD9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CARD9 Gene

This gene is overexpressed in Whole Blood (x6.5) and Spleen (x5.9).

Protein differential expression in normal tissues from HIPED for CARD9 Gene

This gene is overexpressed in Pancreas (39.9), Peripheral blood mononuclear cells (7.2), and Blymphocyte (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CARD9 Gene



NURSA nuclear receptor signaling pathways regulating expression of CARD9 Gene:

CARD9

SOURCE GeneReport for Unigene cluster for CARD9 Gene:

Hs.694071

mRNA Expression by UniProt/SwissProt for CARD9 Gene:

Q9H257-CARD9_HUMAN
Tissue specificity: Highly expressed in spleen. Also detected in liver, placenta, lung, peripheral blood leukocytes and in brain.

Evidence on tissue expression from TISSUES for CARD9 Gene

  • Blood(4.4)
  • Muscle(4.3)
  • Spleen(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CARD9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • reproductive
  • respiratory
  • skeleton
Organs:
Head and neck:
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • esophagus
  • thymus
Abdomen:
  • liver
  • spleen
Pelvis:
  • vagina
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CARD9: view

Primer Products

No data available for Protein tissue co-expression partners for CARD9 Gene

Orthologs for CARD9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CARD9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CARD9 34 35
  • 99 (n)
dog
(Canis familiaris)
Mammalia CARD9 34 35
  • 87.56 (n)
cow
(Bos Taurus)
Mammalia CARD9 34 35
  • 85.88 (n)
rat
(Rattus norvegicus)
Mammalia Card9 34
  • 85.23 (n)
mouse
(Mus musculus)
Mammalia Card9 34 16 35
  • 84.55 (n)
oppossum
(Monodelphis domestica)
Mammalia CARD9 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CARD9 35
  • 8 (a)
OneToOne
chicken
(Gallus gallus)
Aves CARD9 34 35
  • 67.48 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia card9 34
  • 63.92 (n)
zebrafish
(Danio rerio)
Actinopterygii card9 34 35
  • 56.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 17 (a)
OneToMany
Species where no ortholog for CARD9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CARD9 Gene

ENSEMBL:
Gene Tree for CARD9 (if available)
TreeFam:
Gene Tree for CARD9 (if available)

Paralogs for CARD9 Gene

Paralogs for CARD9 Gene

(1) SIMAP similar genes for CARD9 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CARD9: view

Variants for CARD9 Gene

Sequence variations from dbSNP and Humsavar for CARD9 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs149712114 Pathogenic, Candidiasis, familial, 2 (CANDF2) [MIM:212050] 136,367,788(+) GGCCC(C/G/T)GGGCG reference, missense
rs398122362 Pathogenic, Candidiasis, familial, 2 (CANDF2) [MIM:212050] 136,371,432(-) GGACC(A/G)GCCAC reference, missense
rs398122364 Pathogenic, Candidiasis, familial, 2 (CANDF2) [MIM:212050] 136,371,345(-) CGGCC(C/T)GCGTC reference, missense
rs121918338 Pathogenic 136,370,362(-) ACCAC(C/T)AGGAG reference, stop-gained
rs398122363 Pathogenic 136,370,380(-) GGCGG(C/T)AGGCG reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for CARD9 Gene

Variant ID Type Subtype PubMed ID
esv2759720 CNV loss 17122850
nsv1046074 CNV gain 25217958
nsv469918 CNV loss 18288195
nsv509333 CNV insertion 20534489
nsv615962 CNV loss 21841781
nsv6764 CNV deletion 18451855
nsv825173 CNV gain 20364138
nsv831760 CNV loss 17160897
nsv951202 CNV deletion 24416366

Variation tolerance for CARD9 Gene

Residual Variation Intolerance Score: 90.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.21; 80.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CARD9 Gene

Human Gene Mutation Database (HGMD)
CARD9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARD9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARD9 Gene

Disorders for CARD9 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CARD9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
candidiasis, familial, 2, autosomal recessive
  • candidiasis, familial, 2
dermatophytosis
  • tinea
phaeohyphomycosis
  • infection by dematiacious fungi
candidiasis
  • disseminated candidiasis
deep dermatophytosis
  • disseminated granulomatous dermatophytosis
- elite association - COSMIC cancer census association via MalaCards
Search CARD9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CARD9_HUMAN
  • Candidiasis, familial, 2 (CANDF2) [MIM:212050]: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. {ECO:0000269 PubMed:19864672, ECO:0000269 PubMed:23335372, ECO:0000269 PubMed:24131138}. Note=The disease is caused by mutations affecting the gene represented in this entry. Defects induce reduced numbers of CD4(+) Th17 lymphocytes as well as a lack of monocyte-derived cytokines in response to Candida strains. Neutrophils show a selective Candida albicans killing defect with abnormal ultrastructural phagolysosomes and outgrowth of hyphae (PubMed:23335372). {ECO:0000269 PubMed:23335372}.

Relevant External Links for CARD9

Genetic Association Database (GAD)
CARD9
Human Genome Epidemiology (HuGE) Navigator
CARD9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARD9
genes like me logo Genes that share disorders with CARD9: view

No data available for Genatlas for CARD9 Gene

Publications for CARD9 Gene

  1. CARD9 is a novel caspase recruitment domain-containing protein that interacts with Bcl10/CLAP and activates NF-kappa B. (PMID: 11053425) Bertin J. … Alnemri E.S. (J. Biol. Chem. 2000) 2 3 4 64
  2. Deep dermatophytosis and inherited CARD9 deficiency. (PMID: 24131138) Lanternier F. … Puel A. (N. Engl. J. Med. 2013) 3 4 64
  3. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PMID: 21297633) Anderson C.A. … Rioux J.D. (Nat. Genet. 2011) 3 46 64
  4. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. (PMID: 21743469) Evans D.M. … . (Nat. Genet. 2011) 3 46 64
  5. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PMID: 21102463) Franke A. … Parkes M. (Nat. Genet. 2010) 3 46 64

Products for CARD9 Gene

  • Addgene plasmids for CARD9

Sources for CARD9 Gene

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