CARD9 (caspase recruitment domain family member 9)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64170
Gene name Gene Name - the full gene name approved by the HGNC.
Caspase recruitment domain family member 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CARD9
Synonyms (NCBI Gene) Gene synonyms aliases
CANDF2, IMD103, hCARD9
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.3
Summary Summary of gene provided in NCBI Entrez 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 suppress
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607212 16391 ENSG00000187796
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
Tuberculosis
Herpes simplex virus 1 infection 		  CLEC7A (Dectin-1) signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency Inherited Immunodeficiency Diseases rs1379376784 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Deep dermatophytosis deep dermatophytosis N/A N/A GenCC
Inflammatory Bowel Disease Inflammatory bowel disease, Inflammatory bowel disease (MTAG) N/A N/A GWAS
Show/Hide Text Mining Associations (69)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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