CARD9 caspase recruitment domain family member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CARD9provided by HGNC
Official Full Name: caspase recruitment domain family member 9provided by HGNC
Primary source: HGNC:HGNC:16391
See related: Ensembl:ENSG00000187796 MIM:607212; AllianceGenome:HGNC:16391
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CANDF2; IMD103; hCARD9
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 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]
Expression: Broad expression in bone marrow (RPKM 5.8), spleen (RPKM 4.7) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (136363956..136373669, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (148593287..148603003, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (139258408..139268121, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CARD9 mutations in patients with fungal infections: An update from the last 5 years.
Title: CARD9 mutations in patients with fungal infections: An update from the last 5 years.
Role of CARD9 in Cell- and Organ-Specific Immune Responses in Various Infections.
Title: Role of CARD9 in Cell- and Organ-Specific Immune Responses in Various Infections.
Polymorphisms of CARD9 Gene Predict Disease Progression and Renal Survival of Immunoglobulin A Nephropathy.
Title: Polymorphisms of CARD9 Gene Predict Disease Progression and Renal Survival of Immunoglobulin A Nephropathy.
Regulatory roles of CARD9-BCL10-Rac1 (CBR) signalome in islet beta-cell function in health and metabolic stress: Is there room for MALT1?
Title: Regulatory roles of CARD9-BCL10-Rac1 (CBR) signalome in islet β-cell function in health and metabolic stress: Is there room for MALT1?
CARD9 gene rs4077515 polymorphism is associated with the susceptibility of Hashimoto's thyroiditis and the development of thyroid cancer.
Title: CARD9 gene rs4077515 polymorphism is associated with the susceptibility of Hashimoto's thyroiditis and the development of thyroid cancer.
Expression of mir-25-3p, CARD9 and Surviving in Acute Pancreatitis and Predictive Value for Patient Outcome.
Title: Expression of mir-25-3p, CARD9 and Surviving in Acute Pancreatitis and Predictive Value for Patient Outcome.
Heterozygous CARD9 mutation favors the development of allergic bronchopulmonary aspergillosis.
Title: Heterozygous CARD9 mutation favors the development of allergic bronchopulmonary aspergillosis.
CARD9 balances Aspergillus fumigatus-induced anti-fungal immunity and allergic inflammation.
Title: CARD9 balances Aspergillus fumigatus-induced anti-fungal immunity and allergic inflammation.
CARD9, VAV3, and infection risk in IgA nephropathy.
Title: CARD9, VAV3, and infection risk in IgA nephropathy.
Mesenchymal stem cells regulate M1 polarization of peritoneal macrophages through the CARD9-NF-kappaB signaling pathway in severe acute pancreatitis.
Title: Mesenchymal stem cells regulate M1 polarization of peritoneal macrophages through the CARD9-NF-κB signaling pathway in severe acute pancreatitis.

Submit: New GeneRIF Correction See all GeneRIFs (78)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Predisposition to invasive fungal disease due to CARD9 deficiency MedGen: C1859353 OMIM: 212050 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association replicates the association of Duffy antigen receptor for chemokines (DARC) polymorphisms with serum monocyte chemoattractant protein-1 (MCP-1) levels in Hispanic children. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CARD domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in antifungal innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in antifungal innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to Gram-positive bacterium	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in host-mediated regulation of intestinal microbiota composition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immunoglobulin mediated immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neutrophil mediated immunity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of T-helper 17 type immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of chemokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production involved in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of granulocyte macrophage colony-stimulating factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of innate immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-17 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-6 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of macrophage cytokine production	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of stress-activated MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stress-activated MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of interleukin-2 production	IEA Inferred from Electronic Annotation more info
involved_in response to aldosterone	IEA Inferred from Electronic Annotation more info
involved_in response to exogenous dsRNA	IEA Inferred from Electronic Annotation more info
involved_in response to muramyl dipeptide	IEA Inferred from Electronic Annotation more info
involved_in response to peptidoglycan	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in stress-activated MAPK cascade	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of CBM complex	IBA Inferred from Biological aspect of Ancestor more info
part_of CBM complex	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: caspase recruitment domain-containing protein 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021197.1 RefSeqGene

Range

5001..14726

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_178

mRNA and Protein(s)

NM_052813.5 → NP_434700.2 caspase recruitment domain-containing protein 9 isoform 1

See identical proteins and their annotated locations for NP_434700.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AF311287, AK292081, AL592301, BM148244

Consensus CDS

CCDS6997.1

UniProtKB/Swiss-Prot

Q5SXM5, Q5SXM6, Q9H257, Q9H854

Related

ENSP00000360797.5, ENST00000371732.10

Conserved Domains (1) summary

cd08809
Location:10 → 95

CARD_CARD9; Caspase activation and recruitment domain of CARD9-like proteins
NM_052814.4 → NP_434701.1 caspase recruitment domain-containing protein 9 isoform 2

See identical proteins and their annotated locations for NP_434701.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses alternate splice sites in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2 which has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

BC008877, BM148244

Consensus CDS

CCDS48057.1

UniProtKB/Swiss-Prot

Q9H257

Related

ENSP00000360799.3, ENST00000371734.7

Conserved Domains (2) summary

cd08809
Location:10 → 95

CARD_CARD9; Caspase activation and recruitment domain of CARD9-like proteins

cl25732
Location:127 → 396

SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

136363956..136373669 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

148593287..148603003 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_022352.2: Suppressed sequence

Description

NM_022352.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.