CARD8 caspase recruitment domain family member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CARD8provided by HGNC
Official Full Name: caspase recruitment domain family member 8provided by HGNC
Primary source: HGNC:HGNC:17057
See related: Ensembl:ENSG00000105483 MIM:609051; AllianceGenome:HGNC:17057
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: NDPP; DACAR; DAKAR; NDPP1; TUCAN; CARDINAL
Summary: The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
Expression: Broad expression in spleen (RPKM 13.6), lymph node (RPKM 11.5) and 24 other tissues See more
Orthologs: all
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Genomic context

Location:: 19q13.33

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48203148..48255946, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51197212..51250053, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (48706405..48759203, complement)

Chromosome 19 - NC_000019.10 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?

Association between C10X polymorphism in the CARD8 gene and inflammatory markers in young healthy individuals in the LBA study.
Title: Association between C10X polymorphism in the CARD8 gene and inflammatory markers in young healthy individuals in the LBA study.
The role of NLRP3 and CARD8 polymorphisms in the risk of rheumatoid arthritis: A meta-analysis of genetic association studies.
Title: The role of NLRP3 and CARD8 polymorphisms in the risk of rheumatoid arthritis: A meta-analysis of genetic association studies.
Variants of CARD8 in Leishmania guyanensis-cutaneous leishmaniasis and influence of the variants genotypes on circulating plasma cytokines IL-1beta, TNFalpha and IL-8.
Title: Variants of CARD8 in Leishmania guyanensis-cutaneous leishmaniasis and influence of the variants genotypes on circulating plasma cytokines IL-1β, TNFα and IL-8.
Tripping the wire: sensing of viral protease activity by CARD8 and NLRP1 inflammasomes.
Title: Tripping the wire: sensing of viral protease activity by CARD8 and NLRP1 inflammasomes.
A human-specific motif facilitates CARD8 inflammasome activation after HIV-1 infection.
Title: A human-specific motif facilitates CARD8 inflammasome activation after HIV-1 infection.
Inflammasome genes polymorphisms are associated with progression to mechanical ventilation and death in a cohort of hospitalized COVID-19 patients in a reference hospital in Rio de Janeiro, Brazil.
Title: Inflammasome genes polymorphisms are associated with progression to mechanical ventilation and death in a cohort of hospitalized COVID-19 patients in a reference hospital in Rio de Janeiro, Brazil.
Association between NLRP3 rs10754558 and CARD8 rs2043211 Variants and Susceptibility to Chronic Kidney Disease.
Title: Association between NLRP3 rs10754558 and CARD8 rs2043211 Variants and Susceptibility to Chronic Kidney Disease.
Protein folding stress potentiates NLRP1 and CARD8 inflammasome activation.
Title: Protein folding stress potentiates NLRP1 and CARD8 inflammasome activation.
The NLRP1 and CARD8 inflammasomes detect reductive stress.
Title: The NLRP1 and CARD8 inflammasomes detect reductive stress.
A ubiquitin-independent proteasome pathway controls activation of the CARD8 inflammasome.
Title: A ubiquitin-independent proteasome pathway controls activation of the CARD8 inflammasome.

Submit: New GeneRIF Correction See all GeneRIFs (86)

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
Inflammatory bowel disease 30 MedGen: C5436750 OMIM: 619079 GeneReviews: Not available	Compare labs

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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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

WI-14251 (e-PCR)
- UniSTS:25877

GDB:312794 (e-PCR)
- UniSTS:30247

SHGC-33567 (e-PCR)
- UniSTS:35151

D19S1113 (e-PCR)
- UniSTS:81764

D19S1010 (e-PCR)
- UniSTS:81765

RH16607 (e-PCR)
- UniSTS:16242

RH36905 (e-PCR)
- UniSTS:87932

Clone Names

FLJ18119, FLJ18121, KIAA0955, MGC57162, DKFZp779L0366

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CARD domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables NACHT domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables cysteine-type endopeptidase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables molecular condensate scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables pattern recognition receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables pattern recognition receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in CARD8 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in antiviral innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in inhibition of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in intrinsic apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of NLRP3 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lipopolysaccharide-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptotic inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in self proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of CARD8 inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
part_of NLRP3 inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NLRP3 inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
part_of canonical inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
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 nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
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 8

Names: CARD inhibitor of NF-kappaB-activating ligands; apoptotic protein NDPP1; tumor up-regulated CARD-containing antagonist of CASP9; tumor up-regulated CARD-containing antagonist of caspase nine

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_029574.3 RefSeqGene

Range

5034..52860

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001184900.3 → NP_001171829.1 caspase recruitment domain-containing protein 8 isoform a

See identical proteins and their annotated locations for NP_001171829.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a, also referred to as T60). Variants 1 and 10 encode the same protein (isoform a).

Source sequence(s)

AC011466, BC056891, CA448628, CB119078, DC404273, EU118120

Consensus CDS

CCDS54289.1

UniProtKB/Swiss-Prot

B5KVR6, B5KVR8, B7Z496, B7Z4A2, E5RFV9, E9PEM7, G3XAM9, Q6PGP8, Q96P82, Q9Y2G2

UniProtKB/TrEMBL

I6L9C6

Related

ENSP00000499211.1, ENST00000651546.1

Conserved Domains (2) summary

pfam00619
Location:453 → 535

CARD; Caspase recruitment domain

pfam13553
Location:182 → 436

FIIND; Function to find
NM_001184901.1 → NP_001171830.1 caspase recruitment domain-containing protein 8 isoform b

See identical proteins and their annotated locations for NP_001171830.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a. Variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AC011466, AK297045, AK297069, BC046136, CA448628

Consensus CDS

CCDS12712.2

UniProtKB/TrEMBL

I6L9C6

Related

ENSP00000391248.2, ENST00000447740.6

Conserved Domains (2) summary

pfam00619
Location:403 → 485

CARD; Caspase recruitment domain

pfam13553
Location:132 → 386

FIIND; Function to find
NM_001184902.2 → NP_001171831.1 caspase recruitment domain-containing protein 8 isoform c

See identical proteins and their annotated locations for NP_001171831.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a. Variants 4 and 5 encode the same isoform (c).

Source sequence(s)

AC011466, AF322184, AF511652, BC056891, CA448628, CB119078, DC404273

Consensus CDS

CCDS54288.1

UniProtKB/Swiss-Prot

Q9Y2G2

Related

ENSP00000429839.1, ENST00000520753.5

Conserved Domains (1) summary

pfam13553
Location:182 → 387

FIIND; Function to find
NM_001184903.1 → NP_001171832.1 caspase recruitment domain-containing protein 8 isoform c

See identical proteins and their annotated locations for NP_001171832.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a. Variants 4 and 5 encode the same isoform (c).

Source sequence(s)

AC011466, AF322184, AK297045, BC046136, CA448628

Consensus CDS

CCDS54288.1

UniProtKB/Swiss-Prot

Q9Y2G2

Related

ENSP00000430747.1, ENST00000520015.5

Conserved Domains (1) summary

pfam13553
Location:182 → 387

FIIND; Function to find
NM_001184904.2 → NP_001171833.1 caspase recruitment domain-containing protein 8 isoform d

See identical proteins and their annotated locations for NP_001171833.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, 3' coding region, and 3' UTR compared to variant 1. The resulting isoform (d) is shorter than isoform a.

Source sequence(s)

AC011466, AI040349, BC046136, DC404273

Consensus CDS

CCDS54287.1

UniProtKB/TrEMBL

E5RFV9

Related

ENSP00000430108.1, ENST00000519332.5
NM_001351782.2 → NP_001338711.1 caspase recruitment domain-containing protein 8 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. Variants 1 and 10 encode the same protein (isoform a).

Source sequence(s)

AC011466, BC056891, CA448628, CB119078, DC404273, EU118120

Consensus CDS

CCDS54289.1

UniProtKB/Swiss-Prot

B5KVR6, B5KVR8, B7Z496, B7Z4A2, E5RFV9, E9PEM7, G3XAM9, Q6PGP8, Q96P82, Q9Y2G2

UniProtKB/TrEMBL

I6L9C6

Related

ENSP00000428883.1, ENST00000519940.6

Conserved Domains (2) summary

pfam00619
Location:453 → 535

CARD; Caspase recruitment domain

pfam13553
Location:182 → 436

FIIND; Function to find
NM_001351783.2 → NP_001338712.1 caspase recruitment domain-containing protein 8 isoform b

Status: REVIEWED

Source sequence(s)

AC008392, AC011466, AF322184, AF511652, BC045539, BC056891, CA389350, CA448628, DC404273

Consensus CDS

CCDS12712.2

UniProtKB/TrEMBL

I6L9C6

Conserved Domains (2) summary

pfam00619
Location:403 → 485

CARD; Caspase recruitment domain

pfam13553
Location:132 → 386

FIIND; Function to find
NM_001351784.2 → NP_001338713.1 caspase recruitment domain-containing protein 8 isoform e

Status: REVIEWED

Source sequence(s)

AC011466, AF322184, AF511652, BC056891, CA448628, CR983845, DC347384, DC382648, DC404273

UniProtKB/TrEMBL

B5KVR7

Conserved Domains (2) summary

pfam00619
Location:348 → 430

CARD; Caspase recruitment domain

pfam13553
Location:77 → 331

FIIND; Function to find
NM_001351786.2 → NP_001338715.1 caspase recruitment domain-containing protein 8 isoform f

Status: REVIEWED

Source sequence(s)

AC011466, AF322184, AF511652, BC056891, CA448628, CR983845, DC382648, DC404273

UniProtKB/TrEMBL

B5KVR7

Conserved Domains (2) summary

pfam00619
Location:341 → 423

CARD; Caspase recruitment domain

pfam13553
Location:70 → 324

FIIND; Function to find
NM_001351787.2 → NP_001338716.1 caspase recruitment domain-containing protein 8 isoform g

Status: REVIEWED

Source sequence(s)

AC011466, AF143869, AK302327, DC382648, DC404273

Conserved Domains (1) summary

pfam13553
Location:77 → 331

FIIND; Function to find
NM_001351788.2 → NP_001338717.1 caspase recruitment domain-containing protein 8 isoform h

Status: REVIEWED

Source sequence(s)

AC011466, AF322184, AF511652, BC056891, CA448628, DC382648, DC404273

Conserved Domains (1) summary

pfam13553
Location:132 → 337

FIIND; Function to find
NM_001351789.2 → NP_001338718.1 caspase recruitment domain-containing protein 8 isoform h

Status: REVIEWED

Source sequence(s)

AC011466, AF322184, AF511652, BC056891, CA448628, DC382648, DC404273

Conserved Domains (1) summary

pfam13553
Location:132 → 337

FIIND; Function to find
NM_001351790.2 → NP_001338719.1 caspase recruitment domain-containing protein 8 isoform i

Status: REVIEWED

Source sequence(s)

AC011466, AF322184, AF511652, BC056891, CA448628, CB119078, DC404273

Conserved Domains (1) summary

pfam13553
Location:101 → 306

FIIND; Function to find
NM_001351791.2 → NP_001338720.1 caspase recruitment domain-containing protein 8 isoform j

Status: REVIEWED

Source sequence(s)

AC011466, AF322184, AF511652, BC056891, CA448628, DA675182, DC382648, DC404273

Conserved Domains (1) summary

pfam13553
Location:77 → 282

FIIND; Function to find
NM_001351792.2 → NP_001338721.1 caspase recruitment domain-containing protein 8 isoform j

Status: REVIEWED

Source sequence(s)

AC011466, AF322184, AF511652, BC056891, CA448628, DA675182, DC347384, DC404273

Conserved Domains (1) summary

pfam13553
Location:77 → 282

FIIND; Function to find
NM_001365950.1 → NP_001352879.1 caspase recruitment domain-containing protein 8 isoform k

Status: REVIEWED

Source sequence(s)

AC008392, AC011466

UniProtKB/TrEMBL

B5KVR7

Conserved Domains (2) summary

pfam00619
Location:347 → 429

CARD; Caspase recruitment domain

pfam13553
Location:77 → 330

FIIND; Function to find
NM_001426741.1 → NP_001413670.1 caspase recruitment domain-containing protein 8 isoform l

Status: REVIEWED

Source sequence(s)

CP068259
NM_014959.5 → NP_055774.2 caspase recruitment domain-containing protein 8 isoform b

See identical proteins and their annotated locations for NP_055774.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a. Variants 2, 3 and 11 encode the same isoform (b).

Source sequence(s)

AC011466, AF322184, AF511652, BC045539, BC056891, CA389350, CA448628, DC404273

Consensus CDS

CCDS12712.2

UniProtKB/TrEMBL

I6L9C6

Related

ENSP00000428736.1, ENST00000520153.5

Conserved Domains (2) summary

pfam00619
Location:403 → 485

CARD; Caspase recruitment domain

pfam13553
Location:132 → 386

FIIND; Function to find

RNA

NR_033678.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC011466, AF322184, CA448628

Related

ENST00000518622.5
NR_033679.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC011466, BC056891, CA448628, EU118121
NR_033680.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC011466, AF511652, CA448628
NR_147707.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC011466, AF143869, AK302327, DC347384, DC404273