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

    Gene ID: 22900, updated on 14-Nov-2024

    Summary

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    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

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    See CARD8 in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene DNA ligase 1 Neighboring gene uncharacterized LOC107985293 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:48673083-48673742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14872 Neighboring gene zinc finger SWIM-type containing 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48691653-48691885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48699771-48700283 Neighboring gene uncharacterized LOC124904734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14875 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48763364-48763544 Neighboring gene CARD8 antisense RNA 1 Neighboring gene vomeronasal 1 receptor 97 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14876 Neighboring gene ZNF114 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48774579-48775085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48775086-48775591 Neighboring gene zinc finger protein 114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48794631-48795279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48798559-48799060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48799061-48799560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48800397-48800914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48806581-48807105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48807106-48807629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48811608-48812298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48812299-48812988 Neighboring gene outer dynein arm docking complex subunit 1 Neighboring gene Sharpr-MPRA regulatory region 8297 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10875 Neighboring gene uncharacterized LOC124904735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14879 Neighboring gene Sharpr-MPRA regulatory region 73

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. CARD8 gene encoding a protein of innate immunity is expressed in human atherosclerosis and associated with markers of inflammation. Paramel GV, et al. Clin Sci (Lond), 2013 Oct. PMID 23611467
    2. Activation of the CARD8 Inflammasome Requires a Disordered Region. Chui AJ, et al. Cell Rep, 2020 Oct 13. PMID 33053349, Free PMC Article
    3. CARD8 inflammasome activation triggers pyroptosis in human T cells. Linder A, et al. EMBO J, 2020 Oct 1. PMID 32840892, Free PMC Article
    4. SNP rs2043211 (p.C10X) in CARD8 Is Associated with Large-Artery Atherosclerosis Stroke in a Chinese Population. Gu J, et al. J Mol Neurosci, 2021 Feb. PMID 32613553
    5. A New Risk Polymorphism rs10403848 of CARD8 Significantly Associated with Psoriasis Vulgaris in Northeastern China. Yu P, et al. Biomed Res Int, 2020. PMID 32104685, Free PMC Article

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CARD8: A Novel Inflammasome Sensor with Well-Known Anti-Inflammatory and Anti-Apoptotic Activity.
      Title: CARD8: A Novel Inflammasome Sensor with Well-Known Anti-Inflammatory and Anti-Apoptotic Activity.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. Protein folding stress potentiates NLRP1 and CARD8 inflammasome activation.
      Title: Protein folding stress potentiates NLRP1 and CARD8 inflammasome activation.
    10. The NLRP1 and CARD8 inflammasomes detect reductive stress.
      Title: The NLRP1 and CARD8 inflammasomes detect reductive stress.
    Submit: New GeneRIF Correction See all GeneRIFs (87)

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 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 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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    NEW Try the new Transcript table

    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

    1. NG_029574.3 RefSeqGene

      Range
      5034..52860
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    6. 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

    7. 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

    8. 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

    9. 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

    10. 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

    11. 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

    12. 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

    13. 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

    14. 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

    15. 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

    16. 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

    17. NM_001426741.1 → NP_001413670.1  caspase recruitment domain-containing protein 8 isoform l

      Status: REVIEWED

      Source sequence(s)
      CP068259

    18. 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

    1. 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

    2. 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

    3. 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

    4. NR_147707.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC011466, AF143869, AK302327, DC347384, DC404273

    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

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48203148..48255946 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51197212..51250053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2G2.2 GenPept UniProtKB/Swiss-Prot:Q9Y2G2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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