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    CARD6 caspase recruitment domain family member 6 [ Homo sapiens (human) ]

    Gene ID: 84674, updated on 9-Dec-2024

    Summary

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    Official Symbol
    CARD6provided by HGNC
    Official Full Name
    caspase recruitment domain family member 6provided by HGNC
    Primary source
    HGNC:HGNC:16394
    See related
    Ensembl:ENSG00000132357 MIM:609986; AllianceGenome:HGNC:16394
    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
    CINCIN1
    Summary
    This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in gall bladder (RPKM 6.9), spleen (RPKM 6.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CARD6 in Genome Data Viewer
    Location:
    5p13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (40841367..40855354)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (41097788..41111778)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (40841469..40855456)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protein kinase AMP-activated catalytic subunit alpha 1 Neighboring gene small nucleolar RNA SNORA57 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15984 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:40801183-40802004 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22504 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:40835903-40836726 Neighboring gene small nucleolar RNA, C/D box 72 Neighboring gene ribosomal protein L37 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:40860098-40860299 Neighboring gene MPRA-validated peak5236 silencer Neighboring gene MPRA-validated peak5237 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:40877367-40878566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:40895839-40896488 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:40916273-40916808 Neighboring gene RNA, U7 small nuclear 161 pseudogene Neighboring gene complement C7 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:41008527-41009726 Neighboring gene maestro heat like repeat family member 2B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:41064203-41064771

    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
    • 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. Expression of CARD6, an NF-kappaB activator, in gastric, colorectal and oesophageal cancers. Kim SS, et al. Pathology, 2010 Jan. PMID 20025480
    2. Nuciferine blocks MIB2-mediated CARD6 polyubiquitination and degradation in the amelioration of high fructose-induced liver lipid accumulation. Li F, et al. Food Funct, 2023 May 22. PMID 37186242
    3. CARD tricks: controlling the interactions of CARD6 with RICK and microtubules. Dufner A, et al. Cell Cycle, 2006 Apr. PMID 16582588
    4. Exosome-transmitted circ-CARD6 facilitates posterior capsule opacification development by miR-31/FGF7 axis. Liu Y, et al. Exp Eye Res, 2021 Jun. PMID 33844960
    5. Caspase Recruitment Domain Protein 6 Protects Against Hepatic Steatosis and Insulin Resistance by Suppressing Apoptosis Signal-Regulating Kinase 1. Sun P, et al. Hepatology, 2018 Dec. PMID 29729191

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exosome-transmitted circ-CARD6 facilitates posterior capsule opacification development by miR-31/FGF7 axis.
      Title: Exosome-transmitted circ-CARD6 facilitates posterior capsule opacification development by miR-31/FGF7 axis.
    2. expression markedly reduced in nonalcoholic fatty liver disease livers
      Title: Caspase Recruitment Domain Protein 6 Protects Against Hepatic Steatosis and Insulin Resistance by Suppressing Apoptosis Signal-Regulating Kinase 1.
    3. Data show that NOD-like receptor signaling genes NOD2, PYCARD, CARD6, and IFI16 are upregulated in psoriatic epidermis.
      Title: NOD-like receptor signaling and inflammasome-related pathways are highlighted in psoriatic epidermis.
    4. The increased expression of CARD6 in esophageal squamous cell carcinoma,gastric and colorectal adenocarcinoma suggested that neoexpression of CARD6 might be related to activation of NF-kappaB pathway.
      Title: Expression of CARD6, an NF-kappaB activator, in gastric, colorectal and oesophageal cancers.
    5. identification as a modulator of NF-kappa B activation by Nod1- and Cardiak-mediated pathways
      Title: CARD6 is a modulator of NF-kappa B activation by Nod1- and Cardiak-mediated pathways.
    6. CARD6 is a regulator of NF-kappaB activation that modulates the functions of RICK protein
      Title: Caspase recruitment domain protein 6 is a microtubule-interacting protein that positively modulates NF-kappaB activation.
    7. review of the regulation of interactions of CARD6 with RICK and microtubules [review]
      Title: CARD tricks: controlling the interactions of CARD6 with RICK and microtubules.
    Submit: New GeneRIF Correction

    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    caspase recruitment domain-containing protein 6
    Names
    CARD-containing inhibitor of Nod1 and Cardiak-induced NF-kB activation
    caspase recruitment domain protein 6

    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.

    mRNA and Protein(s)

    1. NM_032587.4 → NP_115976.2  caspase recruitment domain-containing protein 6

      See identical proteins and their annotated locations for NP_115976.2

      Status: REVIEWED

      Source sequence(s)
      AC026732, BC093825
      Consensus CDS
      CCDS3935.1
      UniProtKB/Swiss-Prot
      Q52LR2, Q9BX69
      UniProtKB/TrEMBL
      Q59EG7
      Related
      ENSP00000254691.5, ENST00000254691.10
      Conserved Domains (2) summary
      pfam00619
      Location:9 → 92
      CARD; Caspase recruitment domain
      pfam11035
      Location:961 → 1025
      SnAPC_2_like; Small nuclear RNA activating complex subunit 2, SNAP190 Myb

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      40841367..40855354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009989.2 → XP_016865478.1  caspase recruitment domain-containing protein 6 isoform X1

    2. XM_047417836.1 → XP_047273792.1  caspase recruitment domain-containing protein 6 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      41097788..41111778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353703.1 → XP_054209678.1  caspase recruitment domain-containing protein 6 isoform X1

    2. XM_054353704.1 → XP_054209679.1  caspase recruitment domain-containing protein 6 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BX69.2 GenPept UniProtKB/Swiss-Prot:Q9BX69

    Gene LinkOut

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