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

Gene ID: 84674, updated on 6-Oct-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
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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 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. CARD tricks: controlling the interactions of CARD6 with RICK and microtubules. Dufner A, et al. Cell Cycle, 2006 Apr. PMID 16582588
  3. 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
  4. 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
  5. NOD-like receptor signaling and inflammasome-related pathways are highlighted in psoriatic epidermis. Tervaniemi MH, et al. Sci Rep, 2016 Mar 15. PMID 26976200, Free PMC Article

See all (11) 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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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)

Genotypes

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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