CARD14

Caspase recruitment domain-containing protein 14, also known as D-containing MAGUK protein 2 (Carma 2), is a protein in the CARD-CC protein family that in humans is encoded by the CARD14 gene.^[5][6][7]

CARD14
Identifiers
Aliases	CARD14, BIMP2, CARMA2, PRP, PSORS2, PSS1, caspase recruitment domain family member 14
External IDs	OMIM: 607211; MGI: 2386258; HomoloGene: 11469; GeneCards: CARD14; OMA:CARD14 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 80,169,992 bp[1] End 80,209,331 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 119,198,594 bp[2] End 119,236,201 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of leg skin of abdomen oral cavity endothelial cell testicle vagina skin of arm skin of thigh mucosa of pharynx minor salivary glands Top expressed in yolk sac lip morula transitional epithelium of urinary bladder ileum esophagus gastrula ankle lobe of prostate jejunum More reference expression data BioGPS n/a
Gene ontology Molecular function CARD domain binding Cellular component cytoplasm plasma membrane Biological process regulation of apoptotic process positive regulation of protein phosphorylation negative regulation of apoptotic process tumor necrosis factor-mediated signaling pathway activation of NF-kappaB-inducing kinase activity positive regulation of NF-kappaB transcription factor activity apoptotic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79092 170720 Ensembl ENSG00000141527 ENSMUSG00000013483 UniProt Q9BXL6 Q99KF0 RefSeq (mRNA) NM_001257970 NM_024110 NM_052819 NM_001366385 NM_130886 RefSeq (protein) NP_001244899 NP_077015 NP_438170 NP_001353314 NP_570956 Location (UCSC) Chr 17: 80.17 – 80.21 Mb Chr 11: 119.2 – 119.24 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD-CC protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD) and a coiled-coil (CC) domain. This protein thus shares a similar domain structure with the CARD10 and CARD11 proteins. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of NF-κB activation. The homotypic interaction with BCL10 is believed to be prevented by the linker region of CARD14, when in an inactive state.^[8] CARD14 overexpression leads to an activation of the transcription factor NF-κB and phosphorylation of BCL10. CARD14 has been shown to form a CBM signalosome, similar to the signalling of CARD11, with BCL10 and MALT1.^[5][8]

Link to Psoriasis

The CARD14 gene was recently identified as the first gene directly linked to the most common form of Psoriasis. It has been suggested that a mutation in the gene plus an environmental trigger were enough to elicit plaque psoriasis.^[9][10] These rare, but highly penetrant, mutations were found to disrupt an auto-inhibited state of CARD14, which leads to the binding of BCL10 and the activation of NF-κB.^[8]