CARD14

Caspase recruitment domain family, member 14
Identifiers
Symbols CARD14 ; BIMP2; CARMA2; PRP; PSORS2; PSS1
External IDs OMIM: 607211 MGI: 2386258 HomoloGene: 11469 GeneCards: CARD14 Gene
Orthologs
Species Human Mouse
Entrez 79092 170720
Ensembl ENSG00000141527 ENSMUSG00000013483
UniProt Q9BXL6 Q99KF0
RefSeq (mRNA) NM_001257970 NM_130886
RefSeq (protein) NP_001244899 NP_570956
Location (UCSC) Chr 17:
80.17 – 80.21 Mb
Chr 11:
119.31 – 119.35 Mb
PubMed search

Caspase recruitment domain-containing protein 14, also known as CARD-containing MAGUK protein 2 (Carma 2), is a protein that in humans is encoded by the CARD14 gene.[1][2][3]

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 protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein shares a similar domain structure with CARD11 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-κB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10.[1]

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.[4][5]

References

  1. 1 2 "Entrez Gene: caspase recruitment domain family".
  2. Bertin J, Wang L, Guo Y, Jacobson MD, Poyet JL, Srinivasula SM, Merriam S, DiStefano PS, Alnemri ES (April 2001). "CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B". J. Biol. Chem. 276 (15): 11877–82. doi:10.1074/jbc.M010512200. PMID 11278692.
  3. Gaide O, Martinon F, Micheau O, Bonnet D, Thome M, Tschopp J (May 2001). "Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation". FEBS Lett. 496 (2-3): 121–7. doi:10.1016/S0014-5793(01)02414-0. PMID 11356195.
  4. Jordan CT, Cao L, Roberson EDO et al.. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. The American Journal of Human Genetics. April 19 2012. doi:10.1016/j.ajhg.2012.03.013.
  5. Jordan CT, Cao L, Roberson EDO et al.. PSORS2 is due to mutations in CARD14. The American Journal of Human Genetics. April 19 2012. doi:10.1016/j.ajhg.2012.03.012.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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