CARD14

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Caspase recruitment domain family, member 14
Identifiers
Symbols CARD14 ; BIMP2; CARMA2; PRP; PSORS2; PSS1
External IDs OMIM607211 MGI2386258 HomoloGene11469 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:
78.14 – 78.18 Mb
Chr 11:
119.31 – 119.35 Mb
PubMed search [1] [2]

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[edit]

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[edit]

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[edit]

  1. ^ a b "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[edit]

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