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 2 "Entrez Gene: caspase recruitment domain family".
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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
- Oguri M, Kato K, Yokoi K; et al. (2010). "Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.". Am. J. Hypertens. 23 (1): 70–7. doi:10.1038/ajh.2009.190. PMID 19851296.
- Davila S, Froeling FE, Tan A; et al. (2010). "New genetic associations detected in a host response study to hepatitis B vaccine.". Genes Immun. 11 (3): 232–8. doi:10.1038/gene.2010.1. PMID 20237496.
- Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Wang L, Guo Y, Huang WJ; et al. (2001). "Card10 is a novel caspase recruitment domain/membrane-associated guanylate kinase family member that interacts with BCL10 and activates NF-kappa B.". J. Biol. Chem. 276 (24): 21405–9. doi:10.1074/jbc.M102488200. PMID 11259443.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Yoshida T, Kato K, Yokoi K; et al. (2010). "Association of genetic variants with hemorrhagic stroke in Japanese individuals.". Int. J. Mol. Med. 25 (4): 649–56. doi:10.3892/ijmm_00000388. PMID 20198315.
- Barbe L, Lundberg E, Oksvold P; et al. (2008). "Toward a confocal subcellular atlas of the human proteome.". Mol. Cell Proteomics 7 (3): 499–508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.