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Genetics Home Reference: your guide to understanding genetic conditions
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CARD14

Reviewed March 2013

What is the official name of the CARD14 gene?

The official name of this gene is “caspase recruitment domain family, member 14.”

CARD14 is the gene's official symbol. The CARD14 gene is also known by other names, listed below.

What is the normal function of the CARD14 gene?

The CARD14 gene provides instructions for making a protein that turns on (activates) a group of interacting proteins known as nuclear factor-kappa-B (NF-κB). The NF-κB protein complex regulates the activity of multiple genes, including genes that control the body's immune responses and inflammatory reactions. It also protects cells from certain signals that would otherwise cause them to self-destruct (undergo apoptosis).

The CARD14 protein is found in many of the body's tissues, but it is particularly abundant in the skin. NF-κB signaling appears to play important roles in regulating inflammatory reactions in the skin and in promoting the survival of skin cells.

How are changes in the CARD14 gene related to health conditions?

familial pityriasis rubra pilaris - caused by mutations in the CARD14 gene

At least three mutations in the CARD14 gene have been identified in people with familial pityriasis rubra pilaris, a rare hereditary skin condition. These mutations lead to overactivation of NF-κB signaling, which triggers an abnormal inflammatory response in the skin. Researchers are working to determine how these changes lead to the specific features of familial pityriasis rubra pilaris.

other disorders - increased risk from variations of the CARD14 gene

Changes in the CARD14 gene may also contribute to a common inflammatory skin disorder called psoriasis. At least two mutations have been identified in families with psoriasis or psoriatic arthritis (a similar condition characterized by both skin and joint inflammation). Several other rare variants of the CARD14 gene have been associated with an increased risk of psoriasis in people without a family history of the disorder. Studies suggest that these genetic changes may enhance activation of NF-κB, increasing the activity of genes involved in the body's inflammatory response. The resulting abnormal inflammation is a characteristic feature of psoriasis and psoriatic arthritis. However, CARD14 gene mutations appear to be an uncommon risk factor for these complex conditions, which likely result from a combination of genetic and environmental factors.

Where is the CARD14 gene located?

Cytogenetic Location: 17q25

Molecular Location on chromosome 17: base pairs 80,169,991 to 80,209,330

The CARD14 gene is located on the long (q) arm of chromosome 17 at position 25.

The CARD14 gene is located on the long (q) arm of chromosome 17 at position 25.

More precisely, the CARD14 gene is located from base pair 80,169,991 to base pair 80,209,330 on chromosome 17.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about CARD14?

You and your healthcare professional may find the following resources about CARD14 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CARD14 gene or gene products?

  • bcl10-interacting maguk protein 2
  • BIMP2
  • CAR14_HUMAN
  • CARD-containing MAGUK protein 2
  • card-maguk protein 2
  • CARMA2
  • carma 2
  • caspase recruitment domain-containing protein 14
  • PRP
  • PSORS2
  • PSS1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CARD14?

apoptosis ; arthritis ; caspase ; domain ; familial ; family history ; gene ; hereditary ; inflammation ; joint ; joint inflammation ; kinase ; protein ; psoriasis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bertin J, Wang L, Guo Y, Jacobson MD, Poyet JL, Srinivasula SM, Merriam S, DiStefano PS, Alnemri ES. 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. 2001 Apr 13;276(15):11877-82. Epub 2001 Jan 12. (http://www.ncbi.nlm.nih.gov/pubmed/11278692?dopt=Abstract)
  • Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E. Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet. 2012 Jul 13;91(1):163-70. doi: 10.1016/j.ajhg.2012.05.010. Epub 2012 Jun 14. (http://www.ncbi.nlm.nih.gov/pubmed/22703878?dopt=Abstract)
  • Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA, Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG, Gladman D, Elder JT, Menter A, Bowcock AM. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet. 2012 May 4;90(5):796-808. doi: 10.1016/j.ajhg.2012.03.013. Epub 2012 Apr 19. (http://www.ncbi.nlm.nih.gov/pubmed/22521419?dopt=Abstract)
  • Jordan CT, Cao L, Roberson ED, Pierson KC, Yang CF, Joyce CE, Ryan C, Duan S, Helms CA, Liu Y, Chen Y, McBride AA, Hwu WL, Wu JY, Chen YT, Menter A, Goldbach-Mansky R, Lowes MA, Bowcock AM. PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012 May 4;90(5):784-95. doi: 10.1016/j.ajhg.2012.03.012. Epub 2012 Apr 19. (http://www.ncbi.nlm.nih.gov/pubmed/22521418?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/79092)
  • Scudiero I, Zotti T, Ferravante A, Vessichelli M, Vito P, Stilo R. Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-κB activation and endoplasmic reticulum stress-induced cell death. J Cell Physiol. 2011 Dec;226(12):3121-31. doi: 10.1002/jcp.22667. (http://www.ncbi.nlm.nih.gov/pubmed/21302310?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2013
Published: December 16, 2014