Gene: CARD14

Alternate names for this Gene: BIMP2|CARMA2|PRP|PSORS2|PSS1

Gene Summary: This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: caspase recruitment domain family member 14

Type of Gene: protein-coding

rs9902358 in CARD14 gene and Moyamoya Disease PMID 29273593 2018 Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.

rs9902358 in CARD14 gene and Moyamoya disease 1 PMID 29273593 2018 Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.

rs146214639 in CARD14 gene and PSORIASIS 2 PMID 22521419 2012 Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

PMID 26358359 2016 CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts.

PMID 27071417 2016 Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-κB activation.

PMID 22521418 2012 PSORS2 is due to mutations in CARD14.

PMID 27113748 2016 The paracaspase MALT1 mediates CARD14-induced signaling in keratinocytes.

rs281875215 in CARD14 gene and Pityriasis Rubra Pilaris PMID 27760266 2017 Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations.

PMID 22703878 2012 Familial pityriasis rubra pilaris is caused by mutations in CARD14.