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FLASH GENE

Symbol

CARD14

contributors: mct - updated : 16-06-2021

HGNC name	caspase recruitment domain family, member 14
HGNC id	16446

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     predominantly Reproductive female system placenta     moderately Homo sapiens Respiratory respiratory tract larynx     highly Skin/Tegument skin       specific Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis stratum granulosum   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal CARD domain
	a central coiled-coil domain, important in regulating inflammation
	a SH3 and GuK domains
	a C terminal tripartite domain (TRIM) comprised of a PDZ domain, SH3 homology domain and a MAGUK domains

HOMOLOGY

interspecies

ortholog to murine Card14

intraspecies

homolog to CARD11

Homologene

FAMILY	membrane-associated guanylate kinase (MAGUK) family, caspase recruitment domain family
	Caspase recruitment domain (CARD)-containing proteins family (CARMA)

CATEGORY

signaling

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	acting as an activator of NFKB via BCL10 and IKK
	stimulating the phosphorylation of BCL10
	leading to NFKB activation
	acting as a positive regulator of cell apoptosis
	regulator of skin inflammation
	mediates potentially an important conserved pathway that is triggered in response to disrupted homeostasis (due to injury, infection, etc.) of the skin
	regulates NF-KB signaling
	intracellular scaffold protein that regulates proinflammatory gene expression
	CARD14/CARMA2 mediates induction of inflammatory response in keratinocytes

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

involved in NFKB signaling complexes

a component

INTERACTION

DNA

RNA

small molecule

protein	BCL10, by CARD-CARD interaction
	novel role for MALT1 in CARD14-induced signaling
	RNF7 functions as a negative regulator of the NFKB1-activating capacity of CARD14
	CARD14 recruits BCL10 and MALT1 to form the CARD-BCL10-MALT1 complex, which modulates NFKB1 and MAPK signalling pathway
	UBAC1 participates in the inflammatory signal transduction pathways involving CARMA2sh

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PRP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       gain of function after a triggering event that can include epidermal injury, rare gain-of-function mutations in CARD14 initiate a process that includes inflammatory cell recruitment by keratinocytes, a cycle which is the hallmark of psoriasis constitutional germinal mutation     loss of function associated with a severe variant of Atopic dermatitis (AD)

Susceptibility

to Psoriasis (see PSORS2) to inflammatory skin disease to CARD14-associated papulosquamous eruption

Variant & Polymorphism other	rs11652075 (p.Arg820Trp), and c.599G>A (p.Ser200Asn) were associated with psoriasis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS