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FLASH GENE

Symbol

CARD9

contributors: mct/ - updated : 16-12-2009

HGNC name	caspase recruitment domain family, member 9
HGNC id	16391

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CANDF2 familial chronic mucocutaneous candidiasis 2
Location	9q34.3      Physical location : 139.258.407 - 139.268.133
Synonym name	caspase recruitment domain protein 9

DNA

TYPE	functioning gene
STRUCTURE	9.73 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_052813 13 - 2147 NP_434700 62.1 536 - 2008 PMID: 184395 NM_052814 13 splicing 1852 NP_434701 56.5 492 - 2008 PMID: 184395 an unique 11 AAs C terminus NM_022352 - splicing 2174 NP_071747 42.8 366 - 2000 PMID: 110534 an unique 7 aa C terminus

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 esophagus       highly   salivary gland       moderately Lymphoid/Immune spleen       highly Nervous brain         Reproductive male system prostate     moderately Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a CARD domain

secondary structure

six or seven antiparallel alpha helices in the CARD domain

HOMOLOGY

interspecies	ortholog to rattus Card9
	ortholog to murine Card9

Homologene

FAMILY

caspase recruitment domain (CARD) family

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	activator of BCL10 leading to NFKB activation
	acting as a postive regulator of apoptosis
	thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB
	is a key transducer of Dectin-1 signaling (controlling a non-TLR pathway for innate anti-fungal immunity)
	required for innate immune responses to intracellular pathogens
	required for Toll-like receptor-induced activation of dendritic cells through the activation of mitogen-activated protein kinases
	adaptor protein essential for the activation of myeloid cells through ITAM-associated and Toll-like receptors

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

signal transduction

NFKB signaling

a component

CARD9-BCL10-MALT1 pathway activated by SYK

INTERACTION

DNA

RNA

small molecule

protein

BCL10 (CARD domain)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CANDF2

Susceptibility

to Crohn's disease and ulcerative colitis

Variant & Polymorphism SNP	increasing the risk of Crohn's disease and ulcerative colitis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS