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FLASH GENE

Symbol

C9

contributors: mct - updated : 08-03-2008

HGNC name	complement component 9
HGNC id	1358

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	C9 complement component 9 deficiency
Location	5p13      Physical location : 39.284.378 - 39.364.655
Synonym name	complement component 9,alpha-2 globulin 4.S

DNA

TYPE	functioning gene
STRUCTURE	79.00 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
motif	repetitive sequence   other
text structure	four SNP and three polyadenylation signal

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 11 - 2094 - 559 - Kabut (2007)

EXPRESSION

Type	restricted

constitutive of

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 liver

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a perforin domain
	a LDL receptor domain class A
	one thrombospondin type I and one EGF-like domain

HOMOLOGY

intraspecies

homolog to perforin,highly

Homologene

FAMILY

complement C6/C7/C8/C9 family

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION

forming with other components of the membrane attack complex a large and stable transmembrane channel leading to accelerated lysis of target cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component

component with C5b, C6, C7, C8 of the late complement complex forming the membrane attack complex

INTERACTION

DNA

RNA

small molecule

protein

bindingto C8A (role of the N-terminal modules in the C8 alpha subunit)

cell & other

cell surface

REGULATION

activated by

cleaved by thrombin

inhibited by

CD59

ASSOCIATED DISORDERS

corresponding disease(s)

C9

related resource

C9base - Mutation registry for C9 deficiency

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS