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FLASH GENE

Symbol

C8B

contributors: mct - updated : 11-01-2012

HGNC name	complement component 8, beta polypeptide
HGNC id	1353

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	C8B complement component 8B deficiency
Location	1p32.2      Physical location : 57.394.884 - 57.431.688
Synonym name	complement component C8 beta chain

DNA

TYPE	functioning gene
STRUCTURE	36.81 kb     12 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

text structure

a perforin domain and a LDL receptor domain,class A and two thrombospondin, type I domains

MAPPING

cloned

Y

linked

Y

status

provisional

regionally located

<2.5kb, 3' from C8A

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000066 12 - 2053 - 591 - 1996 8792819

EXPRESSION

Type

widely

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       highly Nervous nerve cranial nerve

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal TSP1 modules of C8A and C8B form three-stranded antiparallel domains that are similar to one another and to homologous modules found in other proteins
	a perforin domain
	a LDL receptor class A and two thrombospondin type I
	a EGF-like domain
	1 MACPF domain, that likewise can bind C8A-C8G and express C8 activity

conjugated

GlycoP

mono polymer

heteromer , trimer

isoforms

Precursor

HOMOLOGY

interspecies

ortholog to murine C8b

intraspecies

paralog to C8A

Homologene

FAMILY

MAC family of proteins (membrane attack complex of complement)

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION

faciliting interaction of C8a with target membranes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component	the principal binding site for C9 lies within the MACPF domain of C8alpha
	C8 contains three genetically distinct subunits (C8 alpha, C8 beta, C8 gamma) arranged as a disulfide-linked C8 alpha-gamma dimer that is noncovalently associated with C8 beta
	this site and the binding sites for C8beta and C8gamma are distinct
	C8 is composed of three genetically distinct subunits, C8A, C8B, and C8G

INTERACTION

DNA

RNA

small molecule

protein

cell & other

cell surface

REGULATION

inhibited by

CD59

ASSOCIATED DISORDERS

corresponding disease(s)

C8B

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS