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FLASH GENE

Symbol

C4B

contributors: - updated : 15-01-2007

HGNC name	complement component 4B (Childo blood group)
HGNC id	1324

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	C4B complement component 4B deficiency
Location	6p21.3      Physical location : 3.235.414 - 32.003.194
Synonym name	CHIDO blood group
	complement component 4B
Synonym symbol(s)	XXbac-BPG116M5.7, C4A, C4A13, C4A91, C4B1, C4B12, C4B2, C4B3, C4B5, C4F, CH, CO4, CPAMD3

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	including the ZB transcript in the same orientation
STRUCTURE	20.00 kb     41 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map

see TNXB

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed long form - - - - - - - including HERV-K retrovirus in intron 9 short form - - -

EXPRESSION

Type

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       highly   salivary gland       predominantly Nervous nerve

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES		basic
STRUCTURE

motifs/domains	a N terminal alpha 2 macroglobulin domain
	an anaphylotoxin like domain
	a netrin C terminal domain

conjugated

GlycoP

mono polymer

trimer

isoforms

Precursor

proteolytically cleaved into alpha, beta, gamma chains before secretion

HOMOLOGY

interspecies

ortholog to rattus C4a

Homologene

FAMILY

CATEGORY

immunity/defense , antigen

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	C4 anaphylotoxin, local mediator of inflammation
	classical pathway of C3 activation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense , inflammation

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

binding the immune complex at the cell surface

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

C4B

Susceptibility

to systemic lupus erythematosus (SLE)

Variant & Polymorphism SNP	increasing the risk of systemic lupus erythematosus (SLE)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS