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FLASH GENE

Symbol

C2

contributors: npt/ - updated : 27-07-2006

HGNC name	complement component 2
HGNC id	1248

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	C2 complement component 2 deficiency
Location	6p21.3      Physical location : 3.154.357 - 31.913.448
Synonym name	C3/C5 convertase
Synonym symbol(s)	CO2, DKFZp779M0311
EC.number	3.4.21.43

DNA

TYPE	functioning gene
STRUCTURE	18.13 kb     18 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000063 18 - 2867 NP_000054 - 752 - - NM_001178063 - - 2016 NP_001171534 - 538 - - NM_001145903 - - 2471 NP_001139375 - 620 - -

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       highly Lymphoid/Immune spleen       highly   thymus

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one von Willibrand factor domain complement control protein domains
	three short consensus repeats, sushi structure (see F13B, SRCP1)

isoforms

Precursor

cleaved into C2a and C2b forms

HOMOLOGY

interspecies

homolog to murine C2

Homologene

FAMILY	serine protease/trypsin family
	peptidase S1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION

part of the classical pathway of the complement system cleaved by activated factor C1 into two fragments : C2B and C2A

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

C2A combining with C4B to form the C3/C5 convertase complex

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

the active C1s to form C2a and C2b

Other

combining with C4A and C4B to form C3/C5 convertase

ASSOCIATED DISORDERS

corresponding disease(s)

C2

related resource

C2base - Mutation registry for C2 deficiency

Susceptibility

to age related macular dystrophy

Variant & Polymorphism other	variant E318D associated to variant L9H of CFB protecting against age related macular dystrophy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS