C2 complement C2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: C2provided by MGI
Official Full Name: complement C2provided by MGI
Primary source: MGI:MGI:88226
See related: Ensembl:ENSMUSG00000024371 AllianceGenome:MGI:88226
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes component C2 of the classical pathway of the complement system. The encoded protein undergoes proteolytic processing mediated by component C1 resulting in C2a and C2b fragments. C2a fragment, in turn, selectively cleaves components C3 and C5 of the complement system. Mice lacking the encoded protein are found to be more susceptible to bacterial infections. Mutations in the human homolog of this gene are associated with disorders such as systemic lupus erythematosus, Henoch-Schonlein purpura, or polymyositis. [provided by RefSeq, Mar 2015]
Expression: Broad expression in adrenal adult (RPKM 31.9), liver adult (RPKM 28.9) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 18.41 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (35081578..35101076, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (34862602..34882100, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data indicate that activation of C5 in experimental cerebral malaria likely occurs via coagulation enzymes of the extrinsic protease pathway.
Title: The C5 convertase is not required for activation of the terminal complement pathway in murine experimental cerebral malaria.
Bacterial titers of both Streptococcus pneumoniae serotype 6A and 14 in the middle ear lavage fluid samples from Bf/C2(-/)(-), Bf(-)(/)(-), and C1qa(-/)(-) mice were significantly higher than in samples from wild-type mice.
Title: Enhanced susceptibility to acute pneumococcal otitis media in mice deficient in complement C1qa, factor B, and factor B/C2.
The more pronounced lack of complement activation in Bf/C2-/- mice leads to uncontrolled infection due to an opsonophagocytic defect
Title: Increased susceptibility of complement factor B/C2 double knockout mice and mannan-binding lectin knockout mice to systemic infection with Candida albicans.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)

General gene information

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Markers

C2 (e-PCR), detects polymorphism
- UniSTS:257036

M57891 (e-PCR)
- UniSTS:160651

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation	ISO Inferred from Sequence Orthology more info
involved_in complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic cell clearance	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic cell clearance	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to thyroid hormone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular space	HDA more info	PubMed

General protein information

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Preferred Names: complement C2

Names: MHC complement component C2; classical-complement pathway C3/C5 convertase; complement component 2 (within H-2S); complement component C2; complement factor C2

NP_038512.2

EC 3.4.21.43

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_013484.3 → NP_038512.2 complement C2 preproprotein

See identical proteins and their annotated locations for NP_038512.2

Status: REVIEWED

Source sequence(s)

CT025759, CT573030

Consensus CDS

CCDS28664.1

UniProtKB/Swiss-Prot

O70350, P21180

UniProtKB/TrEMBL

B8JJN2

Related

ENSMUSP00000025230.9, ENSMUST00000025230.15

Conserved Domains (5) summary

cd00033
Location:94 → 149

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

smart00020
Location:480 → 721

Tryp_SPc; Trypsin-like serine protease

smart00032
Location:156 → 210

CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

cd00190
Location:480 → 750

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

cl00057
Location:260 → 457

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...