C2 - complement C2 Gene

Also Known as CO2; ARMD14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 717

About C2

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,897,783-31,945,672 (from NCBI)

This gene has 24 transcripts (splice variants), 1 gene allele, 85 orthologues, 39 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 95.8), lung (RPKM 36.7) and 11 other tissues.

Summary

Component C2 is a serum glycoprotein that functions as part of the classical pathway of the Complement System. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]

C2 Products (6)

mRNA Protein Name
NM_000063.6 NP_000054.2 complement C2 isoform 1 preproprotein
NM_001145903.3 NP_001139375.1 complement C2 isoform 2 precursor
NM_001178063.3 NP_001171534.1 complement C2 isoform 3
NM_001282457.2 NP_001269386.1 complement C2 isoform 4
NM_001282458.2 NP_001269387.1 complement C2 isoform 5
NM_001282459.2 NP_001269388.1 complement C2 isoform 6 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25910212 GOA
Biological Process GO Annotation Evidence References Source
involved in complement activation IMP
IMP: Inferred from mutant phenotype
19302245 GOA
involved in positive regulation of apoptotic cell clearance IMP
IMP: Inferred from mutant phenotype
19302245 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C2 Protein Structure

Sushi

Sushi: Sushi repeat (SCR repeat) (89 - 144)

Sushi

Sushi: Sushi repeat (SCR repeat) (151 - 204)

VWA

VWA: von Willebrand factor type A domain (254 - 452)

Trypsin

Trypsin: Trypsin (473 - 703)

  • 0
  • 200
  • 400
  • 600
  • 752 a.a.
Protein Preferred Names Protein Names

complement C2

  • C3/C5 convertase

C2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
C2 P06681 STOM Homo sapiens P27105 32296183
Intra
C2 P06681 STOM Homo sapiens P27105 32296183
Intra
C2 P06681 STOM Homo sapiens P27105 32296183
Intra
C2 P06681 MUC1 Homo sapiens P15941-11 32296183
Intra
C2 P06681 MUC1 Homo sapiens P15941-11 32296183
Intra
C2 P06681 MUC1 Homo sapiens P15941-11 32296183
Intra
C2 P06681 SLC35C2 Homo sapiens Q9NQQ7-3 32296183
Intra
C2 P06681 SLC35C2 Homo sapiens Q9NQQ7-3 32296183
Intra
C2 P06681 SLC35C2 Homo sapiens Q9NQQ7-3 32296183
Intra
C2 P06681 FAM209A Homo sapiens Q5JX71 32296183
Intra
C2 P06681 FAM209A Homo sapiens Q5JX71 32296183
Intra
C2 P06681 FAM209A Homo sapiens Q5JX71 32296183
Intra
C2 P06681 SEC11C Homo sapiens Q9BY50 32296183
Intra
C2 P06681 SEC11C Homo sapiens Q9BY50 32296183
Intra
C2 P06681 SEC11C Homo sapiens Q9BY50 32296183
Intra
C2 P06681 EBP Homo sapiens Q15125 32296183
Intra
C2 P06681 EBP Homo sapiens Q15125 32296183
Intra
C2 P06681 EBP Homo sapiens Q15125 32296183
Intra
C2 P06681 SLC10A1 Homo sapiens Q14973 32296183
Intra
C2 P06681 SLC10A1 Homo sapiens Q14973 32296183
Intra
C2 P06681 SLC10A1 Homo sapiens Q14973 32296183
Intra
C2 P06681 CREB3 Homo sapiens O43889-2 25910212
Intra
C2 P06681 CREB3 Homo sapiens O43889-2 25910212
Intra
C2 P06681 CREB3 Homo sapiens O43889-2 25910212
Intra
C2 P06681 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
C2 P06681 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
C2 P06681 ERGIC3 Homo sapiens Q9Y282 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant C2 Proteins

Cat. No. Product Name Accession Purity
HY-P74375 C2/Complement C2 Protein, Human (HEK293, His) P06681 (A21-L752) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P74376 C2/Complement C2 Protein, Human (HEK293, Fc) P06681 (A21-L752) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Complement Component 2 Deficiency
  • C2D

  • C2 Deficiency

  • Complement 2 Deficiency

  • Complement Component-2

Macular Degeneration, Age-Related, 14
  • Age Related Macular Degeneration 14

  • ARMD14

  • Macular Degeneration, Age-Related, 14, Reduced Risk Of

  • Macular Degeneration, Age-Related, Type 14

Immunodeficiency Due To A Classical Component Pathway Complement Deficiency
  • Immunodeficiency Due To C1, C4, Or C2 Component Complement Deficiency

  • Immunodeficiency Due To An Early Component Of Complement Deficiency

Retinal Drusen
Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Lupus Erythematosus
  • Lupus

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus, Systemic

  • Subacute Cutaneous Lupus

  • Le - [Lupus Erythematosus]

Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Systemic Lupus Erythematosus
  • Lupus Nephritis

  • SLE

  • Disseminated Lupus Erythematosus

  • Systemic Lupus Erythematosus, Susceptibility To

  • Lupus Erythematosus, Systemic

  • Lupus Nephritis, Susceptibility To

  • Libman-Sacks Disease

  • Systemic Lupus Erythematosus Susceptibility To

  • Sle - Lupus Erythematosus, Systemic

  • Le Syndrome

  • Lupus

  • Lupus Erythematosus Systemic

  • Lupus Erythematosus, Systemic, Susceptibility To

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus

  • Systemic Lupus Erythematosus Nos

  • Sle - [Systemic Lupus Erythematosus]

Degeneration Of Macula And Posterior Pole
  • Degeneration Of Macula And Posterior Pole Of Retina

  • Degeneration Of Macula Or Posterior Pole

  • Macular Degeneration Nos

  • Degenerative Disorder Of Macula

  • Drusen Macular Degeneration

  • Posterior Pole Macular Degeneration Of Eye

  • Macular Eye Degeneration

  • Macular Degeneration Of Retina, Unspecified

  • Pseudohole Degeneration Of Macula Of Retina

Hemolytic Uremic Syndrome, Atypical 1
  • Atypical Hemolytic-Uremic Syndrome

  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

  • Atypical Hemolytic Uremic Syndrome

  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To

  • Ahus

  • AHUS1

  • Hemolytic-Uremic Syndrome

  • Ahus 1

  • Ahus, Susceptibility To, 1

  • Hemolytic Uremic Syndrome, Atypical

  • Non-Shiga-Like Toxin-Associated Hus

  • Non-Stx-Hus

  • Nonenteropathic Hus

  • Atypical Hus

  • Shiga Toxin-Associated Hemolytic Uremic Syndrome

  • D+ Hus

  • Ehec-Hus

  • Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

  • Hemolytic Uremic Syndrome With Diarrhea

  • Stec-Hus

  • Shiga-Like Toxin-Associated Hus

  • Stx-Hus

  • Typical Hus

  • Typical Hemolytic Uremic Syndrome

  • Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

  • Atypical Hus With Anti-Factor H Antibodies

  • Ahus With Anti-Factor H Antibodies

  • Ahus With Neutralizing Autoantibodies Against Factor H

  • Hemolytic Uremic Syndrome Atypical 1

  • Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

  • D Hus

  • Hemolytic-Uremic Syndrome Without Diarrhea

  • Hemolytic-Uremic Syndrome, Atypical, Type 1

  • Hemolytic Uremic Syndrome, Typical

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus C2 VGNC VGNC:102387
Bos taurus C2 VGNC VGNC:53959
Mus musculus C2 MGD MGI:88226
Canis familiaris C2 VGNC VGNC:103663
Rattus norvegicus C2 RGD RGD:2231
Others C2 NCBI