C3 (complement C3)

2003-08-01  

Identity

HGNC
C3
LOCATION
19p13.3
LOCUSID
718
ALIAS
AHUS5,ARMD9,ASP,C3a,C3b,CPAMD1,HEL-S-62p
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 718
MIM: 120700
HGNC: 1318
Ensembl: ENSG00000125730

Variants:

dbSNP: 718
ClinVar: 718
TCGA: ENSG00000125730
COSMIC: C3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125730ENST00000245907P01024
ENSG00000125730ENST00000245907V9HWA9
ENSG00000125730ENST00000596548M0QYC8
ENSG00000125730ENST00000600744M0R1Q1
ENSG00000125730ENST00000601008M0R0Q9
ENSG00000125730ENST00000602229M0QXZ3

Expression (GTEx)

0
500
1000
1500
2000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Systemic lupus erythematosusKEGGko05322
Complement and coagulation cascadesKEGGhsa04610
Systemic lupus erythematosusKEGGhsa05322
LeishmaniasisKEGGko05140
LeishmaniasisKEGGhsa05140
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
PertussisKEGGko05133
PertussisKEGGhsa05133
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
LegionellosisKEGGko05134
LegionellosisKEGGhsa05134
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellREACTOMER-HSA-198933
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663
Alternative complement activationREACTOMER-HSA-173736
Activation of C3 and C5REACTOMER-HSA-174577
Regulation of Complement cascadeREACTOMER-HSA-977606
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162370415Metabolic SyndromeDiseaseClinicalAnnotationassociatedPD26503818
PA449061clozapineChemicalClinicalAnnotationassociatedPD26503818

References

Pubmed IDYearTitleCitations
377957812024Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome.1
379265092024Complement C3 as a potential drug target in periodontitis: Evidence from the cis-Mendelian randomization approach.1
382517162024HylS', a fragment of truncated hyaluronidase of Streptococcus suis, contributes to immune evasion by interaction with host complement factor C3b.0
382557872024Serum Uric Acid Associates with Systemic Complement C3 Activation in Severe ANCA-Associated Renal Vasculitides.0
383105402024Increased expression of complement C3c, iC3b, and cells containing CD11b or CD14 in experimentally induced psoriatic lesion.0
384113152024Subsequent correlated changes in complement component 3 and amyloid beta oligomers in the blood of patients with Alzheimer's disease.1
387956842024Complement decay-accelerating factor inhibits inflammation-induced myopia development.0
377957812024Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome.1
379265092024Complement C3 as a potential drug target in periodontitis: Evidence from the cis-Mendelian randomization approach.1
382517162024HylS', a fragment of truncated hyaluronidase of Streptococcus suis, contributes to immune evasion by interaction with host complement factor C3b.0
382557872024Serum Uric Acid Associates with Systemic Complement C3 Activation in Severe ANCA-Associated Renal Vasculitides.0
383105402024Increased expression of complement C3c, iC3b, and cells containing CD11b or CD14 in experimentally induced psoriatic lesion.0
384113152024Subsequent correlated changes in complement component 3 and amyloid beta oligomers in the blood of patients with Alzheimer's disease.1
387956842024Complement decay-accelerating factor inhibits inflammation-induced myopia development.0
350171572023Serum complement component 3, complement component 4 and complement component 1q levels predict progressive visual field loss in older women with primary angle closure glaucoma.4

Citation

Dessen P

C3 (complement C3)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/886/favicon/teaching-explorer/haematological-explorer/