Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
718 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Complement C3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
C3 |
SynonymsGene synonyms aliases
|
AHUS5, ARMD9, ASP, C3a, C3b, CPAMD1, HEL-S-62p |
ChromosomeChromosome number
|
19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19p13.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs2230199 |
G>C,T |
Risk-factor, benign |
Coding sequence variant, missense variant |
rs11569534 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs11569541 |
A>G,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs111595742 |
T>A,C |
Pathogenic |
Splice acceptor variant |
rs121909583 |
C>T |
Risk-factor |
Coding sequence variant, missense variant |
rs121909584 |
G>A |
Risk-factor |
Coding sequence variant, missense variant |
rs121909585 |
C>T |
Risk-factor |
Coding sequence variant, missense variant |
rs121909586 |
G>A,C |
Risk-factor |
Stop gained, coding sequence variant, synonymous variant |
rs147859257 |
T>G |
Uncertain-significance, benign, risk-factor |
Missense variant, coding sequence variant |
rs539992721 |
T>C,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs775015499 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794729228 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1568229677 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1599507415 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1599510478 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1599518940 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
CEBPD |
Unknown |
8385337 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001798 |
Process |
Positive regulation of type IIa hypersensitivity |
IEA |
|
GO:0001934 |
Process |
Positive regulation of protein phosphorylation |
IDA |
15833747 |
GO:0001970 |
Process |
Positive regulation of activation of membrane attack complex |
IEA |
|
GO:0004866 |
Function |
Endopeptidase inhibitor activity |
IEA |
|
GO:0005102 |
Function |
Signaling receptor binding |
TAS |
9164946 |
GO:0005515 |
Function |
Protein binding |
IPI |
7483825, 11705926, 12438350, 12540846, 16530040, 17051150, 18796626, 19255449, 20042240, 21317894, 21979047, 22518841, 23086448, 26627825, 27814381, 32296183 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005615 |
Component |
Extracellular space |
HDA |
16502470, 23580065 |
GO:0005615 |
Component |
Extracellular space |
IBA |
21873635 |
GO:0005615 |
Component |
Extracellular space |
IDA |
25645918 |
GO:0005788 |
Component |
Endoplasmic reticulum lumen |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0006631 |
Process |
Fatty acid metabolic process |
IEA |
|
GO:0006954 |
Process |
Inflammatory response |
IEA |
|
GO:0006955 |
Process |
Immune response |
TAS |
4097977 |
GO:0006956 |
Process |
Complement activation |
IBA |
21873635 |
GO:0006956 |
Process |
Complement activation |
IMP |
19302245 |
GO:0006956 |
Process |
Complement activation |
TAS |
|
GO:0006957 |
Process |
Complement activation, alternative pathway |
TAS |
|
GO:0006958 |
Process |
Complement activation, classical pathway |
IEA |
|
GO:0007165 |
Process |
Signal transduction |
TAS |
10085065 |
GO:0007186 |
Process |
G protein-coupled receptor signaling pathway |
TAS |
|
GO:0009617 |
Process |
Response to bacterium |
IEA |
|
GO:0009986 |
Component |
Cell surface |
IEA |
|
GO:0010575 |
Process |
Positive regulation of vascular endothelial growth factor production |
IDA |
16452172 |
GO:0010828 |
Process |
Positive regulation of glucose transmembrane transport |
IDA |
9059512, 15833747 |
GO:0010866 |
Process |
Regulation of triglyceride biosynthetic process |
IDA |
10432298 |
GO:0010884 |
Process |
Positive regulation of lipid storage |
IDA |
9555951 |
GO:0010951 |
Process |
Negative regulation of endopeptidase activity |
IEA |
|
GO:0016322 |
Process |
Neuron remodeling |
ISS |
|
GO:0030449 |
Process |
Regulation of complement activation |
TAS |
|
GO:0031715 |
Function |
C5L2 anaphylatoxin chemotactic receptor binding |
IDA |
15833747 |
GO:0032991 |
Component |
Protein-containing complex |
IEA |
|
GO:0034774 |
Component |
Secretory granule lumen |
TAS |
|
GO:0035578 |
Component |
Azurophil granule lumen |
TAS |
|
GO:0035846 |
Process |
Oviduct epithelium development |
IEA |
|
GO:0043312 |
Process |
Neutrophil degranulation |
TAS |
|
GO:0043687 |
Process |
Post-translational protein modification |
TAS |
|
GO:0044267 |
Process |
Cellular protein metabolic process |
TAS |
|
GO:0045745 |
Process |
Positive regulation of G protein-coupled receptor signaling pathway |
IDA |
15833747 |
GO:0045766 |
Process |
Positive regulation of angiogenesis |
IEA |
|
GO:0048260 |
Process |
Positive regulation of receptor-mediated endocytosis |
ISS |
|
GO:0050776 |
Process |
Regulation of immune response |
TAS |
|
GO:0060100 |
Process |
Positive regulation of phagocytosis, engulfment |
ISS |
|
GO:0070062 |
Component |
Extracellular exosome |
HDA |
21362503, 23533145 |
GO:0072562 |
Component |
Blood microparticle |
HDA |
22516433 |
GO:0097242 |
Process |
Amyloid-beta clearance |
ISS |
|
GO:0097278 |
Process |
Complement-dependent cytotoxicity |
IEA |
|
GO:0150062 |
Process |
Complement-mediated synapse pruning |
ISS |
|
GO:0150064 |
Process |
Vertebrate eye-specific patterning |
ISS |
|
GO:1905114 |
Process |
Cell surface receptor signaling pathway involved in cell-cell signaling |
IEA |
|
GO:2000427 |
Process |
Positive regulation of apoptotic cell clearance |
IMP |
19302245 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P01024 |
Protein name |
Complement C3 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1) [Cleaved into: Complement C3 beta chain; C3-beta-c (C3bc); Complement C3 alpha chain; C3a anaphylatoxin; Acylation stimulating protein (ASP) (C3adesArg); Complement C3b (Com |
Protein function |
Precursor of non-enzymatic components of the classical, alternative, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive im |
PDB |
1C3D
,
1GHQ
,
1W2S
,
2A73
,
2A74
,
2GOX
,
2I07
,
2ICE
,
2ICF
,
2NOJ
,
2QKI
,
2WII
,
2WIN
,
2WY7
,
2WY8
,
2XQW
,
2XWB
,
2XWJ
,
3D5R
,
3D5S
,
3G6J
,
3L3O
,
3L5N
,
3NMS
,
3OED
,
3OHX
,
3OXU
,
3RJ3
,
3T4A
,
4HW5
,
4HWJ
,
4I6O
,
4M76
,
4ONT
,
4ZH1
,
5FO7
,
5FO8
,
5FO9
,
5FOA
,
5FOB
,
5NBQ
,
5O32
,
5O35
,
6EHG
,
6RMT
,
6RMU
,
6RUR
,
6RUV
,
6S0B
,
6YO6
,
7AKK
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF17790 |
MG1 |
23 → 124 |
Macroglobulin domain MG1 |
Domain |
PF01835 |
MG2 |
129 → 224 |
MG2 domain |
Domain |
PF17791 |
MG3 |
226 → 308 |
Macroglobulin domain MG3 |
Domain |
PF17789 |
MG4 |
355 → 446 |
Macroglobulin domain MG4 |
Domain |
PF07703 |
A2M_BRD |
456 → 605 |
Alpha-2-macroglobulin bait region domain |
Domain |
PF01821 |
ANATO |
693 → 728 |
Anaphylotoxin-like domain |
Domain |
PF00207 |
A2M |
770 → 866 |
Alpha-2-macroglobulin family |
Family |
PF07678 |
TED_complement |
983 → 1282 |
A-macroglobulin TED domain |
Domain |
PF07677 |
A2M_recep |
1398 → 1493 |
A-macroglobulin receptor binding domain |
Domain |
PF01759 |
NTR |
1534 → 1644 |
UNC-6/NTR/C345C module |
Domain |
|
Sequence |
|
Sequence length |
1663 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
C3 deficiency |
Complement component 3 deficiency |
rs112996548, rs111595742, rs1568229677, rs1599518940 |
4117597 |
Complement component deficiency |
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE, Complement deficiency disease |
rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814 |
4117597, 18796626, 15781264, 26471127, 7961791, 4117597 |
Diabetes mellitus |
Diabetes Mellitus, Non-Insulin-Dependent |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 |
20504758 |
Hemolytic uremic syndrome |
Atypical Hemolytic Uremic Syndrome, Atypical hemolytic uremic syndrome with complement gene abnormality, Hemolytic-Uremic Syndrome |
rs398124292, rs121964913, rs121964914, rs121964915, rs121918667, rs33972593, rs117905900, rs121909748, rs460897, rs796052136, rs121913055, rs796052137, rs121913060, rs121913063, rs1558056827, rs1255421232, rs1441937053, rs121909590, rs121909583, rs121909584, rs121909586, rs460184, rs104886189, rs312262694, rs312262697, rs312262698, rs312262696, rs138924661, rs869312973, rs886039869, rs886039868, rs886043418, rs1057516191, rs1131690796, rs1553273733, rs1553251787, rs777787526, rs769742294, rs775015499, rs1555599211, rs1558162157, rs1600410451, rs368615806, rs1573026975, rs1573087200, rs1571588257, rs147972030, rs1906529223, rs749415630, rs1573076111, rs1300996807, rs1571616755, rs1571617647, rs1579173999, rs1599510478 |
26471127 |
Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
|
Age-related macular degeneration |
Age related macular degeneration, Macular Degeneration, Age-Related, 9, NON RARE IN EUROPE: Age-related macular degeneration |
rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475 |
17767156, 20385826, 23455636, 20861866, 29346644, 24036952, 20385819, 24036949, 24036950, 22705344, 26691988, 21665990, 24036952, 17634448 |
Nephrotic syndrome |
Nephrotic Syndrome |
rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391 |
|
Renal insufficiency |
Renal Insufficiency |
rs1596536873 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Antibody deficiency syndrome |
Antibody Deficiency Syndrome |
|
1350678 |
Cerebral infraction |
Infarction, Middle Cerebral Artery |
|
23199288 |
C3 glomerulopathy |
C3 glomerulopathy |
rs318240755, rs368209619, rs140215003, rs9427662, rs34533956, rs57960694, rs565457964, rs375481393, rs201084185, rs16840956, rs61745675, rs147791058, rs147488267, rs7532068, rs114023763, rs140691305, rs139017763, rs35662416, rs751010317, rs185709089, rs772780646, rs771972507, rs12097550, rs143140599, rs41306229, rs141358257, rs556270179, rs550747814 |
26471127 |
Cerebral ischemia |
Brain Stem Ischemia, Transient, Transient Cerebral Ischemia |
|
23199288 |
Cerebral thrombosis |
Middle Cerebral Artery Thrombosis |
|
23199288 |
Exudative macular degeneration |
Exudative age-related macular degeneration, exudative macular degeneration |
|
22705344, 26691988, 26691988, 22705344 |
Geographic atrophy |
Geographic Atrophy |
|
26691988, 22705344 |
Henoch-schonlein nephritis |
Henoch-Schoenlein Purpura |
|
1353212 |
Heymann nephritis |
Heymann Nephritis |
|
25954969 |
Immunologic deficiency syndromes |
Immunologic Deficiency Syndromes |
|
1350678 |
Kidney failure |
Kidney Failure, Acute |
|
28885000 |
Lupus erythematosus |
Lupus Erythematosus, Systemic |
|
|
Membranous glomerulonephritis |
Membranous glomerulonephritis, Idiopathic Membranous Glomerulonephritis |
|
25954969 |
Microangiopathic hemolytic anemia |
Microangiopathic hemolytic anemia |
|
|
Paratuberculosis |
Paratuberculosis |
|
22633222 |
Pemphigus |
Pemphigus |
|
74171 |
Pemphigus foliaceus |
Pemphigus Foliaceus |
|
74171 |
Pemphigus vulgaris |
Pemphigus Vulgaris |
|
74171 |
Acute kidney insufficiency |
Acute Kidney Insufficiency |
|
28885000 |
Transient ischemic attack |
Transient Ischemic Attack, Posterior Circulation Transient Ischemic Attack, Carotid Circulation Transient Ischemic Attack, Transient Ischemic Attack, Vertebrobasilar Circulation, Crescendo Transient Ischemic Attacks, Transient Ischemic Attack, Anterior Circulation |
|
23199288 |
|
|
|