Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	718
Gene name	Complement C3
Gene symbol	C3
Synonyms (NCBI Gene)	AHUS5ARMD9ASPC3aC3bCPAMD1HEL-S-62p
Chromosome	19
Chromosome location	19p13.3
Summary	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

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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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT027814	hsa-miR-98-5p	Microarray	19088304
MIRT030181	hsa-miR-26b-5p	Microarray	19088304
MIRT696544	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT542444	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT542445	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT542443	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT696543	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT542441	hsa-miR-4486	HITS-CLIP	23313552
MIRT461959	hsa-miR-5186	HITS-CLIP	23313552
MIRT461958	hsa-miR-4537	HITS-CLIP	23313552
MIRT461952	hsa-miR-4252	HITS-CLIP	23313552
MIRT542439	hsa-miR-1273a	HITS-CLIP	23313552
MIRT542438	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT542437	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT461948	hsa-miR-1227-3p	HITS-CLIP	23313552
MIRT542436	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT542435	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT696542	hsa-miR-7703	HITS-CLIP	23313552
MIRT461945	hsa-miR-550b-2-5p	HITS-CLIP	23313552
MIRT696541	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT696540	hsa-miR-216b-5p	HITS-CLIP	23313552
MIRT696539	hsa-miR-302f	HITS-CLIP	23313552
MIRT696538	hsa-miR-890	HITS-CLIP	23313552
MIRT696537	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696536	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT696535	hsa-miR-940	HITS-CLIP	23313552
MIRT696534	hsa-miR-3929	HITS-CLIP	23313552
MIRT696533	hsa-miR-4419b	HITS-CLIP	23313552
MIRT696532	hsa-miR-4478	HITS-CLIP	23313552
MIRT696531	hsa-miR-5690	HITS-CLIP	23313552
MIRT696529	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT696530	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT696528	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT696527	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT696526	hsa-miR-1827	HITS-CLIP	23313552
MIRT696525	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT696524	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT696523	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT696522	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT696521	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696520	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696519	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696518	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696517	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT461950	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696516	hsa-miR-1273e	HITS-CLIP	23313552
MIRT696515	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696514	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696513	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696512	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696511	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696510	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696509	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696508	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696507	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696506	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696505	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696504	hsa-miR-665	HITS-CLIP	23313552
MIRT665050	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT680473	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT461960	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT680472	hsa-miR-4532	HITS-CLIP	23824327
MIRT665049	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT680471	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT665048	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT665047	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT680470	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT680469	hsa-miR-3135b	HITS-CLIP	23824327
MIRT680468	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT680467	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT665046	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT680466	hsa-miR-4284	HITS-CLIP	23824327
MIRT665045	hsa-miR-5698	HITS-CLIP	23824327
MIRT665050	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT665049	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT665048	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT665047	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT665046	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT665045	hsa-miR-5698	HITS-CLIP	23824327
MIRT542446	hsa-miR-4432	PAR-CLIP	21572407
MIRT542447	hsa-miR-589-3p	PAR-CLIP	21572407
MIRT542444	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT542445	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT542443	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT542441	hsa-miR-4486	PAR-CLIP	21572407
MIRT542442	hsa-miR-4522	PAR-CLIP	21572407
MIRT542440	hsa-miR-661	PAR-CLIP	21572407
MIRT542439	hsa-miR-1273a	PAR-CLIP	21572407
MIRT542438	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT542437	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT542436	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT542435	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT542434	hsa-miR-5001-3p	PAR-CLIP	21572407
MIRT519243	hsa-miR-4438	PAR-CLIP	23446348
MIRT519242	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519241	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT461952	hsa-miR-4252	PAR-CLIP	23446348
MIRT519240	hsa-miR-5095	PAR-CLIP	23446348
MIRT519239	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT461960	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT461959	hsa-miR-5186	PAR-CLIP	23592263
MIRT461958	hsa-miR-4537	PAR-CLIP	23592263
MIRT461957	hsa-miR-6134	PAR-CLIP	23592263
MIRT461956	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT461955	hsa-miR-6086	PAR-CLIP	23592263
MIRT461954	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT461952	hsa-miR-4252	PAR-CLIP	23592263
MIRT461953	hsa-miR-3689d	PAR-CLIP	23592263
MIRT461951	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT461950	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT461949	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT461948	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT461947	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT461946	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT461945	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT461944	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT542439	hsa-miR-1273a	PAR-CLIP	27292025
MIRT696512	hsa-miR-1273h-5p	PAR-CLIP	27292025
MIRT030181	hsa-miR-26b-5p	PAR-CLIP	27292025
MIRT696511	hsa-miR-30b-3p	PAR-CLIP	27292025
MIRT696510	hsa-miR-3689a-3p	PAR-CLIP	27292025
MIRT696509	hsa-miR-3689b-3p	PAR-CLIP	27292025
MIRT696508	hsa-miR-3689c	PAR-CLIP	27292025
MIRT542446	hsa-miR-4432	PAR-CLIP	27292025
MIRT542441	hsa-miR-4486	PAR-CLIP	27292025
MIRT542442	hsa-miR-4522	PAR-CLIP	27292025
MIRT542438	hsa-miR-4649-5p	PAR-CLIP	27292025
MIRT542434	hsa-miR-5001-3p	PAR-CLIP	27292025
MIRT542447	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT542436	hsa-miR-6512-3p	PAR-CLIP	27292025
MIRT542435	hsa-miR-6720-5p	PAR-CLIP	27292025
MIRT542437	hsa-miR-6729-5p	PAR-CLIP	27292025
MIRT696507	hsa-miR-6779-5p	PAR-CLIP	27292025
MIRT696506	hsa-miR-6780a-5p	PAR-CLIP	27292025
MIRT542444	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT542445	hsa-miR-939-3p	PAR-CLIP	27292025
MIRT696544	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT542444	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT542445	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT542443	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT696543	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT542441	hsa-miR-4486	HITS-CLIP	23313552
MIRT461959	hsa-miR-5186	HITS-CLIP	23313552
MIRT461958	hsa-miR-4537	HITS-CLIP	23313552
MIRT461952	hsa-miR-4252	HITS-CLIP	23313552
MIRT542439	hsa-miR-1273a	HITS-CLIP	23313552
MIRT542438	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT542437	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT461948	hsa-miR-1227-3p	HITS-CLIP	23313552
MIRT542436	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT542435	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT696542	hsa-miR-7703	HITS-CLIP	23313552
MIRT461945	hsa-miR-550b-2-5p	HITS-CLIP	23313552
MIRT696541	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT696540	hsa-miR-216b-5p	HITS-CLIP	23313552
MIRT696539	hsa-miR-302f	HITS-CLIP	23313552
MIRT696538	hsa-miR-890	HITS-CLIP	23313552
MIRT696537	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696536	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT696535	hsa-miR-940	HITS-CLIP	23313552
MIRT696534	hsa-miR-3929	HITS-CLIP	23313552
MIRT696533	hsa-miR-4419b	HITS-CLIP	23313552
MIRT696532	hsa-miR-4478	HITS-CLIP	23313552
MIRT696531	hsa-miR-5690	HITS-CLIP	23313552
MIRT696529	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT696530	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT696528	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT696527	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT696526	hsa-miR-1827	HITS-CLIP	23313552
MIRT696525	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT696524	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT696523	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT696522	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT696521	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696520	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696519	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696518	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696517	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT461950	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696516	hsa-miR-1273e	HITS-CLIP	23313552
MIRT696515	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696514	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696513	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696512	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696511	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696510	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696509	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696508	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696507	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696506	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696505	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696504	hsa-miR-665	HITS-CLIP	23313552
MIRT665050	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT680473	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT461960	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT680472	hsa-miR-4532	HITS-CLIP	23824327
MIRT665049	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT680471	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT665048	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT665047	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT680470	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT680469	hsa-miR-3135b	HITS-CLIP	23824327
MIRT680468	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT680467	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT665046	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT680466	hsa-miR-4284	HITS-CLIP	23824327
MIRT665045	hsa-miR-5698	HITS-CLIP	23824327
MIRT665050	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT665049	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT665048	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT665047	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT665046	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT665045	hsa-miR-5698	HITS-CLIP	23824327
MIRT542446	hsa-miR-4432	PAR-CLIP	21572407
MIRT542447	hsa-miR-589-3p	PAR-CLIP	21572407
MIRT542444	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT542445	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT542443	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT542441	hsa-miR-4486	PAR-CLIP	21572407
MIRT542442	hsa-miR-4522	PAR-CLIP	21572407
MIRT542440	hsa-miR-661	PAR-CLIP	21572407
MIRT542439	hsa-miR-1273a	PAR-CLIP	21572407
MIRT542438	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT542437	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT542436	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT542435	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT542434	hsa-miR-5001-3p	PAR-CLIP	21572407
MIRT519243	hsa-miR-4438	PAR-CLIP	23446348
MIRT519242	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519241	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT461952	hsa-miR-4252	PAR-CLIP	23446348
MIRT519240	hsa-miR-5095	PAR-CLIP	23446348
MIRT519239	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT461960	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT461959	hsa-miR-5186	PAR-CLIP	23592263
MIRT461958	hsa-miR-4537	PAR-CLIP	23592263
MIRT461957	hsa-miR-6134	PAR-CLIP	23592263
MIRT461956	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT461955	hsa-miR-6086	PAR-CLIP	23592263
MIRT461954	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT461952	hsa-miR-4252	PAR-CLIP	23592263
MIRT461953	hsa-miR-3689d	PAR-CLIP	23592263
MIRT461951	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT461950	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT461949	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT461948	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT461947	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT461946	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT461945	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT461944	hsa-miR-6516-5p	PAR-CLIP	23592263

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Transcription factor	Regulation	Reference
CEBPD	Unknown	8385337

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001798	Process	Positive regulation of type IIa hypersensitivity	IEA
GO:0001867	Process	Complement activation, lectin pathway	IDA	22691502
GO:0001867	Process	Complement activation, lectin pathway	IDA	18204047
GO:0001905	Process	Activation of membrane attack complex	IDA	18204047, 30643019
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	15833747
GO:0001970	Process	Positive regulation of activation of membrane attack complex	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002430	Process	Complement receptor mediated signaling pathway	IEA
GO:0003823	Function	Antigen binding	IDA	3653927, 3897448, 6903192, 8349625
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0005102	Function	Signaling receptor binding	TAS	9164946
GO:0005515	Function	Protein binding	IPI	7483825, 11387479, 11705926, 12438350, 12540846, 16530040, 16612335, 17051150, 18796626, 19255449, 20042240, 21317894, 21527715, 21979047, 22518841, 23086448, 24260121, 26627825, 27814381, 28671664, 32034129, 32296183, 33961781, 37207277
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005601	Component	Classical-complement-pathway C3/C5 convertase complex	IDA	3874204, 6611150, 6906228, 12878586, 18204047
GO:0005615	Component	Extracellular space	HDA	16502470, 23580065
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	37852260
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
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
GO:0006956	Process	Complement activation	IDA	26841934, 30111885, 37852260
GO:0006956	Process	Complement activation	IDA	37852260
GO:0006956	Process	Complement activation	IEA
GO:0006956	Process	Complement activation	IEA
GO:0006956	Process	Complement activation	IMP	19302245
GO:0006957	Process	Complement activation, alternative pathway	IDA	30643019
GO:0006957	Process	Complement activation, alternative pathway	IDA	624565, 3638964, 6554279, 6903192, 6919543, 8349625
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	IDA	833545, 3653927, 3874204, 3897448, 6611150, 12878586, 18204047
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	10085065
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	9164946
GO:0008009	Function	Chemokine activity	IDA	342601, 5778786, 37169960, 37852260
GO:0008228	Process	Opsonization	IDA	833545, 3653927, 3897448, 6903192, 8349625
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 D-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:0016322	Process	Neuron remodeling	IEA
GO:0016322	Process	Neuron remodeling	ISS
GO:0030595	Process	Leukocyte chemotaxis	IDA	342601
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
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:0042113	Process	B cell activation	IDA	30107486
GO:0042113	Process	B cell activation	IDA	30107486
GO:0042113	Process	B cell activation	TAS	19290921
GO:0045087	Process	Innate immune response	IEA
GO:0045745	Process	Positive regulation of G protein-coupled receptor signaling pathway	IDA	15833747
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0048018	Function	Receptor ligand activity	IDA	21527715, 37852260
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IEA
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	ISS
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0051604	Process	Protein maturation	IDA	3638964, 18204047, 30643019
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IEA
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	IEA
GO:0097242	Process	Amyloid-beta clearance	ISS
GO:0097278	Process	Complement-dependent cytotoxicity	IEA
GO:0106139	Component	Symbiont cell surface	IDA	833545, 3653927, 3897448, 6903192, 8349625
GO:0150062	Process	Complement-mediated synapse pruning	IEA
GO:0150062	Process	Complement-mediated synapse pruning	ISS
GO:0150064	Process	Vertebrate eye-specific patterning	IEA
GO:0150064	Process	Vertebrate eye-specific patterning	ISS
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:2000427	Process	Positive regulation of apoptotic cell clearance	IEA
GO:2000427	Process	Positive regulation of apoptotic cell clearance	IMP	19302245

MIM	HGNC	e!Ensembl
120700	1318	ENSG00000125730

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

Tissue specificity

TISSUE SPECIFICITY: Plasma. {ECO:0000269|PubMed:9555951}.; TISSUE SPECIFICITY: [Acylation stimulating protein]: Produced in adipocytes and released into the plasma during both the fasting and postprandial periods. {ECO:0000269|PubMed:15833747}.

Sequence

MGPTSGPSLLLLLLTHLPLALGSPMYSIITPNILRLESEETMVLEAHDAQGDVPVTVTVH
DFPGKKLVLSSEKTVLTPATNHMGNVTFTIPANREFKSEKGRNKFVTVQATFGTQVVEKV
VLVSLQSGYLFIQTDKTIYTPGSTVLYRIFTVNHKLLPVGRTVMVNIENPEGIPVKQDSL
SSQNQLGVLPLSWDIPELVNMGQWKIRAYYENSPQQVFSTEFEVKEYVLPSFEVIVEPTE
KFYYIYNEKGLEVTITARFLYGKKVEGTAFVIFGIQDGEQRISLPESLKRIPIEDGSGEV
VLSRKVLLDGVQNPRAEDLVGKSLYVSATVILHSGSDMVQAERSGIPIVTSPYQIHFTKT
PKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQSLTQGDGVAKLSINTHPSQKPL
SITVRTKKQELSEAEQATRTMQALPYSTVGNSNNYLHLSVLRTELRPGETLNVNFLLRMD
RAHEAKIRYYTYLIMNKGRLLKAGRQVREPGQDLVVLPLSITTDFIPSFRLVAYYTLIGA
SGQREVVADSVWVDVKDSCVGSLVVKSGQSEDRQPVPGQQMTLKIEGDHGARVVLVAVDK
GVFVLNKKNKLTQSKIWDVVEKADIGCTPGSGKDYAGVFSDAGLTFTSSSGQQTAQRAEL
QCPQPAARRRRSVQLTEKRMDKVGKYPKELRKCCEDGMRENPMRFSCQRRTRFISLGEAC
KKVFLDCCNYITELRRQHARASHLGLARSNLDEDIIAEENIVSRSEFPESWLWNVEDLKE
PPKNGISTKLMNIFLKDSITTWEILAVSMSDKKGICVADPFEVTVMQDFFIDLRLPYSVV
RNEQVEIRAVLYNYRQNQELKVRVELLHNPAFCSLATTKRRHQQTVTIPPKSSLSVPYVI
VPLKTGLQEVEVKAAVYHHFISDGVRKSLKVVPEGIRMNKTVAVRTLDPERLGREGVQKE
DIPPADLSDQVPDTESETRILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTP
TVIAVHYLDETEQWEKFGLEKRQGALELIKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTA
YVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQEDAPVIHQEMIGGLRNNNEKD
MALTAFVLISLQEAKDICEEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMG
RLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQR
YYGGGYGSTQATFMVFQALAQYQKDAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLR
SEETKENEGFTVTAEGKGQGTLSVVTMYHAKAKDQLTCNKFDLKVTIKPAPETEKRPQDA
KNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSD
RNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNLEESCTRFYHPEKEDG
KLNKLCRDELCRCAEENCFIQKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDE
YIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKKHYLMWGLSSDFWGEKPNLSY
IIGKDTWVEHWPEEDECQDEENQKQCQDLGAFTESMVVFGCPN

Sequence length

1663

Interactions

View interactions

1271

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Age related macular degeneration 9	Likely pathogenic; Pathogenic	rs1337559480, rs551385421, rs121909583	RCV002479579 RCV005015009 RCV002496404
Atypical hemolytic-uremic syndrome	Likely pathogenic; Pathogenic	rs776423109, rs121909583, rs121909584, rs771353792, rs1918142335	RCV005863447 RCV005862725 RCV005862726 RCV005863897 RCV001328273
Atypical hemolytic-uremic syndrome with C3 anomaly	Likely pathogenic; Pathogenic	rs776423109, rs1337559480, rs112780195, rs551385421, rs121909583, rs121909584, rs1568212112	RCV002466678 RCV002479579 RCV003320432 RCV005015009 RCV000018589 RCV000018590 RCV001280826
C3 DEFICIENCY	Pathogenic; Likely pathogenic	rs112996548, rs111595742	RCV000018587 RCV000018593
C3 glomerulonephritis	Likely pathogenic; Pathogenic	rs776423109, rs121909583, rs771353792	RCV005863447 RCV005862725 RCV005863897
C3-related disorder	Likely pathogenic; Pathogenic	rs121909583	RCV004751217
Complement component 3 deficiency	Likely pathogenic; Pathogenic	rs1337559480, rs113782618, rs2512233517, rs551385421, rs112996548, rs121909583, rs111595742, rs1568229677, rs1599518940, rs1568212112	RCV002479579 RCV006269824 RCV003486307 RCV005015009 RCV005862724 RCV002496404 RCV005862729 RCV000735715 RCV001030001 RCV005863399
Familial Atypical Hemolytic-Uremic Syndrome	Likely pathogenic; Pathogenic	rs121909583, rs771353792	RCV001844014 RCV003988253

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs2230207	RCV005894856
C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE	Benign	rs1047286	RCV000018586
C3S/C3F POLYMORPHISM	Benign	rs2230199	RCV000018585
Cervical cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	rs11569582, rs10410674, rs372843505, rs144643540, rs2230207, rs150007726	RCV005916702 RCV005923491 RCV005921348 RCV005931264 RCV005894857 RCV005894866
Cholangiocarcinoma	Benign	rs11569582, rs10410674, rs2230207	RCV005916704 RCV005923493 RCV005894864
Clear cell carcinoma of kidney	Benign	rs2230207	RCV005894858
Colon adenocarcinoma	Benign	rs2230209, rs2230207	RCV005894850 RCV005894854
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	rs138474927, rs372843505	RCV005926097 RCV005921347
Familial hemolytic anemia	Uncertain significance	rs1348311492	RCV000655926
Focal segmental glomerulosclerosis	Benign	rs2230199, rs1047286	RCV002293984 RCV002293985
Gastric cancer	Likely benign; Benign	rs144643540, rs2230207	RCV005931265 RCV005894859
Hepatocellular carcinoma	Benign	rs11569507, rs2230209, rs2230207	RCV005923011 RCV005894851 RCV005894855
Kidney disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs1439357401, rs2241394, rs146613648, rs202078483, rs1803223, rs184430616	RCV002294620 RCV002294044 RCV002294282 RCV002294283 RCV002294427 RCV002294423
Lung cancer	Benign; Likely benign	rs11569582, rs144643540, rs2230209, rs2230207	RCV005916705 RCV005931268 RCV005894852 RCV005894865
Macular degeneration	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs140718871, rs886054652, rs886054654, rs528697923, rs886054653, rs775843240	RCV000396795 RCV000340071 RCV000343237 RCV000301563 RCV000333034 RCV000296792
MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO	Benign; Conflicting classifications of pathogenicity	rs2230199, rs147859257	RCV000018584 RCV000077796
Malignant tumor of esophagus	Benign; Likely benign	rs11569582, rs144643540	RCV005916701 RCV005931263
Mesangiocapillary glomerulonephritis	Uncertain significance	rs1599507415	RCV001003785
Nonpapillary renal cell carcinoma	Uncertain significance	rs112179814	RCV005923917 RCV005926740
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs10410674, rs138474927, rs144643540, rs2230207	RCV005923492 RCV005926098 RCV005931266 RCV005894860
Premature ovarian failure	Uncertain significance	rs201572752	RCV001002731
Retinal dystrophy	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs551187980, rs112187261, rs372528487, rs200772969, rs147859257	RCV004815609 RCV004816905 RCV004816966 RCV004818429 RCV004814999
Sarcoma	Benign; Likely benign	rs11569540	RCV005904636
Thymoma	Benign	rs11569507, rs2230207	RCV005923013 RCV005894862
Thyroid cancer, nonmedullary, 1	Benign	rs2230207	RCV005894863
Uterine carcinosarcoma	Benign; Likely benign	rs11569582, rs11569507, rs138474927, rs144643540, rs2230207	RCV005916703 RCV005923012 RCV005926099 RCV005931267 RCV005894861
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs144643540, rs2230209	RCV005931269 RCV005894853

Show/Hide Text Mining Associations (162)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Associate	30131807
Acute Kidney Injury	Associate	25523333, 33801801
Adenocarcinoma	Associate	9528886
Alternating hemiplegia of childhood	Associate	20852386, 21555552, 33519811
Alzheimer Disease	Associate	21403675, 32831200, 35387811
Anemia Sickle Cell	Associate	30630982
Arthritis Rheumatoid	Associate	32884942, 3486637
Asthma	Associate	32817007
Astrocytoma	Associate	10349852
Atherosclerosis	Associate	22194611, 31829184
Atrial Fibrillation	Associate	36042613
Atypical Hemolytic Uremic Syndrome	Associate	18796626, 19590060, 22246034, 22669319, 25608561, 25879158, 31522186, 35069568
Basal Laminar Drusen	Associate	22933840
Behcet Syndrome	Associate	26269006
Bone Diseases	Associate	37816044
Brachydactyly Type D	Stimulate	28504607
Brain Diseases	Associate	23028511
Brain Injuries	Associate	24475278
Breast Neoplasms	Associate	20237941, 21871081, 33658651, 35403306
Buschke Ollendorff syndrome	Associate	31616421
Carcinoma Hepatocellular	Associate	10931136, 23935864, 26540347, 31136099, 33176600, 33633112
Carcinoma Non Small Cell Lung	Associate	26462029, 28371058, 37291119
Carcinoma Renal Cell	Associate	34688260
Cardiomyopathy Hypertrophic	Associate	31243064
Colitis Microscopic	Associate	35301900
Colitis Ulcerative	Associate	8504966
Colorectal Neoplasms	Associate	11862418
Compassion Fatigue	Stimulate	37308987
Complement Factor H Deficiency	Associate	29592796, 33519811
Complement Factor H Deficiency	Stimulate	29874282, 30975435
Conjunctival Diseases	Associate	28918083
Coronary Artery Disease	Associate	30611277, 31829184
COVID 19	Associate	32961333, 35032429, 35064759, 36805858, 37244049
COVID 19	Stimulate	35064759
Creutzfeldt Jakob Syndrome	Inhibit	27138196
Crohn Disease	Associate	10759760
Cystic Fibrosis	Associate	1008062
Death	Associate	22415003, 26462029, 31844116
Diabetes Gestational	Associate	36080270
Diabetes Mellitus Type 1	Associate	27306948
Diabetes Mellitus Type 2	Associate	20019678, 32235466
Diabetes Mellitus Type 2	Stimulate	32819140
Diabetic Nephropathies	Associate	34424825
Dry Eye Syndromes	Associate	28918083
Early Onset Glaucoma	Associate	31844116
Endocarditis	Associate	32544089
Endometrial Neoplasms	Associate	9314915
Endometriosis	Associate	21733505
Epilepsy	Associate	20862287
Epilepsy Familial Mesial Temporal Lobe	Associate	20862287
Epilepsy Temporal Lobe	Associate	20862287
Escherichia coli Infections	Associate	33374102
Esophageal Squamous Cell Carcinoma	Associate	33650665
Fabry Disease	Associate	38304433
Fibrosis	Associate	30405606
Frontotemporal Dementia	Associate	36064709
Gastrointestinal Hemorrhage	Associate	31522186
Geographic Atrophy	Associate	19823576, 25962167
Glomerulonephritis	Associate	36227893
Glomerulonephritis	Stimulate	37713183
Glomerulonephritis IGA	Associate	33389462, 37651123
Glomerulonephritis Membranoproliferative	Associate	20852386
Glycogen Storage Disease Type II	Associate	19117936, 25214719, 32407518
Granulomatous Mastitis	Associate	39796280
Gray Platelet Syndrome	Stimulate	28707765
Heart Diseases	Associate	22246034
Heart Failure	Associate	31844116
Hematuria	Associate	19590060
Hematuria	Inhibit	23963626
Hemolytic Uremic Syndrome	Associate	33519811, 33879077
Hemorrhage	Associate	31522186
Hepatitis Alcoholic	Associate	35490715
HIV Infections	Associate	28862830
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	36982499
Hypertension	Associate	19590060, 22471352
Hypertriglyceridemia	Associate	19828715
Hypertrophy Left Ventricular	Associate	31243064
Hypothyroidism	Associate	29301248
Hypothyroidism Congenital Nongoitrous 2	Associate	22633261
Idiopathic Pulmonary Fibrosis	Stimulate	24958208
IgA Deficiency	Associate	22996269
IgA Vasculitis	Stimulate	25760949
Immunologic Deficiency Syndromes	Associate	25205734, 29874282, 31993713
Infections	Associate	36805858
Infertility	Associate	21733505
Inflammation	Associate	10349852, 22246034, 22674410, 24475278, 25124117, 25214719, 30385096, 34836106, 37173738
Inflammation	Stimulate	30032131, 33558694, 35132719, 39673130
Inflammatory Bowel Diseases	Associate	20089077
Insulin Resistance	Associate	34836106
Intestinal Neoplasms	Associate	40312330
Kidney Diseases	Associate	25124117, 9648070
Kidney Diseases	Stimulate	29555686
Kidney Failure Chronic	Associate	19590060, 22246034
Latent Tuberculosis	Stimulate	27852671
Leprosy	Associate	29565968
Leukemia	Associate	31231394
Leukemia Lymphocytic Chronic B Cell	Associate	22170086
Linear IgA Bullous Dermatosis	Associate	28300887
Liver Cirrhosis	Associate	38287828
Liver Diseases	Associate	23935864
Lung Neoplasms	Associate	31854219
Lupus Erythematosus Systemic	Associate	18383369, 22949303, 26076826, 28063160, 29884225, 35172900, 35418986, 35543435
Lupus Nephritis	Associate	30594048, 30975435, 36104119
Lymphatic Metastasis	Associate	33658651
Lymphoma B Cell Marginal Zone	Associate	22170086
Lymphoma Follicular	Associate	646924
Lymphoma Non Hodgkin	Associate	22170086
Macular Degeneration	Associate	17634448, 18325906, 19169411, 19202148, 19823576, 20157618, 20664795, 21139680, 21169531, 21197116, 21402993, 21555552, 21906714, 22174912, 22694956 View all (20 more)
Macular Degeneration	Stimulate	30820144, 31267090
Macular Degeneration Age Related 2	Associate	23112567
Malaria	Associate	34842470
Melanoma	Associate	35669782
Meningitis Bacterial	Associate	22415003
Meningitis Pneumococcal	Associate	22415003
Metabolic Syndrome	Associate	19828715
Mouth Diseases	Associate	28707765
Multiple Sclerosis	Stimulate	23762311
Myotonic Dystrophy	Associate	6620325
Neoplasm Metastasis	Inhibit	36822455
Neoplasms	Associate	26540347, 31136099, 31365168, 31659097
Neurocognitive Disorders	Associate	20841369
Neuromyelitis Optica	Associate	39457022
Noncommunicable Diseases	Stimulate	38187376
Nose Diseases	Associate	32724828
Obesity	Associate	21203453, 24287500, 24743347, 25415563
Obesity	Stimulate	30536591
Osteogenesis imperfecta type 1A	Associate	27306948
Osteoporosis	Inhibit	29518962
Ovarian Neoplasms	Associate	12402151, 28683725
Parkinson Disease	Associate	15920296
Pneumonia	Associate	35836993
Polycystic Ovary Syndrome	Associate	31173497, 32323743, 36980195, 37181037, 40243681
Polypoidal Choroidal Vasculopathy	Associate	25388911, 32328755
Protein Losing Enteropathies	Associate	35630075
Proteinuria	Associate	23963626, 37108355
Purpura Thrombocytopenic Idiopathic	Associate	34329516
Rectal Neoplasms	Associate	39278399
Red Cell Aplasia Pure	Associate	3987091
Renal Insufficiency Chronic	Associate	19590060, 32004338
Respiratory Distress Syndrome	Associate	32961333
Restless Legs Syndrome	Associate	30244532
Reticular dysgenesis	Associate	31558345
Retinal Detachment	Associate	30142373, 37761846
Retinal Drusen	Associate	25214719, 32407518
Retinal Vein Occlusion	Associate	27362861, 33270842
Retrograde Degeneration	Associate	33558694
Scleroderma Diffuse	Associate	33809015, 39273179
Scleroderma Systemic	Associate	30885245
Seizures Febrile	Associate	20862287
Severe Acute Respiratory Syndrome	Associate	34842470
Sjogren's Syndrome	Associate	36113315
Stevens Johnson Syndrome	Stimulate	31795786
Stomach Neoplasms	Stimulate	31928530
Thalamic Diseases	Associate	35132719
Thyroid Cancer Papillary	Associate	30058426
Uveitis Anterior	Stimulate	38187376
Uveitis Intermediate	Associate	28408754
Uveitis Posterior	Associate	38187376
Vasculitis	Associate	2141558, 35747245
Vasculitis Leukocytoclastic Cutaneous	Associate	35747245
Vision Disorders	Associate	22699975
Wounds and Injuries	Associate	30451738

C3 (complement C3)