GenTIGS

Complement C3 (C3) Associated conditions:

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000064.4	NP_000055.2	NC_000019.10	(6677703..6720649, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1754 reference articles

Variant Information Complement C3 (C3) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Complement C3 (C3)

ClinVar variants:Revealing mutagenic patterns

GO Term of Complement C3 (C3)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	involved_in	complement activation, lectin pathway	Process	18204047
2	Homo sapiens	IDA	involved_in	positive regulation of protein phosphorylation	Process	15833747
3	Homo sapiens	IEA	involved_in	positive regulation of activation of membrane attack complex	Process	-
4	Homo sapiens	IEA	involved_in	immune system process	Process	-
5	Homo sapiens	IEA	involved_in	complement receptor mediated signaling pathway	Process	-
6	Homo sapiens	IDA	enables	antigen binding	Function	3653927 3897448 6903192 8349625
7	Homo sapiens	IEA	enables	endopeptidase inhibitor activity	Function	-
8	Homo sapiens	TAS	enables	signaling receptor binding	Function	9164946
9	Homo sapiens	IPI	enables	protein binding	Function	7483825 11387479 11705926 12438350 12540846 16530040 16612335 17051150 18796626 19255449 20042240 21317894 21527715 21979047 22518841 23086448 24260121 26627825 27814381 28671664 32034129 32296183 33961781 37207277
10	Homo sapiens	IEA	is_active_in	extracellular region	Component	-
11	Homo sapiens	IEA	located_in	extracellular region	Component	-
12	Homo sapiens	TAS	located_in	extracellular region	Component	-
13	Homo sapiens	IDA	part_of	classical-complement-pathway C3/C5 convertase complex	Component	3874204 6611150 6906228 12878586 18204047
14	Homo sapiens	HDA	located_in	extracellular space	Component	16502470 23580065
15	Homo sapiens	IBA	is_active_in	extracellular space	Component	-
16	Homo sapiens	IDA	is_active_in	extracellular space	Component	37852260
17	Homo sapiens	IDA	located_in	extracellular space	Component	6225800 25645918
18	Homo sapiens	IEA	located_in	extracellular space	Component	-
19	Homo sapiens	NAS	located_in	extracellular space	Component	27031863 28671664
20	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
21	Homo sapiens	NAS	located_in	plasma membrane	Component	6906228 27031863
22	Homo sapiens	TAS	located_in	plasma membrane	Component	-
23	Homo sapiens	IDA	involved_in	proteolysis	Process	28671664
24	Homo sapiens	IEA	involved_in	lipid metabolic process	Process	-
25	Homo sapiens	IEA	involved_in	fatty acid metabolic process	Process	-
26	Homo sapiens	IEA	involved_in	inflammatory response	Process	-
27	Homo sapiens	TAS	involved_in	immune response	Process	4097977
28	Homo sapiens	IBA	involved_in	complement activation	Process	-
29	Homo sapiens	IDA	involved_in	complement activation	Process	6225800 12878586 37852260
30	Homo sapiens	IEA	involved_in	complement activation	Process	-
31	Homo sapiens	IMP	involved_in	complement activation	Process	19302245
32	Homo sapiens	NAS	involved_in	complement activation	Process	23901101 27031863
33	Homo sapiens	IDA	involved_in	complement activation, alternative pathway	Process	624565 3638964 6554279 6903192 6919543 8349625
34	Homo sapiens	IEA	involved_in	complement activation, alternative pathway	Process	-
35	Homo sapiens	IDA	involved_in	complement activation, classical pathway	Process	833545 3653927 3874204 3897448 6611150 12878586 18204047
36	Homo sapiens	IEA	involved_in	complement activation, classical pathway	Process	-
37	Homo sapiens	TAS	involved_in	signal transduction	Process	10085065
38	Homo sapiens	TAS	involved_in	G protein-coupled receptor signaling pathway	Process	9164946
39	Homo sapiens	IDA	enables	chemokine activity	Function	342601 5778786 37169960 37852260
40	Homo sapiens	IDA	involved_in	opsonization	Process	833545 3653927 3897448 6225800 6903192 8349625
41	Homo sapiens	IEA	located_in	cell surface	Component	-
42	Homo sapiens	IDA	involved_in	positive regulation of vascular endothelial growth factor production	Process	16452172
43	Homo sapiens	IDA	involved_in	positive regulation of D-glucose transmembrane transport	Process	9059512 15833747
44	Homo sapiens	IDA	involved_in	regulation of triglyceride biosynthetic process	Process	10432298
45	Homo sapiens	IDA	involved_in	positive regulation of lipid storage	Process	9555951
46	Homo sapiens	IEA	involved_in	neuron remodeling	Process	-
47	Homo sapiens	ISS	involved_in	neuron remodeling	Process	-
48	Homo sapiens	IDA	involved_in	regulation of complement activation	Process	6225800
49	Homo sapiens	IDA	involved_in	regulation of complement activation, alternative pathway	Process	28671664
50	Homo sapiens	IDA	involved_in	leukocyte chemotaxis	Process	342601
51	Homo sapiens	IDA	enables	C5L2 anaphylatoxin chemotactic receptor binding	Function	15833747
52	Homo sapiens	IEA	part_of	protein-containing complex	Component	-
53	Homo sapiens	TAS	located_in	secretory granule lumen	Component	-
54	Homo sapiens	TAS	located_in	azurophil granule lumen	Component	-
55	Homo sapiens	IDA	involved_in	B cell activation	Process	30107486
56	Homo sapiens	IEA	involved_in	innate immune response	Process	-
57	Homo sapiens	IDA	involved_in	positive regulation of G protein-coupled receptor signaling pathway	Process	15833747
58	Homo sapiens	IEA	involved_in	positive regulation of angiogenesis	Process	-
59	Homo sapiens	IDA	enables	receptor ligand activity	Function	21527715
60	Homo sapiens	IEA	involved_in	positive regulation of receptor-mediated endocytosis	Process	-
61	Homo sapiens	ISS	involved_in	positive regulation of receptor-mediated endocytosis	Process	-
62	Homo sapiens	NAS	involved_in	positive regulation of phagocytosis	Process	6225800
63	Homo sapiens	NAS	involved_in	positive regulation of immune response	Process	12878586 15454921 23901101 27031863
64	Homo sapiens	IEA	involved_in	positive regulation of phagocytosis, engulfment	Process	-
65	Homo sapiens	ISS	involved_in	positive regulation of phagocytosis, engulfment	Process	-
66	Homo sapiens	HDA	located_in	extracellular exosome	Component	21362503 23533145
67	Homo sapiens	HDA	located_in	blood microparticle	Component	22516433
68	Homo sapiens	IEA	involved_in	amyloid-beta clearance	Process	-
69	Homo sapiens	ISS	involved_in	amyloid-beta clearance	Process	-
70	Homo sapiens	IDA	located_in	cytoplasmic side of Golgi membrane	Component	23901101
71	Homo sapiens	NAS	located_in	cytoplasmic side of Golgi membrane	Component	23901101
72	Homo sapiens	IDA	is_active_in	symbiont cell surface	Component	833545 3653927 3897448 6903192 8349625
73	Homo sapiens	IEA	involved_in	complement-mediated synapse pruning	Process	-
74	Homo sapiens	ISS	involved_in	complement-mediated synapse pruning	Process	-
75	Homo sapiens	IEA	involved_in	vertebrate eye-specific patterning	Process	-
76	Homo sapiens	ISS	involved_in	vertebrate eye-specific patterning	Process	-
77	Homo sapiens	IDA	involved_in	complement activation, GZMK pathway	Process	39914456
78	Homo sapiens	IDA	involved_in	positive regulation of opsonization	Process	6225800
79	Homo sapiens	NAS	involved_in	positive regulation of opsonization	Process	12878586 23901101 27031863
80	Homo sapiens	IEA	involved_in	positive regulation of apoptotic cell clearance	Process	-
81	Homo sapiens	IMP	involved_in	positive regulation of apoptotic cell clearance	Process	19302245