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	V9HWA9

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 1692 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	IEA	involved_in	positive regulation of type IIa hypersensitivity	Process	-
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	enables	endopeptidase inhibitor activity	Function	-
5	Homo sapiens	TAS	enables	signaling receptor binding	Function	9164946
6	Homo sapiens	IPI	enables	protein binding	Function	7483825 11387479 11705926 12438350 12540846 16530040 17051150 18796626 19255449 20042240 21317894 21527715 21979047 22518841 23086448 26627825 27814381 32296183
7	Homo sapiens	TAS	located_in	extracellular region	Component	-
8	Homo sapiens	HDA	located_in	extracellular space	Component	16502470 23580065
9	Homo sapiens	IBA	is_active_in	extracellular space	Component	21873635
10	Homo sapiens	IDA	located_in	extracellular space	Component	25645918
11	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
12	Homo sapiens	TAS	located_in	plasma membrane	Component	-
13	Homo sapiens	IEA	involved_in	fatty acid metabolic process	Process	-
14	Homo sapiens	IEA	involved_in	inflammatory response	Process	-
15	Homo sapiens	TAS	involved_in	immune response	Process	4097977
16	Homo sapiens	IBA	involved_in	complement activation	Process	21873635
17	Homo sapiens	IMP	involved_in	complement activation	Process	19302245
18	Homo sapiens	IEA	involved_in	complement activation, alternative pathway	Process	-
19	Homo sapiens	IEA	involved_in	complement activation, classical pathway	Process	-
20	Homo sapiens	TAS	involved_in	signal transduction	Process	10085065
21	Homo sapiens	TAS	involved_in	G protein-coupled receptor signaling pathway	Process	9164946
22	Homo sapiens	IEA	involved_in	response to bacterium	Process	-
23	Homo sapiens	IEA	located_in	cell surface	Component	-
24	Homo sapiens	IDA	involved_in	positive regulation of vascular endothelial growth factor production	Process	16452172
25	Homo sapiens	IDA	involved_in	positive regulation of glucose transmembrane transport	Process	9059512 15833747
26	Homo sapiens	IDA	involved_in	regulation of triglyceride biosynthetic process	Process	10432298
27	Homo sapiens	IDA	involved_in	positive regulation of lipid storage	Process	9555951
28	Homo sapiens	ISS	involved_in	neuron remodeling	Process	-
29	Homo sapiens	IDA	enables	C5L2 anaphylatoxin chemotactic receptor binding	Function	15833747
30	Homo sapiens	IEA	part_of	protein-containing complex	Component	-
31	Homo sapiens	TAS	located_in	secretory granule lumen	Component	-
32	Homo sapiens	TAS	located_in	azurophil granule lumen	Component	-
33	Homo sapiens	IEA	involved_in	oviduct epithelium development	Process	-
34	Homo sapiens	IDA	involved_in	positive regulation of G protein-coupled receptor signaling pathway	Process	15833747
35	Homo sapiens	IEA	involved_in	positive regulation of angiogenesis	Process	-
36	Homo sapiens	ISS	involved_in	positive regulation of receptor-mediated endocytosis	Process	-
37	Homo sapiens	ISS	involved_in	positive regulation of phagocytosis, engulfment	Process	-
38	Homo sapiens	HDA	located_in	extracellular exosome	Component	21362503 23533145
39	Homo sapiens	HDA	located_in	blood microparticle	Component	22516433
40	Homo sapiens	ISS	involved_in	amyloid-beta clearance	Process	-
41	Homo sapiens	IEA	involved_in	complement-dependent cytotoxicity	Process	-
42	Homo sapiens	ISS	involved_in	complement-mediated synapse pruning	Process	-
43	Homo sapiens	ISS	involved_in	vertebrate eye-specific patterning	Process	-
44	Homo sapiens	IMP	involved_in	positive regulation of apoptotic cell clearance	Process	19302245