Basic Information

C3

Full name: complement C3

Gene type: protein coding

HGNC ID: HGNC:1318

Gene location: 19p13.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/718

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:1318

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000064.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P01024

AlphaFold: https://alphafold.ebi.ac.uk/entry/P01024

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/120700

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=718

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04080+718

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
C3 AMD Missense Variant rs2230199 G>A / G>C / G>T chr19:6718376 (GRCh38.p13)
C3 N/A rs171094 G>A / G>C / G>T chr19:6727354 (GRCh38.p13)
C3 AMD vs PCV Intron Variant rs2241394 G>C chr19:6685219 (GRCh38.p13)
C3 Familial AMD Missense Variant rs1047286 G>A / G>C chr19:6713251 (GRCh38.p13)
C3 Advanced AMD Missense Variant rs147859257 T>G chr19:6718135 (GRCh38.p13)
C3 AMD Hyperreflective Foci（+）vs（-） Intron Variant rs433594 A>C / A>G / A>T chr19:6702031 (GRCh38.p13)
C3 Intron Variant rs2250656 T>C chr19:6718523 (GRCh38.p13)
C3 Synonymous Variant rs2230205 C>T chr19:6709693 (GRCh38.p13)
C3 Intron Variant rs11569429 C>T chr19:6709063 (GRCh38.p13)
C3 Intron Variant rs11672613 T>A / T>C chr19:6705235 (GRCh38.p13)
C3 Synonymous Variant rs428453 C>G / C>T chr19:6702146 (GRCh38.p13)
C3 Intron Variant rs432001 A>G chr19:6693672 (GRCh38.p13)
C3 Intron Variant rs7257062 C>A / C>G / C>T chr19:6685934 (GRCh38.p13)
C3 Intron Variant rs2241393 G>A / G>C / G>T chr19:6685293 (GRCh38.p13)
C3 Intron Variant rs1389623 G>A chr19:6684186 (GRCh38.p13)
C3 Synonymous Variant rs7951 G>A chr19:6681980 (GRCh38.p13)
C3 Intron Variant rs344555 T>C chr19:6679349 (GRCh38.p13)
C3 Intron Variant rs11569562 A>G / A>T chr19:6678742 (GRCh38.p13)
C3 AMD Synonymous Variant rs2230203 G>C / G>T chr19:6710771 (GRCh38.p13)
C3 Synonymous Variant rs2230204 C>G / C>T chr19:6709837 (GRCh38.p13)
C3 Intron Variant rs2287846 C>A / C>G / C>T chr19:6696546 (GRCh38.p13)
C3 Intron Variant rs344542 A>C / A>G chr19:6687506 (GRCh38.p13)
C3 Intron Variant rs344550 C>G chr19:6682942 (GRCh38.p13)
C3 Intron Variant rs2277984 C>T chr19:6679500 (GRCh38.p13)
C3 nAMD Intron Variant rs10411506 G>A chr19:6710937 (GRCh38.p13)
C3 nAMD 2KB Upstream Variant rs339392 G>C / G>T chr19:6722011 (GRCh38.p13)
C3 nAMD 2KB Upstream Variant rs163913 C>A / C>G / C>T chr19:6722624 (GRCh38.p13)
C3 AMD Intron Variant rs11569536 G>A chr19:6686078 (GRCh38.p13)
C3 AMD Intron Variant rs3745565 C>G chr19:6690971 (GRCh38.p13)
C3 AMD Synonymous Variant rs423490 A>C / A>G / A>T chr19:6697395 (GRCh38.p13)
C3 AMD Missense Variant rs117793540 G>A chr19:6707118 (GRCh38.p13)
C3 AMD Missense Variant rs2230210 T>C / T>G chr19:6678019 (GRCh38.p13)
C3 AMD rs4151667