Basic Information

C2

Full name: complement C2

Gene type: protein coding

HGNC ID: HGNC:1248

Gene location: 6p21.33

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/717

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:1248

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000063.6

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P06681

AlphaFold: https://alphafold.ebi.ac.uk/entry/P06681

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/613927

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=717

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04610+717

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
C2	AMD	Missense Variant	rs9332739	G>A / G>C	chr6:31936027 (GRCh38.p13)
C2		Intron Variant	rs547154	G>T	chr6:31943161 (GRCh38.p13)
C2	AMD	Intron Variant	rs9380272	G>A	chr6:31938233 (GRCh38.p13)
C2	excudative AMD	Missense Variant	rs45476300	G>A / G>T	chr6:31943489 (GRCh38.p13)
C2	nAMD	Intron Variant	rs2734335	G>A	chr6:31926167 (GRCh38.p13)