Basic Information

CYP4F2

Full name: cytochrome P450 family 4 subfamily F member 2

Gene type: protein coding

HGNC ID: HGNC:2645

Gene location: 19p13.12

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/8529

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:2645

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001082.5

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P78329

AlphaFold: https://alphafold.ebi.ac.uk/entry/P78329

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/604426

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=8529

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa00590+8529

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
CYP4F2	Exudative AMD	Missense Variant	rs2108622	C>G / C>T	chr19:15879621 (GRCh38.p13)
CYP4F2	Atrophic AMD	Intron Variant	rs1558139	G>A	chr19:15886754 (GRCh38.p13)