Basic Information

FBN2

Full name: gene with protein product

Gene type: protein coding

HGNC ID: HGNC:3604

Gene location: 5q23.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/2201

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:3604

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001999.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P35556

AlphaFold: https://alphafold.ebi.ac.uk/entry/P35556

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/612570

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=2201

Pathway resources

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
FBN2	AMD	Missense Variant	rs154001	C>G / C>T	chr5:128349443 (GRCh38.p13)