Gene table of PCSK9 : proprotein convertase subtilisin/kexin type 9

Gene-disease associations table

Disease IDDisease nameSource of annotation with PCSK9OMIM linkNumber of associated genesgenes
143890HYPERCHOLESTEROLEMIA, FAMILIALClinVar link to OMIM 10APOA2, ITIH4, EPHX2, PCSK9, STAP1, PPP1R17, ABCA1, APOB, LDLR, GHR
603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3ClinVar, OMIM, HUMSAVAR link to OMIM 1PCSK9

Download the gene annotation in CSV format

Annotation of the gene PCSK9

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
serine-type endopeptidase activityGO:00042524.4
endopeptidase activityGO:00041753.63
low-density lipoprotein particle receptor bindingGO:00507506.91
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
peptidase activityGO:00082333.23
molecular function regulatorGO:00987722.51
heterocyclic compound bindingGO:19013631.06
apolipoprotein receptor bindingGO:00341907.79
sodium channel inhibitor activityGO:00198718.13
receptor regulator activityGO:00305455.91
receptor inhibitor activityGO:00305477.17
channel inhibitor activityGO:00162486.13
channel regulator activityGO:00162474.88
serine-type peptidase activityGO:00082364.27
poly(A) RNA bindingGO:00448222.69
hydrolase activityGO:00167871.9
serine hydrolase activityGO:00171714.26
lipoprotein particle receptor bindingGO:00703256.65
very-low-density lipoprotein particle receptor bindingGO:00703268.35
very-low-density lipoprotein particle bindingGO:00341899.05
ion channel inhibitor activityGO:00082006.15
apolipoprotein bindingGO:00341856.97
protein self-associationGO:00436215.93
low-density lipoprotein particle bindingGO:00301697.03
lipoprotein particle bindingGO:00718136.56
protein-lipid complex bindingGO:00718146.56
catalytic activityGO:00038241.05
organic cyclic compound bindingGO:00971591.05
sodium channel regulator activityGO:00170806.3
peptidase activity, acting on L-amino acid peptidesGO:00700113.26
RNA bindingGO:00037232.36
protein bindingGO:00055150.46
receptor bindingGO:00051022.43