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Aliases for PCSK9 Gene

Aliases for PCSK9 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 9 2 3 5
  • Subtilisin/Kexin-Like Protease PC9 3 4
  • NARC-1 3 4
  • NARC1 3 4
  • PC9 3 4
  • Convertase Subtilisin/Kexin Type 9 Preproprotein 3
  • Hypercholesterolemia, Autosomal Dominant 3 2
  • Neural Apoptosis Regulated Convertase 1 3
  • Neural Apoptosis-Regulated Convertase 1 4
  • Proprotein Convertase 9 4
  • EC 3.4.21.111 58
  • EC 3.4.21.- 4
  • EC 3.4.21 58
  • HCHOLA3 3
  • LDLCQ1 3
  • FH3 3

External Ids for PCSK9 Gene

Previous HGNC Symbols for PCSK9 Gene

  • HCHOLA3

Previous GeneCards Identifiers for PCSK9 Gene

  • GC01P054862
  • GC01P054875
  • GC01P055217
  • GC01P055277
  • GC01P055505
  • GC01P053618

Summaries for PCSK9 Gene

Entrez Gene Summary for PCSK9 Gene

  • This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

GeneCards Summary for PCSK9 Gene

PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) is a Protein Coding gene. Diseases associated with PCSK9 include Hypercholesterolemia, Familial, 3 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Proprotein convertase subtilisin/kexin type 9 (PCSK9) mediated LDL receptor degradation and Metabolism. GO annotations related to this gene include poly(A) RNA binding and protein self-association.

UniProtKB/Swiss-Prot for PCSK9 Gene

  • Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments (PubMed:18039658). Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to the cell surface or direct it to lysosomes for degradation. Can induce ubiquitination of LDLR leading to its subsequent degradation (PubMed:18799458, PubMed:17461796, PubMed:18197702, PubMed:22074827). Inhibits intracellular degradation of APOB via the autophagosome/lysosome pathway in a LDLR-independent manner. Involved in the disposal of non-acetylated intermediates of BACE1 in the early secretory pathway (PubMed:18660751). Inhibits epithelial Na(+) channel (ENaC)-mediated Na(+) absorption by reducing ENaC surface expression primarily by increasing its proteasomal degradation. Regulates neuronal apoptosis via modulation of LRP8/APOER2 levels and related anti-apoptotic signaling pathways.

Gene Wiki entry for PCSK9 Gene

Additional gene information for PCSK9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCSK9 Gene

Genomics for PCSK9 Gene

Regulatory Elements for PCSK9 Gene

Enhancers for PCSK9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H055021 1.2 Ensembl ENCODE 22.2 -17.3 -17282 1 HDGF ATF1 ZNF2 ZNF121 GTF3C2 ZNF143 ATF7 DEK REST MIER2 PCSK9 TMEM61 CYB5RL GC01M055004 PIR32788
GH01H055054 0.5 ENCODE 6.5 +15.8 15796 1 ZNF10 CEBPB HNF4A PCSK9 USP24 GC01P055065
GH01H055038 1.5 FANTOM5 Ensembl ENCODE 0.7 +0.5 523 2 PKNOX1 ATF1 ARID4B DMAP1 BRCA1 YY1 GATA2 ATF7 SP5 ZHX2 TMEM61 PCSK9 GC01P055065
GH01H055065 0.9 Ensembl ENCODE 0.3 +25.6 25643 0 FOXA2 FOXA1 NR2F2 JUND POLR2A HNF4G ATF7 HNF4A GC01P055065 PCSK9
GH01H055064 0.7 Ensembl ENCODE 0.3 +24.9 24879 0 CTCF PRDM10 USP24 GC01P055065 PCSK9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCSK9 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCSK9 Gene

Chromosome:
1
Start:
55,039,476 bp from pter
End:
55,064,853 bp from pter
Size:
25,378 bases
Orientation:
Plus strand

Genomic View for PCSK9 Gene

Genes around PCSK9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCSK9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCSK9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK9 Gene

Proteins for PCSK9 Gene

  • Protein details for PCSK9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBP7-PCSK9_HUMAN
    Recommended name:
    Proprotein convertase subtilisin/kexin type 9
    Protein Accession:
    Q8NBP7
    Secondary Accessions:
    • A8T640
    • C0JYY9
    • Q5PSM5
    • Q5SZQ2

    Protein attributes for PCSK9 Gene

    Size:
    692 amino acids
    Molecular mass:
    74286 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer. Can self-associate to form dimers and higher multimers which may have increased LDLR degrading activity. The precursor protein but not the mature protein may form multimers. Interacts with APOB, VLDLR, LRP8/APOER2 and BACE1. The full length immature form (pro-PCSK9) interacts with SCNN1A, SCNN1B and SCNN1G. The pro-PCSK9 form (via C-terminal domain) interacts with LDLR. Interacts (via the C-terminal domain) with ANXA2 (via repeat Annexin 1); the interaction inhibits the degradation of LDLR (PubMed:18799458).
    SequenceCaution:
    • Sequence=BAC11572.1; Type=Frameshift; Positions=494; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCSK9 Gene

    Alternative splice isoforms for PCSK9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCSK9 Gene

Selected DME Specific Peptides for PCSK9 Gene

Q8NBP7:
  • AHNAFGG
  • DIIGASSDCSTC
  • SGTSQAAAHVAGI
  • RGYLTKILHVFH
  • CVDLFAPG
  • YSPASAP
  • LALKLPHV
  • SQSERTARRLQAQAA
  • PGFLVKMS
  • GPLVVLLPLAGGYSR
  • LPHVDYIEEDS
  • VLNCQGKGTVS
  • EQVTVACE
  • ADEYQPP
  • AWFPEDQ
  • VFAQSIPWNLERI
  • HVLTGCS
  • DYEELVLALRSEE
  • GWTLTGC
  • WWPLPLLLLLL
  • WRLPGTY
  • APGLECKVKEHG
  • PAPQEQVTV
  • LTLAELRQRLI
  • VLTPNLVA
  • ERTARRLQAQAARRGYL
  • CRTVWSAHSGPTR
  • LGAYAVD
  • VEVYLLDTSIQ
  • TCVVRSRDV
  • HREIEGRV
  • MGTRVHCH
  • LRPRGQPNQCVGHREASIHASCC

Post-translational modifications for PCSK9 Gene

  • Cleavage by furin and PCSK5 generates a truncated inactive protein that is unable to induce LDLR degradation.
  • Phosphorylation protects the propeptide against proteolysis.
  • Undergoes autocatalytic cleavage in the endoplasmic reticulum to release the propeptide from the N-terminus and the cleavage of the propeptide is strictly required for its maturation and activation. The cleaved propeptide however remains associated with the catalytic domain through non-covalent interactions, preventing potential substrates from accessing its active site. As a result, it is secreted from cells as a propeptide-containing, enzymatically inactive protein.
  • Glycosylation at posLast=533533
  • Modification sites at PhosphoSitePlus

Other Protein References for PCSK9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PCSK9 (Proprotein Convertase 9/PCSK9)
  • Cell Signaling Technology (CST) Antibodies for PCSK9 (PCSK9)
  • Santa Cruz Biotechnology (SCBT) Antibodies for PCSK9

Assay Products

  • Cloud-Clone Corp. Assay Kits for PCSK9

Domains & Families for PCSK9 Gene

Gene Families for PCSK9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

Q8NBP7

UniProtKB/Swiss-Prot:

PCSK9_HUMAN :
  • The C-terminal domain (CRD) is essential for the LDLR-binding and degrading activities.
  • Belongs to the peptidase S8 family.
Domain:
  • The C-terminal domain (CRD) is essential for the LDLR-binding and degrading activities.
  • The catalytic domain is responsible for mediating its self-association.
Family:
  • Belongs to the peptidase S8 family.
genes like me logo Genes that share domains with PCSK9: view

Function for PCSK9 Gene

Molecular function for PCSK9 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Its proteolytic activity is autoinhibited by the non-covalent binding of the propeptide to the catalytic domain. Inhibited by EGTA.
UniProtKB/Swiss-Prot Function:
Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments (PubMed:18039658). Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to the cell surface or direct it to lysosomes for degradation. Can induce ubiquitination of LDLR leading to its subsequent degradation (PubMed:18799458, PubMed:17461796, PubMed:18197702, PubMed:22074827). Inhibits intracellular degradation of APOB via the autophagosome/lysosome pathway in a LDLR-independent manner. Involved in the disposal of non-acetylated intermediates of BACE1 in the early secretory pathway (PubMed:18660751). Inhibits epithelial Na(+) channel (ENaC)-mediated Na(+) absorption by reducing ENaC surface expression primarily by increasing its proteasomal degradation. Regulates neuronal apoptosis via modulation of LRP8/APOER2 levels and related anti-apoptotic signaling pathways.

Enzyme Numbers (IUBMB) for PCSK9 Gene

Phenotypes From GWAS Catalog for PCSK9 Gene

Gene Ontology (GO) - Molecular Function for PCSK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0004252 serine-type endopeptidase activity IDA 12552133
GO:0005515 protein binding IPI 17461796
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with PCSK9: view
genes like me logo Genes that share phenotypes with PCSK9: view

Human Phenotype Ontology for PCSK9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCSK9 Gene

MGI Knock Outs for PCSK9:

Animal Model Products

CRISPR Products

miRNA for PCSK9 Gene

miRTarBase miRNAs that target PCSK9

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PCSK9
  • Applied Biological Materials Clones for PCSK9
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for PCSK9 Gene

Localization for PCSK9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK9 Gene

Cytoplasm. Secreted. Endosome. Lysosome. Cell surface. Endoplasmic reticulum. Golgi apparatus. Note=Autocatalytic cleavage is required to transport it from the endoplasmic reticulum to the Golgi apparatus and for the secretion of the mature protein. Localizes to the endoplasmic reticulum in the absence of LDLR and colocalizes to the cell surface and to the endosomes/lysosomes in the presence of LDLR. The sorting to the cell surface and endosomes is required in order to fully promote LDLR degradation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCSK9 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
lysosome 5
golgi apparatus 5
endosome 5
cytoskeleton 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for PCSK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,IEA 12552133
GO:0005737 cytoplasm IEA,IDA 22580899
GO:0005764 lysosome IEA,IDA 17461796
GO:0005765 lysosomal membrane TAS --
genes like me logo Genes that share ontologies with PCSK9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCSK9 Gene

Pathways & Interactions for PCSK9 Gene

genes like me logo Genes that share pathways with PCSK9: view

Gene Ontology (GO) - Biological Process for PCSK9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development ISS 12552133
GO:0001889 liver development IEA,ISS 12552133
GO:0001920 negative regulation of receptor recycling IDA 17452316
GO:0002092 positive regulation of receptor internalization IDA 17328821
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with PCSK9: view

No data available for SIGNOR curated interactions for PCSK9 Gene

Drugs & Compounds for PCSK9 Gene

(40) Drugs for PCSK9 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
alirocumab Approved Pharma Target, inhibitor 0
evolocumab Approved Pharma Enzyme, inhibitor 0
Lomitapide Approved Pharma 0
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1357
Nitric Oxide Approved Pharma 631

(4) Additional Compounds for PCSK9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for PCSK9 Gene

Compound Action Cas Number
SBC-115076 Anti-PCSK9 compound 489415-96-5
genes like me logo Genes that share compounds with PCSK9: view

Drug Products

Transcripts for PCSK9 Gene

mRNA/cDNA for PCSK9 Gene

Unigene Clusters for PCSK9 Gene

Proprotein convertase subtilisin/kexin type 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PCSK9
  • Applied Biological Materials Clones for PCSK9
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK9 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2: - -
SP3: -
SP4: - -

Relevant External Links for PCSK9 Gene

GeneLoc Exon Structure for
PCSK9
ECgene alternative splicing isoforms for
PCSK9

Expression for PCSK9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCSK9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCSK9 Gene

This gene is overexpressed in Liver (x18.8), Brain - Cerebellar Hemisphere (x6.1), and Brain - Cerebellum (x5.6).

Protein differential expression in normal tissues from HIPED for PCSK9 Gene

This gene is overexpressed in Serum (61.4) and Plasma (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCSK9 Gene



Protein tissue co-expression partners for PCSK9 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCSK9 Gene:

PCSK9

SOURCE GeneReport for Unigene cluster for PCSK9 Gene:

Hs.18844

mRNA Expression by UniProt/SwissProt for PCSK9 Gene:

Q8NBP7-PCSK9_HUMAN
Tissue specificity: Expressed in neuro-epithelioma, colon carcinoma, hepatic and pancreatic cell lines, and in Schwann cells.

Evidence on tissue expression from TISSUES for PCSK9 Gene

  • Nervous system(4.5)
  • Blood(2.9)
  • Liver(2.8)
  • Lung(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCSK9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • liver
  • small intestine
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PCSK9: view

Primer Products

Orthologs for PCSK9 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PCSK9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCSK9 33 34
  • 99.13 (n)
rat
(Rattus norvegicus)
Mammalia Pcsk9 33
  • 81 (n)
mouse
(Mus musculus)
Mammalia Pcsk9 33 16 34
  • 80.84 (n)
dog
(Canis familiaris)
Mammalia PCSK9 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCSK9 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCSK9 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCSK9 33 34
  • 68.98 (n)
lizard
(Anolis carolinensis)
Reptilia PCSK9 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk9 33
  • 62.57 (n)
zebrafish
(Danio rerio)
Actinopterygii pcsk9 33 34
  • 59.57 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YSP3 33 34 36
  • 42.52 (n)
RRT12 34
  • 26 (a)
OneToMany
PRB1 34
  • 20 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes psp3 33
  • 45.03 (n)
Species where no ortholog for PCSK9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCSK9 Gene

ENSEMBL:
Gene Tree for PCSK9 (if available)
TreeFam:
Gene Tree for PCSK9 (if available)

Paralogs for PCSK9 Gene

No data available for Paralogs for PCSK9 Gene

Variants for PCSK9 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK9 Gene

PCSK9_HUMAN-Q8NBP7
Genetic variations in PCSK9 define the low density lipoprotein cholesterol level quantitative trait locus 1 (LDLCQ1) [MIM:603776].
PCSK9_HUMAN-Q8NBP7
Variant Leu-23 ins polymorphism in PCSK9 might have a modifier effect on LDLR mutation and familial hypercholesterolemia.

Sequence variations from dbSNP and Humsavar for PCSK9 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs137852912 Pathogenic, Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] 55,057,454(+) CCAGC(A/C/G/T)ACTGC nc-transcript-variant, reference, missense
rs28942111 Pathogenic, Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] 55,044,016(+) ATGAG(A/T)GGCGA intron-variant, reference, missense
rs28942112 Pathogenic, Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] 55,052,400(+) CCCGC(C/T)TCCAC nc-transcript-variant, reference, missense
rs370507566 Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] 55,057,404(+) TGGCC(A/G/T)CTGTG nc-transcript-variant, reference, missense
rs374603772 other, Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] 55,058,630(+) AGCGG(C/T)GGGGC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PCSK9 Gene

Variant ID Type Subtype PubMed ID
esv3586108 CNV loss 21293372
nsv517995 CNV loss 19592680
nsv518539 CNV loss 19592680
nsv518638 CNV loss 19592680
nsv527129 CNV loss 19592680
nsv527707 CNV loss 19592680
nsv546301 CNV gain 21841781
nsv546302 CNV loss 21841781
nsv817614 CNV gain 22305530

Variation tolerance for PCSK9 Gene

Residual Variation Intolerance Score: 98.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.39; 71.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCSK9 Gene

Human Gene Mutation Database (HGMD)
PCSK9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCSK9

Disorders for PCSK9 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PCSK9 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypercholesterolemia, familial, 3
  • low density lipoprotein cholesterol level qtl 1
homozygous familial hypercholesterolemia
  • hofh
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
pcsk9-related familial hypercholesterolemia, autosomal dominant
  • familial hypercholesterolemia, autosomal dominant, 3
hypercholesterolemia, familial, autosomal recessive
  • autosomal recessive hypercholesterolemia
- elite association - COSMIC cancer census association via MalaCards
Search PCSK9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCSK9_HUMAN
  • Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776]: A familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins. {ECO:0000269 PubMed:12730697, ECO:0000269 PubMed:18799458, ECO:0000269 PubMed:24808179}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PCSK9

Genetic Association Database (GAD)
PCSK9
Human Genome Epidemiology (HuGE) Navigator
PCSK9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCSK9
genes like me logo Genes that share disorders with PCSK9: view

No data available for Genatlas for PCSK9 Gene

Publications for PCSK9 Gene

  1. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. (PMID: 19319977) Abifadel M … Boileau C (Human mutation 2009) 3 4 22 45 60
  2. A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. (PMID: 16465619) Kotowski IK … Hobbs HH (American journal of human genetics 2006) 3 4 22 45 60
  3. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. (PMID: 12552133) Seidah NG … Chretien M (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4 22 60
  4. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. (PMID: 12730697) Abifadel M … Boileau C (Nature genetics 2003) 2 3 4 22 60
  5. Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes. (PMID: 19917273) Strøm TB … Leren TP (Clinica chimica acta; international journal of clinical chemistry 2010) 3 22 45 60

Products for PCSK9 Gene

  • Addgene plasmids for PCSK9

Sources for PCSK9 Gene

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