Provide a comprehensive cross-database identifier and functional mapping reference for human PCSK9. This should serve as a definitive lookup resource for researchers. ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 1: GENE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Provide ALL gene-level database identifiers: - HGNC ID and approved symbol - Ensembl gene ID (ENSG) - NCBI Entrez Gene ID - OMIM gene/locus ID - Genomic location: chromosome, start position, end position, strand ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 2: TRANSCRIPT IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL transcript-level identifiers: - Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.) How many total transcripts? - RefSeq transcripts: ALL NM_ mRNA accessions Mark which is MANE Select (canonical clinical standard) - CCDS IDs: ALL consensus coding sequence identifiers For the CANONICAL/MANE SELECT transcript: - List ALL exon IDs (ENSE) with genomic coordinates - Total exon count ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 3: PROTEIN IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL protein-level identifiers: - UniProt accessions: ALL entries (reviewed and unreviewed) Mark the canonical reviewed entry - RefSeq protein: ALL NP_ accessions Protein domains and families: - List ALL annotated domains/families with identifiers - Include: domain name, type (domain/family/superfamily), and ID ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 4: STRUCTURE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Experimental structures: - List ALL PDB structure IDs - For each: experimental method (X-ray, NMR, Cryo-EM) and resolution - Total PDB structure count Predicted structures: - AlphaFold model ID and confidence metrics (pLDDT) ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 5: CROSS-SPECIES ORTHOLOGS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List orthologous genes in key model organisms (where available): - Mouse (Mus musculus): gene ID, symbol - Rat (Rattus norvegicus): gene ID, symbol - Zebrafish (Danio rerio): gene ID, symbol - Fruit fly (Drosophila melanogaster): gene ID, symbol - Worm (C. elegans): gene ID, symbol - Yeast (S. cerevisiae): gene ID, symbol ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Clinical variant annotations: - Total variant count in clinical databases - Breakdown by classification: Pathogenic, Likely Pathogenic, Uncertain Significance (VUS), Likely Benign, Benign - List TOP 50 pathogenic/likely pathogenic variants with: variant ID, HGVS notation, associated condition AI-based variant effect predictions: - Splice effect predictions: Total count List TOP 50 predicted splice-altering variants with delta scores - Missense pathogenicity predictions: Total count List TOP 50 predicted pathogenic missense variants with scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Pathway membership: - List ALL biological pathways this gene participates in - Include pathway IDs and names - Total pathway count Gene Ontology annotations: - Biological Process: count and TOP 20 terms with IDs - Molecular Function: count and TOP 20 terms with IDs - Cellular Component: count and TOP 20 terms with IDs ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Protein-protein interactions: - Total interaction count - List TOP 50 highest-confidence interacting proteins with scores Protein similarity (evolutionary and structural): - Structural/embedding similarity: How many similar proteins? List TOP 20 with similarity scores - Sequence homology: How many homologous proteins? List TOP 20 with identity/similarity scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene encodes a transcription factor: Downstream targets (genes regulated BY this TF): - Total target gene count - List TOP 50 target genes with regulation type (activates/represses) DNA binding profiles: - List ALL known binding motif IDs - Motif family classification Upstream regulators (TFs that regulate THIS gene): - List known transcriptional regulators with evidence type ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 10: DRUG & PHARMACOLOGY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene/protein is a drug target: Targeting molecules: - How many drug/compound molecules target this protein? - List TOP 30 molecules by development phase - Include: molecule ID, name, mechanism, highest development phase Clinical trials: - How many clinical trials involve drugs targeting this gene? - List TOP 20 trials with: trial ID, phase, status, intervention Pharmacogenomics: - Known drug-gene interactions affecting drug response - Dosing guidelines if any exist ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 11: EXPRESSION PROFILES ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Tissue expression: - Which tissues express this gene most highly? - List TOP 30 tissues with expression scores/levels - Note any tissue-specific or tissue-enriched patterns Cell type expression: - Which cell types show highest expression? - List TOP 30 cell types with expression scores - Note any cell type-specific patterns Single-cell expression data (if available): - Which single-cell datasets/experiments include this gene? - Notable cell population patterns ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 12: DISEASE ASSOCIATIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Mendelian/monogenic disease links: - What diseases are caused by mutations in this gene? - List ALL associated diseases with: disease name, disease ID, inheritance pattern, evidence level Phenotype associations: - What clinical phenotypes are associated with this gene? - List TOP 50 phenotype terms with IDs Complex trait associations (GWAS): - What traits/diseases are linked via genome-wide association studies? - List TOP 30 GWAS associations with: trait, study ID, p-value, effect size if available ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ FORMATTING REQUIREMENTS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ - Present each section with clear headers - Use tables for listing multiple items - Always include COUNTS for every category - For lists with 50 items: show total count + TOP 50 - For lists with

Question

Provide a comprehensive cross-database identifier and functional mapping
reference for human PCSK9. This should serve as a definitive
lookup resource for researchers.

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 1: GENE IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Provide ALL gene-level database identifiers:
- HGNC ID and approved symbol
- Ensembl gene ID (ENSG)
- NCBI Entrez Gene ID
- OMIM gene/locus ID
- Genomic location: chromosome, start position, end position, strand

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 2: TRANSCRIPT IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List ALL transcript-level identifiers:
- Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.)
  How many total transcripts?
- RefSeq transcripts: ALL NM_ mRNA accessions
  Mark which is MANE Select (canonical clinical standard)
- CCDS IDs: ALL consensus coding sequence identifiers

For the CANONICAL/MANE SELECT transcript:
- List ALL exon IDs (ENSE) with genomic coordinates
- Total exon count

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 3: PROTEIN IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List ALL protein-level identifiers:
- UniProt accessions: ALL entries (reviewed and unreviewed)
  Mark the canonical reviewed entry
- RefSeq protein: ALL NP_ accessions

Protein domains and families:
- List ALL annotated domains/families with identifiers
- Include: domain name, type (domain/family/superfamily), and ID

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 4: STRUCTURE IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Experimental structures:
- List ALL PDB structure IDs
- For each: experimental method (X-ray, NMR, Cryo-EM) and resolution
- Total PDB structure count

Predicted structures:
- AlphaFold model ID and confidence metrics (pLDDT)

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 5: CROSS-SPECIES ORTHOLOGS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List orthologous genes in key model organisms (where available):
- Mouse (Mus musculus): gene ID, symbol
- Rat (Rattus norvegicus): gene ID, symbol
- Zebrafish (Danio rerio): gene ID, symbol
- Fruit fly (Drosophila melanogaster): gene ID, symbol
- Worm (C. elegans): gene ID, symbol
- Yeast (S. cerevisiae): gene ID, symbol

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Clinical variant annotations:
- Total variant count in clinical databases
- Breakdown by classification: Pathogenic, Likely Pathogenic,
  Uncertain Significance (VUS), Likely Benign, Benign
- List TOP 50 pathogenic/likely pathogenic variants with:
  variant ID, HGVS notation, associated condition

AI-based variant effect predictions:
- Splice effect predictions: Total count
  List TOP 50 predicted splice-altering variants with delta scores
- Missense pathogenicity predictions: Total count
  List TOP 50 predicted pathogenic missense variants with scores

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Pathway membership:
- List ALL biological pathways this gene participates in
- Include pathway IDs and names
- Total pathway count

Gene Ontology annotations:
- Biological Process: count and TOP 20 terms with IDs
- Molecular Function: count and TOP 20 terms with IDs
- Cellular Component: count and TOP 20 terms with IDs

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Protein-protein interactions:
- Total interaction count
- List TOP 50 highest-confidence interacting proteins with scores

Protein similarity (evolutionary and structural):
- Structural/embedding similarity: How many similar proteins?
  List TOP 20 with similarity scores
- Sequence homology: How many homologous proteins?
  List TOP 20 with identity/similarity scores

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
If this gene encodes a transcription factor:

Downstream targets (genes regulated BY this TF):
- Total target gene count
- List TOP 50 target genes with regulation type (activates/represses)

DNA binding profiles:
- List ALL known binding motif IDs
- Motif family classification

Upstream regulators (TFs that regulate THIS gene):
- List known transcriptional regulators with evidence type

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 10: DRUG & PHARMACOLOGY DATA
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
If this gene/protein is a drug target:

Targeting molecules:
- How many drug/compound molecules target this protein?
- List TOP 30 molecules by development phase
- Include: molecule ID, name, mechanism, highest development phase

Clinical trials:
- How many clinical trials involve drugs targeting this gene?
- List TOP 20 trials with: trial ID, phase, status, intervention

Pharmacogenomics:
- Known drug-gene interactions affecting drug response
- Dosing guidelines if any exist

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 11: EXPRESSION PROFILES
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Tissue expression:
- Which tissues express this gene most highly?
- List TOP 30 tissues with expression scores/levels
- Note any tissue-specific or tissue-enriched patterns

Cell type expression:
- Which cell types show highest expression?
- List TOP 30 cell types with expression scores
- Note any cell type-specific patterns

Single-cell expression data (if available):
- Which single-cell datasets/experiments include this gene?
- Notable cell population patterns

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 12: DISEASE ASSOCIATIONS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Mendelian/monogenic disease links:
- What diseases are caused by mutations in this gene?
- List ALL associated diseases with: disease name, disease ID,
  inheritance pattern, evidence level

Phenotype associations:
- What clinical phenotypes are associated with this gene?
- List TOP 50 phenotype terms with IDs

Complex trait associations (GWAS):
- What traits/diseases are linked via genome-wide association studies?
- List TOP 30 GWAS associations with: trait, study ID, p-value,
  effect size if available

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
FORMATTING REQUIREMENTS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
- Present each section with clear headers
- Use tables for listing multiple items
- Always include COUNTS for every category
- For lists with >50 items: show total count + TOP 50
- For lists with <50 items: show ALL items
- Always include database identifiers (IDs), not just names
- Mark canonical/primary/reviewed entries where applicable
- If a section has no data available, state "No data available"
  rather than omitting the section

Accepted Answer

PCSK9 - Comprehensive Cross-Database Identifier and Functional Mapping Reference Human PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9)
Section 1: Gene Identifiers
DatabaseIdentifierNotes HGNC IDHGNC:20001Approved HGNC SymbolPCSK9Approved symbol Full NameProprotein convertase subtilisin/kexin type 9 Ensembl GeneENSG00000169174 NCBI Entrez Gene255738 OMIM607786Gene/locus Gene TypeProtein-coding gene Genomic Location (GRCh38): AttributeValue Chromosome1 Cytogenetic Band1p32.3 Start …

Attribute	Value
Chromosome	1
Cytogenetic Band	1p32.3
Start Position	55,039,445
End Position	55,064,852
Strand	+ (forward)
Genomic Accession	NC_000001.11

Transcript ID	Biotype	Start	End	Strand
ENST00000302118	protein_coding	55039548	55064852	+
ENST00000490692	retained_intron	55050934	55064850	+
ENST00000673662	protein_coding_CDS_not_defined	55043966	55047332	+
ENST00000673726	nonsense_mediated_decay	55039447	55064852	+
ENST00000673903	protein_coding	55040295	55064797	+
ENST00000673913	nonsense_mediated_decay	55039462	55064852	+
ENST00000710286	protein_coding	55039456	55064852	+
ENST00000713785	nonsense_mediated_decay	55039445	55064852	+
ENST00000713786	protein_coding	55039468	55064852	+
ENST00000713787	nonsense_mediated_decay	55039550	55064852	+
ENST00000854983	protein_coding	55039548	55064852	+
ENST00000923576	protein_coding	55039538	55064849	+

RefSeq ID	Type	Status	MANE Select
NM_174936	mRNA	REVIEWED	✓ Yes (Canonical)
NM_001407240	mRNA	REVIEWED	No
NM_001407241	mRNA	REVIEWED	No
NM_001407242	mRNA	REVIEWED	No
NM_001407243	mRNA	REVIEWED	No
NM_001407244	mRNA	REVIEWED	No
NM_001407245	mRNA	REVIEWED	No
NM_001407246	mRNA	REVIEWED	No
NM_001407247	mRNA	REVIEWED	No

Exon ID	Start	End	Strand
ENSE00004021261	55039548	55040044	+
ENSE00001279167	55043843	55044034	+
ENSE00001279161	55046523	55046646	+
ENSE00004021268	55052278	55052411	+
ENSE00004021270	55052650	55052791	+
ENSE00004021269	55055993	55056189	+
ENSE00004021262	55057331	55057514	+
ENSE00004021266	55058036	55058209	+
ENSE00004021274	55058499	55058647	+
ENSE00004021273	55059486	55059663	+
ENSE00004021265	55061375	55061556	+
ENSE00004021264	55063369	55064852	+

UniProt ID	Status	Notes
Q8NBP7	Reviewed	✓ Canonical (Swiss-Prot)
A0A669KAY4	Unreviewed	TrEMBL
A0A669KB81	Unreviewed	TrEMBL
A0A669KBG0	Unreviewed	TrEMBL
A0AA34QVH0	Unreviewed	TrEMBL
A0AAQ5BGU8	Unreviewed	TrEMBL
A0AAQ5BGX4	Unreviewed	TrEMBL
A0AAQ5BGZ8	Unreviewed	TrEMBL

PCSK9 Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Notes
HGNC ID	HGNC:20001	Approved
HGNC Symbol	PCSK9	Approved symbol
Full Name	Proprotein convertase subtilisin/kexin type 9
Ensembl Gene	ENSG00000169174
NCBI Entrez Gene	255738
OMIM	607786	Gene/locus
Gene Type	Protein-coding gene

Property	Value
Length	692 amino acids
Mass	74,286 Da
Alternative Names	Neural apoptosis-regulated convertase 1, Proprotein convertase 9, Subtilisin/kexin-like protease PC9

RefSeq ID	Status	MANE Select
NP_777596	REVIEWED	✓ Yes (Canonical)
NP_001394169	REVIEWED	No
NP_001394170	REVIEWED	No
NP_001394171	REVIEWED	No
NP_001394172	REVIEWED	No
NP_001394173	REVIEWED	No
NP_001394174	REVIEWED	No
NP_001394175	REVIEWED	No
NP_001394176	REVIEWED	No

InterPro ID	Name	Type
IPR000209	Peptidase_S8/S53_dom	Domain
IPR010259	S8pro/Inhibitor_I9	Domain
IPR015500	Peptidase_S8_subtilisin-rel	Family
IPR034193	PCSK9_ProteinaseK-like	Domain
IPR036852	Peptidase_S8/S53_dom_sf	Homologous superfamily
IPR037045	S8pro/Inhibitor_I9_sf	Homologous superfamily
IPR041051	PCSK9_C3	Domain
IPR041052	PCSK9_C2	Domain
IPR041254	PCSK9_C1	Domain
IPR050131	Peptidase_S8_subtilisin-like	Family

PDB ID	Title	Method	Resolution (Å)
2P4E	Crystal Structure of PCSK9	X-RAY	1.98
2PMW	Crystal Structure of PCSK9	X-RAY	2.3
2QTW	PCSK9 at 1.9Å Resolution	X-RAY	1.9
2W2M	WT PCSK9-ΔCTD bound to WT EGF-A of LDLR	X-RAY	2.4
2W2N	WT PCSK9-ΔCTD bound to EGF-A H306Y mutant	X-RAY	2.3
2W2O	PCSK9-ΔCTD D374Y mutant bound to WT EGF-A	X-RAY	2.62
2W2P	PCSK9-ΔCTD D374A mutant bound to EGF-A	X-RAY	2.62
2W2Q	PCSK9-ΔCTD D374H mutant bound to EGF-A	X-RAY	2.33
2XTJ	PCSK9 complex with 1D05 Fab	X-RAY	2.7
3BPS	PCSK9:EGF-A complex	X-RAY	2.41
3GCW	PCSK9:EGFA(H306Y)	X-RAY	2.7
3GCX	PCSK9:EGFA (pH 7.4)	X-RAY	2.7
3H42	PCSK9 complex with competitive antibody Fab	X-RAY	2.3
3M0C	PCSK9 complex with LDL receptor	X-RAY	7.01
3P5B	LDLR/PCSK9 complex	X-RAY	3.3
3P5C	LDLR/PCSK9 complex	X-RAY	4.2
3SQO	PCSK9 J16 Fab complex	X-RAY	2.7
4K8R	Anti-PCSK9 antibody (C-terminal)	X-RAY	3.22
4NE9	PCSK9 with LDLR peptide	X-RAY	2.6
4NMX	PCSK9 with inhibitory peptide	X-RAY	1.85
4OV6	PCSK9 with Adnectin	X-RAY	2.69
6U26	PCSK9 with compound 16	X-RAY	1.53
6XIB	PCSK9 with cyclic peptide 30	X-RAY	1.55
6XIC	PCSK9 with cyclic peptide 40	X-RAY	1.38
6XID	PCSK9 with cyclic peptide 51	X-RAY	1.48
6XIE	PCSK9 with cyclic peptide 77	X-RAY	1.43
6XIF	PCSK9 with cyclic peptide 83	X-RAY	1.77
7ANQ	PCSK9 C-ter with VHH P1.40	X-RAY	2.2
7KEV	PCSK9 with cyclic peptide LDLR disruptor	X-RAY	2.8
7S5H	PCSK9 with cyclic peptide 35	X-RAY	1.27
8WFR	PCSK9 (Biortus)	X-RAY	1.95
6OLZ	Human ribosome nascent chain complex (PCSK9-RNC)	Cryo-EM	3.9
6OM0	Human ribosome nascent chain complex (PCSK9-RNC)	Cryo-EM	3.1
6OM7	Human ribosome nascent chain complex (PCSK9-RNC)	Cryo-EM	3.7

Species	Ensembl Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000044254	Pcsk9	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000006280	Pcsk9	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000074185	pcsk9	protein_coding
Fruit fly (Drosophila melanogaster)	FBGN0004598	Fur2	protein_coding
Worm (C. elegans)	WBGENE00002232	kpc-1	protein_coding
Yeast (S. cerevisiae)	No ortholog	-	-

Classification	Count
Pathogenic	9
Likely Pathogenic	4
Uncertain Significance (VUS)	~100+
Likely Benign	~200+
Benign	Several
Conflicting Classifications	Several

ClinVar ID	HGVS Notation	Type	Review Status
2027927	c.381T>G (p.Ser127Arg)	SNV	criteria provided, single submitter
2874	c.646T>C (p.Phe216Leu)	SNV	no assertion criteria provided
431555	c.42_43insTG (p.Leu15fs)	Insertion	criteria provided, single submitter
440706	c.140C>G (p.Ser47Cys)	SNV	no assertion criteria provided
440712	c.248A>C (p.Lys83Thr)	SNV	no assertion criteria provided
440715	c.323T>C (p.Leu108Pro)	SNV	no assertion criteria provided
440721	c.1402A>G (p.Thr468Ala)	SNV	no assertion criteria provided
440722	c.1411G>T (p.Ala471Ser)	SNV	no assertion criteria provided
440725	c.2005G>C (p.Glu669Gln)	SNV	no assertion criteria provided

ClinVar ID	HGVS Notation	Type
1015123	c.653G>C (p.Arg218Thr)	SNV
1120257	c.1906A>C (p.Ser636Arg)	SNV
4277664	c.399+1G>A	SNV (splice)
438337	c.1061A>T (p.Asn354Ile)	SNV

Variant ID	Effect	Delta Score
1:55040040:CCAAG:C	donor_loss	0.99
1:55040042:AAGGT:A	donor_loss	0.99
1:55040044:GGTG:G	donor_loss	0.99
1:55040045:GT:G	donor_loss	0.99
1:55040013:G:GT	donor_gain	0.98
1:55039982:G:GT	donor_gain	0.95
1:55039985:G:GT	donor_gain	0.91
1:55040141:G:GT	donor_gain	0.89
1:55040045:G:GG	donor_gain	0.87
1:55040199:C:T	donor_gain	0.86
1:55040731:G:T	donor_gain	0.86
1:55040035:C:G	donor_gain	0.83
1:55040014:A:T	donor_gain	0.82
1:55040221:T:TA	donor_gain	0.79
1:55040222:A:AA	donor_gain	0.79
1:55040478:G:GG	donor_gain	0.76
1:55040885:G:GT	donor_gain	0.75
1:55040048:C:T	donor_gain	0.74
1:55040477:A:AG	donor_gain	0.72
1:55040839:C:T	donor_gain	0.72
1:55040885:G:T	donor_gain	0.72
1:55040131:T:G	donor_gain	0.70
1:55040009:C:T	donor_gain	0.67
1:55040043:AG:A	donor_gain	0.63
1:55040044:GG:G	donor_gain	0.63
1:55039997:G:GT	donor_gain	0.62
1:55040727:C:T	donor_gain	0.60
1:55040058:G:T	donor_gain	0.60
1:55039964:C:CG	donor_gain	0.58
1:55040156:TCGCC:T	donor_gain	0.58
1:55040451:C:T	donor_gain	0.57
1:55040398:GCACA:G	donor_loss	0.51

Variant ID	Protein Variant	Score	Classification
1:55046551:T:A	I143N	0.985	likely_pathogenic
1:55046542:T:A	V140D	0.972	likely_pathogenic
1:55044000:T:C	F122S	0.963	likely_pathogenic
1:55043867:T:G	Y78D	0.955	likely_pathogenic
1:55043874:T:A	V80E	0.943	likely_pathogenic
1:55043978:T:C	F115L	0.933	likely_pathogenic
1:55044001:C:A	F122L	0.933	likely_pathogenic
1:55046591:G:C	W156C	0.925	likely_pathogenic
1:55043997:G:A	G121D	0.923	likely_pathogenic
1:55046594:C:A	N157K	0.922	likely_pathogenic
1:55043999:T:C	F122L	0.913	likely_pathogenic
1:55046551:T:G	I143S	0.912	likely_pathogenic
1:55044012:T:A	M126K	0.908	likely_pathogenic
1:55046573:T:A	F150L	0.900	likely_pathogenic
1:55046571:T:C	F150L	0.900	likely_pathogenic
1:55044012:T:G	M126R	0.903	likely_pathogenic
1:55046559:G:T	D146Y	0.898	likely_pathogenic
1:55046524:C:A	A134D	0.892	likely_pathogenic
1:55043979:T:C	F115S	0.889	likely_pathogenic
1:55043867:T:A	Y78N	0.887	likely_pathogenic
1:55043979:T:G	F115C	0.882	likely_pathogenic
1:55046555:G:C	E144D	0.880	likely_pathogenic
1:55043996:G:C	G121R	0.877	likely_pathogenic
1:55044006:T:A	V124E	0.877	likely_pathogenic
1:55046560:A:C	D146A	0.870	likely_pathogenic
1:55046549:T:A	V149D	0.867	likely_pathogenic
1:55046560:A:G	D146G	0.866	likely_pathogenic
1:55046562:T:C	S147P	0.856	likely_pathogenic
1:55043928:T:C	L98P	0.848	likely_pathogenic
1:55046589:T:A	W156R	0.846	likely_pathogenic
1:55046561:C:A	D146E	0.844	likely_pathogenic
1:55043939:G:C	A102P	0.843	likely_pathogenic
1:55044000:T:G	F122C	0.831	likely_pathogenic
1:55046554:A:G	E144G	0.823	likely_pathogenic
1:55046560:A:T	D146V	0.818	likely_pathogenic
1:55044003:T:C	L123P	0.812	likely_pathogenic
1:55046558:G:C	E145D	0.812	likely_pathogenic
1:55044013:G:A	M126I	0.810	likely_pathogenic
1:55043851:G:C	W72C	0.808	likely_pathogenic
1:55043849:T:A	W72R	0.799	likely_pathogenic

Pathway ID	Pathway Name
R-HSA-8964038	LDL clearance
R-HSA-8866427	VLDLR internalisation and degradation
R-HSA-8957275	Post-translational protein phosphorylation
R-HSA-381426	Regulation of IGF transport and uptake by IGFBPs

GO ID	Term Name
GO:0008203	cholesterol metabolic process
GO:0042632	cholesterol homeostasis
GO:0010989	negative regulation of low-density lipoprotein particle clearance
GO:0032802	low-density lipoprotein particle receptor catabolic process
GO:0032805	positive regulation of LDLR catabolic process
GO:1905601	negative regulation of receptor-mediated endocytosis involved in cholesterol transport
GO:0006641	triglyceride metabolic process
GO:0006644	phospholipid metabolic process
GO:0042157	lipoprotein metabolic process
GO:0001822	kidney development
GO:0001889	liver development
GO:0001920	negative regulation of receptor recycling
GO:0002091	negative regulation of receptor internalization
GO:0002092	positive regulation of receptor internalization
GO:0016540	protein autoprocessing
GO:0006915	apoptotic process
GO:0022008	neurogenesis
GO:0030182	neuron differentiation
GO:0043523	regulation of neuron apoptotic process
GO:0043525	positive regulation of neuron apoptotic process
GO:0007041	lysosomal transport
GO:0009267	cellular response to starvation
GO:0032869	cellular response to insulin stimulus
GO:1903783	negative regulation of sodium ion import across plasma membrane

GO ID	Term Name
GO:0004175	endopeptidase activity
GO:0004252	serine-type endopeptidase activity
GO:0050750	low-density lipoprotein particle receptor binding
GO:0030169	low-density lipoprotein particle binding
GO:0034189	very-low-density lipoprotein particle binding
GO:0070326	very-low-density lipoprotein particle receptor binding
GO:0034185	apolipoprotein binding
GO:0034190	apolipoprotein receptor binding
GO:0003723	RNA binding
GO:0019871	sodium channel inhibitor activity
GO:0030547	signaling receptor inhibitor activity
GO:0141110	transporter inhibitor activity

GO ID	Term Name
GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0009986	cell surface
GO:0005886	plasma membrane
GO:0031232	extrinsic component of external side of plasma membrane
GO:0005783	endoplasmic reticulum
GO:0005788	endoplasmic reticulum lumen
GO:0005794	Golgi apparatus
GO:0030134	COPII-coated ER to Golgi transport vesicle
GO:0005764	lysosome
GO:0005765	lysosomal membrane
GO:0036020	endolysosome membrane
GO:0005769	early endosome
GO:0005770	late endosome
GO:0005737	cytoplasm
GO:0048471	perinuclear region of cytoplasm
GO:1990666	PCSK9-LDLR complex
GO:1990667	PCSK9-AnxA2 complex

UniProt ID	Gene	Score	Description
Q8NBP7	PCSK9	986	Self (homodimerization)
P04114	APOB	986	Apolipoprotein B-100
P04035	HMGCR	900	HMG-CoA reductase
Q92824	PCSK5	868	Proprotein convertase subtilisin/kexin type 5
Q99523	SORT1	867	Sortilin
P01133	EGF	827	Epidermal growth factor
P08134	RHOC	823	Rho-related GTP-binding protein RhoC
Q5SW96	LDLRAD3	808	LDLR class A domain-containing 3
Q6PGN9	SLC22A30	804	Solute carrier family 22 member 30
Q9HCU4	CELSR2	798	Cadherin EGF LAG 7-pass G-type receptor 2
Q8WTV0	SCARB1	792	Scavenger receptor class B member 1
Q12772	SREBF2	785	Sterol regulatory element-binding protein 2
P11597	CETP	782	Cholesteryl ester transfer protein
Q9Y5C1	ANGPTL3	771	Angiopoietin-related protein 3
P02647	APOA1	764	Apolipoprotein A-I
P98155	VLDLR	749	VLDL receptor
P16671	CD36	745	Platelet glycoprotein 4
Q14108	SCARB2	734	Lysosome membrane protein 2
Q14703	MBTPS1	728	Membrane-bound transcription factor site-1 protease
P02649	APOE	723	Apolipoprotein E
Q9UHC9	NPC1L1	723	NPC1-like intracellular cholesterol transporter 1
P00533	EGFR	720	Epidermal growth factor receptor
P02768	ALB	702	Serum albumin
P08519	LPA	697	Apolipoprotein(a)
P02656	APOC3	693	Apolipoprotein C-III
P09958	FURIN	686	Furin
Q16549	PCSK7	681	Proprotein convertase subtilisin/kexin type 7
Q9H222	SUSD4	677	Sushi domain-containing protein 4
P55157	MTTP	670	Microsomal triglyceride transfer protein
O60610	DIAPH1	668	Protein diaphanous homolog 1
Q9H221	SUSD3	668	Sushi domain-containing protein 3
O95477	ABCA1	664	ATP-binding cassette sub-family A member 1
Q8WWL2	PCSK6	663	Proprotein convertase subtilisin/kexin type 6
P12821	ACE	651	Angiotensin-converting enzyme
O96001	TBC1D8B	650	TBC1 domain family member 8B
Q8WY64	SIAE	648	Sialate O-acetylesterase
P04626	ERBB2	647	Receptor tyrosine-protein kinase erbB-2
P98194	ATP2C1	646	Calcium-transporting ATPase type 2C member 1
Q6Q788	APOOL	636	Apolipoprotein O-like
Q08AE8	LDLRAD4	626	LDLR class A domain-containing protein 4
Q07869	PPARA	620	Peroxisome proliferator-activated receptor alpha
P36956	SREBF1	619	Sterol regulatory element-binding protein 1
P01308	INS	618	Insulin
P02652	APOA2	614	Apolipoprotein A-II
P02654	APOC1	609	Apolipoprotein C-I
Q07954	LRP1	607	LDL receptor-related protein 1
P29122	PCSK2	599	Neuroendocrine convertase 2
P31749	AKT1	597	RAC-alpha serine/threonine-protein kinase
P11150	LIPC	596	Hepatic triacylglycerol lipase
P01130	LDLR	591	Low-density lipoprotein receptor
P06307	CCK	581	Cholecystokinin

Gene A	Gene B	Interaction Type	Confidence
PCSK9	LDLR	direct interaction	0.68
PCSK9	ANXA2	physical association	0.61
PCSK9	MMP2	cleavage reaction	0.62
FAM20C	PCSK9	phosphorylation reaction	0.44
PCSK9	SEC11C	physical association	0.40

UniProt ID	Top Similarity	Avg Similarity
A8T644	1.0000	0.9809
A8T655	1.0000	0.9809
A8T662	1.0000	0.9815
A8T666	1.0000	0.9815
A8T672	0.9999	0.9816
A8T650	0.9999	0.9808
Q8NBP7	0.9999	0.9809
O14773	0.9999	0.9724
O75173	0.9999	0.9795
Q5IS74	0.9999	0.9726
Q5RFQ8	0.9999	0.9798
A8T658	0.9997	0.9811
A8T677	0.9996	0.9811
A8T682	0.9997	0.9808
A8T688	0.9997	0.9811
A8T695	0.9996	0.9807
A8T6A1	0.9997	0.9809
A8T6A6	0.9997	0.9809
Q61139	0.9996	0.9770
Q62849	0.9996	0.9773

UniProt ID	Top Identity (%)	Top Bitscore
A8T662	99.70	1332
A8T666	99.70	1332
A8T644	99.30	1333
A8T655	99.30	1335
A8T672	99.30	1327
Q8NBP7	99.00	1327
A8T650	98.10	1326
A8T682	97.20	1297
A8T688	97.20	1295
A8T658	97.00	1310
A8T695	96.10	1296
A8T6A1	95.20	1313
A8T6A6	95.20	1321
A8T677	94.90	1267
Q80W65	91.10	1263
P59996	90.90	1259
O53945	49.00	361
Q8SS86	33.90	110

Transcription Factor	Regulation Type	Confidence
SREBF1	Activation	High
SREBF2	Activation	High
HNF1A	Activation	High
HNF4A	Activation	Medium
NR1H4 (FXR)	Repression	Medium
PPARA	Repression	Medium
PPARG	-	High
HINFP	-	High
KAT7	-	Low
TCF3	-	High

Drug	ChEMBL ID	Type	Phase	Trade Name	ATC Code
Evolocumab	CHEMBL2364655	Antibody	4 (Approved)	Repatha	C10AX13
Alirocumab	CHEMBL2109540	Antibody	4 (Approved)	Praluent	C10AX14
Inclisiran	CHEMBL3990033	siRNA (Oligonucleotide)	3 (Phase 3+)	Leqvio	C10AX16

Phase	Status	Count
Phase 4	Various	30+
Phase 3	Completed/Active	40+
Phase 2	Completed	20+
Phase 1	Completed	5+
Observational	Various	Several

NCT ID	Title	Status
NCT02948777	Effects on Postprandial Lipid Metabolism in Type 2 Diabetes	COMPLETED
NCT03096288	Impact on Clopidogrel Effects with High Platelet Reactivity	COMPLETED
NCT03403374	Safety in Indian Patients with HoFH	COMPLETED
NCT03829046	Effects in Patients With Diabetes and Atherosclerotic Disease	COMPLETED
NCT03900026	Effect on Saphenous Vein Graft Patency Post-CABG	COMPLETED
NCT03932721	EXCEED-BHS3: Evolocumab + Empagliflozin in Diabetes	COMPLETED
NCT04710368	Effect on Coronary Plaque Characteristics	COMPLETED

Attribute	Value
PharmGKB ID	PA38617
VIP Gene	Yes (Very Important Pharmacogene)
Has Variant Annotations	Yes
CPIC Guideline	No

Attribute	Value
Expression Breadth	Ubiquitous
Total Present Calls	147
Max Expression Score	91.35

Tissue (UBERON)	Expression Pattern
Liver (UBERON:0002107)	Highest
Right lobe of liver (UBERON:0001114)	High
Small intestine (UBERON:0002108)	High
Duodenum (UBERON:0002114)	High
Ileal mucosa (UBERON:0000331)	High
Colon (UBERON:0001155)	High
Transverse colon (UBERON:0001157)	High
Colonic mucosa (UBERON:0000317)	High
Kidney (UBERON:0002113)	High
Kidney cortex (UBERON:0001225)	High
Pancreas (UBERON:0001264)	Moderate
Islet of Langerhans (UBERON:0000006)	Moderate
Lung (UBERON:0002048)	Moderate
Stomach (UBERON:0000945)	Moderate
Esophagus (UBERON:0001043)	Moderate
Esophagus mucosa (UBERON:0002469)	Moderate
Adrenal gland (UBERON:0002369)	Moderate
Adrenal cortex (UBERON:0001235)	Moderate
Brain (UBERON:0000955)	Low-Moderate
Cerebellum (UBERON:0002037)	Moderate
Cerebellar cortex (UBERON:0002129)	Moderate
Cerebral cortex (UBERON:0000956)	Low
Frontal cortex (UBERON:0001870)	Low
Hypothalamus (UBERON:0001898)	Low
Spleen (UBERON:0002106)	Low
Blood (UBERON:0000178)	Low
Skin (UBERON:0000014)	Low
Adipose tissue (UBERON:0001013)	Low
Bone marrow (UBERON:0002371)	Low
Uterus (UBERON:0000995)	Low

Cell Type (CL)	Notes
Hepatocyte	Primary expression site
Secondary oocyte (CL:0000655)	Detected
Oocyte (CL:0000023)	Detected
Stromal cell of endometrium (CL:0002255)	Detected

Disease	MONDO/OMIM	Classification	Inheritance	Submitter
Hypercholesterolemia, autosomal dominant, 3	MONDO:0011369	Definitive	Autosomal dominant	Ambry Genetics
Hypercholesterolemia, autosomal dominant, 3	OMIM:603776	Strong	Autosomal dominant	Genomics England PanelApp
Hypercholesterolemia, autosomal dominant, 3	OMIM:603776	Strong	Autosomal dominant	Labcorp Genetics
Homozygous familial hypercholesterolemia	ORPHANET:391665	Supportive	Autosomal recessive	Orphanet

HPO ID	Phenotype
HP:0003124	Hypercholesterolemia
HP:0003141	Increased LDL cholesterol concentration
HP:0003077	Hyperlipidemia
HP:0031886	Abnormal LDL cholesterol concentration
HP:0001677	Coronary artery atherosclerosis
HP:0005181	Premature coronary artery atherosclerosis
HP:0004416	Precocious atherosclerosis
HP:0005177	Premature arteriosclerosis
HP:0001658	Myocardial infarction
HP:0001645	Sudden cardiac death
HP:0001681	Angina pectoris
HP:0030882	Coronary artery aneurysm
HP:0000991	Xanthomatosis
HP:0010874	Tendon xanthomatosis
HP:0001114	Xanthelasma
HP:0001084	Corneal arcus
HP:0000822	Hypertension
HP:0001920	Renal artery stenosis
HP:0004950	Peripheral arterial stenosis
HP:0007201	Cerebral artery atherosclerosis
HP:0012397	Aortic atherosclerotic lesion
HP:0004963	Calcification of the aorta
HP:0004381	Supravalvular aortic stenosis
HP:0001397	Hepatic steatosis
HP:0000799	Renal steatosis
HP:0006693	Myocardial steatosis
HP:0001653	Mitral regurgitation
HP:0005162	Abnormal left ventricular function
HP:0030148	Heart murmur
HP:0002094	Dyspnea
HP:0002829	Arthralgia
HP:0100261	Abnormal tendon morphology
HP:0001138	Optic neuropathy
HP:0012373	Abnormal eye physiology
HP:0012638	Abnormal nervous system physiology
HP:0003000062	Abnormal internal carotid artery morphology
HP:0000006	Autosomal dominant inheritance

Study ID	Trait	P-value
GCST006612_63	LDL cholesterol	3×10⁻²⁵⁷
GCST006614_64	Total cholesterol levels	8×10⁻¹⁷⁵
GCST008078_14	LDL cholesterol × alcohol interaction	3×10⁻¹⁷⁶
GCST008079_128	LDL cholesterol × alcohol interaction	2×10⁻¹⁷⁵
GCST008086_3	LDL cholesterol in current drinkers	1×10⁻¹⁰¹
GCST002898_8	LDL cholesterol	2×10⁻⁹²
GCST002896_38	Cholesterol, total	6×10⁻⁷³
GCST007931_34	HMG-CoA reductase inhibitor use	9×10⁻⁶⁴
GCST007848_1	LDL cholesterol	3×10⁻⁵⁹
GCST008077_42	LDL cholesterol levels	7×10⁻⁵²
GCST002222_40	LDL cholesterol	3×10⁻⁵⁰
GCST000134_5	LDL cholesterol	2×10⁻⁴⁴
GCST004233_11	LDL cholesterol levels	3×10⁻⁴²
GCST002221_2	Cholesterol, total	2×10⁻³⁹
GCST006612_17	LDL cholesterol	5×10⁻³⁶
GCST004235_25	Total cholesterol levels	1×10⁻³²
GCST006614_75	Total cholesterol levels	7×10⁻²⁹
GCST000759_30	LDL cholesterol	2×10⁻²⁸
GCST009240_283	Serum metabolite levels	7×10⁻²⁶
GCST005194_104	Coronary artery disease	2×10⁻²⁵
GCST009240_321	Serum metabolite levels	1×10⁻²⁴
GCST006034_32	Total cholesterol levels	1×10⁻²³
GCST009240_28	Serum metabolite levels	3×10⁻²³
GCST005195_45	Coronary artery disease	2×10⁻²²
GCST009240_268	Serum metabolite levels	4×10⁻²²
GCST009240_502	Serum metabolite levels	2×10⁻²¹
GCST009240_125	Serum metabolite levels	5×10⁻²⁰
GCST009240_161	Serum metabolite levels	7×10⁻²⁰
GCST009240_230	Serum metabolite levels	4×10⁻²⁰
GCST009240_123	Serum metabolite levels	1×10⁻¹⁸

Category	Primary Identifier
Gene (HGNC)	HGNC:20001
Gene (Ensembl)	ENSG00000169174
Gene (NCBI)	255738
Gene (OMIM)	607786
Protein (UniProt)	Q8NBP7
Protein (RefSeq)	NP_777596
Transcript (MANE Select)	NM_174936 / ENST00000302118
CCDS	CCDS603
AlphaFold	AF-Q8NBP7
PharmGKB	PA38617 (VIP Gene)

Section	Key Findings
Gene IDs	HGNC:20001, ENSG00000169174, Entrez 255738, OMIM 607786
Transcripts	12 Ensembl transcripts, NM_174936 (MANE Select), 12 exons
Proteins	Q8NBP7 (canonical), 692 aa, 74 kDa, 10 InterPro domains
Structures	62 PDB structures (mostly X-ray, 1.27-7.01 Å resolution)
Orthologs	Mouse, rat, zebrafish, fly, worm (no yeast ortholog)
Clinical Variants	1,456 ClinVar variants (9 pathogenic, 4 likely pathogenic), 1,961 SpliceAI predictions, 4,470 AlphaMissense predictions
Pathways/GO	4 Reactome pathways, 54 GO terms (cholesterol metabolism central)
Interactions	2,840 STRING interactions, 71 IntAct interactions (LDLR key partner)
Regulation	10 upstream TFs (SREBF1/2, HNF1A main activators)
Drugs	3 approved/advanced drugs (Evolocumab, Alirocumab, Inclisiran), 113+ clinical trials
Expression	Liver-predominant, ubiquitous low expression elsewhere
Disease	Familial hypercholesterolemia (definitive), 37 HPO phenotypes, 179+ GWAS associations