Provide a comprehensive cross-database identifier and functional mapping reference for human SCN5A. 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 SCN5A. 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

Primary Gene Identifiers
DatabaseIdentifierDescription HGNCHGNC:10593Approved symbol: SCN5A EnsemblENSG00000183873Human gene NCBI Entrez6331Gene ID OMIM600163Gene/locus entry Gene Names and Aliases Approved Name: Sodium voltage-gated channel alpha subunit 5 Locus Group: Protein-coding gene Gene Family: Sodium voltage-gated channel alpha subunits Aliases: Nav1.5, LQT3, HB1, HB2, HBBD, PFHB1, IVF, HH1, SSS1, CDCD2, CMPD2, ICCD Previous Symbols: CMD1E Genomic Location AttributeValue Chromosome3 …

Attribute	Value
Chromosome	3
Cytogenetic Band	3p22.2
Start Position (GRCh38)	38,548,057
End Position (GRCh38)	38,649,743
Strand	Minus (-)
Genomic Accession	NC_000003.12
Gene Length	~101.7 kb

Transcript ID	Biotype	Start	End
ENST00000333535	protein_coding	38,548,062	38,649,687
ENST00000413689	protein_coding	38,548,062	38,649,687
ENST00000423572	protein_coding	38,548,062	38,649,687
ENST00000327956	protein_coding	38,548,062	38,645,776
ENST00000414099	protein_coding	38,548,057	38,633,349
ENST00000449557	protein_coding	38,550,321	38,633,316
ENST00000450102	protein_coding	38,549,968	38,633,349
ENST00000455624	protein_coding	38,549,128	38,633,332
ENST00000970295	protein_coding	38,548,063	38,649,678
ENST00000713730	nonsense_mediated_decay	38,548,062	38,649,687
ENST00000713731	nonsense_mediated_decay	38,587,320	38,649,743
ENST00000464652	protein_coding_CDS_not_defined	38,552,981	38,554,549
ENST00000476683	retained_intron	38,629,842	38,633,220
ENST00000491944	retained_intron	38,614,028	38,649,673
ENST00000718272	retained_intron	38,632,830	38,645,760
ENST00000718273	retained_intron	38,632,830	38,649,687

Accession	Status	MANE Select
NM_000335	REVIEWED	✓ YES (Canonical)
NM_001099404	REVIEWED	No
NM_001099405	REVIEWED	No
NM_001160160	REVIEWED	No
NM_001160161	REVIEWED	No
NM_001354701	REVIEWED	No
NM_001407185	REVIEWED	No
NM_001407186	REVIEWED	No
NM_001407187	REVIEWED	No
NM_198056	REVIEWED	No
NR_176299	REVIEWED (ncRNA)	No

Exon ID	Start	End	Strand
ENSE00004021056	38,649,531	38,649,687	-
ENSE00001779170	38,633,035	38,633,359	-
ENSE00003585523	38,630,311	38,630,429	-
ENSE00003562400	38,622,400	38,622,489	-
ENSE00003464330	38,620,843	38,620,971	-
ENSE00001414724	38,609,734	38,609,964	-
ENSE00004014127	38,613,743	38,613,834	-
ENSE00001330780	38,608,151	38,608,214	-
ENSE00001299736	38,606,669	38,606,810	-
ENSE00001320962	38,605,951	38,606,148	-
ENSE00001300791	38,604,729	38,604,908	-
ENSE00001322079	38,603,712	38,604,083	-
ENSE00001300049	38,598,918	38,599,050	-
ENSE00001329449	38,597,729	38,597,967	-
ENSE00001306185	38,587,400	38,587,573	-
ENSE00001315108	38,585,691	38,586,041	-
ENSE00001302724	38,580,931	38,581,371	-
ENSE00001321647	38,579,334	38,579,495	-
ENSE00001308928	38,576,661	38,576,781	-
ENSE00001328382	38,575,297	38,575,451	-
ENSE00001304836	38,566,409	38,566,582	-
ENSE00001293012	38,562,415	38,562,537	-
ENSE00001301918	38,560,147	38,560,428	-
ENSE00004014126	38,557,231	38,557,284	-
ENSE00001425187	38,556,441	38,556,578	-
ENSE00001647919	38,555,656	38,555,760	-
ENSE00003534979	38,554,279	38,554,549	-
ENSE00004014129	38,548,062	38,551,558	-

Accession	Status	Description
Q14524	✓ Canonical/Reviewed	Sodium channel protein type 5 subunit alpha
A0A0A0MT39	Unreviewed	Isoform
A0AAQ5BGT0	Unreviewed	Isoform
A0AAQ5BGV8	Unreviewed	Isoform
A3EY21	Unreviewed	Isoform
E9PG18	Unreviewed	Isoform
E9PHB6	Unreviewed	Isoform
H9KVD2	Unreviewed	Isoform
K4DIA1	Unreviewed	Isoform

SCN5A Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Description
HGNC	HGNC:10593	Approved symbol: SCN5A
Ensembl	ENSG00000183873	Human gene
NCBI Entrez	6331	Gene ID
OMIM	600163	Gene/locus entry

Property	Value
Protein Name	Sodium channel protein type 5 subunit alpha
Alternative Names	Nav1.5, hH1, Voltage-gated sodium channel subunit alpha Nav1.5
Sequence Length	2,016 amino acids
Molecular Mass	226,940 Da

Accession	Status	MANE Select
NP_000326	REVIEWED	✓ YES (Canonical)
NP_001092874	REVIEWED	No
NP_001092875	REVIEWED	No
NP_001153632	REVIEWED	No
NP_001153633	REVIEWED	No
NP_001341630	REVIEWED	No
NP_001394114	REVIEWED	No
NP_001394115	REVIEWED	No
NP_001394116	REVIEWED	No
NP_932173	REVIEWED	No

InterPro ID	Name	Type
IPR001696	Na_channel_asu	Family
IPR005821	Ion_trans_dom	Domain
IPR008053	Na_channel_a5su	Family
IPR010526	Na_trans_assoc_dom	Domain
IPR024583	Na_trans_cytopl	Domain
IPR027359	Volt_channel_dom_sf	Homologous_superfamily
IPR043203	VGCC_Ca_Na	Family
IPR044564	Na_chnl_inactivation_gate	Domain
IPR058542	IQ_SCN5A_C	Domain

Pfam ID	Description
PF00520	Ion transport protein
PF06512	Sodium ion transport-associated
PF11933	Sodium channel cytoplasmic domain
PF24609	IQ motif (SCN5A C-terminal)

PDB ID	Method	Resolution	Description
2KBI	NMR	-	C-terminal EF-hand domain of NaV1.5
2L53	NMR	-	Apo-CaM in complex with IQ motif of NaV1.5
4DCK	X-ray	2.2 Å	C-terminus with FGF13 and CaM
4DJC	X-ray	1.35 Å	NaV1.5 DIII-IV-Ca/CaM complex
4JQ0	X-ray	3.84 Å	C-terminal with FGF12B and Ca²⁺/CaM
4OVN	X-ray	2.8 Å	C-terminal with CaM poised for activation
5DBR	X-ray	2.25 Å	Ca²⁺ CaM with inactivation gate
6LQA	Cryo-EM	3.3 Å	Nav1.5 with quinidine
6MUD	X-ray	2.69 Å	C-terminal with Ca²⁺/CaM
7DTC	Cryo-EM	3.3 Å	Nav1.5-E1784K mutant
7L83	NMR	-	DIV S3b-S4a paddle motif in DPC micelle
8VYJ	Cryo-EM	3.6 Å	Full-length human cardiac sodium channel - Class-I
8VYK	Cryo-EM	3.9 Å	Full-length human cardiac sodium channel - Class-II
9ITH	Cryo-EM	3.4 Å	Nav1.5 in complex with TTX

Organism	Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000032511	Scn5a	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000015049	Scn5a	protein_coding
Zebrafish (Danio rerio)	No direct ortholog found	-	-
Fruit fly (Drosophila)	No direct ortholog found	-	-
Worm (C. elegans)	No direct ortholog found	-	-
Yeast (S. cerevisiae)	No ortholog	-	-

Note	Total paralogs in human genome
SCN5A orthologs are found in mammals; voltage-gated sodium channels have different gene families in invertebrates.	26 (other sodium channel alpha subunits)
		Clinical Variants & AI Predictions**

Classification	Count (estimated)
Pathogenic	~200+
Likely Pathogenic	~100+
Uncertain Significance (VUS)	~3,500+
Likely Benign	~200+
Benign	~100+
Conflicting	~50+

Variant ID	HGVS Notation	Type	Classification
201438	c.664C>T (p.Arg222Ter)	SNV	Pathogenic
201443	c.1080G>A (p.Trp360Ter)	SNV	Pathogenic
201447	c.1134T>A (p.Tyr378Ter)	SNV	Pathogenic
1072847	c.934+1G>A	Splice	Pathogenic
201427	c.611+1G>A	Splice	Pathogenic
1408176	c.217C>T (p.Gln73Ter)	SNV	Pathogenic
179338	c.3992del (p.Pro1331fs)	Deletion	Pathogenic
179829	c.1936del (p.Gln646fs)	Deletion	Pathogenic
1076513	c.901del (p.Trp301fs)	Deletion	Pathogenic
1073809	c.4085del (p.Cys1362fs)	Deletion	Pathogenic
201555	c.1711del (p.Ser571fs)	Deletion	Pathogenic
201557	c.1753del (p.His585fs)	Deletion	Pathogenic
201558	c.2103del (p.Leu702fs)	Deletion	Pathogenic
1214434	c.2274del (p.Ile759fs)	Deletion	Pathogenic
1185878	c.3762del (p.Leu1255fs)	Deletion	Pathogenic
1733997	c.3693del (p.Lys1232fs)	Deletion	Pathogenic
1737836	c.40del (p.Arg14fs)	Deletion	Pathogenic
201560	c.2550_2551dup (p.Phe851fs)	Indel	Pathogenic
201561	c.2582_2583del (p.Phe861fs)	Deletion	Pathogenic
1386100	c.2533dup (p.Val845fs)	Duplication	Pathogenic
201566	c.3488dup (p.Glu1164fs)	Duplication	Pathogenic
201567	c.3514_3515del (p.Val1172fs)	Deletion	Pathogenic
1012143	c.4265_4294del (p.Asp1422_Arg1431del)	Deletion	Pathogenic
201571	c.4516_4524del (p.Gln1506_Pro1508del)	Deletion	Pathogenic
1449654	c.4492AAG[1] (p.Lys1499del)	Microsatellite	Pathogenic
217838	c.4769G>A (p.Trp1590Ter)	SNV	Pathogenic
216141	c.4179C>G (p.Tyr1393Ter)	SNV	Pathogenic
242199	c.4891C>T (p.Arg1631Cys)	SNV	Pathogenic
1788496	c.2254G>C (p.Gly752Arg)	SNV	Pathogenic
2107170	c.1947T>A (p.Cys649Ter)	SNV	Pathogenic
1072446	c.2618C>G (p.Ser873Ter)	SNV	Pathogenic
1076635	c.3394G>T (p.Glu1132Ter)	SNV	Pathogenic
1075437	c.4837A>T (p.Lys1613Ter)	SNV	Pathogenic
1187556	c.2230G>T (p.Glu744Ter)	SNV	Pathogenic
1374462	c.578G>A (p.Trp193Ter)	SNV	Pathogenic
1375303	c.4316G>A (p.Trp1439Ter)	SNV	Pathogenic
201580	c.2023+2T>A	Splice	Pathogenic
1502060	c.1140+2T>G	Splice	Pathogenic
2026498	c.3960+1G>T	Splice	Pathogenic
1067586	c.2024-1G>A	Splice	Likely Pathogenic
1068181	c.4296+1G>T	Splice	Likely Pathogenic
1066010	c.3961G>T (p.Val1321Leu)	SNV	Likely Pathogenic
1066904	Deletion g.38591792_38593069	Deletion	Likely Pathogenic
1071777	c.334dup (p.Tyr112fs)	Duplication	Pathogenic
1073629	c.4320dup (p.Tyr1441fs)	Duplication	Pathogenic
1076515	c.3758del (p.Met1253fs)	Deletion	Pathogenic
1527869	c.2678G>T (p.Arg893Leu)	SNV	Pathogenic
2027105	c.206del (p.Gly69fs)	Deletion	Pathogenic
2027600	c.5295G>C (p.Met1765Ile)	SNV	Pathogenic
201593	c.4810G>C (p.Gly1604Arg)	SNV	Pathogenic

CCDS ID
CCDS46796
CCDS46797
CCDS46798
CCDS46799
CCDS54569
CCDS54570

Variant	Effect	Delta Score
3:38551555:GTGCC>G	acceptor_loss	0.99
3:38551556:TGCC>T	acceptor_loss	0.99
3:38551557:GCCT>G	acceptor_loss	0.99
3:38551558:CCT>C	acceptor_loss	0.99
3:38551556:TGC>T	acceptor_gain	0.98
3:38551555:GTGC>G	acceptor_gain	0.97
3:38551554:AGTGC>A	acceptor_gain	0.95
3:38551557:GC>G	acceptor_gain	0.95
3:38551558:CC>C	acceptor_gain	0.95
3:38548201:C>CC	acceptor_gain	0.74
3:38548533:GGACT>G	acceptor_gain	0.67
3:38548535:ACTC>A	acceptor_gain	0.65
3:38548223:C>T	acceptor_gain	0.61
3:38548537:T>TG	acceptor_gain	0.61
3:38548228:C>T	acceptor_gain	0.60
3:38548534:GACTC>G	acceptor_gain	0.53
3:38548196:CAGTT>C	acceptor_gain	0.48
3:38548472:A>T	donor_gain	0.44
3:38548538:C>G	acceptor_gain	0.42
3:38548200:T>TC	acceptor_gain	0.39

Note
The majority of AlphaMissense predictions for SCN5A fall into "likely_benign" or "ambiguous" categories, consistent with the functional tolerance of many positions in the large protein.
	Biological Pathways & Gene Ontology**

Pathway ID	Name
R-HSA-5576892	Phase 0 - rapid depolarisation
R-HSA-445095	Interaction between L1 and Ankyrins

GO ID	Term
GO:0005248	voltage-gated sodium channel activity
GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential
GO:0086060	voltage-gated sodium channel activity involved in AV node cell action potential
GO:0086061	voltage-gated sodium channel activity involved in bundle of His cell action potential
GO:0086062	voltage-gated sodium channel activity involved in Purkinje myocyte action potential
GO:0086063	voltage-gated sodium channel activity involved in SA node cell action potential
GO:0005516	calmodulin binding
GO:0017134	fibroblast growth factor binding
GO:0019899	enzyme binding
GO:0019901	protein kinase binding
GO:0019904	protein domain specific binding
GO:0030506	ankyrin binding
GO:0031625	ubiquitin protein ligase binding
GO:0044325	transmembrane transporter binding
GO:0050998	nitric-oxide synthase binding
GO:0097110	scaffold protein binding
GO:0005216	monoatomic ion channel activity
GO:0005261	monoatomic cation channel activity
GO:0005272	sodium channel activity
GO:0005515	protein binding

GO ID	Term
GO:0002027	regulation of heart rate
GO:0003161	cardiac conduction system development
GO:0003231	cardiac ventricle development
GO:0006814	sodium ion transport
GO:0035725	sodium ion transmembrane transport
GO:0060048	cardiac muscle contraction
GO:0086002	cardiac muscle cell action potential involved in contraction
GO:0086005	ventricular cardiac muscle cell action potential
GO:0086010	membrane depolarization during action potential
GO:0086012	membrane depolarization during cardiac muscle cell action potential
GO:0086014	atrial cardiac muscle cell action potential
GO:0086015	SA node cell action potential
GO:0086016	AV node cell action potential
GO:0086043	bundle of His cell action potential
GO:0086091	regulation of heart rate by cardiac conduction
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization
GO:0060373	regulation of ventricular cardiac muscle cell membrane depolarization
GO:0051899	membrane depolarization
GO:1902305	regulation of sodium ion transmembrane transport

GO ID	Term
GO:0001518	voltage-gated sodium channel complex
GO:0005886	plasma membrane
GO:0014704	intercalated disc
GO:0042383	sarcolemma
GO:0030315	T-tubule
GO:0030018	Z disc
GO:0005901	caveola
GO:0009986	cell surface
GO:0016328	lateral plasma membrane
GO:0016020	membrane
GO:0048471	perinuclear region of cytoplasm
GO:0005783	endoplasmic reticulum
GO:0005654	nucleoplasm
GO:0005730	nucleolus
GO:0034702	monoatomic ion channel complex
GO:0070161	anchoring junction
GO:0005737	cytoplasm

Rank	UniProt	Gene	Confidence Score
1	Q14524	SCN5A (self)	987
2	P02593	CALM1 (Calmodulin)	987
3	Q12955	ANK2 (Ankyrin-2)	982
4	Q12809	KCNH2 (hERG)	978
5	P15382	KCNE1	977
6	Q9Y6J6	KCNE1L	977
7	Q99959	PKP2 (Plakophilin-2)	976
8	P51787	KCNQ1	973
9	Q07699	SCN1B (Beta-1 subunit)	967
10	P27482	CALM3	965
11	Q8N335	GPD1L	965
12	Q9NZT1	CALML5	965
13	Q8TD86	SNTA1 (Syntrophin)	964
14	Q96GE6	SCN3B (Beta-3 subunit)	964
15	Q8IWT1	SCN4B (Beta-4 subunit)	950
16	Q9Y3Q4	SCN2B (Beta-2 subunit)	950
17	Q92913	TESC	949
18	O60258	FGF13	928
19	Q13424	SNTA1	927
20	P42658	DLG1 (SAP97)	909
21	P56539	CAV3 (Caveolin-3)	897
22	Q9Y6H6	ANK3	892
23	Q9NY72	SCN3A	891
24	Q12959	DLG4	890
25	P48049	SCN4A	886
26	P36382	SCN2A	879
27	Q92736	RYR2	873
28	Q08289	BMPK	869
29	P17302	GJA1 (Connexin-43)	868
30	Q9HD47	CAMK2D	837

Interactor Gene	Interaction Type	Confidence
CALM1	direct interaction	0.93
FGF12	direct/physical association	0.54
DLG1	direct interaction	0.61
PTPN3	direct interaction	0.67
SNTG2	direct interaction	0.66
SNTA1	direct interaction	0.59
ANK3	direct interaction	0.44
SMURF2	direct interaction	0.44
GPD1L	physical association	0.40
DLG2	direct interaction	0.44
DLG3	direct interaction	0.44
DLG4	direct interaction	0.44
SNTB1	direct interaction	0.44
PDZD2	direct interaction	0.44
SNX27	direct interaction	0.44
IL16	direct interaction	0.44
MAGI1/2/3	direct interaction	0.44
LDB3	direct interaction	0.44
TJP1	direct interaction	0.44
CASK	direct interaction	0.44

UniProt	Top Similarity	Avg Similarity
A2APX8	1.0000	0.9927
B1AWN6	0.9999	0.9936
A2ASI5	0.9999	0.9932
O88420	1.0000	0.9935
O08562	0.9999	0.9934
Q9WTU3	1.0000	0.9934
Q9NY46	0.9994	0.9933
Q99250	0.9998	0.9933
Q15858	0.9997	0.9933
P04774	1.0000	0.9927
P04775	0.9999	0.9936
P08104	0.9999	0.9931
P35498	0.9999	0.9926
Q6QIY3	0.9996	0.9929
Q62968	0.9996	0.9928
Q9UQD0	0.9999	0.9934
Q62205	0.9999	0.9937
O46669	0.9989	0.9930
P0DMA5	0.9994	0.9929
P02719	0.9970	0.9931

UniProt	Identity %	Bitscore	Description
B1AWN6	99.6%	3629	Mouse Nav1.5
A2APX8	99.4%	3653	Nav1.5 ortholog
P04774	99.4%	3652	SCN5A ortholog
O88420	99.1%	3636	Rat Nav1.5
Q9WTU3	99.1%	3640	Nav1.5 ortholog
A2ASI5	98.8%	3509	Nav1.5 ortholog
P08104	98.8%	3503	Nav1.5 ortholog
Q99250	97.9%	3564	SCN8A/Nav1.6
O08562	97.6%	3595	SCN5A ortholog
Q62205	97.6%	3599	Nav1.5 ortholog
Q01668	97.6%	3962	SCN2A/Nav1.2
Q9JJV9	97.5%	3736	SCN1A/Nav1.1
P15389	97.5%	3729	SCN8A/Nav1.6
Q07652	98.2%	3944	SCN2A/Nav1.2
Q61290	98.2%	3953	Mouse SCN2A
Q9UQD0	98.4%	3599	Nav1.5 ortholog
P35498	96.7%	3605	SCN9A/Nav1.7
P15390	95.8%	3269	SCN4A/Nav1.4
Q9ER60	95.8%	3275	SCN4A/Nav1.4
Q15878	94.1%	3872	SCN3A/Nav1.3

TF Gene	Regulation	Confidence
TBX5	Activation	-
FOXO1	Activation	High
MYOG	Activation	-
ANK3	Activation	-
TNF	Activation	-
CTNNB1	Repression	-
ESR1	Repression	-
FOXK1	Repression	High
IL10	Repression	-
TCF7L2	Repression	-
SP1	Unknown	High
IRF6	Unknown	High
ESR2	Unknown	Low
GTF3A	Unknown	Low
MAFB	Unknown	Low
NFKBIA	Unknown	Low
PARP1	Unknown	Low
THRA	Unknown	Low
USF1	Unknown	Low
VSX2	Unknown	Low

Target ID	Type	Description
CHEMBL1980	SINGLE PROTEIN	Sodium channel protein type 5 subunit alpha
CHEMBL2331043	PROTEIN FAMILY	Sodium channel alpha subunit
CHEMBL4523669	PROTEIN COMPLEX	SCN5A/SCN1B
CHEMBL4630763	PROTEIN COMPLEX	SCN5A/SCN1B/SCN2B

ChEMBL ID	Drug Name	Mechanism
CHEMBL558	MEXILETINE	Sodium channel blocker
CHEMBL1200606	MEXILETINE HYDROCHLORIDE	Sodium channel blocker
CHEMBL1294	QUINIDINE	Class Ia antiarrhythmic
CHEMBL633	AMIODARONE	Class III antiarrhythmic
CHEMBL652	FLECAINIDE	Class Ic antiarrhythmic
CHEMBL631	PROPAFENONE	Class Ic antiarrhythmic
CHEMBL1404	RANOLAZINE	Late Na current inhibitor
CHEMBL79	LIDOCAINE	Local anesthetic/antiarrhythmic
CHEMBL698	TETRACAINE	Local anesthetic
CHEMBL492	ETIDOCAINE	Local anesthetic
CHEMBL1086	DIBUCAINE	Local anesthetic
CHEMBL1374379	BENZONATATE	Local anesthetic
CHEMBL108	CARBAMAZEPINE	Anticonvulsant
CHEMBL16	PHENYTOIN	Anticonvulsant
CHEMBL741	LAMOTRIGINE	Anticonvulsant
CHEMBL744	RILUZOLE	Neuroprotective
CHEMBL6966	VERAPAMIL	Calcium channel blocker
CHEMBL193	NIFEDIPINE	Calcium channel blocker
CHEMBL1491	AMLODIPINE	Calcium channel blocker
CHEMBL1480	FELODIPINE	Calcium channel blocker
CHEMBL1484	NICARDIPINE	Calcium channel blocker
CHEMBL1428	NIMODIPINE	Calcium channel blocker
CHEMBL1648	ISRADIPINE	Calcium channel blocker
CHEMBL1726	NISOLDIPINE	Calcium channel blocker
CHEMBL1008	BEPRIDIL	Calcium/sodium channel blocker
CHEMBL27	PROPRANOLOL	Beta-blocker
CHEMBL434394	NEBIVOLOL	Beta-blocker
CHEMBL723	CARVEDILOL	Beta/alpha-blocker
CHEMBL2107383	VERNAKALANT HYDROCHLORIDE	Atrial-selective antiarrhythmic

ChEMBL ID	Drug Name	Class
CHEMBL11	IMIPRAMINE	Antidepressant
CHEMBL72	DESIPRAMINE	Antidepressant
CHEMBL629	AMITRIPTYLINE	Antidepressant
CHEMBL1175	DULOXETINE	Antidepressant
CHEMBL490	PAROXETINE	Antidepressant
CHEMBL809	SERTRALINE	Antidepressant
CHEMBL814	FLUVOXAMINE	Antidepressant
CHEMBL71	CHLORPROMAZINE	Antipsychotic
CHEMBL54	HALOPERIDOL	Antipsychotic
CHEMBL85	RISPERIDONE	Antipsychotic
CHEMBL716	QUETIAPINE	Antipsychotic
CHEMBL42	CLOZAPINE	Antipsychotic
CHEMBL1423	PIMOZIDE	Antipsychotic
CHEMBL1621	PALIPERIDONE	Antipsychotic
CHEMBL1237021	LURASIDONE	Antipsychotic
CHEMBL3187365	ASENAPINE	Antipsychotic
CHEMBL12713	SERTINDOLE	Antipsychotic
CHEMBL1108	DROPERIDOL	Antipsychotic
CHEMBL726	FLUPHENAZINE	Antipsychotic
CHEMBL479	THIORIDAZINE	Antipsychotic
CHEMBL657	DIPHENHYDRAMINE	Antihistamine
CHEMBL1626	CLEMASTINE	Antihistamine
CHEMBL17157	TERFENADINE	Antihistamine (withdrawn)
CHEMBL296419	ASTEMIZOLE	Antihistamine (withdrawn)
CHEMBL163	RITONAVIR	Antiviral
CHEMBL729	LOPINAVIR	Antiviral
CHEMBL584	NELFINAVIR	Antiviral
CHEMBL1323	DARUNAVIR	Antiviral
CHEMBL1241951	LETERMOVIR	Antiviral

Attribute	Value
PharmGKB ID	PA304
VIP Gene	Yes (Very Important Pharmacogene)
Has Variant Annotations	Yes
CPIC Guideline	No

Note
SCN5A is a VIP (Very Important Pharmacogene) due to its role in drug-induced arrhythmias and the pharmacogenomics of antiarrhythmic drug response.
	Expression Profiles**

Attribute	Value
Expression Breadth	Ubiquitous
Total Present Calls	161
Maximum Expression Score	95.49

Rank	Tissue	Expression Score	Quality
1	Apex of heart	95.49	Gold
2	Heart left ventricle	93.12	Gold
3	Cardiac ventricle	92.91	Gold
4	Right atrium auricular region	92.69	Gold
5	Cardiac atrium	91.94	Gold
6	Left ventricle myocardium	91.09	Gold
7	Heart right ventricle	88.93	Gold
8	Heart	88.05	Gold
9	Myocardium	87.83	Gold
10	Cardiac muscle of right atrium	85.22	Silver
11	Male germ line stem cell in testis	82.53	Silver
12	Primordial germ cell in gonad	80.13	Gold
13	Secondary oocyte	74.40	Silver
14	Sural nerve	72.76	Gold
15	Pigmented layer of retina	71.27	Silver
16	Ventricular zone	70.42	Gold
17	Ganglionic eminence	65.11	Gold
18	Endocervix	62.34	Gold
19	Adrenal tissue	62.24	Gold
20	Ascending aorta	62.11	Gold
21	Thoracic aorta	62.09	Gold
22	Primary visual cortex	61.20	Gold
23	Tibial nerve	60.94	Gold
24	Aorta	59.33	Gold
25	Gastrocnemius muscle	58.96	Gold
26	Descending thoracic aorta	58.75	Gold
27	Uterine cervix	58.68	Gold
28	Embryo	58.32	Gold
29	Prefrontal cortex	58.19	Gold
30	Muscle of leg	57.93	Gold

Disease	Classification	Inheritance	Submitter
Brugada syndrome 1 (OMIM:601144)	Definitive	AD	Multiple
Brugada syndrome (MONDO:0015263)	Definitive	AD	ClinGen
Long QT syndrome 3 (OMIM:603830)	Definitive	AD	Multiple
Dilated cardiomyopathy 1E (OMIM:601154)	Definitive	AD	Multiple
Progressive familial heart block, type 1A (OMIM:113900)	Strong/Moderate	AD/SD	Multiple
Sick sinus syndrome 1 (OMIM:608567)	Strong/Limited	AR/AD	Invitae

Orphanet ID	Disease Name	Gene Count	Type
130	Brugada syndrome	22	Disease
101016	Romano-Ward syndrome	19	Disease
154	Familial isolated dilated cardiomyopathy	53	Disease
334	Hereditary atrial fibrillation	24	Disease
871	Hereditary progressive cardiac conduction defect	4	Disease
166282	Hereditary sick sinus syndrome	4	Disease
228140	Idiopathic ventricular fibrillation	2	Disease
1344	Isolated atrial standstill	2	Disease

HPO ID	Phenotype
HP:0001657	Prolonged QT interval
HP:0005184	Prolonged QTc interval
HP:0001663	Ventricular fibrillation
HP:0001664	Torsade de pointes
HP:0004756	Ventricular tachycardia
HP:0004751	Paroxysmal ventricular tachycardia
HP:0011704	Sick sinus syndrome
HP:0001688	Sinus bradycardia
HP:0001662	Bradycardia
HP:0001649	Tachycardia
HP:0005110	Atrial fibrillation
HP:0004757	Paroxysmal atrial fibrillation
HP:0004754	Permanent atrial fibrillation
HP:0004749	Atrial flutter
HP:0025478	Atrial standstill
HP:0001678	Atrioventricular block
HP:0011705	First degree atrioventricular block
HP:0011707	Mobitz I atrioventricular block
HP:0012722	Heart block
HP:0005170	Complete heart block with broad QRS complexes
HP:0011710	Bundle branch block
HP:0011712	Complete right bundle branch block
HP:0011713	Left bundle branch block
HP:0011711	Left anterior fascicular block
HP:0005172	Left posterior fascicular block
HP:0011715	Trifascicular block
HP:0001644	Dilated cardiomyopathy
HP:0001638	Cardiomyopathy
HP:0001635	Congestive heart failure
HP:0012664	Reduced left ventricular ejection fraction
HP:0025169	Left ventricular systolic dysfunction
HP:0001712	Left ventricular hypertrophy
HP:0030682	Left ventricular noncompaction
HP:0001645	Sudden cardiac death
HP:0001699	Sudden death
HP:0001695	Cardiac arrest
HP:0001279	Syncope
HP:0001962	Palpitations
HP:0011675	Arrhythmia
HP:0004308	Ventricular arrhythmia
HP:0031546	Cardiac conduction abnormality
HP:0012248	Prolonged PR interval
HP:0012251	ST segment elevation
HP:0005135	Abnormal T-wave
HP:0031595	Abnormal P wave
HP:0033122	Absent P wave
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0003577	Congenital onset
HP:0003581	Adult onset

Study ID	Trait	P-value
GCST010321_94	PR interval	0 (highly significant)
GCST001735_5	PR interval	5×10⁻⁴³
GCST007045_3	PR interval	1×10⁻⁶⁸
GCST004826_15	P wave duration	2×10⁻⁴⁰
GCST004826_4	P wave duration	1×10⁻³⁹
GCST010321_119	PR interval	1×10⁻³⁴
GCST008054_26	QRS duration	2×10⁻³¹
GCST002500_20	QT interval	4×10⁻²⁷
GCST000872_8	QRS duration	6×10⁻²²
GCST000872_7	QRS duration	2×10⁻²⁰
GCST008422_1	QRS duration	1×10⁻²⁴
GCST000562_8	PR interval	6×10⁻²⁶
GCST001893_2	ECG conduction measures	3×10⁻²⁰
GCST006414_123	Atrial fibrillation	3×10⁻¹⁶
GCST005171_24	QT interval	1×10⁻¹⁵
GCST000363_3	QT interval	1×10⁻¹⁴
GCST002098_1	Brugada syndrome	1×10⁻¹⁴
GCST006061_160	Atrial fibrillation	7×10⁻¹⁴
GCST004826_11	P wave duration	3×10⁻¹⁴
GCST003598_24	QRS duration	4×10⁻¹⁴
GCST000364_7	QT interval	5×10⁻¹⁴
GCST008042_5	PR interval	2×10⁻¹³
GCST000872_12	QRS duration	1×10⁻¹⁶
GCST001735_1	PR interval	4×10⁻¹²
GCST003818_26	Resting heart rate	1×10⁻¹¹
GCST005905_11	Global electrical heterogeneity	3×10⁻¹¹
GCST006414_122	Atrial fibrillation	7×10⁻¹²
GCST005080_5	PR interval	4×10⁻⁴¹
GCST010796_3929	ECG morphology	1×10⁻⁵²
GCST010796_3927	ECG morphology	1×10⁻⁴⁸

Category	Count
Ensembl Transcripts	16
RefSeq Transcripts (human mRNA)	11
CCDS IDs	6
Exons (canonical)	28
UniProt Entries	9
Protein Length (aa)	2,016
PDB Structures	14
InterPro Domains	9
Pfam Domains	4
ClinVar Variants	4,334
SpliceAI Predictions	5,420
AlphaMissense Predictions	13,357
GO Terms	79
Reactome Pathways	2
STRING Interactions	1,878
IntAct Interactions	172
ESM2 Similar Proteins	62
DIAMOND Homologs	53
Approved Drugs (Phase 4)	89
GenCC Disease Associations	23
Orphanet Diseases	8
HPO Phenotypes	105
GWAS Associations	193
TF Regulators	20