Provide a comprehensive cross-database identifier and functional mapping reference for human BRCA2. 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 BRCA2. 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

Section 1: Gene Identifiers
AttributeValue HGNC IDHGNC:1101 Approved SymbolBRCA2 Approved NameBRCA2 DNA repair associated Ensembl Gene IDENSG00000139618 NCBI Entrez Gene ID675 OMIM Gene/Locus ID600185 CCDS IDCCDS9344 Locus Groupprotein-coding gene StatusApproved Genomic Location (GRCh38) AttributeValue Chromosome13 Cytogenetic Band13q13.1 Start Position32,315,086 End Position32,400,268 Strand+ (positive) Gene Span85,182 bp Previous Symbols and Aliases TypeValues Previous NamesFanconi anemia, …

Transcript ID	Biotype	Start	End	Notes
ENST00000380152	protein_coding	32,315,508	32,400,268	Canonical/Principal
ENST00000544455	protein_coding	32,315,086	32,400,268
ENST00000530893	protein_coding	32,315,505	32,400,268
ENST00000680887	protein_coding	32,316,072	32,400,268
ENST00000700202	protein_coding	32,315,508	32,398,918
ENST00000713678	protein_coding	32,315,496	32,400,264
ENST00000713680	protein_coding	32,315,508	32,400,268
ENST00000470094	nonsense_mediated_decay	32,315,508	32,400,265
ENST00000528762	nonsense_mediated_decay	32,315,508	32,398,918
ENST00000614259	nonsense_mediated_decay	32,316,461	32,400,268
ENST00000665585	nonsense_mediated_decay	32,315,508	32,398,918
ENST00000666593	nonsense_mediated_decay	32,315,508	32,394,933
ENST00000700201	nonsense_mediated_decay	32,315,585	32,333,290
ENST00000713677	nonsense_mediated_decay	32,315,496	32,400,264
ENST00000713679	nonsense_mediated_decay	32,315,508	32,400,268
ENST00000533776	retained_intron	32,396,809	32,398,448
ENST00000700199	retained_intron	32,315,583	32,316,889
ENST00000700200	retained_intron	32,315,583	32,326,971
ENST00000700203	retained_intron	32,375,911	32,398,918

Accession	Type	Status	MANE Select
NM_000059	mRNA	REVIEWED	✓ Yes
NM_001406719	mRNA	REVIEWED	No
NM_001406720	mRNA	REVIEWED	No
NM_001406721	mRNA	REVIEWED	No
NM_001406722	mRNA	REVIEWED	No
NM_001432077	mRNA	REVIEWED	No
NR_176251	ncRNA	REVIEWED	No

Exon ID	Start	End	Length (bp)
ENSE00004011581	32,315,508	32,315,667	160
ENSE00001484009	32,316,422	32,316,527	106
ENSE00003666217	32,319,077	32,319,325	249
ENSE00003659301	32,325,076	32,325,184	109
ENSE00003739878	32,326,101	32,326,150	50
ENSE00003747332	32,326,242	32,326,282	41
ENSE00003749714	32,326,499	32,326,613	115
ENSE00003714754	32,329,443	32,329,492	50
ENSE00003731761	32,330,919	32,331,030	112
ENSE00000939167	32,332,272	32,333,387	1,116
ENSE00000939168	32,336,265	32,341,196	4,932
ENSE00000939169	32,344,558	32,344,653	96
ENSE00000939171	32,346,827	32,346,896	70
ENSE00000939173	32,354,861	32,355,288	428
ENSE00000939174	32,356,428	32,356,609	182
ENSE00000939175	32,357,742	32,357,929	188
ENSE00001394102	32,362,523	32,362,693	171
ENSE00000939177	32,363,179	32,363,533	355
ENSE00000939178	32,370,402	32,370,557	156
ENSE00000939180	32,370,956	32,371,100	145
ENSE00003461148	32,376,670	32,376,791	122
ENSE00000939183	32,379,317	32,379,515	199
ENSE00000939185	32,379,750	32,379,913	164
ENSE00000939187	32,380,007	32,380,145	139
ENSE00000939189	32,394,689	32,394,933	245
ENSE00003560258	32,396,898	32,397,044	147
ENSE00003717596	32,398,162	32,400,268	2,107

Accession	Status	Name	Length	Mass
P51587	Reviewed (Swiss-Prot)	Breast cancer type 2 susceptibility protein	3,418 aa	384,230 Da
A0A590UJ24	Unreviewed (TrEMBL)	-	-	-
A0A590UJI7	Unreviewed (TrEMBL)	-	-	-
A0A590UJU6	Unreviewed (TrEMBL)	-	-	-
A0A7P0T9D7	Unreviewed (TrEMBL)	-	-	-
A0A7P0TAP7	Unreviewed (TrEMBL)	-	-	-
A0A8V8TPZ2	Unreviewed (TrEMBL)	-	-	-
A0A8V8TQQ4	Unreviewed (TrEMBL)	-	-	-
A0AAQ5BGN0	Unreviewed (TrEMBL)	-	-	-
A0AAQ5BGN2	Unreviewed (TrEMBL)	-	-	-
A0AAQ5BGN4	Unreviewed (TrEMBL)	-	-	-
A0AAQ5BGQ6	Unreviewed (TrEMBL)	-	-	-
H0YD86	Unreviewed (TrEMBL)	-	-	-
H0YE37	Unreviewed (TrEMBL)	-	-	-

Accession	Status	MANE Select
NP_000050	REVIEWED	✓ Yes
NP_001393648	REVIEWED	No
NP_001393649	REVIEWED	No
NP_001393650	REVIEWED	No
NP_001393651	REVIEWED	No
NP_001419006	REVIEWED	No

BRCA2 Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Attribute	Value
HGNC ID	HGNC:1101
Approved Symbol	BRCA2
Approved Name	BRCA2 DNA repair associated
Ensembl Gene ID	ENSG00000139618
NCBI Entrez Gene ID	675
OMIM Gene/Locus ID	600185
CCDS ID	CCDS9344
Locus Group	protein-coding gene
Status	Approved

Attribute	Value
Chromosome	13
Cytogenetic Band	13q13.1
Start Position	32,315,086
End Position	32,400,268
Strand	+ (positive)
Gene Span	85,182 bp

Type	Values
Previous Names	Fanconi anemia, complementation group D1; breast cancer 2, early onset; breast cancer 2
Previous Symbols	FANCD1, FACD, FANCD
Aliases	FAD, FAD1, BRCC2, XRCC11

InterPro ID	Name	Type
IPR015525	BRCA2	Family
IPR002093	BRCA2_repeat	Repeat
IPR015187	BRCA2_OB_1	Domain
IPR048262	BRCA2_OB_2_dom	Domain
IPR015188	BRCA2_OB_3	Domain
IPR015252	BRCA2_hlx	Domain
IPR055077	BRCA2_TR2	Domain
IPR015205	Tower_dom	Domain
IPR012340	NA-bd_OB-fold	Homologous Superfamily
IPR036315	BRCA2_hlx_sf	Homologous Superfamily

PDB ID	Title	Method	Resolution (Å)
1N0W	Crystal structure of a RAD51-BRCA2 BRC repeat complex	X-RAY DIFFRACTION	1.70
8C3N	Stapled peptide SP30 in complex with HumRadA22	X-RAY DIFFRACTION	1.21
8BR9	Stapled peptide SP24 in complex with HumRadA22	X-RAY DIFFRACTION	1.63
6HQU	HumRadA22 in complex with recombined BRC repeat 8-2	X-RAY DIFFRACTION	1.97
3EU7	Crystal Structure of a PALB2/BRCA2 complex	X-RAY DIFFRACTION	2.20
7LDG	Crystal structure of the MEILB2-BRCA2 complex	X-RAY DIFFRACTION	2.56
7BDX	Armadillo domain of HSF2BP with BRCA2 peptide	X-RAY DIFFRACTION	2.60
8PBC	RAD51 filament on ssDNA bound by BRCA2 c-terminus	ELECTRON MICROSCOPY	2.61
8UVW	Crystal structure of RAD51-BRCA2 Cter complex	X-RAY DIFFRACTION	2.73
8PBD	RAD51 filament on dsDNA bound by BRCA2 c-terminus	ELECTRON MICROSCOPY	2.83
8C3J	Stapled peptide SP2 in complex with HumRadA22	X-RAY DIFFRACTION	3.02
6GY2	Human Plk1-PBD with BRCA2 phosphopeptide	X-RAY DIFFRACTION	3.11
8R2G	Crystal structure of a BRCA2-DMC1 complex	X-RAY DIFFRACTION	3.45
8QQE	Complex between DMC1 and PhePP domain of BRCA2	X-RAY DIFFRACTION	3.46

Organism	Ensembl Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000041147	Brca2	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000001111	Brca2	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000079015	brca2	protein_coding
Fruit fly (Drosophila melanogaster)	FBGN0050169	Brca2	protein_coding
Worm (C. elegans)	No direct ortholog identified	-	-
Yeast (S. cerevisiae)	No ortholog (BRCA2 is specific to metazoans)	-	-

Classification	Notes
Pathogenic	~1,500+ variants
Likely Pathogenic	~500+ variants
Uncertain Significance (VUS)	Majority of variants
Likely Benign	Multiple
Benign	Multiple
Conflicting Classifications	Many variants

ClinVar ID	HGVS Notation	Type	Classification
1012157	c.9163del (p.Leu3055fs)	Deletion	Pathogenic
1012158	c.5934del (p.Phe1978fs)	Deletion	Pathogenic
1012159	c.5566_5567inv (p.His1856Cys)	Inversion	Pathogenic
1012160	c.5362del (p.Ser1788fs)	Deletion	Pathogenic
1012161	c.5297del (p.Asn1766fs)	Deletion	Pathogenic
1012162	c.1561del (p.Ser521fs)	Deletion	Pathogenic
1012163	c.1053del (p.Lys351fs)	Deletion	Pathogenic/Likely pathogenic
1012164	c.728del (p.Asn243fs)	Deletion	Pathogenic
1012165	c.691_692delinsGA (p.Ser231Asp)	Indel	Pathogenic
1012166	c.2588del (p.Asn863fs)	Deletion	Pathogenic
1012167	c.7177del (p.Lys2392_Met2393insTer)	Deletion	Pathogenic
1012168	c.10248del (p.Lys3416fs)	Deletion	Pathogenic
1012202	c.8423_8427delinsA (p.Leu2808fs)	Indel	Pathogenic
1012203	c.8487+2T>G	SNV	Pathogenic
1012631	c.1490_1493del (p.Ser497fs)	Deletion	Pathogenic
1048907	c.68-2_316+1del	Deletion	Pathogenic
1048937	c.517-2_631+1del	Deletion	Pathogenic
1048980	c.4042del (p.Cys1348fs)	Deletion	Pathogenic
1049319	c.7436-2_7617+189del	Deletion	Pathogenic
1049351	c.6808_6836del (p.Gly2270fs)	Deletion	Pathogenic
1049419	c.1859_1865del (p.Gln619_Phe620insTer)	Deletion	Pathogenic
1049456	c.8732del (p.Ala2911fs)	Deletion	Pathogenic
1050075	c.8332-1_8487+146dup	Duplication	Pathogenic
1050270	c.8469_8475del (p.Gln2823fs)	Deletion	Pathogenic
1050378	c.8755-2_9023del	Deletion	Pathogenic
1050481	c.6334A>T (p.Arg2112Ter)	SNV	Pathogenic
1050553	c.8827del (p.Gln2943fs)	Deletion	Pathogenic
1050639	c.5593dup (p.Ile1865fs)	Duplication	Pathogenic
1050735	c.7726G>T (p.Gly2576Ter)	SNV	Pathogenic
1068686	c.6751_6752del (p.His2251fs)	Microsatellite	Pathogenic
1068842	c.20del (p.Glu7fs)	Deletion	Pathogenic
1068843	c.1761_1762insTA (p.Asn588Ter)	Insertion	Pathogenic
1068929	c.1403_1406del (p.Arg468fs)	Microsatellite	Pathogenic
1068981	c.4026del (p.Ser1342fs)	Deletion	Pathogenic
1069124	c.5409_5412del (p.Val1804fs)	Deletion	Pathogenic
1069421	c.859del (p.Met287fs)	Deletion	Pathogenic
1069551	c.9690_9696del (p.Leu3230fs)	Deletion	Pathogenic
1069760	c.6409_6410del (p.Asn2137fs)	Deletion	Pathogenic
1069813	c.2409T>A (p.Tyr803Ter)	SNV	Pathogenic
1070093	c.8857G>T (p.Glu2953Ter)	SNV	Pathogenic
1070128	c.3716_3717del (p.Lys1239fs)	Deletion	Pathogenic
1070316	c.1364del (p.Lys454_Ser455insTer)	Deletion	Pathogenic
1070329	c.8437G>T (p.Gly2813Ter)	SNV	Pathogenic
1070335	c.3472G>T (p.Glu1158Ter)	SNV	Pathogenic
1070336	c.7495del (p.Gln2499fs)	Deletion	Pathogenic
1070587	c.3352_3353del (p.Leu1118fs)	Deletion	Pathogenic
1070596	c.8266_8267dup (p.Glu2757fs)	Duplication	Pathogenic
1070668	c.7126_7127del (p.Ala2376fs)	Deletion	Pathogenic
1071296	c.8829_8830ins... (p.Ile2944delinsAspProValGlyAsnTer)	Insertion	Pathogenic
1071475	c.6284C>A (p.Ser2095Ter)	SNV	Pathogenic

Variant	Gene	Effect	Delta Score
13:32315088:G:C	BRCA2	donor_gain	0.99
13:32315136:C:A	BRCA2	donor_gain	0.99
13:32315135:T:TA	BRCA2	donor_gain	0.97
13:32315313:A:AC	BRCA2	donor_gain	0.93
13:32315314:C:CC	BRCA2	donor_gain	0.93
13:32315262:T:TA	BRCA2	donor_gain	0.90
13:32315167:AGGT:A	BRCA2	donor_gain	0.90
13:32315312:CA:C	BRCA2	donor_gain	0.90
13:32315289:A:C	BRCA2	donor_gain	0.89
13:32315288:A:AC	BRCA2	donor_gain	0.87
(... 3,845 additional predictions)

Variant	Protein Change	AM Score	Classification
13:32319091:A:C	S28R	0.969	likely_pathogenic
13:32319093:T:A	S28R	0.969	likely_pathogenic
13:32319093:T:G	S28R	0.969	likely_pathogenic
13:32319102:G:C	W31C	0.960	likely_pathogenic
13:32319102:G:T	W31C	0.960	likely_pathogenic
13:32319103:T:C	F32L	0.955	likely_pathogenic
13:32319105:T:A	F32L	0.955	likely_pathogenic
13:32319105:T:G	F32L	0.955	likely_pathogenic
13:32319104:T:C	F32S	0.938	likely_pathogenic
13:32319089:T:A	I27K	0.920	likely_pathogenic
13:32316504:T:C	F15S	0.918	likely_pathogenic
13:32319082:G:A	G25R	0.917	likely_pathogenic
13:32319082:G:C	G25R	0.917	likely_pathogenic
13:32316503:T:C	F15L	0.916	likely_pathogenic
13:32316505:T:A	F15L	0.916	likely_pathogenic
13:32316505:T:G	F15L	0.916	likely_pathogenic
13:32319250:T:C	F81L	0.913	likely_pathogenic
13:32319252:C:A	F81L	0.913	likely_pathogenic
13:32319252:C:G	F81L	0.913	likely_pathogenic
13:32319198:A:C	K63N	0.904	likely_pathogenic
13:32319198:A:T	K63N	0.904	likely_pathogenic
13:32319101:G:C	W31S	0.903	likely_pathogenic
13:32319113:T:C	L35P	0.981	likely_pathogenic
13:32319100:T:A	W31R	0.992	likely_pathogenic
13:32319100:T:C	W31R	0.992	likely_pathogenic
13:32319104:T:G	F32C	0.893	likely_pathogenic
13:32319113:T:G	L35R	0.893	likely_pathogenic
13:32319193:T:C	F62L	0.881	likely_pathogenic
13:32319195:T:A	F62L	0.881	likely_pathogenic
13:32319195:T:G	F62L	0.881	likely_pathogenic
13:32319089:T:G	I27R	0.879	likely_pathogenic
13:32319100:T:G	W31G	0.862	likely_pathogenic
13:32319124:G:C	A39P	0.849	likely_pathogenic
13:32319083:G:A	G25E	0.844	likely_pathogenic
13:32319251:T:C	F81S	0.824	likely_pathogenic
13:32319115:T:C	S36P	0.824	likely_pathogenic
13:32319083:G:T	G25V	0.797	likely_pathogenic
13:32319242:C:A	P78Q	0.794	likely_pathogenic
13:32316504:T:G	F15C	0.790	likely_pathogenic
13:32316517:C:G	C19W	0.775	likely_pathogenic
13:32319125:C:A	A39D	0.763	likely_pathogenic
13:32316513:G:C	R18P	0.763	likely_pathogenic
13:32319242:C:G	P78R	0.760	likely_pathogenic
13:32319197:A:T	K63I	0.755	likely_pathogenic
13:32319092:G:T	S28I	0.751	likely_pathogenic
13:32319103:T:A	F32I	0.739	likely_pathogenic
13:32319103:T:G	F32V	0.750	likely_pathogenic
13:32319101:G:T	W31L	0.740	likely_pathogenic
13:32316494:T:C	F12L	0.727	likely_pathogenic
13:32316496:T:A	F12L	0.727	likely_pathogenic

Pathway ID	Pathway Name	Disease Pathway
R-HSA-5685942	HDR through Homologous Recombination (HRR)	No
R-HSA-5693579	Homologous DNA Pairing and Strand Exchange	No
R-HSA-5693616	Presynaptic phase of homologous DNA pairing and strand exchange	No
R-HSA-5693554	Resolution of D-loop Structures through SDSA	No
R-HSA-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates	No
R-HSA-5685939	HDR through MMEJ (alt-NHEJ)	No
R-HSA-912446	Meiotic recombination	No
R-HSA-9701192	Defective HRR due to BRCA1 loss of function	Yes
R-HSA-9704331	Defective HDR through HRR due to PALB2 loss of BRCA1 binding	Yes
R-HSA-9704646	Defective HDR through HRR due to PALB2 loss of BRCA2/RAD51/RAD51C binding	Yes
R-HSA-9709275	Impaired BRCA2 translocation to the nucleus	Yes
R-HSA-9709570	Impaired BRCA2 binding to RAD51	Yes
R-HSA-9709603	Impaired BRCA2 binding to PALB2	Yes
R-HSA-9763198	Impaired BRCA2 binding to SEM1 (DSS1)	Yes

GO ID	Term
GO:0000724	double-strand break repair via homologous recombination
GO:0006302	double-strand break repair
GO:0000722	telomere maintenance via recombination
GO:0006289	nucleotide-excision repair
GO:0006355	regulation of DNA-templated transcription
GO:0045893	positive regulation of DNA-templated transcription
GO:0030330	DNA damage response, signal transduction by p53 class mediator
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
GO:0007283	spermatogenesis
GO:0007141	male meiosis I
GO:0008585	female gonad development
GO:0001556	oocyte maturation
GO:0001833	inner cell mass cell proliferation
GO:0007420	brain development
GO:0010165	response to X-ray
GO:0010225	response to UV-C
GO:0010332	response to gamma radiation
GO:0071479	cellular response to ionizing radiation
GO:0051298	centrosome duplication
GO:0032465	regulation of cytokinesis
GO:0045931	positive regulation of mitotic cell cycle
GO:0033600	negative regulation of mammary gland epithelial cell proliferation
GO:0070200	establishment of protein localization to telomere
GO:0071425	hematopoietic stem cell proliferation
GO:0090398	cellular senescence
GO:1990426	mitotic recombination-dependent replication fork processing

GO ID	Term
GO:0003697	single-stranded DNA binding
GO:0002020	protease binding
GO:0042802	identical protein binding
GO:0043015	gamma-tubulin binding
GO:0010484	histone H3 acetyltransferase activity
GO:0010485	histone H4 acetyltransferase activity

GO ID	Term
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005829	cytosol
GO:0005813	centrosome
GO:0000781	chromosome, telomeric region
GO:0000800	lateral element
GO:0000152	nuclear ubiquitin ligase complex
GO:0030141	secretory granule
GO:0032991	protein-containing complex
GO:0033593	BRCA2-MAGE-D1 complex
GO:1990391	DNA repair complex

UniProt ID	Gene Symbol	Score	Protein Name
P38398	BRCA1	999	Breast cancer type 1 susceptibility protein
Q06609	RAD51	999	DNA repair protein RAD51 homolog 1
Q86YC2	PALB2	999	Partner and localizer of BRCA2
Q9BXW9	FANCD2	999	Fanconi anemia group D2 protein
Q7Z589	EMSY	997	BRCA2-interacting transcriptional repressor
Q6ZVN7	HSF2BP	996	Heat shock factor 2-binding protein
Q99728	BARD1	996	BRCA1-associated RING domain protein 1
Q9P287	BCCIP	994	BRCA2 and CDKN1A-interacting protein
O15287	FANCG	991	Fanconi anemia group G protein
P43351	FANCM	991	Fanconi anemia group M protein
O43542	XRCC3	988	DNA repair protein XRCC3
Q9NVI1	FANCI	988	Fanconi anemia group I protein
O43502	RFC5	976	Replication factor C subunit 5
P04637	TP53	975	Cellular tumor antigen p53
Q9BX63	FANCL	975	E3 ubiquitin-protein ligase FANCL
Q13315	ATM	972	Serine-protein kinase ATM
P21333	FLNA	970	Filamin-A
O96017	CHK2	969	Serine/threonine-protein kinase Chk2
O15360	FANCA	963	Fanconi anemia group A protein
Q99708	RBBP8	961	DNA endonuclease RBBP8
O43543	XRCC2	960	DNA repair protein XRCC2
P09874	PARP1	942	Poly [ADP-ribose] polymerase 1
O75771	RAD52	938	DNA repair protein RAD52 homolog
P49959	MRE11	932	Double-strand break repair protein MRE11
Q8IYD8	SPIDR	929	Scaffolding protein involved in DNA repair
P43246	MSH2	926	DNA mismatch repair protein Msh2
P52701	MSH6	924	DNA mismatch repair protein Msh6
Q00597	FANCC	918	Fanconi anemia group C protein
O75330	HLTF	909	Helicase-like transcription factor
Q9NPI8	RNF168	908	E3 ubiquitin-protein ligase RNF168

Key Interactors	Interaction Type	Confidence
RAD51	direct interaction	0.98
PALB2	physical association	0.97
BRCA1	association	0.73
SEM1 (DSS1)	physical association	0.83
DMC1	direct interaction	0.76
FANCD2	physical association	0.69
TP53	direct interaction	0.65
RPA2	association	0.46

Entity A	Entity B	Effect	Mechanism
PALB2	BRCA2	up-regulates	binding
BRCA2	RAD51	up-regulates activity	binding
BRCA2	POLH	up-regulates	binding
PLK1	BRCA2	down-regulates activity	phosphorylation
FANCD2	BRCA2	up-regulates activity	binding
FANCD2	BRCA2	up-regulates activity	relocalization
EMSY	BRCA2	down-regulates activity	binding

UniProt ID	Top Similarity	Avg Similarity
Q6J6I8	1.0000	0.9929
Q9GKK8	1.0000	0.9931
F6ULY3	0.9999	0.9932
G7NY55	0.9999	0.9933
P38398 (BRCA1)	0.9999	0.9931
Q8N9V7	0.9998	0.9931
G3S077	0.9998	0.9935
O35923 (Mouse Brca2)	0.9995	0.9921
P97929 (Rat Brca2)	0.9995	0.9927

UniProt ID	Top Identity (%)	Top Bitscore
O35923 (Mouse Brca2)	82.90	5,179
P97929 (Rat Brca2)	82.90	5,199
Q864S8	67.70	4,127

Target Gene	Regulation Type	Notes
DMC1	Unknown	BRCA2 → DMC1
PSMD3	Unknown	BRCA2 → PSMD3
PSMD6	Unknown	BRCA2 → PSMD6
RAD51	Unknown	BRCA2 → RAD51

Transcription Factor	Regulation	Confidence
BRCA1	Unknown	-
NFKB1	Activation	High
NFKB	Activation	High
RELA	Activation	High
MYC	Unknown	High
ELF1	Unknown	High
ESR1	Unknown	High
FOXM1	Unknown	High
USF1	Unknown	High
USF2	Unknown	High
SNAI2	Unknown	High
TP53	Repression	High
PARP1	Repression	High
ESR2	Repression	High
CTBP1	Repression	-
HDAC1	Repression	-
MYOD1	Repression	Low
HMG20B	Unknown	-
ESRRB	Unknown	-
KDM5B	-	Low

Attribute	Value
PharmGKB ID	PA25412
VIP Gene (Very Important Pharmacogene)	Yes
Has CPIC Guideline	No

Drug Class	Representative Drugs	Mechanism
PARP Inhibitors	Olaparib (Lynparza), Rucaparib (Rubraca), Niraparib (Zejula), Talazoparib (Talzenna)	Synthetic lethality with HR deficiency
Platinum Agents	Cisplatin, Carboplatin	DNA crosslinking; HR-deficient cells cannot repair

Gene	Experimental System
PARP1	Synthetic Lethality
PARP2	Synthetic Lethality
CDK9	Negative Genetic
KDM5C	Negative Genetic
HDAC6	Negative Genetic
SMARCB1	Negative Genetic

Attribute	Value
Expression Breadth	Ubiquitous
Total Present Calls	184
Total Absent Calls	100
Total Conditions	284
Max Expression Score	94.30
Average Expression Score	57.20
Gold Quality Count	266

Rank	Tissue/Cell Type	Score	Quality
1	Male germ line stem cell in testis	94.30	Gold
2	Secondary oocyte	88.42	Gold
3	Ventricular zone	84.77	Gold
4	Primordial germ cell in gonad	84.70	Gold
5	Ganglionic eminence	80.61	Gold
6	Oocyte	78.93	Gold
7	Granulocyte	76.11	Gold
8	Bone marrow cell	75.12	Gold
9	Bone marrow	74.05	Gold
10	Embryo	73.93	Gold
11	Trabecular bone tissue	73.41	Gold
12	Stromal cell of endometrium	72.55	Gold
13	Calcaneal tendon	71.64	Gold
14	Testis	71.35	Gold
15	Colonic epithelium	70.49	Gold
16	Left testis	69.39	Gold
17	Right testis	69.28	Gold
18	Leukocyte	68.83	Gold
19	Monocyte	68.79	Gold
20	Mononuclear cell	68.44	Gold
21	Rectum	68.44	Gold
22	Adrenal tissue	68.33	Gold
23	Lymph node	66.86	Gold
24	Buccal mucosa cell	66.16	Gold
25	Cortical plate	65.28	Gold
26	Spleen	65.25	Gold
27	Vermiform appendix	64.89	Gold
28	Esophagus mucosa	63.64	Gold
29	Gall bladder	62.89	Gold
30	Small intestine Peyer's patch	62.80	Gold

Experiment ID	Description	Cells
E-CURD-114	Human airway epithelium (in vivo)	81,801
E-MTAB-6108	Stem cell-derived retinal ganglion cells	1,742
E-GEOD-99795	LNCaP prostate carcinoma cells +/- androgen	144
E-ENAD-17	Glioblastoma cells from primary tumors	96

Disease	OMIM/MONDO	Classification	Inheritance	Submitter
Breast-ovarian cancer, familial, susceptibility to, 2	OMIM:612555	Definitive	AD	Ambry Genetics
Breast-ovarian cancer, familial, susceptibility to, 2	OMIM:612555	Strong	AD	Genomics England
Breast-ovarian cancer, familial, susceptibility to, 2	OMIM:612555	Strong	AD	Labcorp Genetics
Fanconi anemia complementation group D1	OMIM:605724	Definitive	AR	Ambry Genetics
Fanconi anemia complementation group D1	OMIM:605724	Definitive	AR	G2P
Fanconi anemia complementation group D1	OMIM:605724	Strong	AR	Labcorp Genetics
Pancreatic cancer, susceptibility to, 2	OMIM:613347	Strong	AD	Genomics England
Sarcoma	MONDO:0005089	Moderate	AD	Genomics England
Medulloblastoma	OMIM:155255	Limited	AD	Ambry Genetics
Hereditary breast ovarian cancer syndrome	ORPHANET:145	Supportive	AD	Orphanet
Fanconi anemia	ORPHANET:84	Supportive	AR	Orphanet

Orphanet ID	Disease	Type	Gene Count
145	Hereditary breast and/or ovarian cancer syndrome	Disease	15
84	Fanconi anemia	Malformation syndrome	23
1331	Familial prostate cancer	Disease	15
1333	Familial pancreatic carcinoma	Disease	9
654	Nephroblastoma	Disease	12
70567	Cholangiocarcinoma	Disease	4
178	Chordoma	Disease	3
227535	Hereditary breast cancer	Disease	10
319462	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations	Disease	1
440437	Familial colorectal cancer Type X	Disease	10
667662	Breast implant-associated anaplastic large cell lymphoma	Disease	7
694963	Inflammatory breast cancer	Disease	2

HPO ID	Phenotype
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0001903	Anemia
HP:0001873	Thrombocytopenia
HP:0001249	Intellectual disability
HP:0001263	Global developmental delay
HP:0000252	Microcephaly
HP:0001510	Growth delay
HP:0001511	Intrauterine growth retardation
HP:0000957	Cafe-au-lait spot
HP:0001172	Abnormal thumb morphology
HP:0000028	Cryptorchidism
HP:0000085	Horseshoe kidney
HP:0000086	Ectopic kidney
HP:0001392	Abnormality of the liver
HP:0001402	Hepatocellular carcinoma
HP:0000819	Diabetes mellitus
HP:0001871	Abnormality of blood and blood-forming tissues
HP:0000478	Abnormality of the eye
HP:0000568	Microphthalmia
HP:0001631	Atrial septal defect
HP:0001636	Tetralogy of Fallot
HP:0000365	Hearing impairment
HP:0000135	Hypogonadism
HP:0000027	Azoospermia
... (and 167 more phenotypes)

Study ID	Trait	p-value
GCST002466_3	Lung cancer	5×10⁻²⁰
GCST002466_1	Lung cancer	2×10⁻¹⁹
GCST004748_107	Lung cancer	6×10⁻¹⁶
GCST004750_101	Squamous cell lung carcinoma	1×10⁻¹⁵
GCST004988_275	Breast cancer	3×10⁻¹⁵
GCST004233_43	LDL cholesterol levels	5×10⁻¹⁴
GCST003587_12	Cancer	8×10⁻¹²
GCST002222_55	LDL cholesterol	2×10⁻¹¹
GCST003588_18	Cancer (pleiotropy)	5×10⁻¹⁰
GCST008870_53	Keratinocyte cancer (MTAG)	6×10⁻¹⁰
GCST008872_16	Squamous cell carcinoma	1×10⁻⁹
GCST008871_72	Basal cell carcinoma	2×10⁻⁹
GCST004233_59	LDL cholesterol levels	3×10⁻⁹
GCST004746_14	Small cell lung carcinoma	3×10⁻⁸
GCST004236_11	LDL cholesterol levels	3×10⁻⁸
GCST001937_19	Breast cancer	5×10⁻⁸
GCST004749_95	Lung cancer in ever smokers	6×10⁻⁸
GCST010148_23	Cutaneous squamous cell carcinoma	1×10⁻⁶
GCST001930_11	Breast cancer	6×10⁻⁶
GCST010243_213	Apolipoprotein B levels	3×10⁻²⁷
GCST010245_75	LDL cholesterol levels	4×10⁻¹⁵

Category	Count
Ensembl Transcripts	19
RefSeq Transcripts (Human)	7
UniProt Entries	14
Exons (Canonical)	27
PDB Structures	14
InterPro Domains	10
ClinVar Variants	21,181
SpliceAI Predictions	3,855
AlphaMissense Predictions	22,763
GO Annotations	44
Reactome Pathways	14
STRING Interactions	3,778+
IntAct Interactions	301
BioGRID Interactions	753+
HPO Phenotypes	217
GWAS Associations	21
Orphanet Diseases	12
GenCC Disease-Gene Associations	11