Gene Gene information from NCBI Gene database.
Entrez ID 128859
Gene name BPI fold containing family B member 6
Gene symbol BPIFB6
Synonyms (NCBI Gene)
BPIL3LPLUNC6
Chromosome 20
Chromosome location 20q11.21
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0008289 Function Lipid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614110 16504 ENSG00000167104
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFQ5
Protein name BPI fold-containing family B member 6 (Bactericidal/permeability-increasing protein-like 3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01273 LBP_BPI_CETP 22 184 LBP / BPI / CETP family, N-terminal domain Family
PF02886 LBP_BPI_CETP_C 262 452 LBP / BPI / CETP family, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected at very low levels in normal tonsils, and at higher levels in hypertrophic tonsils.
Sequence
Sequence length 453
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antimicrobial peptides
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CUTANEOUS SQUAMOUS CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Rectal Carcinoma Rectal Carcinoma BEFREE 27529132
★☆☆☆☆
Found in Text Mining only