Gene Gene information from NCBI Gene database.
Entrez ID 128861
Gene name BPI fold containing family A member 3
Gene symbol BPIFA3
Synonyms (NCBI Gene)
C20orf71SPLUNC3
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
621167 16204 ENSG00000131059
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQP9
Protein name BPI fold-containing family A member 3 (Short palate, lung and nasal epithelium carcinoma-associated protein 3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01273 LBP_BPI_CETP 45 219 LBP / BPI / CETP family, N-terminal domain Family
Sequence
Sequence length 254
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BPIFA3-related disorder Benign; Likely benign rs74640466, rs142257117, rs113989803, rs116819024, rs3818222 RCV003916989
RCV003929495
RCV003949260
RCV003924172
RCV003981925
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Otitis Media Associate 23133572