BPIFC (BPI fold containing family C)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 254240
Gene name BPI fold containing family C
Gene symbol BPIFC
Synonyms (NCBI Gene)
BPIL2
Chromosome 22
Chromosome location 22q12.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0001530 Function Lipopolysaccharide binding NAS 12185532
GO:0002376 Process Immune system process IEA
GO:0005543 Function Phospholipid binding NAS 12185532
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614109 16503 ENSG00000184459
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFQ6
Protein name BPI fold-containing family C protein (Bactericidal/permeability-increasing protein-like 2) (BPI-like 2)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01273 LBP_BPI_CETP 38 → 217 LBP / BPI / CETP family, N-terminal domain Family
PF02886 LBP_BPI_CETP_C 242 → 478 LBP / BPI / CETP family, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in the basal layer of the epidermis from inflammatory skin from psoriasis patients, but not in normal skin.
Sequence
Sequence length 507
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (3)
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
MIGRAINE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TRICHILEMMAL CYST — Disgenet, GenCC
Disgenet, GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Ovarian Epithelial Associate 24190013
★★★★★
★☆☆☆☆
Found in Text Mining only