BPIFC (BPI fold containing family C)

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Gene Gene information from NCBI Gene database.
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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.
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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.
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MIM HGNC e!Ensembl
614109 16503 ENSG00000184459
Protein Protein information from UniProt database.
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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 
MCTKTIPVLWGCFLLWNLYVSSSQTIYPGIKARITQRALDYGVQAGMKMIEQMLKEKKLP
DLSGSESLEFLKVDYVNYNFSNIKISAFSFPNTSLAFVPGVGIKALTNHGTANISTDWGF
ESPLFQDTGGADLFLSGVYFTGIIILTRNDFGHPTLKLQDCYAQLSHAHVSFSGELSVLY
NSFAEPMEKPILKNLNEMLCPIIASEVKALNANLSTLEVLTKIDNYTLLDYSLISSPEIT
ENYLDLNLKGVFYPLENLTDPPFSPVPFVLPERSNSMLYIGIAEYFFKSASFAHFTAGVF
NVTLSTEEISNHFVQNSQGLGNVLSRIAEIYILSQPFMVRIMATEPPIINLQPGNFTLDI
PASIMMLTQPKNSTVETIVSMDFVASTSVGLVILGQRLVCSLSLNRFRLALPESNRSNIE
VLRFENILSSILHFGVLPLANAKLQQGFPLSNPHKFLFVNSDIEVLEGFLLISTDLKYET
SSKQQPSFHVWEGLNLISRQWRGKSAP
Sequence length 507
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 Reference Evidence Score
MIGRAINE DISORDER — GWAS catalog 23793025
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA — GWAS catalog 23793025
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TRICHILEMMAL CYST — Disgenet, GenCC
Disgenet, GenCC 		—
★★★★★
★★☆☆☆
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
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 24190013 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 24190013
★★★★★
★☆☆☆☆
Found in Text Mining only
Epithelial ovarian cancer Ovarian cancer BEFREE 24190013
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for BPIFC.

No additional diseases found yet through genes similar to BPIFC.