BPIFB4 (BPI fold containing family B member 4)

Gene

• Entrez ID: 149954
• Gene name: BPI fold containing family B member 4
• Gene symbol: BPIFB4
• Synonyms (NCBI Gene): C20orf186, LPLUNC4, RY2G5, dJ726C3.5
• Chromosome: 20
• Chromosome location: 20q11.21

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0008289	Function	Lipid binding	IEA
GO:0015629	Component	Actin cytoskeleton	IDA

Other IDs

• MIM: 615718
• HGNC: 16179
• e!Ensembl: ENSG00000186191

Protein

• UniProt ID: P59827
• Protein name: BPI fold-containing family B member 4 (Ligand-binding protein RY2G5) (Long palate, lung and nasal epithelium carcinoma-associated protein 4)
• Protein function: May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01273	LBP_BPI_CETP	197 → 342	LBP / BPI / CETP family, N-terminal domain	Family
  PF02886	LBP_BPI_CETP_C	394 → 614	LBP / BPI / CETP family, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in nasal tissue. {ECO:0000269|PubMed:11971875}.
• Sequence:

  MWMAWCVAALSVVAVCGTSHETNTVLRVTKDVLSNAISGMLQQSDALHSALREVPLGVGD
  IPYNDFHVRGPPPVYTNGKKLDGIYQYGHIETNDNTAQLGGKYRYGEILESEGSIRDLRN
  SGYRSAENAYGGHRGLGRYRAAPVGRLHRRELQPGEIPPGVATGAVGPGGLLGTGGMLAA
  DGILAGQGGLLGGGGLLGDGGLLGGGGVLGVLGEGGILSTVQGITGLRIVELTLPRVSVR
  LLPGVGVYLSLYTRVAINGKSLIGFLDIAVEVNITAKVRLTMDRTGYPRLVIERCDTLLG
  GIKVKLLRGLLPNLVDNLVNRVLADVLPDLLCPIVDVVLGLVNDQLGLVDSLIPLGILGS
  VQYTFSSLPLVTGEFLELDLNTLVGEAGGGLIDYPLGWPAVSPKPMPELPPMGDNTKSQL
  AMSANFLGSVLTLLQKQHALDLDITNGMFEELPPLTTATLGALIPKVFQQYPESCPLIIR
  IQVLNPPSVMLQKDKALVKVLATAEVMVSQPKDLETTICLIDVDTEFLASFSTEGDKLMI
  DAKLEKTSLNLRTSNVGNFDIGLMEVLVEKIFDLAFMPAMNAVLGSGVPLPKILNIDFSN
  ADIDVLEDLLVLSA

• Sequence length: 614

Pathways

Reactome:

Antimicrobial peptides

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arteriosclerosis	Arteriosclerosis	BEFREE	31289820		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31289820		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32547549	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28419216, 30347645, 31289820		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32547549	Inhibit	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	31289820		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35053408	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35053408	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28852218, 31249326		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35053408	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	30377885	Associate	★☆☆☆☆ Found in Text Mining only