Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	80341
Gene name	BPI fold containing family B member 2
Gene symbol	BPIFB2
Synonyms (NCBI Gene)	BPIL1C20orf184LPLUNC2RYSRdJ726C3.2
Chromosome	20
Chromosome location	20q11.21
Summary	This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromos

6 Show/Hide all (6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0008289	Function	Lipid binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
614108	16177	ENSG00000078898

Q8N4F0

Protein name

BPI fold-containing family B member 2 (Bactericidal/permeability-increasing protein-like 1) (BPI-like 1) (Long palate, lung and nasal epithelium carcinoma-associated protein 2) (RYSR)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01273	LBP_BPI_CETP	33 → 187	LBP / BPI / CETP family, N-terminal domain	Family
PF02886	LBP_BPI_CETP_C	231 → 456	LBP / BPI / CETP family, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in tonsils, especially in hypertrophic tonsils. Detected at very low levels in fetal liver. {ECO:0000269|PubMed:12837268}.

Sequence

MAWASRLGLLLALLLPVVGASTPGTVVRLNKAALSYVSEIGKAPLQRALQVTVPHFLDWS
GEALQPTRIRILNVHVPRLHLKFIAGFGVRLLAAANFTFKVFRAPEPLELTLPVELLADT
RVTQSSIRTPVVSISACSLFSGHANEFDGSNSTSHALLVLVQKHIKAVLSNKLCLSISNL
VQGVNVHLGTLIGLNPVGPESQIRYSMVSVPTVTSDYISLEVNAVLFLLGKPIILPTDAT
PFVLPRHVGTEGSMATVGLSQQLFDSALLLLQKAGALNLDITGQLRSDDNLLNTSALGRL
IPEVARQFPEPMPVVLKVRLGATPVAMLHTNNATLRLQPFVEVLATASNSAFQSLFSLDV
VVNLRLQLSVSKVKLQGTTSVLGDVQLTVASSNVGFIDTDQVRTLMGTVFEKPLLDHLNA
LLAMGIALPGVVNLHYVAPEIFVYEGYVVISSGLFYQS

Sequence length

458

Interactions

View interactions

Reactome Pathway
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Antimicrobial peptides
Post-translational protein phosphorylation

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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.
Cervical cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (6)
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35240266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	22676062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	22676062, 33506054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35240266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BPIFB2 (BPI fold containing family B member 2)

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