Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	140683
Gene name	BPI fold containing family A member 2
Gene symbol	BPIFA2
Synonyms (NCBI Gene)	C20orf70PSPSPLUNC2bA49G10.1
Chromosome	20
Chromosome location	20q11.21
Summary	This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded s

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001530	Function	Lipopolysaccharide binding	IBA
GO:0001530	Function	Lipopolysaccharide binding	IDA	21833535
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005576	Component	Extracellular region	IDA	19499239, 21833535
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	28775000
GO:0008289	Function	Lipid binding	IEA
GO:0030141	Component	Secretory granule	IBA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
621166	16203	ENSG00000131050

Q96DR5

Protein name

BPI fold-containing family A member 2 (Parotid secretory protein) (PSP) (Short palate, lung and nasal epithelium carcinoma-associated protein 2)

Protein function

Has strong antibacterial activity against P.aeruginosa.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01273	LBP_BPI_CETP	54 → 227	LBP / BPI / CETP family, N-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in submandibular gland. Secreted into saliva. {ECO:0000269|PubMed:11971875, ECO:0000269|PubMed:24581853}.

Sequence

MLQLWKLVLLCGVLTGTSESLLDNLGNDLSNVVDKLEPVLHEGLETVDNTLKGILEKLKV
DLGVLQKSSAWQLAKQKAQEAEKLLNNVISKLLPTNTDIFGLKISNSLILDVKAEPIDDG
KGLNLSFPVTANVTVAGPIIGQIINLKASLDLLTAVTIETDPQTHQPVAVLGECASDPTS
ISLSLLDKHSQIINKFVNSVINTLKSTVSSLLQKEICPLIRIFIHSLDVNVIQQVVDNPQ
HKTQLQTLI

Sequence length

249

Interactions

View interactions

	Reactome
			Antimicrobial peptides

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 (2)

Phenotype Name	Clinical Significance	Source	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.
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Asthma	Stimulate	36012391	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Associate	26290361	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans Syndrome	Inhibit	33682222	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Associate	18221458	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	26474385	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Stimulate	36012391	★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Associate	39201484	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xerostomia	Associate	33682222	★★★★★ ★☆☆☆☆ Found in Text Mining only

BPIFA2 (BPI fold containing family A member 2)