BPIFA2 BPI fold containing family A member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BPIFA2provided by HGNC
Official Full Name: BPI fold containing family A member 2provided by HGNC
Primary source: HGNC:HGNC:16203
See related: Ensembl:ENSG00000131050 AllianceGenome:HGNC:16203
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PSP; SPLUNC2; C20orf70; bA49G10.1
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 soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression: Restricted expression toward salivary gland (RPKM 1129.7) See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (33161770..33181412)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (34888999..34908644)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (31749576..31769218)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PSP is a lipopolysaccharide-binding protein that is functionally related to lipopolysaccharide-binding protein, as suggested by their predicted structural similarities
Title: Human parotid secretory protein is a lipopolysaccharide-binding protein: identification of an anti-inflammatory peptide domain.
multiple SPLUNC2 isoforms are found in the oral cavity and suggest that these proteins may be differentially regulated in distinct tissues where they may function in the innate immune response.
Title: Characterisation and expression of SPLUNC2, the human orthologue of rodent parotid secretory protein.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

L29953 (e-PCR)
- UniSTS:52164

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipopolysaccharide binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipopolysaccharide binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: BPI fold-containing family A member 2

Names: parotid secretory protein; short palate, lung and nasal epithelium carcinoma-associated protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001319164.2 → NP_001306093.1 BPI fold-containing family A member 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL121901, AY359055

Consensus CDS

CCDS13214.1

UniProtKB/Swiss-Prot

Q96DR5, Q9BQQ0

UniProtKB/TrEMBL

A8K739

Related

ENSP00000253362.2, ENST00000253362.6

Conserved Domains (1) summary

pfam01273
Location:62 → 227

LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain
NM_080574.4 → NP_542141.1 BPI fold-containing family A member 2 precursor

See identical proteins and their annotated locations for NP_542141.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC065726

Consensus CDS

CCDS13214.1

UniProtKB/Swiss-Prot

Q96DR5, Q9BQQ0

UniProtKB/TrEMBL

A8K739

Related

ENSP00000347012.5, ENST00000354932.6

Conserved Domains (1) summary

pfam01273
Location:62 → 227

LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

33161770..33181412

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

34888999..34908644

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322994.1 → XP_054178969.1 BPI fold-containing family A member 2 isoform X1

UniProtKB/Swiss-Prot

Q96DR5, Q9BQQ0
XM_054322993.1 → XP_054178968.1 BPI fold-containing family A member 2 isoform X1

UniProtKB/Swiss-Prot

Q96DR5, Q9BQQ0
XM_054322995.1 → XP_054178970.1 BPI fold-containing family A member 2 isoform X1

UniProtKB/Swiss-Prot

Q96DR5, Q9BQQ0