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

    Gene ID: 140683, updated on 3-Apr-2024

    Summary

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    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

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    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_000020.11Genomic Context describing neighboring genes Neighboring gene BPI fold containing family B member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17726 Neighboring gene uncharacterized LOC105372714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31754103-31754604 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31754605-31755104 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31765427-31765928 Neighboring gene suppressor of cytokine signaling 2 pseudogene 1 Neighboring gene BPI fold containing family A member 4, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Isolation, biochemical characterization and anti-bacterial activity of BPIFA2 protein. Prokopovic V, et al. Arch Oral Biol, 2014 Mar. PMID 24581853
    2. Dual host-defence functions of SPLUNC2/PSP and synthetic peptides derived from the protein. Gorr SU, et al. Biochem Soc Trans, 2011 Aug. PMID 21787342, Free PMC Article
    3. Expression of PLUNC family members in benign and malignant salivary gland tumours. Vargas PA, et al. Oral Dis, 2008 Oct. PMID 18221458, Free PMC Article
    4. Human parotid secretory protein is a lipopolysaccharide-binding protein: identification of an anti-inflammatory peptide domain. Abdolhosseini M, et al. Mol Cell Biochem, 2012 Jan. PMID 21833535, Free PMC Article
    5. Characterisation and expression of SPLUNC2, the human orthologue of rodent parotid secretory protein. Bingle L, et al. Histochem Cell Biol, 2009 Sep. PMID 19499239

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 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)

    1. 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

    2. 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

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      33161770..33181412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      34888999..34908644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q96DR5, Q9BQQ0

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

      UniProtKB/Swiss-Prot
      Q96DR5, Q9BQQ0

    3. XM_054322995.1 → XP_054178970.1  BPI fold-containing family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DR5, Q9BQQ0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DR5.2 GenPept UniProtKB/Swiss-Prot:Q96DR5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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