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Aliases for BPIFA2 Gene

Aliases for BPIFA2 Gene

  • BPI Fold Containing Family A Member 2 2 3 5
  • Short Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 2 3 4
  • Parotid Secretory Protein 3 4
  • C20orf70 3 4
  • SPLUNC2 3 4
  • PSP 3 4
  • BPI Fold-Containing Family A Member 2 3
  • Chromosome 20 Open Reading Frame 70 2
  • BA49G10.1 3

External Ids for BPIFA2 Gene

Previous HGNC Symbols for BPIFA2 Gene

  • C20orf70

Previous GeneCards Identifiers for BPIFA2 Gene

  • GC20P031750

Summaries for BPIFA2 Gene

Entrez Gene Summary for BPIFA2 Gene

  • 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]

GeneCards Summary for BPIFA2 Gene

BPIFA2 (BPI Fold Containing Family A Member 2) is a Protein Coding gene. Diseases associated with BPIFA2 include Lacrimal Apparatus Disease. Among its related pathways are Defensins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include lipid binding and lipopolysaccharide binding.

UniProtKB/Swiss-Prot for BPIFA2 Gene

  • Has strong antibacterial activity against P. aeruginosa.

Additional gene information for BPIFA2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BPIFA2 Gene

Genomics for BPIFA2 Gene

GeneHancer (GH) Regulatory Elements for BPIFA2 Gene

Promoters and enhancers for BPIFA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J033163 Promoter 0.5 EPDnew 650.7 +1.7 1746 0.1 BPIFA2 BPIFB4 SOCS2P1
GH20J033168 Promoter 0.5 EPDnew 650.4 +6.4 6372 0.1 BPIFA2 BPIFB4 ENSG00000224876 SOCS2P1
GH20J033277 Enhancer 0.9 ENCODE 10.4 +116.5 116466 1.7 FOXA2 MLX ARID4B ZNF48 SLC30A9 NFKBIZ SP5 MXD4 PPARG KAT8 BPIFA1 BPIFA3 ENSG00000224876 BPIFA2 SUN5 EFCAB8 BPIFB1 PIR39691
GH20J033127 Enhancer 0.8 ENCODE 11.6 -33.8 -33788 0.1 ELF3 FOXA2 MLX DNMT3B ZSCAN9 RAD21 RARA YY1 SLC30A9 EGR1 BPIFA2 BPIFA3 ENSG00000224876 LOC105372714 GC20P033090
GH20J033777 Enhancer 1.3 FANTOM5 Ensembl ENCODE 5.2 +617.3 617277 2.8 HDGF PKNOX1 FOXA2 IRF4 ZNF207 ZNF143 ATF7 RUNX3 RXRA ZNF623 CDK5RAP1 ZNF341-AS1 CHMP4B ZNF341 ENSG00000229188 PXMP4 E2F1 BPIFA2 GC20M033791 RPL31P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BPIFA2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BPIFA2 Gene

Genomic Locations for BPIFA2 Gene
chr20:33,161,768-33,181,417
(GRCh38/hg38)
Size:
19,650 bases
Orientation:
Plus strand
chr20:31,749,574-31,769,223
(GRCh37/hg19)
Size:
19,650 bases
Orientation:
Plus strand

Genomic View for BPIFA2 Gene

Genes around BPIFA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPIFA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPIFA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BPIFA2 Gene

Proteins for BPIFA2 Gene

  • Protein details for BPIFA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DR5-BPIA2_HUMAN
    Recommended name:
    BPI fold-containing family A member 2
    Protein Accession:
    Q96DR5
    Secondary Accessions:
    • Q9BQQ0

    Protein attributes for BPIFA2 Gene

    Size:
    249 amino acids
    Molecular mass:
    27011 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BPIFA2 Gene

Post-translational modifications for BPIFA2 Gene

  • Glycosylation at Asn132 and Asn124

Other Protein References for BPIFA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BPIFA2 Gene

Domains & Families for BPIFA2 Gene

Gene Families for BPIFA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for BPIFA2 Gene

Suggested Antigen Peptide Sequences for BPIFA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96DR5

UniProtKB/Swiss-Prot:

BPIA2_HUMAN :
  • Belongs to the BPI/LBP/Plunc superfamily. Plunc family.
Family:
  • Belongs to the BPI/LBP/Plunc superfamily. Plunc family.
genes like me logo Genes that share domains with BPIFA2: view

Function for BPIFA2 Gene

Molecular function for BPIFA2 Gene

UniProtKB/Swiss-Prot Function:
Has strong antibacterial activity against P. aeruginosa.

Phenotypes From GWAS Catalog for BPIFA2 Gene

Gene Ontology (GO) - Molecular Function for BPIFA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding IDA 21833535
GO:0005515 protein binding IPI 25416956
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with BPIFA2: view
genes like me logo Genes that share phenotypes with BPIFA2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BPIFA2 Gene

Localization for BPIFA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BPIFA2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BPIFA2 gene
Compartment Confidence
extracellular 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for BPIFA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with BPIFA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BPIFA2 Gene

Pathways & Interactions for BPIFA2 Gene

genes like me logo Genes that share pathways with BPIFA2: view

Pathways by source for BPIFA2 Gene

3 Reactome pathways for BPIFA2 Gene

Interacting Proteins for BPIFA2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000253362%0d%0a9606.ENSP00000291860%0d%0a
Selected Interacting proteins: Q96DR5-BPIA2_HUMAN ENSP00000253362 for BPIFA2 Gene via IID UniProtKB STRING

Gene Ontology (GO) - Biological Process for BPIFA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019730 antimicrobial humoral response TAS --
GO:0042742 defense response to bacterium IEA --
genes like me logo Genes that share ontologies with BPIFA2: view

No data available for SIGNOR curated interactions for BPIFA2 Gene

Drugs & Compounds for BPIFA2 Gene

No Compound Related Data Available

Transcripts for BPIFA2 Gene

mRNA/cDNA for BPIFA2 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(63) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BPIFA2 Gene

BPI fold containing family A, member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BPIFA2 Gene

No ASD Table

Relevant External Links for BPIFA2 Gene

GeneLoc Exon Structure for
BPIFA2
ECgene alternative splicing isoforms for
BPIFA2

Expression for BPIFA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BPIFA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BPIFA2 Gene

This gene is overexpressed in Testis (x21.7), Kidney - Cortex (x6.9), Thyroid (x5.3), and Esophagus - Muscularis (x4.3).

Protein differential expression in normal tissues from HIPED for BPIFA2 Gene

This gene is overexpressed in Skin (46.9) and Salivary gland (19.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BPIFA2 Gene



Protein tissue co-expression partners for BPIFA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BPIFA2 Gene:

BPIFA2

SOURCE GeneReport for Unigene cluster for BPIFA2 Gene:

Hs.125960

mRNA Expression by UniProt/SwissProt for BPIFA2 Gene:

Q96DR5-BPIA2_HUMAN
Tissue specificity: Detected in submandibular gland. Secreted into saliva.

Evidence on tissue expression from TISSUES for BPIFA2 Gene

  • Saliva(4.5)
  • Thyroid gland(4)
genes like me logo Genes that share expression patterns with BPIFA2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BPIFA2 Gene

Orthologs for BPIFA2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BPIFA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BPIFA2 34 33
  • 98.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BPIFA2 34 33
  • 71.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bpifa2 16 34 33
  • 57.55 (n)
Gm21718 34
  • 27 (a)
OneToMany
Gm21850 34
  • 27 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bpifa2 33
  • 57.01 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 40 (a)
OneToMany
BPIFA2B 34
  • 39 (a)
OneToMany
BSP30D 34
  • 35 (a)
OneToMany
BSP30C 34
  • 31 (a)
OneToMany
Species where no ortholog for BPIFA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BPIFA2 Gene

ENSEMBL:
Gene Tree for BPIFA2 (if available)
TreeFam:
Gene Tree for BPIFA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BPIFA2: view image

Paralogs for BPIFA2 Gene

No data available for Paralogs for BPIFA2 Gene

Variants for BPIFA2 Gene

Sequence variations from dbSNP and Humsavar for BPIFA2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000008062 -- 33,163,458(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000027593 -- 33,169,165(+) T/C coding_sequence_variant, missense_variant
rs1000173478 -- 33,171,897(+) C/T intron_variant
rs1000364907 -- 33,160,125(+) T/C upstream_transcript_variant
rs1000393755 -- 33,166,131(+) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BPIFA2 Gene

Variant ID Type Subtype PubMed ID
esv2751912 CNV loss 17911159
esv3645678 CNV loss 21293372
nsv1056411 CNV loss 25217958
nsv1060241 CNV loss 25217958
nsv458964 CNV loss 19166990
nsv585926 CNV loss 21841781

Variation tolerance for BPIFA2 Gene

Residual Variation Intolerance Score: 84.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.88; 74.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BPIFA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPIFA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPIFA2 Gene

Disorders for BPIFA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BPIFA2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lacrimal apparatus disease
  • lacrimal apparatus diseases
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BPIFA2

genes like me logo Genes that share disorders with BPIFA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BPIFA2 Gene

Publications for BPIFA2 Gene

  1. PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. (PMID: 11971875) Bingle CD … Craven CJ (Human molecular genetics 2002) 2 3 4 58
  2. Isolation, biochemical characterization and anti-bacterial activity of BPIFA2 protein. (PMID: 24581853) Prokopovic V … Polovic N (Archives of oral biology 2014) 3 4 58
  3. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PMID: 16740002) Ramachandran P … Loo JA (Journal of proteome research 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58

Products for BPIFA2 Gene

Sources for BPIFA2 Gene

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