Free for academic non-profit institutions. Other users need a Commercial license

BPIFB4 Gene(Protein Coding)

BPI Fold Containing Family B Member 4

GCID:
GC20P033079
GIFtS:
38
Genes Participants
UDN Logo

Aliases for BPIFB4 Gene

Aliases for BPIFB4 Gene

  • BPI Fold Containing Family B Member 4 2 3 5
  • Long Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 4 3 4
  • Ligand-Binding Protein RY2G5 3 4
  • C20orf186 3 4
  • LPLUNC4 3 4
  • Long Palate, Lung And Nasal Epithelium Carcinoma Associated 4 3
  • Likely Ortholog Of Rat Probable Ligand-Binding Protein RY2G5 3
  • BPI Fold-Containing Family B Member 4 3
  • Chromosome 20 Open Reading Frame 186 2
  • DJ726C3.5 3
  • RY2G5 3

External Ids for BPIFB4 Gene

Previous HGNC Symbols for BPIFB4 Gene

  • C20orf186

Previous GeneCards Identifiers for BPIFB4 Gene

  • GC20P031668

Summaries for BPIFB4 Gene

GeneCards Summary for BPIFB4 Gene

BPIFB4 (BPI Fold Containing Family B Member 4) is a Protein Coding gene. Among its related pathways are Innate Immune System and Defensins. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is BPIFB3.

UniProtKB/Swiss-Prot for BPIFB4 Gene

  • May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity).

Additional gene information for BPIFB4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BPIFB4 Gene

Genomics for BPIFB4 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for BPIFB4 Gene

Promoters and enhancers for BPIFB4 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
GH20I033106 Enhancer 0.9 ENCODE 11.8 +26.6 26626 0.2 ELF3 FOXA2 MLX ARID4B DNMT3B ZSCAN9 RAD21 RARA YY1 ATF7 BPIFB4 GC20P033090 LOC105372714
GH20I032902 Enhancer 0.8 ENCODE 11.5 -177.0 -176974 0.2 ARID4B ZNF48 RAD21 ZNF121 GLIS2 ARID2 ZNF143 MIXL1 DEK ZNF654 BPIFB4 SUN5 EFCAB8 ENSG00000224876 BPIFA3 PIR55937
GH20I032894 Enhancer 0.7 ENCODE 11.2 -185.4 -185374 0.2 ELF3 CTCF RB1 SAP130 SIN3A ZIC2 ZNF48 RAD21 TEAD3 GLIS2 MAPRE1 EFCAB8 BPIFB4 ENSG00000260257 PIR55937
GH20I032807 Enhancer 0.7 ENCODE 10.4 -271.6 -271646 1.8 ZBTB21 KLF17 BACH1 SIN3A ZIC2 ZEB1 ZNF366 POLR2A ZBTB48 PATZ1 GC20P032809 EFCAB8 BPIFB4 BPIFA3 ENSG00000224876 ENSG00000260257 COMMD7 DNMT3B
GH20I032945 Enhancer 0.6 ENCODE 10.5 -133.5 -133536 0.9 CTCF ARNT ZNF384 RAD21 TGIF2 SCRT2 MBD1 SMC3 ZBTB26 SUN5 BPIFB4 MAPRE1 PIR55937 EFCAB8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BPIFB4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BPIFB4 Gene

Genomic Locations for BPIFB4 Gene
chr20:33,079,644-33,111,751
(GRCh38/hg38)
Size:
32,108 bases
Orientation:
Plus strand
chr20:31,667,450-31,699,557
(GRCh37/hg19)

Genomic View for BPIFB4 Gene

Genes around BPIFB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPIFB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPIFB4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BPIFB4 Gene

Proteins for BPIFB4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for BPIFB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59827-BPIB4_HUMAN
    Recommended name:
    BPI fold-containing family B member 4
    Protein Accession:
    P59827
    Secondary Accessions:
    • Q5TDX6

    Protein attributes for BPIFB4 Gene

    Size:
    614 amino acids
    Molecular mass:
    65055 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI22532.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for BPIFB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BPIFB4 Gene

Protein Expression for BPIFB4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BPIFB4 Gene

  • Glycosylation at Asn273
  • Modification sites at PhosphoSitePlus

Other Protein References for BPIFB4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BPIFB4 Gene

Domains & Families for BPIFB4 Gene

Gene Families for BPIFB4 Gene

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

Protein Domains for BPIFB4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BPIFB4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P59827

UniProtKB/Swiss-Prot:

BPIB4_HUMAN :
  • Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
Family:
  • Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
genes like me logo Genes that share domains with BPIFB4: view

Function for BPIFB4 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for BPIFB4 Gene

UniProtKB/Swiss-Prot Function:
May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity).

Phenotypes From GWAS Catalog for BPIFB4 Gene

Gene Ontology (GO) - Molecular Function for BPIFB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with BPIFB4: view

Phenotypes for BPIFB4 Gene

GenomeRNAi human phenotypes for BPIFB4:
genes like me logo Genes that share phenotypes with BPIFB4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for BPIFB4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BPIFB4 Gene

Localization for BPIFB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BPIFB4 Gene

Secreted. Cytoplasm.

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 BPIFB4 gene
Compartment Confidence
extracellular 4
plasma membrane 2
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BPIFB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with BPIFB4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BPIFB4 Gene

Pathways & Interactions for BPIFB4 Gene

genes like me logo Genes that share pathways with BPIFB4: view

Pathways by source for BPIFB4 Gene

3 Reactome pathways for BPIFB4 Gene

Interacting Proteins for BPIFB4 Gene

Gene Ontology (GO) - Biological Process for BPIFB4 Gene

None

No data available for SIGNOR curated interactions for BPIFB4 Gene

Drugs & Compounds for BPIFB4 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for BPIFB4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BPIFB4 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BPIFB4 Gene

BPI fold containing family B, member 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BPIFB4 Gene

No ASD Table

Relevant External Links for BPIFB4 Gene

GeneLoc Exon Structure for
BPIFB4
ECgene alternative splicing isoforms for
BPIFB4

Expression for BPIFB4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BPIFB4 Gene

mRNA expression in normal human tissues for BPIFB4 Gene
mRNA expression by GTEx for BPIFB4 Gene

mRNA differential expression in normal tissues according to GTEx for BPIFB4 Gene

This gene is overexpressed in Pituitary (x43.8).

Protein differential expression in normal tissues from HIPED for BPIFB4 Gene

This gene is overexpressed in Nasal epithelium (65.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BPIFB4 Gene



Protein tissue co-expression partners for BPIFB4 Gene

NURSA nuclear receptor signaling pathways regulating expression of BPIFB4 Gene:

BPIFB4

SOURCE GeneReport for Unigene cluster for BPIFB4 Gene:

Hs.38961

mRNA Expression by UniProt/SwissProt for BPIFB4 Gene:

P59827-BPIB4_HUMAN
Tissue specificity: Expressed in nasal tissue.

Evidence on tissue expression from TISSUES for BPIFB4 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with BPIFB4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for BPIFB4 Gene

Orthologs for BPIFB4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BPIFB4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia BPIFB4 33 34
  • 98.76 (n)
dog
(Canis familiaris)
 Mammalia BPIFB4 33 34
  • 87.97 (n)
cow
(Bos Taurus)
 Mammalia BPIFB4 33 34
  • 87.24 (n)
oppossum
(Monodelphis domestica)
 Mammalia BPIFB4 34
  • 84 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Bpifb4 33 16 34
  • 82.92 (n)
rat
(Rattus norvegicus)
 Mammalia Bpifb4 33
  • 82.54 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia BPIFB4 34
  • 62 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BPIFB4 33 34
  • 66.75 (n)
lizard
(Anolis carolinensis)
 Reptilia BPIFB4 34
  • 52 (a)
 OneToOne
Species where no ortholog for BPIFB4 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 BPIFB4 Gene

ENSEMBL:
Gene Tree for BPIFB4 (if available)
TreeFam:
Gene Tree for BPIFB4 (if available)

Paralogs for BPIFB4 Gene

Paralogs for BPIFB4 Gene

(3) SIMAP similar genes for BPIFB4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BPIFB4: view

Variants for BPIFB4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for BPIFB4 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000128675 -- 33,103,406(+) C/T intron_variant
rs1000160426 -- 33,091,520(+) C/T intron_variant
rs1000175630 -- 33,109,578(+) C/T intron_variant
rs1000331086 -- 33,080,979(+) A/G upstream_transcript_variant
rs1000493677 -- 33,090,198(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BPIFB4 Gene

Variant ID Type Subtype PubMed ID
esv2659207 CNV deletion 23128226
esv2672617 CNV deletion 23128226
esv2722351 CNV deletion 23290073
esv2758792 CNV loss 17122850
esv3567953 CNV loss 25503493
esv3645677 CNV loss 21293372
nsv1056411 CNV loss 25217958
nsv1058853 CNV loss 25217958
nsv1117431 CNV deletion 24896259
nsv1130767 CNV deletion 24896259

Variation tolerance for BPIFB4 Gene

Residual Variation Intolerance Score: 75.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 24.22; 99.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BPIFB4 Gene

Human Gene Mutation Database (HGMD)
BPIFB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPIFB4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPIFB4 Gene

Disorders for BPIFB4 Gene

Additional Disease Information for BPIFB4

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for BPIFB4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BPIFB4 Gene

Publications for BPIFB4 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. Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily. (PMID: 21787333) Bingle CD … Craven CJ (Biochemical Society transactions 2011) 2 3 58
  3. Phylogenetic and evolutionary analysis of the PLUNC gene family. (PMID: 14739326) Bingle CD … Craven CJ (Protein science : a publication of the Protein Society 2004) 3 4 58
  4. Expansion of the BPI family by duplication on human chromosome 20: characterization of the RY gene cluster in 20q11.21 encoding olfactory transporters/antimicrobial-like peptides. (PMID: 12837268) Andrault JB … Rouquier S (Genomics 2003) 3 4 58
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58

Products for BPIFB4 Gene

Sources for BPIFB4 Gene

Content
Loading form....