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BPIFB4 Gene

protein-coding   GIFtS: 39
GCID: GC20P031668

BPI Fold Containing Family B, Member 4

(Previous name: chromosome 20 open reading frame 186)
(Previous symbol: C20orf186)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BPI Fold Containing Family B, Member 41 2     Chromosome 20 Open Reading Frame 1861
C20orf1861 2 3     BPI Fold-Containing Family B Member 42
Ligand-Binding Protein RY2G52 3     dJ726C3.52
Long Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 42 3     Likely Ortholog Of Rat Probable Ligand-Binding Protein RY2G52
LPLUNC42 3     Long Palate, Lung And Nasal Epithelium Carcinoma Associated 42
RY2G52 5     

External Ids:    HGNC: 161791   Entrez Gene: 1499542   Ensembl: ENSG000001861917   OMIM: 6157185   UniProtKB: P598273   

Export aliases for BPIFB4 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BPIFB4 Gene:
BPIFB4 (BPI fold containing family B, member 4) is a protein-coding gene. Diseases associated with BPIFB4 include hepatitis b, and hepatitis. GO annotations related to this gene include lipid binding. An important paralog of this gene is BPIFB6.

UniProtKB/Swiss-Prot: BPIB4_HUMAN, P59827
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Search for regulatory transcription factor binding sites for BPIFB4
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for BPIFB4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BPIFB4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.21

BPIFB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPIFB4 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P031668:  view genomic region     (about GC identifiers)

Start:
31,667,450 bp from pter      End:
31,699,557 bp from pter
Size:
32,108 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BPIB4_HUMAN, P59827 (See protein sequence)
Recommended Name: BPI fold-containing family B member 4 precursor  
Size: 614 amino acids; 65055 Da
Sequence caution: Sequence=CAI22532.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5TDX6
Alternative splicing: 2 isoforms:  P59827-1   P59827-2   

Explore the universe of human proteins at neXtProt for BPIFB4: NX_P59827

Explore proteomics data for BPIFB4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn273

  • See BPIFB4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_872325.2  
    ENSEMBL proteins: 
     ENSP00000388423   ENSP00000364632  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BPIF: BPI fold containing

    3 InterPro protein domains:
     IPR017942 Lipid-bd_serum_glycop_N
     IPR017943 Bactericidal_perm-incr_a/b_dom
     IPR001124 Lipid-bd_serum_glycop_C

    Graphical View of Domain Structure for InterPro Entry P59827

    ProtoNet protein and cluster: P59827

    1 Blocks protein domain: IPB001124 Lipid-binding serum glycoprotein

    UniProtKB/Swiss-Prot: BPIB4_HUMAN, P59827
    Similarity: Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family


    BPIFB4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BPIB4_HUMAN, P59827
    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)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008289lipid binding IEA--
         
    BPIFB4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BPIFB4:
     Decreased viability of wild-ty 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BPIB4_HUMAN, P59827: Secreted (By similarity). Cytoplasm

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--

    BPIFB4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BPIFB4
    Interactions:

        Search GeneGlobe Interaction Network for BPIFB4

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BPIFB4 (BPIB4)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BPIFB4 gene: 
    NM_182519.2  

    Unigene Cluster for BPIFB4:

    BPI fold containing family B, member 4
    Hs.38961  [show with all ESTs]
    Unigene Representative Sequence: NM_182519
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000445356 ENST00000375483(uc010zue.2) ENST00000494121
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    Additional mRNA sequence: AF549190.1 

    2 DOTS entries:

    DT.101975507  DT.100749797 

    20 AceView cDNA sequences:

    H64406 AF549190 H65115 NM_182519 H64418 AL935096 CB131812 CB134952 
    H70942 CB134975 BU617498 AL935077 H64469 CB133098 AL935078 H64455 
    H71030 AL935099 H65167 AL935101 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BPIFB4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BPIFB4 Expression
    About this image

    BPIFB4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BPIFB4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.38961

    UniProtKB/Swiss-Prot: BPIB4_HUMAN, P59827
    Tissue specificity: Expressed in nasal tissue

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BPIFB4 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bpifb41 , 5 BPI fold containing family B, member 41, 5 82.92(n)1
    86.42(a)1
      2 (75.99 cM)5
    3813991  NM_001034875.31  NP_001030047.21 
     1539382125 
    chicken
    (Gallus gallus)
    Aves BPIFB41 BPI fold containing family B, member 4 66.75(n)
    65.24(a)
      428160  XM_425718.4  XP_425718.4 
    lizard
    (Anolis carolinensis)
    Reptilia BPIFB46
    BPI fold containing family B, member 4
    52(a)
    1 ↔ 1
    GL343525.1(344231-363635)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BPIFB4 gene
    BPIFB62  BPIFB32  BPIFB22  
    3 SIMAP similar genes for BPIFB4 using alignment to 2 protein entries:     BPIB4_HUMAN (see all proteins):
    BPIFB6    BPIFB3    C20orf185

    BPIFB4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BPIFB4 (see all 915)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1158188161,2
    F--31667322(+) TTTGGG/AGCTCA 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1848284971,2
    --31667337(+) CCAATC/TTGCAG 1 -- us2k10--------
    rs1439126081,2
    --31667371(+) TGTAAG/TTACAC 1 -- us2k10--------
    rs413057851,2
    C,F--31667491(+) CTCAGC/TGGCAG 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs1885499471,2
    --31667663(+) GGAGAA/GCCTCT 1 -- us2k10--------
    rs130444281,2
    C,F,A,H--31667694(+) TGGGTT/CATGCC 1 -- us2k1 tfbs329Minor allele frequency- C:0.38NA NS EA WA CSA 2895
    rs1448628001,2
    --31667713(+) GCATGC/TGCAGA 1 -- us2k10--------
    rs1485079881,2
    --31667714(+) CATGCA/GCAGAG 1 -- us2k10--------
    rs796038311,2
    F--31667725(+) CTGCAC/TTCATC 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs763544501,2
    F--31667729(+) ACTCAT/ACTTTC 1 -- us2k11Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for BPIFB4 (31667450 - 31699557 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for BPIFB4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672617CNV Deletion23128226
    esv2722351CNV Deletion23290073
    esv2659207CNV Deletion23128226
    essv2996CNV CNV17122850
    dgv1325e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615718    OMIM disorders: --

    2 diseases for BPIFB4:    
    About MalaCards
    hepatitis b    hepatitis


    BPIFB4 for disorders           About GeneDecksing


    Export disorders for BPIFB4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BPIFB4 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with BPIFB4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. (PubMed id 11971875)1, 2, 3 Bingle C.D. and Craven C.J. (Hum. Mol. Genet. 2002)
    2. Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily. (PubMed id 21787333)1, 3 Bingle C.D....Craven C.J. (Biochem. Soc. Trans. 2011)
    3. 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. (PubMed id 12837268)1, 2 Andrault J.-B.... Rouquier S. (Genomics 2003)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    5. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)
    6. Phylogenetic and evolutionary analysis of the PLUNC gene family. (PubMed id 14739326)2 Bingle C.D....Craven C.J. (Protein Sci. 2004)
    7. Comparative analysis of the PLUNC (palate, lung and nasal epithelium clone) protein families. (PubMed id 12887310)1 Bingle C.D. and Craven C.J. (Biochem. Soc. Trans. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 149954 HGNC: 16179 AceView: C20orf186 Ensembl:ENSG00000186191 euGenes: HUgn149954
    ECgene: BPIFB4 H-InvDB: BPIFB4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BPIFB4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BPIFB4 gene:
    Search GeneIP for patents involving BPIFB4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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