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BPIFB2 Gene

protein-coding   GIFtS: 40
GCID: GC20P031596

BPI Fold Containing Family B, Member 2

(Previous name: bactericidal/permeability-increasing protein-like 1)
(Previous symbols: C20orf184, BPIL1)
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(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 21 2     LPLUNC22 3
BPIL11 2 3 5     RYSR2 3
Bactericidal/Permeability-Increasing Protein-Like 11 2 3     BPI-Like 12 3
C20orf1841 2 3     BPI Fold-Containing Family B Member 22
Long Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 22 3     dJ726C3.22

External Ids:    HGNC: 161771   Entrez Gene: 803412   Ensembl: ENSG000000788987   OMIM: 6141085   UniProtKB: Q8N4F03   

Export aliases for BPIFB2 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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Entrez Gene summary for BPIFB2 Gene:
This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is
highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a
cluster on the long arm of chromosome 20. (provided by RefSeq, Jul 2008)

GeneCards Summary for BPIFB2 Gene:
BPIFB2 (BPI fold containing family B, member 2) is a protein-coding gene. GO annotations related to this gene include lipid binding. An important paralog of this gene is BPIFB4.

Gene Wiki entry for BPIFB2 (BPIL1) Gene


(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 at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   Search for regulatory transcription factor binding sites for BPIFB2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBPIFB2 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BPIFB2


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

BPIFB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPIFB2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P031596:  view genomic region     (about GC identifiers)

Start:
31,595,406 bp from pter      End:
31,611,515 bp from pter
Size:
16,110 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BPIB2_HUMAN, Q8N4F0 (See protein sequence)
Recommended Name: BPI fold-containing family B member 2 precursor  
Size: 458 amino acids; 49172 Da
Secondary accessions: Q6UWN3 Q6ZME0 Q8NFQ7

Explore the universe of human proteins at neXtProt for BPIFB2: NX_Q8N4F0

Explore proteomics data for BPIFB2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn96, Asn151, Asn293, Asn332

  • See BPIFB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079503.1  
    ENSEMBL proteins: 
     ENSP00000170150  

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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 Q8N4F0

    ProtoNet protein and cluster: Q8N4F0

    UniProtKB/Swiss-Prot: BPIB2_HUMAN, Q8N4F0
    Similarity: Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family


    Find genes that share domains with BPIFB2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008289lipid binding IEA--
         
    Find genes that share ontologies with BPIFB2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BPIFB2:
     Increased G2M DNA content 

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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
    BPIB2_HUMAN, Q8N4F0: Secreted (By similarity)

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with BPIFB2           About GenesLikeMe


    (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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    Interactions:

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    (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 Tocris compounds for BPIFB2 (BPIB2)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BPIFB2 gene: 
    NM_025227.2  

    Unigene Cluster for BPIFB2:

    BPI fold containing family B, member 2
    Hs.257045  [show with all ESTs]
    Unigene Representative Sequence: NM_025227
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000170150(uc002wyj.3)
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    Additional mRNA sequence: 

    AF465765.1 AK027068.1 AK172819.1 AK304064.1 AY358723.1 BC034415.1 

    2 DOTS entries:

    DT.92031367  DT.120807540 

    18 AceView cDNA sequences:

    AF465765 BX280449 NM_025227 BF512164 BP333980 BI489783 AY358723 BC034415 
    AK172819 AK027068 AI834221 AW155639 AJ403124 BX487536 AJ403122 CD697627 
    AW444867 BP334787 

    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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    BPIFB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAATTGCCC
    BPIFB2 Expression
    About this image

    BPIFB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BPIFB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.257045

    UniProtKB/Swiss-Prot: BPIB2_HUMAN, Q8N4F0
    Tissue specificity: Highly expressed in tonsils, especially in hypertrophic tonsils. Detected at very low levels
    in fetal liver

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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 BPIFB2 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bpifb21 , 5 BPI fold containing family B, member 21, 5 77.85(n)1
    68.48(a)1
      2 (75.99 cM)5
    665571  NM_025631.31  NP_079907.21 
     1538750455 
    chicken
    (Gallus gallus)
    Aves BPIFB86
    Gallus gallus Ovocalyxin-36 (BPIFB8), mRNA.
    17(a)
    many ↔ many
    20(10633103-10644913)
    lizard
    (Anolis carolinensis)
    Reptilia BPIFB26
    BPI fold containing family B, member 2
    35(a)
    1 ↔ 1
    GL343525.1(475384-495695)


    ENSEMBL Gene Tree for BPIFB2 (if available)
    TreeFam Gene Tree for BPIFB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BPIFB2 gene
    BPIFB42  BPIFB62  BPIFB32  

    Find genes that share paralogs with BPIFB2           About GenesLikeMe



    (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 BPIFB2 (see all 511)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365504
    A colorectal cancer sample4--see VAR_0365502 A V mis40--------
    rs1410403251,2
    --31601146(+) TTCCTC/GTCCTA 1 -- us2k10--------
    rs600768871,2
    C,F--31601165(+) AGCAAG/AGAACA 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs60880641,2
    H--31601189(+) acttcC/Tttgat 1 -- us2k14Minor allele frequency- T:0.00NS EA 408
    rs1170797161,2
    F--31601204(+) GCCCAG/CGGAGA 1 -- us2k11Minor allele frequency- C:0.01EA 120
    rs1899728581,2
    C--31601301(+) AACAGA/GACACC 1 -- us2k10--------
    rs1830921691,2
    --31601338(+) TGAAGA/GGGAAA 1 -- us2k10--------
    rs60880651,2
    H--31601346(+) AAACTC/ATGAAA 1 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs622075011,2
    C,F--31601484(+) CCCTGC/TGGATG 1 -- us2k12Minor allele frequency- T:0.07NA EA 240
    rs60590131,2
    C,F,A,H--31601567(+) GAGCCG/AGTTGA 1 -- us2k131Minor allele frequency- A:0.22NS EA NA WA CSA 3188

    HapMap Linkage Disequilibrium report for BPIFB2 (31595406 - 31611515 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for BPIFB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3351CNV Insertion18451855
    nsv3352CNV Loss18451855
    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: 614108    OMIM disorders: --


    Find genes that share disorders with BPIFB2           About GenesLikeMe


    Export disorders for BPIFB2 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 BPIFB2 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with BPIFB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP). (PubMed id 12185532)1, 2, 3 Mulero J.J.... Rupp F. (Immunogenetics 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. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)1, 2 Ramachandran P....Loo J.A. (J. Proteome Res. 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    7. 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)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    9. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)
    10. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)

    (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: 80341 HGNC: 16177 AceView: BPIL1 Ensembl:ENSG00000078898 euGenes: HUgn80341
    ECgene: BPIFB2 H-InvDB: BPIFB2

    (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 BPIFB2 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 BPIFB2 gene:
    Search GeneIP for patents involving BPIFB2

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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