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BPIFB1 Gene

protein-coding   GIFtS: 43
GCID: GC20P031864

BPI Fold Containing Family B, Member 1

(Previous name: chromosome 20 open reading frame 114)
(Previous symbol: C20orf114)
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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 11 2     VEMSGP2 3
C20orf1141 2 3     Chromosome 20 Open Reading Frame 1141
Von Ebner Minor Salivary Gland Protein1 2 3     BPI Fold-Containing Family B Member 12
Long Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 12 3     Long Palate, Lung And Nasal Epithelium Carcinoma Associated 12
LPLUNC12 3     

External Ids:    HGNC: 161081   Entrez Gene: 927472   Ensembl: ENSG000001259997   UniProtKB: Q8TDL53   

Export aliases for BPIFB1 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 BPIFB1 Gene:
The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth,
nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein
superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. (provided by
RefSeq, Jul 2008)

GeneCards Summary for BPIFB1 Gene:
BPIFB1 (BPI fold containing family B, member 1) is a protein-coding gene. GO annotations related to this gene include lipid binding.

UniProtKB/Swiss-Prot: BPIB1_HUMAN, Q8TDL5
Function: May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS)
and modulates the cellular responses to LPS




(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 BPIFB1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for BPIFB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BPIFB1


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

BPIFB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPIFB1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P031864:  view genomic region     (about GC identifiers)

Start:
31,861,286 bp from pter      End:
31,897,684 bp from pter
Size:
36,399 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: BPIB1_HUMAN, Q8TDL5 (See protein sequence)
Recommended Name: BPI fold-containing family B member 1 precursor  
Size: 484 amino acids; 52442 Da
Secondary accessions: A8K2H8 Q5QP43 Q6UWY1 Q6ZRU7 Q96HK6 Q9BQP8 Q9BWZ6 Q9H4V6
Alternative splicing: 2 isoforms:  Q8TDL5-1   Q8TDL5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BPIFB1: NX_Q8TDL5

Explore proteomics data for BPIFB1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn48, Asn264, Asn401
  • Modification sites at PhosphoSitePlus

  • See BPIFB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_149974.2  
    ENSEMBL proteins: 
     ENSP00000390471   ENSP00000253354  

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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

    4 InterPro protein domains:
     IPR021193 PLUNC_long_form
     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 Q8TDL5

    ProtoNet protein and cluster: Q8TDL5

    UniProtKB/Swiss-Prot: BPIB1_HUMAN, Q8TDL5
    Similarity: Belongs to the BPI/LBP/Plunc superfamily. Plunc family


    Find genes that share domains with BPIFB1           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BPIB1_HUMAN, Q8TDL5
    Function: May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS)
    and modulates the cellular responses to LPS

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008289lipid binding IEA--
         
    Find genes that share ontologies with BPIFB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BPIFB1:
     Increased gamma-H2AX phosphory 

         1 MGI phenotypic allele for Bpifb1 (no phenotypes)

    Find genes that share phenotypes with BPIFB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bpifb1tm1Lex for BPIFB1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BPIFB1
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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
    BPIB1_HUMAN, Q8TDL5: Secreted (By similarity)

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA--
    GO:0005615extracellular space IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with BPIFB1           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BPIFB1
    Interactions:

        Search GeneGlobe Interaction Network for BPIFB1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for BPIFB1 (ENSP000002533544) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KNCNENSP000003796074STRING: ENSP00000379607
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002227innate immune response in mucosa IDA--
    GO:0034144negative regulation of toll-like receptor 4 signaling pathway IDA--

    Find genes that share ontologies with BPIFB1           About GenesLikeMe



    (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 BPIFB1 (BPIB1)



    (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 BPIFB1 gene: 
    NM_033197.2  

    Unigene Cluster for BPIFB1:

    BPI fold containing family B, member 1
    Hs.65551  [show with all ESTs]
    Unigene Representative Sequence: AK127971
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000423645 ENST00000253354(uc010gej.1 uc002wyw.1) ENST00000464032(uc002wyx.1)

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      QuantiFast Probe-based Assays in human, mouse, rat BPIFB1

    Additional mRNA sequence: 

    AF364078.1 AK127971.1 AK290243.1 AK310964.1 AK313176.1 AY358595.1 BC008429.1 

    22 DOTS entries:

    DT.120828189  DT.95169832  DT.75100543  DT.91756245  DT.120828145  DT.91988372  DT.120828196  DT.95246603 
    DT.120828152  DT.120828155  DT.120828151  DT.120828158  DT.120828149  DT.120828162  DT.120828187  DT.120828192 
    DT.99964350  DT.100008390  DT.100672736  DT.120828186  DT.91756246  DT.95169835 

    Selected AceView cDNA sequences (see all 645):

    BI821790 BI770190 CD707946 BM980522 BM981306 BI818205 CA488923 BI821769 
    BQ109522 BU684110 CD687920 BM992632 BE061383 BG482718 CD710034 CB305554 
    BQ083444 CD693799 NM_033197 AF364078 CD701512 CD686426 AY358595 CD703131 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BPIFB1 (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^
    SP1:                                      -     -                             -                                                                             -   
    SP2:                                                                                                                                                        -   
    SP3:                                      -     -                             -                             -     -     -                                       
    SP4:                                      -     -                             -           -     -                                                               
    SP5:                                      -     -                                                                                                               

    ExUns: 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
    SP1:  -     -                                                                           
    SP2:  -     -                       -                                                   
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for BPIFB1

    (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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    BPIFB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BPIFB1 Expression
    About this image


    BPIFB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Lung (Respiratory System)
     
     Stomach (Gastrointestinal Tract)
    BPIFB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BPIFB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.65551

    UniProtKB/Swiss-Prot: BPIB1_HUMAN, Q8TDL5
    Tissue specificity: Detected in duodenum mucosal crypts of cholera patients, near Paneth cells (at protein level).
    Detected in trachea, nasal septal epithelium and lung

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPIFB1

    (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 human and mouse.

    Orthologs for BPIFB1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bpifb11 , 5 BPI fold containing family B, member 11, 5 72.09(n)1
    59.62(a)1
      2 (76.23 cM)5
    2288011  NM_001012392.11  NP_001012392.11 
     1541908185 


    ENSEMBL Gene Tree for BPIFB1 (if available)
    TreeFam Gene Tree for BPIFB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 BPIFB1 (see all 801)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1123761891,2
    C,F--31868996(+) ACAGGC/TACGTG 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs60881601,2
    H--31869006(+) gccacC/Ttaaaa 1 -- us2k1 tfbs34Minor allele frequency- T:0.00NS EA 420
    rs1387686471,2
    C--31869225(+) CATTTC/TACAAT 1 -- us2k10--------
    rs1418868851,2
    --31869307(+) TGAGCC/TGTGTC 1 -- us2k10--------
    rs739063771,2
    C,F--31869316(+) TCTGTC/TGGCCT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1808881831,2
    --31869319(+) GTCGGC/TCTCCA 1 -- us2k10--------
    rs1479935031,2
    C--31869390(+) GGGTGA/GAGGAG 1 -- us2k10--------
    rs1864120031,2
    --31869461(+) GGCCAA/CGAGAC 1 -- us2k10--------
    rs1912562541,2
    --31869466(+) AGAGAC/TGCCAG 1 -- us2k10--------
    rs1828427471,2
    --31869560(+) TGTCCA/CAGCAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BPIFB1 (31861286 - 31897684 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BPIFB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518678CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BPIFB1
    DNA2.0 Custom Variant and Variant Library Synthesis for BPIFB1

    (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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      --

    (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 BPIFB1 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with BPIFB1)
        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. LPLUNC1 modulates innate immune responses to Vibrio cholerae. (PubMed id 21900486)1, 2 Shin O.S....Harris J.B. (J. Infect. Dis. 2011)
    3. 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)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    8. Human LPLUNC1 is a secreted product of goblet cells and minor glands of the respiratory and upper aerodigestive tracts. (PubMed id 20237794)1, 9 Bingle C.D....Bingle L. (Histochem. Cell Biol. 2010)
    9. Identification of tissue-specific genes in nasopharyngeal epithelial tissue and differentially expressed genes in nasopharyngeal carcinoma by suppression subtractive hybridization and cDNA microarray. (PubMed id 12874788)1, 9 Zhang B....Li G. (amp 2003)
    10. LPLUNC1 inhibits nasopharyngeal carcinoma cell growth via down-regulation of the MAP kinase and cyclin D1/E2F pathways. (PubMed id 23650533)1 Yang Y....Li G. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 92747 HGNC: 16108 AceView: C20orf114 Ensembl:ENSG00000125999 euGenes: HUgn92747
    ECgene: BPIFB1 H-InvDB: BPIFB1

    (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 BPIFB1 Pharmacogenomics, SNPs, Pathways

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    Patent Information for BPIFB1 gene:
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