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BPIFC Gene

protein-coding   GIFtS: 40
GCID: GC22M032810

BPI Fold Containing Family C

(Previous name: bactericidal/permeability-increasing protein-like 2)
(Previous symbol: BPIL2)
  See related disease
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 C1 2
BPIL21 2 3 5
Bactericidal/Permeability-Increasing Protein-Like 21 2 3
BPI-Like 22 3
BPI Fold-Containing Family C Protein2

External Ids:    HGNC: 165031   Entrez Gene: 2542402   Ensembl: ENSG000001844597   OMIM: 6141095   UniProtKB: Q8NFQ63   

Export aliases for BPIFC 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 BPIFC Gene:
BPIFC (BPI fold containing family C) is a protein-coding gene. Diseases associated with BPIFC include psoriasis. GO annotations related to this gene include phospholipid binding and lipopolysaccharide binding. An important paralog of this gene is PLTP.


(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_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for BPIFC
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBPIFC promoter sequence
   Search Chromatin IP Primers for BPIFC

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


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

Entrez Gene cytogenetic band: 22q12.3   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q12.3

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M032810:  view genomic region     (about GC identifiers)

Start:
32,809,834 bp from pter      End:
32,860,471 bp from pter
Size:
50,638 bases      Orientation:
minus 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: BPIFC_HUMAN, Q8NFQ6 (See protein sequence)
Recommended Name: BPI fold-containing family C protein precursor  
Size: 507 amino acids; 56469 Da

Explore the universe of human proteins at neXtProt for BPIFC: NX_Q8NFQ6

Explore proteomics data for BPIFC at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn79, Asn92, Asn113, Asn213, Asn225, Asn257, Asn301, Asn355, Asn372, Asn415

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

    REFSEQ proteins: NP_777592.1  
    ENSEMBL proteins: 
     ENSP00000380594   ENSP00000380592   ENSP00000300399   ENSP00000408920   ENSP00000439123  

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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:
     IPR017942 Lipid-bd_serum_glycop_N
     IPR017943 Bactericidal_perm-incr_a/b_dom
     IPR001124 Lipid-bd_serum_glycop_C
     IPR017954 Lipid-bd_serum_glycop_CS

    Graphical View of Domain Structure for InterPro Entry Q8NFQ6

    ProtoNet protein and cluster: Q8NFQ6

    1 Blocks protein domain: IPB001124 Lipid-binding serum glycoprotein

    UniProtKB/Swiss-Prot: BPIFC_HUMAN, Q8NFQ6
    Similarity: Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family


    BPIFC 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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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001530lipopolysaccharide binding NAS12185532
    GO:0005543phospholipid binding NAS12185532
    GO:0008289lipid binding ----
         
    BPIFC for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BPIFC:
     Decreased Hepatitis C virus re 

    Animal Models:
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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
    BPIFC_HUMAN, Q8NFQ6: Secreted (By similarity)

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

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

    BPIFC 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 BPIFC
    Interactions:

        Search GeneGlobe Interaction Network for BPIFC

    (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 BPIFC



    (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 BPIFC gene: 
    NM_174932.2  

    Unigene Cluster for BPIFC:

    BPI fold containing family C
    Hs.372939
    Unigene Representative Sequence: BF245271
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397452(uc011amb.1) ENST00000397450(uc003amo.4) ENST00000300399(uc003amn.2 uc010gwo.2)
    ENST00000432451 ENST00000534972
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    Additional mRNA sequence: BC062656.1 

    1 DOTS entry:

    DT.91815709 

    9 AceView cDNA sequences:

    AF465766 BM967188 CK823454 CK823453 BM893868 NM_174932 BC062656 BG679567 
    BF245271 

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

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

    BPIFC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.372939

    UniProtKB/Swiss-Prot: BPIFC_HUMAN, Q8NFQ6
    Tissue specificity: Detected in the basal layer of the epidermis from inflammatory skin from psoriasis patients,
    but not in normal skin

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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 BPIFC gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bpifc1 , 5 BPI fold containing family C1, 5 78.95(n)1
    71.91(a)1
      10 (41.83 cM)5
    2707571  NM_177772.41  NP_808440.21 
     859593405 
    chicken
    (Gallus gallus)
    Aves BPIFCB1 BPI fold containing family C, member B 52.77(n)
    33.91(a)
      771461  XM_004937805.1  XP_004937862.1 
    lizard
    (Anolis carolinensis)
    Reptilia BPIFC6
    BPI fold containing family C
    26(a)
    1 ↔ 1
    GL343768.1(185860-195170)
    zebrafish
    (Danio rerio)
    Actinopterygii bpifcl6
    BPI fold containing family C, like
    21(a)
    1 ↔ 1
    9(130684-141064) ENSDARG00000088486


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BPIFC gene
    PLTP2  BPI2  LBP2  
    3 SIMAP similar genes for BPIFC using alignment to 3 protein entries:     BPIFC_HUMAN (see all proteins):
    BPIL2    BPI    PLTP

    BPIFC 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 BPIFC (see all 1253)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38854391,2
    C--15770523(+) ttttt-/Tgcttt 1 -- int11Minor allele frequency- T:0.00NA 2
    rs2000700781,2
    C--32810289(+) CGGCAA/GTCAAG 1 -- ut311Minor allele frequency- G:0.00EU 1323
    rs1170163301,2
    C--32810336(+) TCAGAC/TCTTCC 2 D G mis11Minor allele frequency- T:0.01NA 120
    rs1490924001,2
    C--32810346(+) CCATAC/TGTGGA 2 I V mis11Minor allele frequency- T:0.00NA 4550
    rs358567421,2,,4
    C,F--32810378(+) ATGTTT/GCATAC 2 /E /A mis110Minor allele frequency- G:0.06NA NS EA WA EU 6613
    rs59984771,2
    C--32810511(+) attttA/Catttt 1 -- int10--------
    rs1914058281,2
    --32810567(+) GCGATA/CTTGGC 1 -- int10--------
    rs1812736721,2
    --32810646(+) CAGGTG/TTGTGC 1 -- int10--------
    rs770461181,2
    F--32810791(+) GAGAGA/TTGGTT 1 -- int11Minor allele frequency- T:0.03NA 120
    rs609323261,2
    C,F--32810820(+) GAGAGT/CCAGGC 1 -- int12Minor allele frequency- C:0.09WA 120

    HapMap Linkage Disequilibrium report for BPIFC (32809834 - 32860471 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BPIFC:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658664CNV Deletion23128226
    esv270832CNV Insertion20981092
    esv268198CNV Insertion20981092
    nsv526513CNV Loss19592680
    nsv519086CNV Loss19592680
    nsv459874CNV Gain19166990

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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: 614109    OMIM disorders: --

    1 disease for BPIFC:    
    About MalaCards
    psoriasis


    BPIFC for disorders           About GeneDecksing


    Export disorders for BPIFC 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 BPIFC gene integrated from 10 sources:
    (articles sorted by number of sources associating them with BPIFC)
        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 Mulero J.J.... Rupp F. (Immunogenetics 2002)
    2. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    3. Genome-wide meta-analysis identifies new susceptibility loci for migraine. (PubMed id 23793025)1 Anttila V.... . (Nat. Genet. 2013)
    4. Large-scale identification of human genes implicated in epidermal barrier function. (PubMed id 17562024)1 Toulza E.... Guerrin M. (Genome Biol. 2007)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 254240 HGNC: 16503 AceView: BPIL2 Ensembl:ENSG00000184459 euGenes: HUgn254240
    ECgene: BPIFC H-InvDB: BPIFC

    (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 BPIFC 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 BPIFC gene:
    Search GeneIP for patents involving BPIFC

    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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