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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BPIFC Gene

protein-coding   GIFtS: 43
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)
About This Section

Aliases
BPI Fold Containing Family C1 2
Bactericidal/Permeability-Increasing Protein-Like 21 2 3
BPIL21 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BPIFC
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BPIFC_HUMAN, Q8NFQ6 (See protein sequence)
Recommended Name: BPI fold-containing family C protein precursor  
Size: 507 amino acids; 56469 Da
Subcellular location: Secreted (By similarity)

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

Explore proteomics data for BPIFC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NFQ6

  • BPIFC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    BPIFC for ontologies           About GeneDecksing



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

    4 InterPro protein domains:
     IPR017954 Lipid-bd_serum_glycop_CS
     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 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BPIFC

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BPIFC

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for BPIFC gene: 
    NM_174932.2  

    Unigene Clusters for BPIFC:

    BPI fold containing family C
    Hs.372939 , Hs.736771  [show with all ESTs]
    Unigene Representative Sequences: BF245271, NM_174932
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397452(uc011amb.1) ENST00000397450(uc003amo.4) ENST00000300399(uc003amn.2 uc010gwo.2)
    ENST00000432451 ENST00000534972
    miRNA
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    Additional mRNA sequence: 

    AF465766.1 AK301685.1 BC131582.1 

    2 DOTS entries:

    DT.91812335  DT.91815709 

    9 AceView cDNA sequences:

    BM967188 CK823454 BM893868 NM_174932 AF465766 CK823453 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See BPIFC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BPIFC

    SOURCE GeneReport for Unigene clusters: Hs.372939 Hs.736771

    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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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPIFC

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BPIFC gene from 2/8 species (see all 8)    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 BPIL21 bactericidal/permeability-increasing protein-like 2 52.55(n)
    33.26(a)
      771461  XM_001234742.2  XP_001234743.2 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1253 SNPs in BPIFC are shown (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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614109    OMIM disorders: --

    2 diseases 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)
    About This Section

    PubMed articles for BPIFC gene integrated from 9 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. (2002)
    2. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    3. Large-scale identification of human genes implicated in epidermal barrier function. (PubMed id 17562024)1 Toulza E.... Guerrin M. (2007)
    4. 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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 254240 HGNC: 16503 AceView: BPIL2 Ensembl:ENSG00000184459 euGenes: HUgn254240
    ECgene: BPIFC H-InvDB: BPIFC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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