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

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)
About This Section

Aliases
BPI Fold Containing Family B, Member 41 2     RY2G52
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
Chromosome 20 Open Reading Frame 1861     

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

Export aliases for BPIFB4 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BPIFB4
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: BPIB4_HUMAN, P59827 (See protein sequence)
Recommended Name: BPI fold-containing family B member 4 precursor  
Size: 614 amino acids; 65055 Da
Subcellular location: Secreted (By similarity). Cytoplasm
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 

BPIFB4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

BPIFB4 Protein Expression

REFSEQ proteins: NP_872325.2  
ENSEMBL proteins: 
 ENSP00000388423   ENSP00000364632  

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

BPIFB4 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

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,
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

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 (GO ID links to tree view):    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 

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 BPIFB4

(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 BPIFB4 (BPIB4)

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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
miRNA
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Additional mRNA sequence: AF549190.1 

2 DOTS entries:

DT.101975507  DT.100749797 

20 AceView cDNA sequences:

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

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

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


See BPIFB4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BPIFB4

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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for BPIFB4 gene from 3/9 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 66.44(n)
66.74(a)
  428160  XM_425718.3  XP_425718.3 
lizard
(Anolis carolinensis)
Reptilia BPIFB46
--
(see all 5)
Uncharacterized protein
(see all 5)
52(a)
21(a)
(see all 5)
1 ↔ 1
possible ortholog
(see all 5)
GL343525.1(344231-363635)
GL343766.1(65282-85745)


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)
About This Section
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) 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

10/915 SNPs in BPIFB4 are shown (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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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)
About This Section

PubMed articles for BPIFB4 gene integrated from 9 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. (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. (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. (2003)
  4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  5. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
  6. Phylogenetic and evolutionary analysis of the PLUNC gene family. (PubMed id 14739326)2 Bingle C.D....Craven C.J. (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. (2003)

(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: 149954 HGNC: 16179 AceView: C20orf186 Ensembl:ENSG00000186191 euGenes: HUgn149954
ECgene: BPIFB4 H-InvDB: BPIFB4

(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 BPIFB4 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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