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

BPIFA3 Gene

protein-coding   GIFtS: 37
GCID: GC20P031806

BPI fold containing family A, member 3

(Previous name: chromosome 20 open reading frame 71 )
(Previous symbol: C20orf71)
 Explore 1 disease affiliated with
BPIFA3 via our new
 Human Malady Compendium 
Biological research products
for BPIFA3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
BPI Fold Containing Family A, Member 31 2     BA49G10.41
C20orf711 2 3     Chromosome 20 Open Reading Frame 711
SPLUNC31 2 3     BPI Fold-Containing Family A Member 32
Short Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 32 3     Short Long Palate, Lung And Nasal Epithelium Carcinoma Associated 32

External Ids:    HGNC: 162041   Entrez Gene: 1288612   Ensembl: ENSG000001310597   UniProtKB: Q9BQP93   

Export aliases for BPIFA3 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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BPIFA3
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for BPIFA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BPIFA3


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

BPIFA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPIFA3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P031806:  view genomic region     (about GC identifiers)

Start:
31,805,116 bp from pter      End:
31,815,564 bp from pter
Size:
10,449 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BPIA3_HUMAN, Q9BQP9 (See protein sequence)
Recommended Name: BPI fold-containing family A member 3 precursor  
Size: 254 amino acids; 28436 Da
Subcellular location: Secreted (Potential)
Secondary accessions: Q5JWG8 Q6NZ38
Alternative splicing: 2 isoforms:  Q9BQP9-1   Q9BQP9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BPIFA3: NX_Q9BQP9

BPIFA3 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins (2 alternative transcripts): 
NP_001035904.1  NP_848561.2  

ENSEMBL proteins: 
 ENSP00000364603   ENSP00000364601  

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Uscn Proteins for BPIFA3

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

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


BPIFA3 for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BPIFA3 for domains           About GeneDecksing

2 InterPro domains/families:
 IPR017942 Lipid-bd_serum_glycop_N
 IPR017943 Bactericidal_perm-incr_a/b_dom

Graphical View of Domain Structure for InterPro Entry Q9BQP9

ProtoNet protein and cluster: Q9BQP9

UniProtKB/Swiss-Prot: BPIA3_HUMAN, Q9BQP9
Similarity: Belongs to the BPI/LBP/Plunc superfamily. Plunc family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA
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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--


BPIFA3 for ontologies           About GeneDecksing



(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BPIFA3

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 BPIFA3
Search CenterWatch for drugs/clinical trials and news about BPIFA3 / BPIA3 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BPIFA3 gene (2 alternative transcripts): 
NM_001042439.1  NM_178466.3  

Unigene Cluster for BPIFA3:

BPI fold containing family A, member 3
Hs.360989  [show with all ESTs]
Unigene Representative Sequence: NM_178466
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000490499 ENST00000471233 ENST00000375454(uc002wyr.3 uc002wys.3)
ENST00000375452

miRNA
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Inhib. RNA
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Additional cDNA sequence: BC066354.1 

4 DOTS entries:

DT.404854  DT.100745059  DT.120811241  DT.92433883 

20 AceView cDNA sequences:

AA912681 BC041904 AA971343 NM_178466 BC066354 AI017073 AW082233 BG717907 
BX091954 AI638623 BI562604 AI073399 BI826928 AW082161 BF966133 AW072250 
AA383555 BQ376632 AW340528 AL732092 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for BPIFA3    About this scheme

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
SP1:                                                                  
SP2:                    -           -                                 
SP3:                    -                                             


ECgene alternative splicing isoforms for BPIFA3

(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

BPIFA3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGGCTGGA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See BPIFA3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BPIFA3

SOURCE GeneReport for Unigene cluster: Hs.360989
    SABiosciences Custom PCR Arrays for BPIFA3
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In Situ
Assay Products:
 

 
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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
  --

ENSEMBL Gene Tree for BPIFA3 (if available)
TreeFam Gene Tree for BPIFA3 (if available) 

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

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/288 NCBI SNPs in BPIFA3 are shown (see all 288    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1507320811,2
--31803135(+) ACCCCA/GGTCTG 2 -- us2k10--------
rs1848574481,2
--31803141(+) GTCTGC/GGTGAC 2 -- us2k10--------
rs1162487991,2
F,--31803186(+) GCACCG/AAGTTG 2 -- us2k11Minor allele frequency- A:0.03WA 118
rs1390972111,2
--31803203(+) AATCCA/GGTCCC 2 -- us2k10--------
rs557099581,2
C,F,--31803210(+) TCCCCA/GGCCCC 2 -- us2k15Minor allele frequency- G:0.50WA CSA 124
rs1451726521,2
--31803465(+) CAACCA/GCTTAC 2 -- us2k10--------
rs171243861,2
C,F,H,--31803556(+) AGAAAG/CGACCT 2 -- us2k113Minor allele frequency- C:0.15NA NS EA WA CSA 688
rs1866145041,2
--31803565(+) CTCAAA/CCAGGG 2 -- us2k10--------
rs1911111591,2
--31803566(+) TCAAAC/TAGGGA 2 -- us2k10--------
rs751607601,2
C,F,--31803710(+) TATGTC/TGCCCG 2 -- us2k11Minor allele frequency- T:0.02EA 120

HapMap Linkage Disequilibrium report for BPIFA3 (31805116 - 31815564 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for BPIFA3: --

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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.)
About This Section

BPIFA3 for disorders           About GeneDecksing

1 disease for BPIFA3:    About MalaCards
carcinoma


Export disorders for BPIFA3 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 BPIFA3 gene integrated from 9 sources:
(articles sorted by number of sources associating them with BPIFA3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. (PubMed id 11971875)1, 3 Bingle C.D. and Craven C.J. (2002)
  3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  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. (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: 128861 HGNC: 16204 AceView: C20orf71 Ensembl:ENSG00000131059 euGenes: HUgn128861
ECgene: BPIFA3 H-InvDB: BPIFA3

(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 BPIFA3 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 BPIFA3 gene:
Search GeneIP for patents involving BPIFA3

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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von Willebrand factor
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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 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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