BPIFB6 Gene (Protein Coding)

BPI Fold Containing Family B Member 6

GC20P033031
GIFtS:
32
See more...

Aliases for BPIFB6 Gene

Aliases for BPIFB6 Gene

  • BPI Fold Containing Family B Member 6 2 3 5
  • Bactericidal/Permeability-Increasing Protein-Like 3 2 3 4
  • BPI Fold-Containing Family B Member 6 3 4
  • LPLUNC6 2 3
  • BPIL3 3 4
  • BPIFB6 5

External Ids for BPIFB6 Gene

Previous HGNC Symbols for BPIFB6 Gene

  • BPIL3

Previous GeneCards Identifiers for BPIFB6 Gene

  • GC20P031620

Summaries for BPIFB6 Gene

GeneCards Summary for BPIFB6 Gene

BPIFB6 (BPI Fold Containing Family B Member 6) is a Protein Coding gene. Diseases associated with BPIFB6 include Midface Dysplasia and Spastic Paraplegia 20, Autosomal Recessive. Among its related pathways are Innate Immune System and Defensins. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is BPIFB4.

Additional gene information for BPIFB6 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BPIFB6 Gene

Genomics for BPIFB6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BPIFB6 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH20J032626 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 1.6 -403.5 -403485 2.7 HNRNPL IKZF1 KDM1A ZNF692 JUND MTA2 PHF21A ZIC2 PKNOX1 MTA1 NOL4L ENSG00000233293 COMMD7 BAK1P1 BPIFB6 AB372778-018 lnc-DNMT3B-6 C20orf203
GH20J033009 Enhancer 1.5 FANTOM5 Ensembl CraniofacialAtlas dbSUPER 0.4 -22.0 -21998 0.7 HNRNPL GATAD2A TFE3 SOX13 NFKBIZ RCOR2 ZNF7 FOXA1 RBFOX2 RXRB BPIFB2 ASXL1 POFUT1 TM9SF4 CDK5RAP1 BAK1P1 BPIFB6 L13712-018
GH20J033021 Enhancer 0.5 Ensembl 0.4 -9.5 -9547 1.4 RBFOX2 RBM22 POLR2A SSRP1 NFIL3 PAF1 GTF2F1 PPARG CDK5RAP1 BPIFB4 BPIFB6 BPIFB2 L13712-018
GH20J033014 Enhancer 0.5 Ensembl 0.4 -16.9 -16947 0.6 RBFOX2 RBM22 SMAD4 MAX POLR2A BPIFB2 BPIFB6 L13712-018
GH20J033053 Enhancer 0.3 Ensembl 0.4 +21.9 21853 0.6 ZFHX2 EGR2 BPIFB3 piR-43107-181 BPIFB6 L13712-018
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BPIFB6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BPIFB6

Genomic Locations for BPIFB6 Gene

Genomic Locations for BPIFB6 Gene
chr20:33,031,648-33,044,108
(GRCh38/hg38)
Size:
12,461 bases
Orientation:
Plus strand
chr20:31,619,454-31,631,853
(GRCh37/hg19)
Size:
12,400 bases
Orientation:
Plus strand

Genomic View for BPIFB6 Gene

Genes around BPIFB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPIFB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPIFB6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BPIFB6 Gene

Proteins for BPIFB6 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for BPIFB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFQ5-BPIB6_HUMAN
    Recommended name:
    BPI fold-containing family B member 6
    Protein Accession:
    Q8NFQ5

    Protein attributes for BPIFB6 Gene

    Size:
    453 amino acids
    Molecular mass:
    49717 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BPIFB6 Gene

Protein Expression for BPIFB6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BPIFB6 Gene

  • Glycosylation at Asn114 and Asn190
  • Modification sites at PhosphoSitePlus

Other Protein References for BPIFB6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BPIFB6 Gene

Domains & Families for BPIFB6 Gene

Gene Families for BPIFB6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BPIFB6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BPIFB6 Gene

GenScript: Design optimal peptide antigens:
  • Bactericidal/permeability-increasing protein-like 3 (BPIL3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NFQ5

UniProtKB/Swiss-Prot:

BPIB6_HUMAN :
  • Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
Family:
  • Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
genes like me logo Genes that share domains with BPIFB6: view

Function for BPIFB6 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for BPIFB6 Gene

Gene Ontology (GO) - Molecular Function for BPIFB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with BPIFB6: view
genes like me logo Genes that share phenotypes with BPIFB6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for BPIFB6

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPIFB6

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BPIFB6 Gene

Localization for BPIFB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BPIFB6 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BPIFB6 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 2
plasma membrane 1
golgi apparatus 1
mitochondrion 0
cytosol 0

Gene Ontology (GO) - Cellular Components for BPIFB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with BPIFB6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BPIFB6 Gene

Pathways & Interactions for BPIFB6 Gene

PathCards logo

SuperPathways for BPIFB6 Gene

genes like me logo Genes that share pathways with BPIFB6: view

Pathways by source for BPIFB6 Gene

3 Reactome pathways for BPIFB6 Gene

Interacting Proteins for BPIFB6 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 22)
STRING Interaction Network
Selected Interacting proteins: ENSP00000344929 for BPIFB6 Gene via STRING

GPS-Prot Interaction Network for BPIFB6

Gene Ontology (GO) - Biological Process for BPIFB6 Gene

None

No data available for SIGNOR curated interactions for BPIFB6 Gene

Drugs & Compounds for BPIFB6 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for BPIFB6 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BPIFB6 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPIFB6

Alternative Splicing Database (ASD) splice patterns (SP) for BPIFB6 Gene

No ASD Table

Relevant External Links for BPIFB6 Gene

GeneLoc Exon Structure for
BPIFB6

Expression for BPIFB6 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BPIFB6 Gene

mRNA expression in normal human tissues for BPIFB6 Gene
mRNA expression by GTEx for BPIFB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BPIFB6 Gene

This gene is overexpressed in Minor Salivary Gland (x43.1) and Esophagus - Mucosa (x4.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BPIFB6 Gene



Protein tissue co-expression partners for BPIFB6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BPIFB6

SOURCE GeneReport for Unigene cluster for BPIFB6 Gene:

Hs.375090

mRNA Expression by UniProt/SwissProt for BPIFB6 Gene:

Q8NFQ5-BPIB6_HUMAN
Tissue specificity: Detected at very low levels in normal tonsils, and at higher levels in hypertrophic tonsils.
genes like me logo Genes that share expression patterns with BPIFB6: view

No data available for Protein differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for BPIFB6 Gene

Orthologs for BPIFB6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BPIFB6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia BPIFB6 30 31
  • 98.62 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BPIFB6 30 31
  • 86.92 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BPIFB6 30 31
  • 85.01 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Bpifb6 30 17 31
  • 79.22 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bpifb6 30
  • 77.08 (n)
Oppossum
(Monodelphis domestica)
 Mammalia BPIFB6 31
  • 60 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia BPIFB6 31
  • 45 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves BPIFB6 31
  • 37 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 20 (a)
 ManyToMany
-- 31
  • 20 (a)
 ManyToMany
-- 31
  • 20 (a)
 ManyToMany
-- 31
  • 20 (a)
 ManyToMany
Species where no ortholog for BPIFB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for BPIFB6 Gene

ENSEMBL:
Gene Tree for BPIFB6 (if available)
TreeFam:
Gene Tree for BPIFB6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BPIFB6: view image

Paralogs for BPIFB6 Gene

Paralogs for BPIFB6 Gene

(1) SIMAP similar genes for BPIFB6 Gene using alignment to 2 proteins:

  • BPIB6_HUMAN
  • F5H8I3_HUMAN
genes like me logo Genes that share paralogs with BPIFB6: view

Variants for BPIFB6 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BPIFB6 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs11907355 - p.Pro149Thr
rs17301126 - p.Thr16Met
rs2070317 - p.Val97Ile
rs4911287 - p.Ser347Gly
rs79809934 - p.Arg296His

Additional dbSNP identifiers (rs#s) for BPIFB6 Gene

Structural Variations from Database of Genomic Variants (DGV) for BPIFB6 Gene

Variant ID Type Subtype PubMed ID
dgv4301n100 CNV gain 25217958
esv2758792 CNV loss 17122850
esv3567952 CNV loss 25503493
nsv1056411 CNV loss 25217958
nsv1062857 CNV gain 25217958
nsv3351 CNV insertion 18451855
nsv3352 CNV deletion 18451855

Variation tolerance for BPIFB6 Gene

Residual Variation Intolerance Score: 83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.16; 75.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BPIFB6 Gene

Human Gene Mutation Database (HGMD)
BPIFB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPIFB6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPIFB6 Gene

Disorders for BPIFB6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BPIFB6 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BPIFB6

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with BPIFB6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BPIFB6 Gene

Publications for BPIFB6 Gene

  1. Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP). (PMID: 12185532) Mulero JJ … Rupp F (Immunogenetics 2002) 2 3 4
  2. Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily. (PMID: 21787333) Bingle CD … Craven CJ (Biochemical Society transactions 2011) 2 3
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  4. BPIFB6 Regulates Secretory Pathway Trafficking and Enterovirus Replication. (PMID: 26962226) Morosky S … Coyne CB (Journal of virology 2016) 3
  5. A de novo paradigm for mental retardation. (PMID: 21076407) Vissers LE … Veltman JA (Nature genetics 2010) 4

ExternalLinks

View latest publications for BPIFB6 gene in Mastermind

Products for BPIFB6 Gene

Sources for BPIFB6 Gene