Aliases for BPIFB4 Gene
Aliases for BPIFB4 Gene
External Ids for BPIFB4 Gene
- HGNC: 16179
- Entrez Gene: 149954
- Ensembl: ENSG00000186191
- OMIM: 615718
- UniProtKB: P59827
Previous HGNC Symbols for BPIFB4 Gene
- C20orf186
Previous GeneCards Identifiers for BPIFB4 Gene
- GC20P031668
Summaries for BPIFB4 Gene
GeneCards Summary for BPIFB4 Gene
BPIFB4 (BPI Fold Containing Family B Member 4) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is BPIFB3.
UniProtKB/Swiss-Prot for BPIFB4 Gene
-
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).
Additional gene information for BPIFB4 Gene
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BPIFB4 Gene
Genomics for BPIFB4 Gene
GeneHancer (GH) Regulatory Elements for BPIFB4 Gene
Promoters and enhancers for BPIFB4 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH20J033106 | Enhancer | 0.9 | ENCODE | 11.8 | +26.6 | 26626 | 0.2 | FOXA2 MLX ARID4B YY1 ATF7 NFKBIZ RXRA MIER2 REST KAT8 | BPIFB4 GC20P033090 LOC105372714 | |
| GH20J032902 | Enhancer | 0.8 | ENCODE | 11.5 | -177.0 | -176974 | 0.2 | ARID4B ZNF48 RAD21 ZNF121 GLIS2 ARID2 ZNF143 MIXL1 DEK ZNF654 | BPIFB4 SUN5 EFCAB8 BPIFA3 ENSG00000224876 PIR55937 | |
| GH20J032894 | Enhancer | 0.7 | ENCODE | 11.2 | -185.4 | -185374 | 0.2 | MYRF ELF3 CTCF IRF2 AHR RB1 SAP130 SIN3A ZIC2 KDM3A | MAPRE1 EFCAB8 BPIFB4 ENSG00000260257 PIR55937 | |
| GH20J032807 | Enhancer | 0.7 | ENCODE | 10.4 | -271.6 | -271646 | 1.8 | ZBTB21 KLF17 BACH1 SIN3A ZIC2 ZEB1 ZNF366 POLR2A ZBTB48 PATZ1 | GC20P032809 EFCAB8 BPIFB4 BPIFA3 ENSG00000224876 COMMD7 ENSG00000260257 DNMT3B | |
| GH20J032945 | Enhancer | 0.6 | ENCODE | 10.5 | -133.5 | -133536 | 0.9 | CTCF ARNT ZNF384 RAD21 TGIF2 SCRT2 MBD1 SMC3 ZBTB26 | SUN5 BPIFB4 MAPRE1 PIR55937 EFCAB8 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BPIFB4 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for BPIFB4 Gene
Genomic Locations for BPIFB4 Gene
- chr20:33,079,644-33,111,751
- (GRCh38/hg38)
- Size:
- 32,108 bases
- Orientation:
- Plus strand
- chr20:31,667,450-31,699,557
- (GRCh37/hg19)
Genomic View for BPIFB4 Gene
Genes around BPIFB4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q11.21 by Entrez Gene
- 20q11.21 by HGNC
- 20q11.21 by Ensembl
BPIFB4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BPIFB4 Gene
Proteins for BPIFB4 Gene
-
Protein details for BPIFB4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P59827-BPIB4_HUMAN
- Recommended name:
- BPI fold-containing family B member 4
- Protein Accession:
- P59827
- Q5TDX6
Protein attributes for BPIFB4 Gene
- Size:
- 614 amino acids
- Molecular mass:
- 65055 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=CAI22532.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for BPIFB4 Gene
Post-translational modifications for BPIFB4 Gene
Other Protein References for BPIFB4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Protein Products
-
OriGene Purified Proteins for BPIFB4
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- antibodies-online: Search results for 4 available BPIFB4 Proteins ranked by validation data
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-
Quality Products:
- Search GeneTex for Proteins for BPIFB4
Assay Products
No data available for DME Specific Peptides for BPIFB4 Gene
Domains & Families for BPIFB4 Gene
Gene Families for BPIFB4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted secreted proteins
Protein Domains for BPIFB4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for BPIFB4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P59827- Family:
-
- Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
Function for BPIFB4 Gene
Molecular function for BPIFB4 Gene
- UniProtKB/Swiss-Prot 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).
Phenotypes From GWAS Catalog for BPIFB4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008289 | lipid binding | IEA | -- |
Phenotypes for BPIFB4 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for BPIFB4
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-
CRISPR Products
-
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- Overview of 63 available BPIFB4 gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BPIFB4
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miRNA Products
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- Overview of 63 available BPIFB4 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for BPIFB4
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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- Applied Biological Materials Clones for BPIFB4
-
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Cell Line Products
-
Horizon Cell Lines for BPIFB4
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BPIFB4 Gene
Localization for BPIFB4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BPIFB4 Gene
- Secreted. Cytoplasm.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| plasma membrane | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BPIFB4 Gene
Pathways & Interactions for BPIFB4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Defensins | ||
Pathways by source for BPIFB4 Gene
3 Reactome pathways for BPIFB4 Gene
Interacting Proteins for BPIFB4 Gene
No data available for SIGNOR curated interactions for BPIFB4 Gene
Transcripts for BPIFB4 Gene
mRNA/cDNA for BPIFB4 Gene
- (20) Selected AceView cDNA sequences:
- (1) Additional mRNA sequences :
- (1) REFSEQ mRNAs :
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000375483 2159 bps (uc010zue.3)
- ENST00000445356 554 bps (uc061wfs.1)
- ENST00000494121 585 bps (uc061wft.1)
Unigene Clusters for BPIFB4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for BPIFB4
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- genomics-online: gRNA clones - Search results for 63 available BPIFB4 gene related products
- Overview of 63 available BPIFB4 gene related products
- Applied Biological Materials CRISPR for BPIFB4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BPIFB4
- GenScript: Design CRISPR guide RNA sequences for BPIFB4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BPIFB4
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPIFB4
- genomics-online: shRNA clones - Search results for 63 available BPIFB4 gene related products
- Overview of 63 available BPIFB4 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for BPIFB4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BPIFB4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BPIFB4
- Applied Biological Materials Clones for BPIFB4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for BPIFB4 Gene
mRNA differential expression in normal tissues according to GTEx for BPIFB4 Gene
This gene is overexpressed in Pituitary (x43.8).
This gene is overexpressed in Nasal epithelium (65.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BPIFB4 Gene
NURSA nuclear receptor signaling pathways regulating expression of BPIFB4 Gene:
BPIFB4SOURCE GeneReport for Unigene cluster for BPIFB4 Gene:
Hs.38961mRNA Expression by UniProt/SwissProt for BPIFB4 Gene:
P59827-BPIB4_HUMAN
Tissue specificity:
Expressed in nasal tissue.
Evidence on tissue expression from TISSUES for BPIFB4 Gene
- Nervous system(4)
Primer Products
-
OriGene qPCR primer pairs for BPIFB4
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for BPIFB4 Gene
Orthologs for BPIFB4 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BPIFB4 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BPIFB4 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BPIFB4 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | BPIFB4 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Bpifb4 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Bpifb4 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | BPIFB4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BPIFB4 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | BPIFB4 34 |
|
OneToOne |
- Species where no ortholog for BPIFB4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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 BPIFB4 Gene
- ENSEMBL:
- Gene Tree for BPIFB4 (if available)
- TreeFam:
- Gene Tree for BPIFB4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BPIFB4: view image
Paralogs for BPIFB4 Gene
Variants for BPIFB4 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000128675 | -- | 33,103,406(+) | C/T | intron_variant | |
| rs1000160426 | -- | 33,091,520(+) | C/T | intron_variant | |
| rs1000175630 | -- | 33,109,578(+) | C/T | intron_variant | |
| rs1000331086 | -- | 33,080,979(+) | A/G | upstream_transcript_variant | |
| rs1000493677 | -- | 33,090,198(+) | T/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2659207 | CNV | deletion | 23128226 |
| esv2672617 | CNV | deletion | 23128226 |
| esv2722351 | CNV | deletion | 23290073 |
| esv2758792 | CNV | loss | 17122850 |
| esv3567953 | CNV | loss | 25503493 |
| esv3645677 | CNV | loss | 21293372 |
| nsv1056411 | CNV | loss | 25217958 |
| nsv1058853 | CNV | loss | 25217958 |
| nsv1117431 | CNV | deletion | 24896259 |
| nsv1130767 | CNV | deletion | 24896259 |
Residual Variation Intolerance Score:
75.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
24.22;
99.62% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BPIFB4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPIFB4 Gene
Disorders for BPIFB4 Gene
Additional Disease Information for BPIFB4
No disorders were found for BPIFB4 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BPIFB4 Gene
Publications for BPIFB4 Gene
- PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. (PMID: 11971875) Bingle CD … Craven CJ (Human molecular genetics 2002) 2 3 4 58
- 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 58
- Phylogenetic and evolutionary analysis of the PLUNC gene family. (PMID: 14739326) Bingle CD … Craven CJ (Protein science : a publication of the Protein Society 2004) 3 4 58
- 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. (PMID: 12837268) Andrault JB … Rouquier S (Genomics 2003) 3 4 58
- The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
Products for BPIFB4 Gene
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- VectorBuilder custom plasmid, inducible vectors for BPIFB4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BPIFB4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 16 available BPIFB4 Antibodies ranked by validation data
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- Quality Products:
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- genomics-online: cdna clones - Search results for 63 available BPIFB4 gene related products
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- genomics-online: gRNA clones - Search results for 63 available BPIFB4 gene related products
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Sources for BPIFB4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
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