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Aliases for BPIFC Gene

Aliases for BPIFC Gene

  • BPI Fold Containing Family C 2 3 5
  • Bactericidal/Permeability-Increasing Protein-Like 2 2 3 4
  • BPI-Like 2 3 4
  • BPIL2 3 4
  • BPI Fold-Containing Family C Protein 3

External Ids for BPIFC Gene

Previous HGNC Symbols for BPIFC Gene

  • BPIL2

Previous GeneCards Identifiers for BPIFC Gene

  • GC22M032810

Summaries for BPIFC Gene

GeneCards Summary for BPIFC Gene

BPIFC (BPI Fold Containing Family C) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include lipid binding and lipopolysaccharide binding. An important paralog of this gene is BPI.

Additional gene information for BPIFC Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BPIFC Gene

Genomics for BPIFC Gene

GeneHancer (GH) Regulatory Elements for BPIFC Gene

Promoters and enhancers for BPIFC 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
GH22I032473 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.8 -11.2 -11235 4.7 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF207 ZNF143 FBXO7 BPIFC SLC5A4 RFPL3 C22orf42 RFPL2 PIR46477
GH22I032410 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 10.1 +52.9 52936 2.8 ARID4B SIN3A FEZF1 DMAP1 YY1 GLIS2 ZNF207 ZNF143 FOS RUNX3 RTCB LOC100422292 FBXO7 ENSG00000241954 RFPL3S LOC339666 IGLVIVOR22-2 BPIFC RFPL2 RFPL3
GH22I032508 Enhancer 0.6 dbSUPER 31.7 -45.9 -45870 4.4 GATAD2A ARID4B YY1 KAT8 SKI JUND LCORL ATF3 RCOR2 CREB1 BPIFC FBXO7 LL22NC03-104C7.1 ENSG00000229673 SLC5A1 SLC5A4 GC22M032500 SYN3
GH22I032050 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.4 +413.0 413009 2.8 PKNOX1 CLOCK IRF4 ZNF766 GLIS2 ATF7 FOS RUNX3 JUNB ZNF518A SLC5A4 BPIFC ENSG00000241954 RFPL3S LOC100422292 IGLVIVOR22-2 LOC339666 SLC5A1 PIR57309
GH22I032621 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.8 -158.6 -158612 4.2 PKNOX1 FOXA2 ARID4B FEZF1 GLIS2 ATF7 RXRA SP5 TSHZ1 ZNF623 TIMP3 LL22NC03-104C7.1 ENSG00000229673 BPIFC GC22P032635 LOC105373003 SYN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BPIFC on UCSC Golden Path with GeneCards custom track

Genomic Locations for BPIFC Gene

Genomic Locations for BPIFC Gene
chr22:32,413,845-32,464,484
(GRCh38/hg38)
Size:
50,640 bases
Orientation:
Minus strand
chr22:32,809,834-32,860,471
(GRCh37/hg19)

Genomic View for BPIFC Gene

Genes around BPIFC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BPIFC Gene

Proteins for BPIFC Gene

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

    Protein Symbol:
    Q8NFQ6-BPIFC_HUMAN
    Recommended name:
    BPI fold-containing family C protein
    Protein Accession:
    Q8NFQ6
    Secondary Accessions:
    • A2RRF1

    Protein attributes for BPIFC Gene

    Size:
    507 amino acids
    Molecular mass:
    56469 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BPIFC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BPIFC Gene

Post-translational modifications for BPIFC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BPIFC Gene

Domains & Families for BPIFC Gene

Gene Families for BPIFC Gene

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

Suggested Antigen Peptide Sequences for BPIFC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFQ6

UniProtKB/Swiss-Prot:

BPIFC_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 BPIFC: view

Function for BPIFC Gene

Phenotypes From GWAS Catalog for BPIFC Gene

Gene Ontology (GO) - Molecular Function for BPIFC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding NAS 12185532
GO:0005543 phospholipid binding NAS 12185532
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with BPIFC: view
genes like me logo Genes that share phenotypes with BPIFC: view

Animal Model Products

  • Taconic Biosciences Mouse Models for BPIFC

Clone Products

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

Localization for BPIFC Gene

Subcellular locations from UniProtKB/Swiss-Prot for BPIFC 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 BPIFC gene
Compartment Confidence
extracellular 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for BPIFC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with BPIFC: view

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

Pathways & Interactions for BPIFC Gene

SuperPathways for BPIFC Gene

No Data Available

Interacting Proteins for BPIFC Gene

Gene Ontology (GO) - Biological Process for BPIFC Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BPIFC Gene

Drugs & Compounds for BPIFC Gene

No Compound Related Data Available

Transcripts for BPIFC Gene

mRNA/cDNA for BPIFC Gene

(6) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BPIFC Gene

BPI fold containing family C:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for BPIFC Gene

GeneLoc Exon Structure for
BPIFC
ECgene alternative splicing isoforms for
BPIFC

Expression for BPIFC Gene

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

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

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x25.3) and Skin - Sun Exposed (Lower leg) (x24.6).

NURSA nuclear receptor signaling pathways regulating expression of BPIFC Gene:

BPIFC

SOURCE GeneReport for Unigene cluster for BPIFC Gene:

Hs.372939

mRNA Expression by UniProt/SwissProt for BPIFC Gene:

Q8NFQ6-BPIFC_HUMAN
Tissue specificity: Detected in the basal layer of the epidermis from inflammatory skin from psoriasis patients, but not in normal skin.

Evidence on tissue expression from TISSUES for BPIFC Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with BPIFC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BPIFC Gene

Orthologs for BPIFC Gene

This gene was present in the common ancestor of chordates.

Orthologs for BPIFC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BPIL2 33
  • 99.08 (n)
BPIFC 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BPIFC 33 34
  • 87.42 (n)
cow
(Bos Taurus)
Mammalia BPIFC 33 34
  • 86.82 (n)
rat
(Rattus norvegicus)
Mammalia Bpifc 33
  • 80.35 (n)
mouse
(Mus musculus)
Mammalia Bpifc 33 16 34
  • 78.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BPIFC 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BPIFC 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves BPIFCB 33
  • 52.77 (n)
BPIFC 34
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BPIFC 34
  • 26 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bpifcl 34
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToMany
Species where no ortholog for BPIFC 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 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)

Evolution for BPIFC Gene

ENSEMBL:
Gene Tree for BPIFC (if available)
TreeFam:
Gene Tree for BPIFC (if available)

Paralogs for BPIFC Gene

Paralogs for BPIFC Gene

(3) SIMAP similar genes for BPIFC Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with BPIFC: view

Variants for BPIFC Gene

Sequence variations from dbSNP and Humsavar for BPIFC Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000126898 -- 32,454,912(-) G/T intron_variant
rs1000129456 -- 32,437,909(-) T/C intron_variant
rs1000156191 -- 32,433,194(-) C/G intron_variant
rs1000180088 -- 32,416,834(-) C/G intron_variant
rs1000183670 -- 32,438,285(-) A/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv2658664 CNV deletion 23128226
esv3303919 CNV mobile element insertion 20981092
esv3306556 CNV mobile element insertion 20981092
esv3410878 CNV insertion 20981092
esv3411309 CNV insertion 20981092
esv3647606 CNV loss 21293372
nsv1055701 CNV gain 25217958
nsv1066118 CNV gain 25217958
nsv1136669 CNV deletion 24896259
nsv459874 CNV gain 19166990
nsv519086 CNV loss 19592680
nsv526513 CNV loss 19592680
nsv588895 CNV gain 21841781

Variation tolerance for BPIFC Gene

Residual Variation Intolerance Score: 90.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.42; 81.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BPIFC Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BPIFC Gene

Additional Disease Information for BPIFC

No disorders were found for BPIFC Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BPIFC Gene

Publications for BPIFC Gene

  1. Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP). (PMID: 12185532) Mulero JJ … Rupp F (Immunogenetics 2002) 3 4 58
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 58
  3. Genome-wide meta-analysis identifies new susceptibility loci for migraine. (PMID: 23793025) Anttila V … Palotie A (Nature genetics 2013) 3 58
  4. Large-scale identification of human genes implicated in epidermal barrier function. (PMID: 17562024) Toulza E … Guerrin M (Genome biology 2007) 3 58
  5. 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 58

Products for BPIFC Gene

Sources for BPIFC Gene

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