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 Fold-Containing Family C Protein 3 4
  • BPI-Like 2 3 4
  • BPIL2 3 4
  • DJ149A16.7 2
  • BPIFC 5

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.

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 BPIFC Gene

Genomics for BPIFC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BPIFC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

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)
Size:
50,638 bases
Orientation:
Minus strand

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

  • Glycosylation at Asn213, Asn225, Asn257, Asn79, Asn92, Asn113, Asn301, Asn415, Asn355, and Asn372
  • Modification sites at PhosphoSitePlus

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

Protein Domains for BPIFC Gene

Suggested Antigen Peptide Sequences for BPIFC Gene

GenScript: Design optimal peptide antigens:
  • Bactericidal/permeability-increasing protein-like 2 (BPIL2_HUMAN)

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

CRISPR Products

Inhibitory RNA Products

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

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
mitochondrion 1
nucleus 1
cytoskeleton 0
peroxisome 0
cytosol 0
lysosome 0

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 IBA 21873635
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

PathCards logo

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

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 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 BPIFC

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

No ASD Table

Relevant External Links for BPIFC Gene

GeneLoc Exon Structure for
BPIFC

Expression for BPIFC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 99.08 (n)
BPIFC 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia BPIFC 30 31
  • 87.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BPIFC 30 31
  • 86.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bpifc 30
  • 80.35 (n)
Mouse
(Mus musculus)
Mammalia Bpifc 30 17 31
  • 78.95 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BPIFC 31
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BPIFC 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BPIFCB 30
  • 52.77 (n)
BPIFC 31
  • 34 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BPIFC 31
  • 26 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii bpifcl 31
  • 21 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 20 (a)
OneToMany
Species where no ortholog for BPIFC 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 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)
Aminode:
Evolutionary constrained regions (ECRs) for BPIFC: view image

Paralogs for BPIFC Gene

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

  • BPIFC_HUMAN
  • F5H3G0_HUMAN
  • Q5TI88_HUMAN
genes like me logo Genes that share paralogs with BPIFC: view

Variants for BPIFC Gene

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

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs2076051 - p.Val269Ala
rs35856742 - p.Glu479Ala
rs5994570 - p.Val302Leu
rs5998478 - p.Ser451Pro

Additional dbSNP identifiers (rs#s) for BPIFC Gene

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

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
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4
  3. Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts. (PMID: 31033252) Fu XG … Huang BY (Molecular genetics & genomic medicine 2019) 3
  4. Genome-wide meta-analysis identifies new susceptibility loci for migraine. (PMID: 23793025) Anttila V … Palotie A (Nature genetics 2013) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for BPIFC Gene

Sources for BPIFC Gene