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    BPIFC BPI fold containing family C [ Homo sapiens (human) ]

    Gene ID: 254240, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BPIFCprovided by HGNC
    Official Full Name
    BPI fold containing family Cprovided by HGNC
    Primary source
    HGNC:HGNC:16503
    See related
    Ensembl:ENSG00000184459 MIM:614109; AllianceGenome:HGNC:16503
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BPIL2
    Summary
    Predicted to enable lipid binding activity. Predicted to be involved in defense response to Gram-negative bacterium and innate immune response. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward skin (RPKM 18.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See BPIFC in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (32413845..32464446, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32877760..32928344, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32809832..32860433, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr22:32790650-32790847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18876 Neighboring gene RGL4 pseudogene 1 Neighboring gene RNA 2',3'-cyclic phosphate and 5'-OH ligase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18877 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32870558-32871058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32871059-32871559 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63238 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63240 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63244 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32897520-32898206 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:32898207-32898893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32924873-32925374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32925375-32925874 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32927678-32928315 Neighboring gene uncharacterized LOC124905103 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32928316-32928952 Neighboring gene F-box protein 7 Neighboring gene synapsin III

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts. Fu XG, et al. Mol Genet Genomic Med, 2019 Jun. PMID 31033252, Free PMC Article
    2. Transcriptomic Analyses and Experimental Validation Identified Immune-Related lncRNA-mRNA Pair MIR210HG-BPIFC Regulating the Progression of Hypertrophic Cardiomyopathy. Zhang Y, et al. Int J Mol Sci, 2024 Feb 29. PMID 38474063, Free PMC Article
    3. Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP). Mulero JJ, et al. Immunogenetics, 2002 Aug. PMID 12185532
    4. Large-scale identification of human genes implicated in epidermal barrier function. Toulza E, et al. Genome Biol, 2007. PMID 17562024, Free PMC Article
    5. Phylogenetic and evolutionary analysis of the PLUNC gene family. Bingle CD, et al. Protein Sci, 2004 Feb. PMID 14739326, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcriptomic Analyses and Experimental Validation Identified Immune-Related lncRNA-mRNA Pair MIR210HG-BPIFC Regulating the Progression of Hypertrophic Cardiomyopathy.
      Title: Transcriptomic Analyses and Experimental Validation Identified Immune-Related lncRNA-mRNA Pair MIR210HG-BPIFC Regulating the Progression of Hypertrophic Cardiomyopathy.
    2. BPIFC c.3G>C mutation segregates with hereditary trichilemmal cysts in a large Chinese family.
      Title: Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts.
    3. BPIL2maps to Chr 22q13. AA sequence is reported.
      Title: Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipopolysaccharide binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables phospholipid binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    BPI fold-containing family C protein
    Names
    BPI-like 2
    bactericidal/permeability-increasing protein-like 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_174932.3 → NP_777592.1  BPI fold-containing family C protein precursor

      See identical proteins and their annotated locations for NP_777592.1

      Status: VALIDATED

      Source sequence(s)
      AF465766, AL021937, CK823453, CU456409
      Consensus CDS
      CCDS13906.1
      UniProtKB/Swiss-Prot
      A2RRF1, Q8NFQ6
      Related
      ENSP00000300399.3, ENST00000300399.9
      Conserved Domains (2) summary
      pfam01273
      Location:38 → 210
      LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain
      cl00188
      Location:242 → 478
      BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      32413845..32464446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028740.2 → XP_016884229.1  BPI fold-containing family C protein isoform X3

    2. XM_047441302.1 → XP_047297258.1  BPI fold-containing family C protein isoform X2

    3. XM_011530090.2 → XP_011528392.1  BPI fold-containing family C protein isoform X1

      See identical proteins and their annotated locations for XP_011528392.1

      UniProtKB/Swiss-Prot
      A2RRF1, Q8NFQ6
      Conserved Domains (2) summary
      pfam01273
      Location:38 → 210
      LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain
      cl00188
      Location:242 → 478
      BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...

    4. XM_011530089.2 → XP_011528391.1  BPI fold-containing family C protein isoform X1

      See identical proteins and their annotated locations for XP_011528391.1

      UniProtKB/Swiss-Prot
      A2RRF1, Q8NFQ6
      Conserved Domains (2) summary
      pfam01273
      Location:38 → 210
      LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain
      cl00188
      Location:242 → 478
      BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...

    5. XM_047441303.1 → XP_047297259.1  BPI fold-containing family C protein isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      32877760..32928344 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325459.1 → XP_054181434.1  BPI fold-containing family C protein isoform X3

    2. XM_054325458.1 → XP_054181433.1  BPI fold-containing family C protein isoform X2

    3. XM_054325457.1 → XP_054181432.1  BPI fold-containing family C protein isoform X1

    4. XM_054325456.1 → XP_054181431.1  BPI fold-containing family C protein isoform X1

    5. XM_054325460.1 → XP_054181435.1  BPI fold-containing family C protein isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFQ6.1 GenPept UniProtKB/Swiss-Prot:Q8NFQ6

    Gene LinkOut

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