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

Gene ID: 254240, updated on 17-Mar-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 active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward skin (RPKM 18.4) See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (32413845..32464446, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32877760..32928344, complement)
105.20220307 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. Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP). Mulero JJ, et al. Immunogenetics, 2002 Aug. PMID 12185532
  3. Large-scale identification of human genes implicated in epidermal barrier function. Toulza E, et al. Genome Biol, 2007. PMID 17562024, Free PMC Article
  4. Phylogenetic and evolutionary analysis of the PLUNC gene family. Bingle CD, et al. Protein Sci, 2004 Feb. PMID 14739326, Free PMC Article
  5. Genome-wide meta-analysis identifies new susceptibility loci for migraine. Anttila V, et al. Nat Genet, 2013 Aug. PMID 23793025, Free PMC Article

See all (10) 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)

Genotypes

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_2023_10

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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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