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    BPIFB4 BPI fold containing family B member 4 [ Homo sapiens (human) ]

    Gene ID: 149954, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BPIFB4provided by HGNC
    Official Full Name
    BPI fold containing family B member 4provided by HGNC
    Primary source
    HGNC:HGNC:16179
    See related
    Ensembl:ENSG00000186191 MIM:615718; AllianceGenome:HGNC:16179
    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
    RY2G5; LPLUNC4; C20orf186; dJ726C3.5
    Summary
    Predicted to enable lipid binding activity. Located in actin cytoskeleton and cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See BPIFB4 in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33079643..33111751)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34806383..34838494)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31667449..31699557)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31640995-31641529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31641530-31642063 Neighboring gene pseudouridine 5'-phosphatase pseudogene 3 Neighboring gene BPI fold containing family B member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17726 Neighboring gene uncharacterized LOC105372714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31754103-31754604 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31754605-31755104 Neighboring gene BPI fold containing family A member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31765427-31765928

    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. The Longevity-Associated Variant of BPIFB4 Reduces Senescence in Glioma Cells and in Patients' Lymphocytes Favoring Chemotherapy Efficacy. Puca AA, et al. Cells, 2022 Jan 15. PMID 35053408, Free PMC Article
    2. New Insights for BPIFB4 in Cardiovascular Therapy. Dossena M, et al. Int J Mol Sci, 2020 Sep 28. PMID 32998388, Free PMC Article
    3. Circulating BPIFB4 Levels Associate With and Influence the Abundance of Reparative Monocytes and Macrophages in Long Living Individuals. Ciaglia E, et al. Front Immunol, 2020. PMID 32547549, Free PMC Article
    4. LAV-BPIFB4 associates with reduced frailty in humans and its transfer prevents frailty progression in old mice. Malavolta M, et al. Aging (Albany NY), 2019 Aug 28. PMID 31461407, Free PMC Article
    5. Single systemic transfer of a human gene associated with exceptional longevity halts the progression of atherosclerosis and inflammation in ApoE knockout mice through a CXCR4-mediated mechanism. Puca AA, et al. Eur Heart J, 2020 Jul 7. PMID 31289820, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The longevity-associated BPIFB4 gene guarantees vascular homeostasis and immune protection through platelets.
      Title: The longevity-associated BPIFB4 gene guarantees vascular homeostasis and immune protection through platelets.
    2. BPIFB4 and its longevity-associated haplotype protect from cardiac ischemia in humans and mice.
      Title: BPIFB4 and its longevity-associated haplotype protect from cardiac ischemia in humans and mice.
    3. The Longevity-Associated Variant of BPIFB4 Reduces Senescence in Glioma Cells and in Patients' Lymphocytes Favoring Chemotherapy Efficacy.
      Title: The Longevity-Associated Variant of BPIFB4 Reduces Senescence in Glioma Cells and in Patients' Lymphocytes Favoring Chemotherapy Efficacy.
    4. Single systemic transfer of a human gene associated with exceptional longevity halts the progression of atherosclerosis and inflammation in ApoE knockout mice through a CXCR4-mediated mechanism.
      Title: Single systemic transfer of a human gene associated with exceptional longevity halts the progression of atherosclerosis and inflammation in ApoE knockout mice through a CXCR4-mediated mechanism.
    5. Circulating BPIFB4 Levels Associate With and Influence the Abundance of Reparative Monocytes and Macrophages in Long Living Individuals.
      Title: Circulating BPIFB4 Levels Associate With and Influence the Abundance of Reparative Monocytes and Macrophages in Long Living Individuals.
    6. New Insights for BPIFB4 in Cardiovascular Therapy.
      Title: New Insights for BPIFB4 in Cardiovascular Therapy.
    7. LAV-BPIFB4 associates with reduced frailty in humans and its transfer prevents frailty progression in old mice.
      Title: LAV-BPIFB4 associates with reduced frailty in humans and its transfer prevents frailty progression in old mice.
    8. RV-BPIFB4 acts directly on blood pressure homeostasis and may represent a novel biomarker of vascular dysfunction and hypertension.
      Title: A rare genetic variant of BPIFB4 predisposes to high blood pressure via impairment of nitric oxide signaling.
    9. The results indicate that SNPs in BPIFB4 were associated with NSAID-induced small intestinal mucosal injury.
      Title: Bactericidal/Permeability-Increasing Fold-Containing Family B Member 4 May Be Associated with NSAID-Induced Enteropathy.
    10. LAV-BPIFB4 isoform modulates eNOS signalling through Ca2+/PKC-alpha-dependent mechanism.
      Title: LAV-BPIFB4 isoform modulates eNOS signalling through Ca2+/PKC-alpha-dependent mechanism.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    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 lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    BPI fold-containing family B member 4
    Names
    ligand-binding protein RY2G5
    likely ortholog of rat probable ligand-binding protein RY2G5
    long palate, lung and nasal epithelium carcinoma associated 4
    long palate, lung and nasal epithelium carcinoma-associated protein 4

    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_182519.3 → NP_872325.2  BPI fold-containing family B member 4 precursor

      See identical proteins and their annotated locations for NP_872325.2

      Status: VALIDATED

      Source sequence(s)
      AL121756
      Consensus CDS
      CCDS13213.2
      UniProtKB/Swiss-Prot
      P59827, Q5TDX6
      UniProtKB/TrEMBL
      A0A669KBJ0
      Related
      ENSP00000364632.3, ENST00000375483.4
      Conserved Domains (2) summary
      smart00329
      Location:414 → 614
      BPI2; BPI/LBP/CETP C-terminal domain
      smart00328
      Location:219 → 389
      BPI1; BPI/LBP/CETP N-terminal domain

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      33079643..33111751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      34806383..34838494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59827.2 GenPept UniProtKB/Swiss-Prot:P59827

    Gene LinkOut

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

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