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

Gene ID: 149954, updated on 12-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 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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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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