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    BPIFA4P BPI fold containing family A member 4, pseudogene [ Homo sapiens (human) ]

    Gene ID: 317716, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BPIFA4Pprovided by HGNC
    Official Full Name
    BPI fold containing family A member 4, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:20469
    See related
    Ensembl:ENSG00000290942 MIM:607627; AllianceGenome:HGNC:20469
    Gene type
    pseudo
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BASE
    Summary
    Predicted to enable lipid binding activity. Predicted to be involved in surfactant homeostasis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward salivary gland (RPKM 2.1) See more
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    Genomic context

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    See BPIFA4P in Genome Data Viewer
    Location:
    20q11.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33193605..33210462)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34920837..34937697)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31781411..31798268)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes 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 Neighboring gene suppressor of cytokine signaling 2 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:31811562-31812761 Neighboring gene BPI fold containing family A member 3 Neighboring gene uncharacterized LOC105372593 Neighboring gene BPI fold containing family A member 1

    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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    Related articles in PubMed

    1. Functional Study of Polymorphism 1888 C>T in the Promoter Region of Human PLUNC Gene. Liu B, et al. Am J Med Sci, 2021 Mar. PMID 33722345
    2. Estrogen induces repression of the breast cancer and salivary gland expression gene in an estrogen receptor alpha-dependent manner. Bretschneider N, et al. Cancer Res, 2008 Jan 1. PMID 18172302
    3. Discovery of the breast cancer gene BASE using a molecular approach to enrich for genes encoding membrane and secreted proteins. Egland KA, et al. Proc Natl Acad Sci U S A, 2003 Feb 4. PMID 12538848, Free PMC Article
    4. Expansion of the Bactericidal/Permeability Increasing-like (BPI-like) protein locus in cattle. Wheeler TT, et al. BMC Genomics, 2007 Mar 15. PMID 17362520, 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 (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional Study of Polymorphism 1888 C>T in the Promoter Region of Human PLUNC Gene.
      Title: Functional Study of Polymorphism 1888 C>T in the Promoter Region of Human PLUNC Gene.
    2. The focus of this study is on the expression and regulation of the estrogen-regulated breast cancer and salivary gland expression (BASE) gene that may function as a breast cancer marker.
      Title: Estrogen induces repression of the breast cancer and salivary gland expression gene in an estrogen receptor alpha-dependent manner.
    3. tissue distribution of BASE and its expression in cancer cell lines is described
      Title: Discovery of the breast cancer gene BASE using a molecular approach to enrich for genes encoding membrane and secreted proteins.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Other Names

    • PLUNC family pseudogene
    • breast cancer and salivary gland expression
    • gene expressed only in the salivary gland and breast cancers

    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.

    RNA

    1. NR_026760.1 RNA Sequence

      Status: PROVISIONAL

      Source sequence(s)
      AY180924
      Related
      ENST00000375465.7

    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
      33193605..33210462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      34920837..34937697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173859.1: Suppressed sequence

      Description
      NM_173859.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version

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