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    PRR5-ARHGAP8 PRR5-ARHGAP8 readthrough [ Homo sapiens (human) ]

    Gene ID: 553158, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PRR5-ARHGAP8provided by HGNC
    Official Full Name
    PRR5-ARHGAP8 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:34512
    See related
    Ensembl:ENSG00000248405 AllianceGenome:HGNC:34512
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The PRR5-ARHGAP8 mRNA is an infrequent but naturally occurring read-through transcript of the neighboring proline rich 5, renal (PRR5) and Rho GTPase activating protein 8 (ARHGAP8) genes. The resulting fusion protein contains sequence identity with each individual gene product, and it includes domains characteristic of a RhoGAP protein. The significance of this read-through transcript and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2010]
    Expression
    Broad expression in kidney (RPKM 5.8), spleen (RPKM 4.9) and 21 other tissues See more
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    Genomic context

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    See PRR5-ARHGAP8 in Genome Data Viewer
    Location:
    22q13.31
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (44702204..44862784)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45185955..45346305)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45098084..45258664)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19212 Neighboring gene uncharacterized LOC124905132 Neighboring gene acidic nuclear phosphoprotein 32 family member B pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45075286-45076182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45079991-45080530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45081707-45082207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45095169-45095709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13869 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45102723-45103498 Neighboring gene proline rich 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45105554-45106385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45110087-45110588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45118011-45118847 Neighboring gene Sharpr-MPRA regulatory region 7347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45120565-45121066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45131503-45132091 Neighboring gene Rho GTPase activating protein 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:45175450-45175950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45178826-45179382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45181768-45182308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45182309-45182849 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45196797-45197331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45202373-45202928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45202929-45203484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45211671-45212299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45232905-45233406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45237719-45238416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45255234-45255928 Neighboring gene uncharacterized LOC105373062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45259453-45260206 Neighboring gene uncharacterized LOC124905133 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:45264084-45265283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45265953-45266864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45283652-45284216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45286475-45286976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45290290-45291254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45291255-45292218 Neighboring gene PHD finger protein 21B Neighboring gene ribosomal protein L6 pseudogene 28

    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. PRR5 encodes a conserved proline-rich protein predominant in kidney: analysis of genomic organization, expression, and mutation status in breast and colorectal carcinomas. Johnstone CN, et al. Genomics, 2005 Mar. PMID 15718101
    2. Bipolar disorder with comorbid binge eating history: a genome-wide association study implicates APOB. Winham SJ, et al. J Affect Disord, 2014 Aug. PMID 24882193, Free PMC Article
    3. Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6. Kang SJ, et al. Genes Brain Behav, 2012 Aug. PMID 22554406, Free PMC Article
    4. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Ludwig KU, et al. Nat Genet, 2012 Sep. PMID 22863734, Free PMC Article
    5. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB.
    EBI GWAS Catalog
    Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.
    EBI GWAS Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    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

    General protein information

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    Preferred Names
    PRR5-ARHGAP8 fusion protein
    Names
    PRR5-ARHGAP8 fusion

    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.

    Genomic

    1. NG_046967.1 RefSeqGene

      Range
      5001..165587
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_181334.6 → NP_851851.3  PRR5-ARHGAP8 fusion protein

      Status: REVIEWED

      Source sequence(s)
      AF195968, BX335168, Z83838, Z98743
      UniProtKB/TrEMBL
      A6NDT3, B1AHC3, H0Y9T8
      Related
      ENSP00000354732.5, ENST00000361473.9
      Conserved Domains (2) summary
      cd00170
      Location:143 → 288
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cl02570
      Location:322 → 512
      RhoGAP; GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when bound to ...

    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
      44702204..44862784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      45185955..45346305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials