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

Gene ID: 553158, updated on 10-Oct-2023

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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Location:
22q13.31
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (44702204..44862784)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45185955..45346305)
105.20220307 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
  • 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

Homology

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_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
    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

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