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RIOK2 RIO kinase 2 [ Homo sapiens (human) ]

Gene ID: 55781, updated on 5-Mar-2024

Summary

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Official Symbol
RIOK2provided by HGNC
Official Full Name
RIO kinase 2provided by HGNC
Primary source
HGNC:HGNC:18999
See related
Ensembl:ENSG00000058729 MIM:617754; AllianceGenome:HGNC:18999
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
RIO2
Summary
Predicted to enable protein kinase activity. Involved in several processes, including positive regulation of rRNA processing; positive regulation of ribosomal small subunit export from nucleus; and regulation of mitotic metaphase/anaphase transition. Located in cytoplasm. Part of preribosome, small subunit precursor. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 5.0), ovary (RPKM 4.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
5q15
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (97160867..97183247, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (97661631..97684062, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (96496571..96518951, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9279 Neighboring gene SET pseudogene 22 Neighboring gene LIX1 and RIOK2 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:96459480-96460679 Neighboring gene limb and CNS expressed 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16202 Neighboring gene RNA, U1 small nuclear 73, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22833 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:96669582-96669797 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:96724001-96725200 Neighboring gene YTH domain family member 1 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:96735958-96736798 Neighboring gene SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5) pseudogene

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. RIOK2 Contributes to Cell Growth and Protein Synthesis in Human Oral Squamous Cell Carcinoma. Matsuzaki Y, et al. Curr Oncol, 2022 Dec 26. PMID 36661680, Free PMC Article
  2. Identification of RIOK2 as a master regulator of human blood cell development. Ghosh S, et al. Nat Immunol, 2022 Jan. PMID 34937919
  3. RIOK2 phosphorylation by RSK promotes synthesis of the human small ribosomal subunit. Cerezo EL, et al. PLoS Genet, 2021 Jun. PMID 34125833, Free PMC Article
  4. In vitro dimerization of human RIO2 kinase. Maurice F, et al. RNA Biol, 2019 Nov. PMID 31390939, Free PMC Article
  5. Discovery of selective RIO2 kinase small molecule ligand. Varin T, et al. Biochim Biophys Acta, 2015 Oct. PMID 25891899

See all (59) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RIOK2 Contributes to Cell Growth and Protein Synthesis in Human Oral Squamous Cell Carcinoma.
    Title: RIOK2 Contributes to Cell Growth and Protein Synthesis in Human Oral Squamous Cell Carcinoma.
  2. Identification of RIOK2 as a master regulator of human blood cell development.
    Title: Identification of RIOK2 as a master regulator of human blood cell development.
  3. BYSL contributes to tumor growth by cooperating with the mTORC2 complex in gliomas.
    Title: BYSL contributes to tumor growth by cooperating with the mTORC2 complex in gliomas.
  4. RIOK2 phosphorylation by RSK promotes synthesis of the human small ribosomal subunit.
    Title: RIOK2 phosphorylation by RSK promotes synthesis of the human small ribosomal subunit.
  5. RIOK2 is negatively regulated by miR-4744 and promotes glioma cell migration/invasion through epithelial-mesenchymal transition.
    Title: RIOK2 is negatively regulated by miR-4744 and promotes glioma cell migration/invasion through epithelial-mesenchymal transition.
  6. Results describe three atomic structures of RIO2 kinase showing that it forms homodimer in vitro. Upon self-association, each protomer ATP-binding pocket is partially remodeled. The homodimerization is mediated by key residues previously shown to be responsible for ATP binding and catalysis. This data reveals an intricate mechanism where identical residues are involved in substrate binding and oligomeric state formation.
    Title: In vitro dimerization of human RIO2 kinase.
  7. These results suggested that RIOK2 and NOB1 may be potential targets in the treatment of Non-small cell lung cancer (NSCLC), and miR145 may be considered a therapeutic inhibitor of both genes.
    Title: miR‑145 inhibits human non‑small-cell lung cancer growth by dual-targeting RIOK2 and NOB1.
  8. As RIO2 is involved in the biosynthesis of the ribosome and cell cycle regulation, our selective ligand may be useful for the delineation of the biological role of this kinase.
    Title: Discovery of selective RIO2 kinase small molecule ligand.
  9. reduced expression of RIOK1 or RIOK2 disrupted Akt signaling and caused cell cycle exit, apoptosis, and chemosensitivity in glioblastoma cells
    Title: A kinome-wide RNAi screen in Drosophila Glia reveals that the RIO kinases mediate cell proliferation and survival through TORC2-Akt signaling in glioblastoma.
  10. Plk1-mediated phosphorylation of Rio2 regulates metaphase-anaphase transition during mitotic progression.
    Title: Phosphorylation of right open reading frame 2 (Rio2) protein kinase by polo-like kinase 1 regulates mitotic progression.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11159

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in maturation of SSU-rRNA IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in maturation of SSU-rRNA IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of rRNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of ribosomal small subunit export from nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein autophosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of mitotic metaphase/anaphase transition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ribosomal small subunit biogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of preribosome, small subunit precursor IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of preribosome, small subunit precursor IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
serine/threonine-protein kinase RIO2
NP_001153221.1
NP_060813.2
XP_016865117.1
XP_054208886.1

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_001159749.2 → NP_001153221.1  serine/threonine-protein kinase RIO2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK225348, DB240299
    Consensus CDS
    CCDS54884.1
    UniProtKB/Swiss-Prot
    Q9BVS4
    Related
    ENSP00000420932.1, ENST00000508447.1
    Conserved Domains (3) summary
    COG0478
    Location:8 → 308
    RIO2; RIO-like serine/threonine protein kinase fused to N-terminal HTH domain [Signal transduction mechanisms]
    cd05144
    Location:94 → 276
    RIO2_C; C-terminal catalytic domain of the atypical protein serine kinase, RIO2 kinase
    pfam09202
    Location:9 → 91
    Rio2_N; Rio2, N-terminal

  2. NM_018343.3 → NP_060813.2  serine/threonine-protein kinase RIO2 isoform 1

    See identical proteins and their annotated locations for NP_060813.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC008865, AK002021, CA415109, DB240299
    Consensus CDS
    CCDS4089.1
    UniProtKB/Swiss-Prot
    D6RDI3, Q9BVS4, Q9NUT0
    Related
    ENSP00000283109.3, ENST00000283109.8
    Conserved Domains (2) summary
    cd05144
    Location:94 → 276
    RIO2_C; C-terminal catalytic domain of the atypical protein serine kinase, RIO2 kinase
    pfam09202
    Location:9 → 91
    Rio2_N; Rio2, N-terminal

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    97160867..97183247 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009628.2 → XP_016865117.1  serine/threonine-protein kinase RIO2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    97661631..97684062 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352911.1 → XP_054208886.1  serine/threonine-protein kinase RIO2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BVS4.2 GenPept UniProtKB/Swiss-Prot:Q9BVS4

Gene LinkOut

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