RIOK2 RIO kinase 2 [Homo sapiens (human)] - Gene

Summary

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, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 5.0), ovary (RPKM 4.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q15

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (97160867..97183247, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (97661631..97684062, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (96496571..96518951, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94324 (e-PCR)
- UniSTS:89918

D5S1936 (e-PCR)
- UniSTS:62328

D5S1837 (e-PCR)
- UniSTS:76523

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	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

Process	Evidence Code	Pubs
involved_in chromatin remodeling	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

EC 2.7.11.1

NP_060813.2

EC 2.7.11.1

XP_016865117.1

EC 2.7.11.1

XP_054208886.1

EC 2.7.11.1

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)

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
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