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RPS6KB2

ribosomal protein S6 kinase B2, the group of AGC family kinases

Basic information

Region (hg38): 11:67428459-67435401

Links

ENSG00000175634NCBI:6199OMIM:608939HGNC:10437Uniprot:Q9UBS0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPS6KB2 gene.

  • Inborn genetic diseases (29 variants)
  • not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPS6KB2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
29
clinvar
29
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
?
1
1
non coding
?
0
Total 0 0 29 1 0

Variants in RPS6KB2

This is a list of pathogenic ClinVar variants found in the RPS6KB2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
11-67428568-A-G Inborn genetic diseases Uncertain significance (May 23, 2023)2550648
11-67429572-T-C Inborn genetic diseases Uncertain significance (Jan 19, 2022)2272441
11-67431368-G-A Inborn genetic diseases Uncertain significance (Nov 09, 2022)2379918
11-67431402-A-G Inborn genetic diseases Uncertain significance (Feb 23, 2023)2457412
11-67431408-G-A Inborn genetic diseases Uncertain significance (Jul 27, 2021)2350224
11-67431455-G-A Inborn genetic diseases Uncertain significance (Dec 21, 2022)2337904
11-67431465-A-G Inborn genetic diseases Uncertain significance (Apr 27, 2022)2360661
11-67431513-G-A Inborn genetic diseases Uncertain significance (Feb 15, 2023)2485054
11-67432652-G-A Likely benign (Nov 01, 2022)2642017
11-67432740-C-G Inborn genetic diseases Uncertain significance (Nov 10, 2022)2376343
11-67432796-A-G Inborn genetic diseases Uncertain significance (Mar 21, 2023)2527853
11-67432798-C-T Inborn genetic diseases Uncertain significance (May 02, 2023)2520591
11-67432813-G-A Inborn genetic diseases Uncertain significance (Jun 03, 2022)2401470
11-67433158-A-G Inborn genetic diseases Uncertain significance (Jun 21, 2022)2205358
11-67433161-G-A Inborn genetic diseases Uncertain significance (Aug 10, 2021)2242804
11-67433199-G-A Inborn genetic diseases Uncertain significance (Dec 20, 2021)2268484
11-67433382-A-T Inborn genetic diseases Uncertain significance (May 23, 2023)2561323
11-67433990-C-T Likely benign (Nov 01, 2022)2642018
11-67433995-T-C Inborn genetic diseases Uncertain significance (Dec 20, 2022)2337592
11-67434050-A-T Inborn genetic diseases Uncertain significance (Jun 22, 2021)2234165
11-67434420-G-A Inborn genetic diseases Uncertain significance (Jan 20, 2023)2454310
11-67434426-C-T Inborn genetic diseases Uncertain significance (Feb 15, 2023)2473521
11-67434431-G-A Inborn genetic diseases Uncertain significance (Jan 31, 2022)2349931
11-67434595-T-C Inborn genetic diseases Uncertain significance (Aug 02, 2021)2382893
11-67434604-C-T Inborn genetic diseases Uncertain significance (Aug 12, 2021)2211588

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPS6KB2protein_codingprotein_codingENST00000312629 156942
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.96e-210.00043112463102131248440.000853
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2053163061.030.00001973090
Missense in Polyphen128112.411.13871196
Synonymous-1.671471231.190.00000777981
Loss of Function-0.6182925.61.130.00000127287

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001100.00108
Ashkenazi Jewish0.000.00
East Asian0.002300.00228
Finnish0.00004660.0000464
European (Non-Finnish)0.0008840.000874
Middle Eastern0.002300.00228
South Asian0.001280.00128
Other0.0003300.000330

dbNSFP

Source: dbNSFP

Function
FUNCTION: Phosphorylates specifically ribosomal protein S6.;
Pathway
PI3K-Akt signaling pathway - Homo sapiens (human);Gastric cancer - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Fc gamma R-mediated phagocytosis - Homo sapiens (human);TGF-beta signaling pathway - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Insulin resistance - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);IL-5 Signaling Pathway;AMP-activated Protein Kinase (AMPK) Signaling;Follicle Stimulating Hormone (FSH) signaling pathway;Angiopoietin Like Protein 8 Regulatory Pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Cytoplasmic Ribosomal Proteins;Insulin Signaling;IL-2 Signaling Pathway;Disease;Signal Transduction;AKT phosphorylates targets in the nucleus;IL-7 signaling;PIP3 activates AKT signaling;JAK STAT pathway and regulation;EPO signaling;Constitutive Signaling by AKT1 E17K in Cancer;PI3K/AKT Signaling in Cancer;VEGF;Intracellular signaling by second messengers;Diseases of signal transduction (Consensus)

Recessive Scores

pRec
0.286

Intolerance Scores

loftool
rvis_EVS
-0.31
rvis_percentile_EVS
32.15

Haploinsufficiency Scores

pHI
0.240
hipred
Y
hipred_score
0.512
ghis
0.529

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.905

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerHighMediumHigh

Mouse Genome Informatics

Gene name
Rps6kb2
Phenotype
neoplasm; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype;

Gene ontology

Biological process
translation;protein phosphorylation;signal transduction;intracellular signal transduction;protein kinase B signaling;positive regulation of translational initiation
Cellular component
nucleus;nucleoplasm;cytoplasm
Molecular function
protein kinase activity;protein serine/threonine kinase activity;ribosomal protein S6 kinase activity;ATP binding;peptide binding