Menu
GeneBe

RPLP2

ribosomal protein lateral stalk subunit P2, the group of L ribosomal proteins|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 11:809964-812880

Previous symbols: [ "D11S2243E" ]

Links

ENSG00000177600NCBI:6181OMIM:180530HGNC:10377Uniprot:P05387AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPLP2 gene.

  • Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPLP2 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
0
missense
6
clinvar
6
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
?
0
non coding
?
0
Total 0 0 6 0 0

Variants in RPLP2

This is a list of pathogenic ClinVar variants found in the RPLP2 region.

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

Position Type Phenotype Significance ClinVar
11-810296-A-G Inborn genetic diseases Uncertain significance (Nov 12, 2021)2260487
11-811634-T-C Inborn genetic diseases Uncertain significance (Mar 07, 2023)2495332
11-812538-T-C Inborn genetic diseases Uncertain significance (Sep 06, 2022)2310414
11-812546-C-T Inborn genetic diseases Uncertain significance (Feb 11, 2022)2277401
11-812622-C-T Inborn genetic diseases Uncertain significance (May 04, 2022)2287461
11-812783-A-G Inborn genetic diseases Uncertain significance (Mar 02, 2023)2464691

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPLP2protein_codingprotein_codingENST00000321153 43234
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.6670.313124785011247860.00000401
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.8298162.61.290.00000279737
Missense in Polyphen2115.5661.3491222
Synonymous-2.844425.71.710.00000132232
Loss of Function1.7503.580.001.51e-744

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.0001090.0000544
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.0001090.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays an important role in the elongation step of protein synthesis.;
Pathway
Ribosome - Homo sapiens (human);Cytoplasmic Ribosomal Proteins;SRP-dependent cotranslational protein targeting to membrane;Eukaryotic Translation Initiation;Eukaryotic Translation Termination;Translation;Selenocysteine synthesis;Metabolism of proteins;Metabolism of amino acids and derivatives;Metabolism of RNA;Formation of a pool of free 40S subunits;Metabolism;Nonsense-Mediated Decay (NMD);Selenoamino acid metabolism;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

pRec
0.281

Intolerance Scores

loftool
rvis_EVS
-0.19
rvis_percentile_EVS
39.68

Haploinsufficiency Scores

pHI
0.811
hipred
Y
hipred_score
0.713
ghis
0.625

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.925

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rplp2
Phenotype

Gene ontology

Biological process
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;translation;translational initiation;translational elongation;SRP-dependent cotranslational protein targeting to membrane
Cellular component
cytosol;focal adhesion;membrane;cytosolic large ribosomal subunit;synapse;extracellular exosome
Molecular function
structural constituent of ribosome;protein binding