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GeneBe

RNASE2

ribonuclease A family member 2, the group of Ribonuclease A family

Basic information

Region (hg38): 14:20955486-20956436

Previous symbols: [ "RNS2" ]

Links

ENSG00000169385NCBI:6036OMIM:131410HGNC:10045Uniprot:P10153AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNASE2 gene.

  • Inborn genetic diseases (3 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE2 gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 0
missense 3 1 4
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 0
Total 0 0 3 1 0

Variants in RNASE2

This is a list of pathogenic ClinVar variants found in the RNASE2 region.

Position Type Phenotype Significance ClinVar
14-20955877-C-G Inborn genetic diseases Uncertain significance (Nov 17, 2022)link
14-20955889-A-G Inborn genetic diseases Uncertain significance (Oct 29, 2021)link
14-20955931-A-G Inborn genetic diseases Uncertain significance (Mar 03, 2022)link
14-20956082-A-C Likely benign (Dec 12, 2017)link
14-20956125-G-C Inborn genetic diseases Uncertain significance (Apr 19, 2023)link
14-20956165-A-G Inborn genetic diseases Uncertain significance (May 23, 2023)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RNASE2protein_codingprotein_codingENST00000304625 1985
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3847989.20.8860.000004681068
Missense in Polyphen2128.0970.7474360
Synonymous-1.314131.61.300.00000165313
Loss of Function

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Function
FUNCTION: This is a non-secretory ribonuclease. It is a pyrimidine specific nuclease with a slight preference for U. Cytotoxin and helminthotoxin. Selectively chemotactic for dendritic cells. Possesses a wide variety of biological activities. {ECO:0000269|PubMed:12578357, ECO:0000269|PubMed:3458170}.;
Pathway
Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Intolerance Scores

loftool
0.602
rvis_EVS
0.15
rvis_percentile_EVS
64.32

Haploinsufficiency Scores

pHI
0.212
hipred
N
hipred_score
0.112
ghis
0.440

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.619

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rnase2b
Phenotype

Gene ontology

Biological process
RNA catabolic process;chemotaxis;induction of bacterial agglutination;neutrophil degranulation;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;defense response to virus;RNA phosphodiester bond hydrolysis;RNA phosphodiester bond hydrolysis, endonucleolytic
Cellular component
extracellular region;azurophil granule lumen;extracellular exosome
Molecular function
lipopolysaccharide binding;nucleic acid binding;ribonuclease A activity;ribonuclease activity