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GeneBe

RNASE3

ribonuclease A family member 3, the group of Ribonuclease A family

Basic information

Region (hg38): 14:20891384-20892348

Previous symbols: [ "RNS3" ]

Links

ENSG00000169397NCBI:6037OMIM:131398HGNC:10046Uniprot:P12724AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNASE3 gene.

  • Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNASE3 gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 0
missense 5 2 7
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 0
Total 0 0 5 2 0

Variants in RNASE3

This is a list of pathogenic ClinVar variants found in the RNASE3 region.

Position Type Phenotype Significance ClinVar
14-20891741-A-C Inborn genetic diseases Likely benign (Aug 16, 2021)link
14-20891743-G-A Inborn genetic diseases Uncertain significance (Feb 14, 2023)link
14-20891745-G-C Inborn genetic diseases Uncertain significance (Aug 16, 2021)link
14-20891750-G-A Inborn genetic diseases Uncertain significance (Jun 21, 2022)link
14-20891825-C-T Inborn genetic diseases Likely benign (Jan 26, 2023)link
14-20891828-C-G Inborn genetic diseases Uncertain significance (May 04, 2023)link
14-20891870-T-C Inborn genetic diseases Likely benign (Apr 10, 2023)link
14-20891912-G-A Inborn genetic diseases Uncertain significance (Apr 22, 2022)link
14-20891913-C-T Inborn genetic diseases Uncertain significance (Mar 31, 2023)link
14-20891927-G-T Inborn genetic diseases Uncertain significance (May 18, 2022)link
14-20891949-G-A Inborn genetic diseases Uncertain significance (Dec 07, 2021)link
14-20891985-G-A Inborn genetic diseases Uncertain significance (May 24, 2023)link
14-20892129-G-A Inborn genetic diseases Likely benign (Jul 06, 2022)link
14-20892146-G-C Inborn genetic diseases Uncertain significance (May 05, 2023)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RNASE3protein_codingprotein_codingENST00000304639 1950
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
Missense-0.42310795.41.120.000005791041
Missense in Polyphen2730.4610.88637373
Synonymous-0.1683331.81.040.00000148338
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: Cytotoxin and helminthotoxin with low-efficiency ribonuclease activity. Possesses a wide variety of biological activities. Exhibits antibacterial activity, including cytoplasmic membrane depolarization of preferentially Gram-negative, but also Gram-positive strains. Promotes E.coli outer membrane detachment, alteration of the overall cell shape and partial loss of cell content. {ECO:0000269|PubMed:19450231, ECO:0000269|PubMed:2501794}.;
Pathway
Asthma - Homo sapiens (human);Neutrophil degranulation;Antimicrobial peptides;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec
0.170

Intolerance Scores

loftool
0.673
rvis_EVS
0.39
rvis_percentile_EVS
76.05

Haploinsufficiency Scores

pHI
0.158
hipred
N
hipred_score
0.112
ghis
0.391

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Raf1
Phenotype
homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; craniofacial phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype; immune system phenotype; skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; hematopoietic system phenotype; 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); 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); normal phenotype; neoplasm; embryo phenotype;

Gene ontology

Biological process
innate immune response in mucosa;RNA catabolic process;antimicrobial humoral response;antibacterial humoral response;induction of bacterial agglutination;neutrophil degranulation;innate immune response;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;antimicrobial humoral immune response mediated by antimicrobial peptide;RNA phosphodiester bond hydrolysis
Cellular component
extracellular region;extracellular space;azurophil granule lumen
Molecular function
lipopolysaccharide binding;nucleic acid binding;endonuclease activity;ribonuclease activity