RNASE2

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

Basic information

Region (hg38): 14:20955486-20956436

Previous symbols: [ "RNS2" ]

Links

ENSG00000169385 ∙ NCBI:6036 ∙ OMIM:131410 ∙ HGNC:10045 ∙ Uniprot:P10153 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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 (5 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.

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			5	1		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	5	1	0

Variants in RNASE2

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

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

Position	Type	Phenotype	Significance	ClinVar
14-20955877-C-G		not specified	Uncertain significance (Nov 17, 2022)
14-20955889-A-G		not specified	Uncertain significance (Oct 29, 2021)
14-20955926-A-G		not specified	Uncertain significance (Sep 26, 2023)
14-20955931-A-G		not specified	Uncertain significance (Mar 03, 2022)
14-20956082-A-C			Likely benign (Dec 12, 2017)
14-20956125-G-C		not specified	Uncertain significance (Apr 19, 2023)
14-20956165-A-G		not specified	Uncertain significance (May 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNASE2	protein_coding	protein_coding	ENST00000304625	1	985

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	0.384	79	89.2	0.886	0.00000468	1068
Missense in Polyphen		21	28.097	0.7474		360
Synonymous	-1.31	41	31.6	1.30	0.00000165	313
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
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_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.619

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rnase2b

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