RNASE3

protein-coding

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

Gene summary

The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein exhibits antimicrobial activity against pathogenic bacteria [provided by RefSeq, Oct 2014]

Previous symbols:

RNS3

MANE transcript

NM_002935.3

Inheritance

—

ClinVar variants

U:20B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr14:20,891,385-20,892,348

External References & Databases

Ensembl (ENSG00000169397)

Transcript & Mutation Effects

hg38 • Region Span ~1.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RNASE3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 25

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002935.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			20 clinvar	7 clinvar		27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	20	7	0	27

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002935.3	RefSeq	NP_002926.2	1	MANE Select
ENST00000304639.4	Ensembl	ENSP00000302324.3	1	MANE Select
ENST00001091252.1	Ensembl	ENSP00000761058.1	1	Standard
ENST00001091253.1	Ensembl	ENSP00000761059.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Asthma - Homo sapiens (human)
Neutrophil degranulation
Antimicrobial peptides
Innate Immune System
Immune System

Biological Process

innate immune response in mucosa
RNA catabolic process
antimicrobial humoral response
antibacterial humoral response
induction of bacterial agglutination

Molecular Function

lipopolysaccharide binding
nucleic acid binding
endonuclease activity
ribonuclease activity

Cellular Component

extracellular region
extracellular space
azurophil granule lumen

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000304639
Coding exons: 1
Length: 950

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.423	107	95.4	1.12	0.00000579	1041
Missense (PolyPhen)		27	30.461	0.88637		373
Synonymous	-0.168	33	31.8	1.04	0.00000148	338
Loss of Function

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.170

Intolerance Scores

LoFtool: 0.673
RVIS EVS: 0.39
RVIS percentile EVS: 76.05

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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