RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) [Homo sapiens] - Gene

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Summary

Official Symbol: RNASE2provided by HGNC
Official Full Name: ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)provided by HGNC
Primary source: HGNC:10045
See related: Ensembl:ENSG00000169385; HPRD:00577; MIM:131410; Vega:OTTHUMG00000029607
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EDN; RNS2

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Genomic context

Location :: 14q24-q31

Sequence :: Chromosome: 14; NC_000014.8 (21423630..21424594)

See RNASE2 in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Eosinophil protein X in urine from asymptomatic neonates is a biomarker significantly associated with later development of allergic sensitization, nasal eosinophilia, and eczema during the first 6 years of life
Title: Elevated eosinophil protein X in urine from healthy neonates precedes development of atopy in the first 6 years of life.
ECP and EDN disrupt skin integrity and cause inflammation
Title: Eosinophil ribonucleases and their cutaneous lesion-forming activity.
the roles of the six discrete segments in transcription regulation were investigated and the -350/-329 region (ednR2) was shown to be involved in the regulation of edn expression
Title: Transcriptional regulation of human eosinophil RNase2 by the liver-enriched hepatocyte nuclear factor 4.
No variation in genes encoding eosinophil-derived neurotoxin for Atopic dermatitis pathogenesis in this German cohort.
Title: Variation in genes encoding eosinophil granule proteins in atopic dermatitis patients from Germany.
In three continental population groups (Asia, Europe, Africa), the angiogenin and RNase 2 genes appear to exhibit markedly less genetic heterogeneity with regard to T195C and A238G (ANG) and C425A (RNASE2) SNPs.
Title: Three single nucleotide polymorphisms leading to non-synonymous amino acid substitution in the human ribonuclease 2 and angiogenin genes exhibit markedly less genetic heterogeneity in six populations.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Three single nucleotide polymorphisms leading to non-synonymous amino acid substitution in the human ribonuclease 2 and angiogenin genes exhibit markedly less genetic heterogeneity in six populations.
Data show that uEPX/c levels did not correlate with established markers of asthma severity and eosinophilic airway inflammation in atopic asthmatic children.
Title: Urinary eosinophil protein X in children with atopic asthma.
Urinary concentrations of eosinophil-derived neurotoxin in patients with atopic dermatitis show a significant positive correlation with disease severity.
Title: Urinary eosinophil-derived neurotoxin concentrations in patients with atopic dermatitis: a useful clinical marker for disease activity.
Observational study of gene-disease association. (HuGE Navigator)
Title: Variation in genes encoding eosinophil granule proteins in atopic dermatitis patients from Germany.
MAZ and Sp1 play important roles on the transcriptional activation of the human edn promoter through specific binding to a 34-nt segment present in representative primate eosinophil rnase promoters.
Title: Transcriptional regulation of human eosinophil RNases by an evolutionary- conserved sequence motif in primate genome.

Submit: New GeneRIF Correction See all (21)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P10153	P61221	ABCE1		HPRD	PubMed
BioGRID:111965	BioGRID:116168	YWHAQ		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
endonuclease activity	IEA Inferred from Electronic Annotation more info
hydrolase activity	IEA Inferred from Electronic Annotation more info
nucleic acid binding	IEA Inferred from Electronic Annotation more info
pancreatic ribonuclease activity	IEA Inferred from Electronic Annotation more info
ribonuclease activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
RNA catabolic process	TAS Traceable Author Statement more info	PubMed
chemotaxis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
extracellular region	TAS Traceable Author Statement more info	PubMed
lysosome	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: non-secretory ribonuclease

Names: non-secretory ribonuclease; RNase 2; RNase UpI-2; ribonuclease 2; ribonuclease US; eosinophil-derived neurotoxin

NP_002925.1

EC 3.1.27.5

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002934.2 → NP_002925.1 non-secretory ribonuclease precursor

Status: VALIDATED

Source sequence(s)

M28129, X55988

Consensus CDS

CCDS9561.1

UniProtKB/Swiss-Prot

P10153

Related

ENSP00000303276, OTTHUMP00000028293, ENST00000304625, OTTHUMT00000073799

Conserved Domains (1) summary

cd06265
Location:35 – 159
Blast Score: 299

RNase_A_canonical; Canonical RNase A family includes all vertebrate homologues to the bovine pancreatic ribonuclease A (RNase A) that contain the catalytic site, necessary for RNase activity. In the human genome 8 RNases , refered to as "canonical" RNases, have been ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

21423630..21424594

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

1544743..1545707

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF294007.1	AAG31577.1
genomic	AF294008.1	AAG31578.1
genomic	AF294009.1	AAG31579.1
genomic	AF294010.1	AAG31580.1
genomic	AF294011.1	AAG31581.1
genomic	AF294012.1	AAG31582.1
genomic	AF294013.1	AAG31583.1
genomic	AF294014.1	AAG31584.1
genomic	AF294015.1	AAG31585.1
genomic	AJ408458.1	CAC27640.1
genomic	AL355922.4 (47021..47985)	None
genomic	CH471078.2	EAW66435.1
genomic	X16546.1	CAA34546.1
genomic	X55987.1	CAA39459.1
mRNA	BC093678.1	AAH93678.1
mRNA	BC093680.1	AAH93680.1
mRNA	BC096059.3	AAH96059.1
mRNA	M24157.1	AAA52337.1
mRNA	M28129.1	AAA50284.1
mRNA	M30510.1	AAC82505.1
mRNA	X55988.1	CAA39460.1