RNASE8 ribonuclease A family member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNASE8provided by HGNC
Official Full Name: ribonuclease A family member 8provided by HGNC
Primary source: HGNC:HGNC:19277
See related: Ensembl:ENSG00000173431 MIM:612485; AllianceGenome:HGNC:19277
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAE2
Summary: The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein is expressed prominently in the placenta and exhibits antimicrobial activity against pathogenic bacteria and fungi. [provided by RefSeq, Oct 2014]
Orthologs: all
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Genomic context

Location:: 14q11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (21057822..21058455)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (15255254..15255887)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (21525981..21526614)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNase 8 was identified as a human antimicrobial protein with a broad spectrum activity against pathogenic organisms.
Title: Identification of RNase 8 as a novel human antimicrobial protein.
Only two single-nucleotide polymorphisms and four unique alleles were identified within the RNase 8 coding sequence.
Title: Genetic diversity of human RNase 8.
Study shows that both the loss and gain of the cysteines in human RNase 8 occurred in the common ancestor of African great apes (humans, chimps, and gorillas) 7-13 MYA.
Title: Disulfide-bond reshuffling in the evolution of an ape placental ribonuclease.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484106

RNASE8__5509 (e-PCR)
- UniSTS:463868

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA nuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables ribonuclease A activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in antifungal innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-negative bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-negative bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-negative bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to Gram-positive bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to fungus	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ribonuclease 8

Names: RNase 8, placental; ribonuclease, RNase A family, 8

NCBI Reference Sequences (RefSeq)

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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_138331.2 → NP_612204.1 ribonuclease 8 precursor

Status: REVIEWED

Source sequence(s)

AL161668

Consensus CDS

CCDS9567.1

UniProtKB/Swiss-Prot

B2RPP6, B2RPP7, Q8TDE3

UniProtKB/TrEMBL

H2FJY7

Related

ENSP00000311398.2, ENST00000308227.2

Conserved Domains (1) summary

pfam00074
Location:34 → 151

RnaseA; Pancreatic ribonuclease