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    RNASE7 ribonuclease A family member 7 [ Homo sapiens (human) ]

    Gene ID: 84659, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RNASE7provided by HGNC
    Official Full Name
    ribonuclease A family member 7provided by HGNC
    Primary source
    HGNC:HGNC:19278
    See related
    Ensembl:ENSG00000165799 MIM:612484; AllianceGenome:HGNC:19278
    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
    RAE1
    Summary
    The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein has broad-spectrum antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]
    Expression
    Biased expression in esophagus (RPKM 35.9), skin (RPKM 11.5) and 1 other tissue See more
    Orthologs
    all
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    Genomic context

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    See RNASE7 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21042362..21044233)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15239769..15241640)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21510521..21512392)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NDRG family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5576 Neighboring gene microRNA 6717 Neighboring gene tubulin polymerization promoting protein family member 2 Neighboring gene ribonuclease A family member 13 (inactive) Neighboring gene ReSE screen-validated silencer GRCh37_chr14:21507297-21507461 Neighboring gene uncharacterized LOC105370398 Neighboring gene ribonuclease A family member 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The role of RNase 7 in innate cutaneous defense against Pseudomonas aeruginosa. Rademacher F, et al. Exp Dermatol, 2017 Mar. PMID 27513608
    2. RNase 7 protects healthy skin from Staphylococcus aureus colonization. Simanski M, et al. J Invest Dermatol, 2010 Dec. PMID 20668470
    3. Ribonuclease 7, an antimicrobial peptide upregulated during infection, contributes to microbial defense of the human urinary tract. Spencer JD, et al. Kidney Int, 2013 Apr. PMID 23302724, Free PMC Article
    4. Constitutive expression of the antimicrobial peptide RNase 7 is associated with Staphylococcus aureus infection of the skin. Zanger P, et al. J Infect Dis, 2009 Dec 15. PMID 19919305
    5. Prenatal human skin expresses the antimicrobial peptide RNase 7. Schuster C, et al. Arch Dermatol Res, 2013 Aug. PMID 23545750, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNase 7 Inhibits Uropathogenic Escherichia coli-Induced Inflammation in Bladder Cells under a High-Glucose Environment by Regulating the JAK/STAT Signaling Pathway.
      Title: RNase 7 Inhibits Uropathogenic Escherichia coli-Induced Inflammation in Bladder Cells under a High-Glucose Environment by Regulating the JAK/STAT Signaling Pathway.
    2. Ribonuclease 7 polymorphism rs1263872 reduces antimicrobial activity and associates with pediatric urinary tract infections.
      Title: Ribonuclease 7 polymorphism rs1263872 reduces antimicrobial activity and associates with pediatric urinary tract infections.
    3. Involvement of RNase 7 in the malignant potential of oral squamous cell carcinoma cells.
      Title: Involvement of RNase 7 in the malignant potential of oral squamous cell carcinoma cells.
    4. RNase 7 Promotes Sensing of Self-DNA by Human Keratinocytes and Activates an Antiviral Immune Response.
      Title: RNase 7 Promotes Sensing of Self-DNA by Human Keratinocytes and Activates an Antiviral Immune Response.
    5. RAE1 mediated ZEB1 expression promotes epithelial-mesenchymal transition in breast cancer.
      Title: RAE1 mediated ZEB1 expression promotes epithelial-mesenchymal transition in breast cancer.
    6. RNase 7 has a role in kidney and bladder host defense against uropathogenic Escherichia coli
      Title: Ribonuclease 7 Shields the Kidney and Bladder from Invasive Uropathogenic Escherichia coli Infection.
    7. RNase 7 may function as important effector molecule to control the growth of corynebacteria on human skin
      Title: RNase 7 participates in cutaneous innate control of Corynebacterium amycolatum.
    8. RNase 7 exhibits potent immunomodulatory functions and supports the efficient recognition of microbial infections by human skin-infiltrating pDCs.
      Title: RNase 7 Strongly Promotes TLR9-Mediated DNA Sensing by Human Plasmacytoid Dendritic Cells.
    9. These data suggest that the induction of RNase 7 in response to Mycobacterium tuberculosis could have a role in anti-mycobacterial immunity.
      Title: RNase 7 but not psoriasin nor sPLA2-IIA associates with Mycobacterium tuberculosis during airway epithelial cell infection.
    10. RNase 7 has immunomodulatory functions on TH2 cells and decreases the production of TH2 cytokines in the skin.
      Title: RNase 7 downregulates TH2 cytokine production by activated human T cells.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC133220

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA nuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA nuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipopolysaccharide binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidoglycan binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in antibacterial humoral response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytolysis in another organism 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-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 defense response to fungus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in innate immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ribonuclease 7
    Names
    RNase 7
    SAP-2
    ribonuclease, RNase A family, 7
    skin-derived antimicrobial protein 2

    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)

    1. NM_032572.4 → NP_115961.3  ribonuclease 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AL161668
      Consensus CDS
      CCDS41914.1
      UniProtKB/Swiss-Prot
      P80927, P83685, Q546N3, Q9H1E1
      UniProtKB/TrEMBL
      D3DS13
      Related
      ENSP00000298690.3, ENST00000298690.5
      Conserved Domains (1) summary
      pfam00074
      Location:35 → 153
      RnaseA; Pancreatic ribonuclease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      21042362..21044233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      15239769..15241640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1E1.2 GenPept UniProtKB/Swiss-Prot:Q9H1E1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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