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ISG20 interferon stimulated exonuclease gene 20 [ Homo sapiens (human) ]

Gene ID: 3669, updated on 12-Nov-2024

Summary

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Official Symbol
ISG20provided by HGNC
Official Full Name
interferon stimulated exonuclease gene 20provided by HGNC
Primary source
HGNC:HGNC:6130
See related
Ensembl:ENSG00000172183 MIM:604533; AllianceGenome:HGNC:6130
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
CD25; HEM45
Summary
Enables 3'-5' exonuclease activity and RNA binding activity. Involved in several processes, including DNA catabolic process; defense response to virus; and negative regulation of viral genome replication. Located in cytoplasm and nuclear lumen. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in lymph node (RPKM 12.2), spleen (RPKM 8.7) and 13 other tissues See more
Orthologs
mouse all
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Genomic context

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See ISG20 in Genome Data Viewer
Location:
15q26.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88635632..88656483)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86390338..86411119)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89178863..89199714)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:89156265-89156949 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89163779-89164452 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89164453-89165126 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:89166102-89167301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89169771-89170314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10029 Neighboring gene microRNA 1179 Neighboring gene microRNA 3529 Neighboring gene microRNA 7-2 Neighboring gene Sharpr-MPRA regulatory region 1748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89181184-89182162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89182163-89183141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10033 Neighboring gene apoptosis enhancing nuclease Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89191225-89191986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10035 Neighboring gene uncharacterized LOC105370960 Neighboring gene aggrecan Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89390146-89390646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89390647-89391147 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89391205-89391372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89421781-89422356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89428493-89429204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89438001-89438612 Neighboring gene hyaluronan and proteoglycan link protein 3

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. Cloning, eukaryotic expression of human ISG20 and preliminary study on the effect of its anti-HBV. Hao Y, et al. J Huazhong Univ Sci Technolog Med Sci, 2008 Feb. PMID 18278447
  2. Stimulation of Interferon-Stimulated Gene 20 by Thyroid Hormone Enhances Angiogenesis in Liver Cancer. Lin SL, et al. Neoplasia, 2018 Jan. PMID 29195126, Free PMC Article
  3. Interferon-stimulated gene of 20 kDa protein (ISG20) degrades RNA of hepatitis B virus to impede the replication of HBV in vitro and in vivo. Leong CR, et al. Oncotarget, 2016 Oct 18. PMID 27626689, Free PMC Article
  4. Assignment of ISG20 encoding a new interferon-induced PML nuclear body-associated protein, to chromosome 15q26 by in situ hybridization. Mattei MG, et al. Cytogenet Cell Genet, 1997. PMID 9605874
  5. Expression and estrogen regulation of the HEM45 MRNA in human tumor lines and in the rat uterus. Pentecost BT. J Steroid Biochem Mol Biol, 1998 Jan. PMID 9569007

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The PTPRZ1-MET/STAT3/ISG20 axis in glioma stem-like cells modulates tumor-associated macrophage polarization.
    Title: The PTPRZ1-MET/STAT3/ISG20 axis in glioma stem-like cells modulates tumor-associated macrophage polarization.
  2. FOSL2-mediated transcription of ISG20 induces M2 polarization of macrophages and enhances tumorigenic ability of glioblastoma cells.
    Title: FOSL2-mediated transcription of ISG20 induces M2 polarization of macrophages and enhances tumorigenic ability of glioblastoma cells.
  3. Causal relationships between CD25 on immune cells and hip osteoarthritis.
    Title: Causal relationships between CD25 on immune cells and hip osteoarthritis.
  4. ISG20 stimulates anti-tumor immunity via a double-stranded RNA-induced interferon response in ovarian cancer.
    Title: ISG20 stimulates anti-tumor immunity via a double-stranded RNA-induced interferon response in ovarian cancer.
  5. Expression of interferon-stimulated gene 20 (ISG20), an antiviral effector protein, in glomerular endothelial cells: possible involvement of ISG20 in lupus nephritis.
    Title: Expression of interferon-stimulated gene 20 (ISG20), an antiviral effector protein, in glomerular endothelial cells: possible involvement of ISG20 in lupus nephritis.
  6. Characterization of the induction kinetics and antiviral functions of IRF1, ISG15 and ISG20 in cells infected with gammacoronavirus avian infectious bronchitis virus.
    Title: Characterization of the induction kinetics and antiviral functions of IRF1, ISG15 and ISG20 in cells infected with gammacoronavirus avian infectious bronchitis virus.
  7. Internal RNA 2'O-methylation in the HIV-1 genome counteracts ISG20 nuclease-mediated antiviral effect.
    Title: Internal RNA 2'O-methylation in the HIV-1 genome counteracts ISG20 nuclease-mediated antiviral effect.
  8. The regulation of ISG20 expression on SARS-CoV-2 infection in cancer patients and healthy individuals.
    Title: The regulation of ISG20 expression on SARS-CoV-2 infection in cancer patients and healthy individuals.
  9. High expression of ISG20 predicts a poor prognosis in acute myeloid leukemia.
    Title: High expression of ISG20 predicts a poor prognosis in acute myeloid leukemia.
  10. Host Interferon-Stimulated Gene 20 Inhibits Pseudorabies Virus Proliferation.
    Title: Host Interferon-Stimulated Gene 20 Inhibits Pseudorabies Virus Proliferation.
Submit: New GeneRIF Correction See all GeneRIFs (23)

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Wnt signaling and Dupuytren's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat upregulates the interferon-responsive gene expression of many proteins, including HEM45, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection PubMed
Vpr vpr HIV-1 Vpr upregulates the expression of ISG20 in human monocyte-derived dendritic cells PubMed
Vpu vpu The expression of ISG20 is enhanced in Vpu-deficient HIV-1-infected cells as compared to that in wild-type-infected cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3'-5'-RNA exonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables U1 snRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables U2 snRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables U3 snoRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables exonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables exonuclease activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables exoribonuclease II activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables single-stranded DNA 3'-5' DNA exonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in RNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in RNA catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in RNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response to virus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response to virus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of viral genome replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of viral genome replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in rRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in response to virus IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Cajal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in P-body IEA
Inferred from Electronic Annotation
more info
  
located_in PML body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
interferon-stimulated gene 20 kDa protein
Names
estrogen-regulated transcript 45 protein
interferon stimulated exonuclease gene 20kDa
promyelocytic leukemia nuclear body-associated protein ISG20
NP_001290162.1
NP_001290163.1
NP_001290164.1
NP_001290165.1
NP_001290166.1
NP_002192.2

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_001303233.2 → NP_001290162.1  interferon-stimulated gene 20 kDa protein isoform a

    See identical proteins and their annotated locations for NP_001290162.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC104259, AK307769, AV737297, BM691295, BX339191
    Consensus CDS
    CCDS10345.1
    UniProtKB/Swiss-Prot
    O00441, O00586, Q96AZ6
    Conserved Domains (1) summary
    cl10012
    Location:8 → 163
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

  2. NM_001303234.2 → NP_001290163.1  interferon-stimulated gene 20 kDa protein isoform a

    See identical proteins and their annotated locations for NP_001290163.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC104259, AK307769, AV737297, BI838264, BM691295, BX339191
    Consensus CDS
    CCDS10345.1
    UniProtKB/Swiss-Prot
    O00441, O00586, Q96AZ6
    Related
    ENSP00000368526.6, ENST00000379224.10
    Conserved Domains (1) summary
    cl10012
    Location:8 → 163
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

  3. NM_001303235.2 → NP_001290164.1  interferon-stimulated gene 20 kDa protein isoform b

    See identical proteins and their annotated locations for NP_001290164.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences in the 5' UTR and 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (b).
    Source sequence(s)
    AC104259, AK122793, AK307769, BM691295
    UniProtKB/TrEMBL
    Q59F22
    Conserved Domains (1) summary
    cl10012
    Location:64 → 152
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

  4. NM_001303236.2 → NP_001290165.1  interferon-stimulated gene 20 kDa protein isoform b

    See identical proteins and their annotated locations for NP_001290165.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice junction at the 5' end of an internal exon, resulting in translation initiation at an alternate start codon compared to variant 1. The encoded isoform (b) has a shorter and distinct N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (b).
    Source sequence(s)
    AC104259, AK122793, AK307769, BC016341, BG759382
    UniProtKB/TrEMBL
    Q59F22
    Conserved Domains (1) summary
    cl10012
    Location:64 → 152
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

  5. NM_001303237.2 → NP_001290166.1  interferon-stimulated gene 20 kDa protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate in-frame splice junction at the 5' end of an internal exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC104259, AK307769, AV737297, BG759382, BX339191, CN265233
    Consensus CDS
    CCDS92053.1
    UniProtKB/TrEMBL
    H0YMM4
    Related
    ENSP00000453666.2, ENST00000559876.2
    Conserved Domains (1) summary
    cl10012
    Location:8 → 143
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

  6. NM_002201.6 → NP_002192.2  interferon-stimulated gene 20 kDa protein isoform a

    See identical proteins and their annotated locations for NP_002192.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC104259, AK307769, BC007922, BG759382, BX339191
    Consensus CDS
    CCDS10345.1
    UniProtKB/Swiss-Prot
    O00441, O00586, Q96AZ6
    Related
    ENSP00000306565.5, ENST00000306072.10
    Conserved Domains (1) summary
    cl10012
    Location:8 → 163
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

RNA

  1. NR_130134.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) has an alternate first exon in place of the first two exons compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AC104259, AK307769, AV737297, BM691295, BX339191

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    88635632..88656483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    86390338..86411119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96AZ6.2 GenPept UniProtKB/Swiss-Prot:Q96AZ6

Gene LinkOut

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