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

Summary

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, Oct 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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Causal relationships between CD25 on immune cells and hip osteoarthritis.
Title: Causal relationships between CD25 on immune cells and hip osteoarthritis.
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.
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.
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.
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.
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.
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.
Host Interferon-Stimulated Gene 20 Inhibits Pseudorabies Virus Proliferation.
Title: Host Interferon-Stimulated Gene 20 Inhibits Pseudorabies Virus Proliferation.
Placenta-derived interferon-stimulated gene 20 controls ZIKA virus infection.
Title: Placenta-derived interferon-stimulated gene 20 controls ZIKA virus infection.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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 EBI GWAS CatalogPubMed
Wnt signaling and Dupuytren's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 3.1.13.1

NP_001290163.1

EC 3.1.13.1

NP_001290164.1

EC 3.1.13.1

NP_001290165.1

EC 3.1.13.1

NP_001290166.1

EC 3.1.13.1

NP_002192.2

EC 3.1.13.1

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_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
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
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
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
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
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

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