USP17L2 ubiquitin specific peptidase 17 like family member 2 (gene/pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP17L2provided by HGNC
Official Full Name: ubiquitin specific peptidase 17 like family member 2 (gene/pseudogene)provided by HGNC
Primary source: HGNC:HGNC:34434
See related: Ensembl:ENSG00000223443 MIM:610186; AllianceGenome:HGNC:34434
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: DUB3; DUB-3; USP17
Summary: DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM, Mar 2008]
Annotation information: Annotation category: suggests misassembly
Orthologs: all
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Genomic context

Location:: 8p23.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (12136435..12138849, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (7595654..7598068)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (11993944..11996358, complement)

Chromosome 8 - NC_000008.11 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?

Clinicopathological Significance of DUB3 Expression in Non-small Cell Lung Cancer and Relationship Between DUB3 Expression and LATS1 Expression.
Title: Clinicopathological Significance of DUB3 Expression in Non-small Cell Lung Cancer and Relationship Between DUB3 Expression and LATS1 Expression.
USP17L2-SIRT7 axis regulates DNA damage repair and chemoresistance in breast cancer cells.
Title: USP17L2-SIRT7 axis regulates DNA damage repair and chemoresistance in breast cancer cells.
NXN suppresses metastasis of hepatocellular carcinoma by promoting degradation of Snail through binding to DUB3.
Title: NXN suppresses metastasis of hepatocellular carcinoma by promoting degradation of Snail through binding to DUB3.
DUB3 deubiquitinates and stabilizes NRF2 in chemotherapy resistance of colorectal cancer.
Title: DUB3 deubiquitinates and stabilizes NRF2 in chemotherapy resistance of colorectal cancer.
DUB3 functions as a novel cyclin A regulator through maintaining cyclin A stability.
Title: Deubiquitinase DUB3 Regulates Cell Cycle Progression via Stabilizing Cyclin A for Proliferation of Non-Small Cell Lung Cancer Cells.
further analysis revealed 2 hemizygous deletions in the grandmother that segregate in several of her affected offspring. The first deletion was found in the UGT2B28 locus, spanning 7 informative sequence variants across at least 14 kb. The second deletion, located in USP17L2, spans 3 informative variants across at least 2 kb. On the whole, the findings of the presents study implicate 2 additional genes in the pathogenesis
Title: Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis.
our results revealed the essential role of the MGMT-DUB3-MCL1 axis in the chemoresistance of ovarian cancer and identified that a combined treatment with HDACis and PaTrin-2 is an effective method for overcoming chemoresistance in ovarian cancer.
Title: MGMT-activated DUB3 stabilizes MCL1 and drives chemoresistance in ovarian cancer.
DUB3 promotes BET inhibitor resistance and cancer progression by deubiquitinating BRD4.
Title: DUB3 Promotes BET Inhibitor Resistance and Cancer Progression by Deubiquitinating BRD4.
Dub3 is identified as a bona fide Snail1 deubiquitinase, which interacts with and stabilizes Snail1.
Title: Dub3 inhibition suppresses breast cancer invasion and metastasis by promoting Snail1 degradation.
these data identify DUB3 and USP7 as factors that regulate DNA replication by controlling Geminin protein stability, and suggest that USP7 may be involved in Geminin dysregulation during breast cancer progression.
Title: DUB3 and USP7 de-ubiquitinating enzymes control replication inhibitor Geminin: molecular characterization and associations with breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G01912 (e-PCR)
- UniSTS:16665

G42601 (e-PCR)
- UniSTS:94504

SHGC-145429 (e-PCR)
- UniSTS:183854

NoName (e-PCR)
- UniSTS:484239

G34441 (e-PCR)
- UniSTS:65683

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cysteine-type deubiquitinase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in CAAX-box protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in MAPK cascade	TAS Traceable Author Statement more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein targeting to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MDA-5 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of RIG-I signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K48-linked deubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K63-linked deubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein deubiquitination	TAS Traceable Author Statement more info
involved_in regulation of G2/MI transition of meiotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of defense response to virus by host	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein stability	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of ruffle assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
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: ubiquitin carboxyl-terminal hydrolase 17

Names: deubiquitinating enzyme 17-like protein 2; deubiquitinating enzyme 3; deubiquitinating protein 3; ubiquitin carboxyl-terminal hydrolase 17-like protein 2; ubiquitin specific peptidase 17-like 2; ubiquitin thioesterase 17-like protein 2; ubiquitin thiolesterase 17-like protein 2; ubiquitin-specific-processing protease 17-like protein 2

NP_958804.2

EC 3.4.19.12

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.