TUSC2 tumor suppressor 2, mitochondrial calcium regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: TUSC2provided by HGNC
Official Full Name: tumor suppressor 2, mitochondrial calcium regulatorprovided by HGNC
Primary source: HGNC:HGNC:17034
See related: Ensembl:ENSG00000114383 MIM:607052; AllianceGenome:HGNC:17034
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: PAP; FUS1; PDAP2; C3orf11
Summary: Predicted to be involved in inflammatory response and regulation of mitochondrial membrane potential. Predicted to act upstream of or within several processes, including natural killer cell differentiation; neutrophil-mediated killing of gram-negative bacterium; and regulation of cytokine production. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 15.7), kidney (RPKM 12.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (50324909..50328223, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (50354633..50357947, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (50362340..50365654, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

NEDD4 degrades TUSC2 to promote glioblastoma progression.
Title: NEDD4 degrades TUSC2 to promote glioblastoma progression.
The TUSC2 Tumour Suppressor Inhibits the Malignant Phenotype of Human Thyroid Cancer Cells via SMAC/DIABLO Protein.
Title: The TUSC2 Tumour Suppressor Inhibits the Malignant Phenotype of Human Thyroid Cancer Cells via SMAC/DIABLO Protein.
MicroRNA-138 is a Prognostic Biomarker for Triple-Negative Breast Cancer and Promotes Tumorigenesis via TUSC2 repression.
Title: MicroRNA-138 is a Prognostic Biomarker for Triple-Negative Breast Cancer and Promotes Tumorigenesis via TUSC2 repression.
Low TUSC2 expression is associated with bladder cancer.
Title: MicroRNA‑663b downregulation inhibits proliferation and induces apoptosis in bladder cancer cells by targeting TUSC2.
TUSC2P can suppresses the tumor function of esophageal squamous cell carcinoma by regulating TUSC2 expression and may also serve as a prognostic factor for esophageal squamous cell carcinoma patients.
Title: TUSC2P suppresses the tumor function of esophageal squamous cell carcinoma by regulating TUSC2 expression and correlates with disease prognosis.
these findings show that the combination of TUSC2-erlotinib induces additional novel vulnerabilities that can be targeted with Auranofin.
Title: TUSC2(FUS1)-erlotinib Induced Vulnerabilities in Epidermal Growth Factor Receptor(EGFR) Wildtype Non-small Cell Lung Cancer(NSCLC) Targeted by the Repurposed Drug Auranofin.
Data show that TUSC2 is a direct target of miR-584, which is transcriptionally regulated by TWIST1.
Title: TWIST1/miR-584/TUSC2 pathway induces resistance to apoptosis in thyroid cancer cells.
FOXP1, TP53INP1, TNFAIP3, and TUSC2 were identified as miR-19a targets.
Title: Uncovering Direct Targets of MiR-19a Involved in Lung Cancer Progression.
The therapeutic activity of TUSC2 could extend the use of erlotinib to lung cancer patients with wildtype EGFR.
Title: Exogenous Restoration of TUSC2 Expression Induces Responsiveness to Erlotinib in Wildtype Epidermal Growth Factor Receptor (EGFR) Lung Cancer Cells through Context Specific Pathways Resulting in Enhanced Therapeutic Efficacy.
TUSC2P and TUSC2 3'-UTR expression inhibits cell proliferation, survival, migration, invasion and colony formation, and increases tumor cell death. TUSC2P and TUSC2 3'-UTR bind to miRNAs and arrest their functions, leading to increased TUSC2 translation.
Title: The pseudogene TUSC2P promotes TUSC2 function by binding multiple microRNAs.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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 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

STS-N24898 (e-PCR)
- UniSTS:66881

D3S2832E (e-PCR)
- UniSTS:150865

Cda0la01 (e-PCR)
- UniSTS:27049

RH91127 (e-PCR)
- UniSTS:86003

D3S3118 (e-PCR)
- UniSTS:47615

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell maturation	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in natural killer cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-17 production	IEA Inferred from Electronic Annotation more info
involved_in neutrophil-mediated killing of gram-negative bacterium	IEA Inferred from Electronic Annotation more info
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-10 production	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitochondrial membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: tumor suppressor candidate 2

Names: PDGFA-associated protein 2; fus-1 protein; fusion 1 protein

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.