TREX2 (three prime repair exonuclease 2)

Gene

• Entrez ID: 11219
• Gene name: Three prime repair exonuclease 2
• Gene symbol: TREX2
• Synonyms (NCBI Gene): -
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes a nuclear protein with 3` to 5` exonuclease activity. The encoded protein participates in double-stranded DNA break repair, and may interact with DNA polymerase delta. [provided by RefSeq, Nov 2012]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022944	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	11279105
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	EXP	15661738
GO:0003677	Function	DNA binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0006259	Process	DNA metabolic process	IDA	11279105
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	10391904
GO:0006308	Process	DNA catabolic process	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0008296	Function	3'-5'-DNA exonuclease activity	IBA
GO:0008296	Function	3'-5'-DNA exonuclease activity	IDA	11279105
GO:0008296	Function	3'-5'-DNA exonuclease activity	IEA
GO:0008311	Function	Double-stranded DNA 3'-5' DNA exonuclease activity	IEA
GO:0008408	Function	3'-5' exonuclease activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	11279105
GO:0046872	Function	Metal ion binding	IEA
GO:0060090	Function	Molecular adaptor activity	EXP	15661738

Other IDs

• MIM: 300370
• HGNC: 12270
• e!Ensembl: ENSG00000183479

Protein

• UniProt ID: Q9BQ50
• Protein name: Three prime repair exonuclease 2 (EC 3.1.11.2) (3'-5' exonuclease TREX2)
• Protein function: Exonuclease with a preference for double-stranded DNA with mismatched 3' termini. May play a role in DNA repair.
• PDB: 1Y97
• Tissue specificity: TISSUE SPECIFICITY: Detected in heart, breast, prostate, skeletal muscle, testis, uterus, bone marrow, colon, small intestine, stomach and thymus. {ECO:0000269|PubMed:11278605}.
• Sequence:

  MSEAPRAETFVFLDLEATGLPSVEPEIAELSLFAVHRSSLENPEHDESGALVLPRVLDKL
  TLCMCPERPFTAKASEITGLSSEGLARCRKAGFDGAVVRTLQAFLSRQAGPICLVAHNGF
  DYDFPLLCAELRRLGARLPRDTVCLDTLPALRGLDRAHSHGTRARGRQGYSLGSLFHRYF
  RAEPSAAHSAEGDVHTLLLIFLHRAAELLAWADEQARGWAHIEPMYLPPDDPSLEA

• Sequence length: 236

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of neuronal migration	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinogenesis	Carcinogenesis	Pubtator	37586363	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	31053176		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31053176		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35484177	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	31222049	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31053176	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18092167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	31053176		★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	BEFREE	27365293		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15581481		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	27365293, 27884288, 30357414		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26090614		★☆☆☆☆ Found in Text Mining only