TSEN2

General Information

Full gene name:tRNA splicing endonuclease 2 homolog (S. cerevisiae) Entrez Gene ID:80746 Location:3p25.2 Synonyms:SEN2, PCH2B, SEN2L Type:protein-coding

User SNPs

SNPs given by the user that are near or inside this gene:

SNP	Distance (bp)	Direction
rs1801282	132806	upstream

NCBI Summary

This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]

OMIM

OMIM ID:`OMIM ID 608753 `_

Allelic Variants (Selected Examples)

.0001 PONTOCEREBELLAR HYPOPLASIA, TYPE 2B

In a Pakistani male, the product of a consanguineous union, with pontocerebellar hypoplasia type 2 (PCH2B; 612389) in whom no mutations in TSEN54 (608755) were identified, Budde et al. (2008) identified a homozygous A-to-G transition at nucleotide 926 of the TSEN2 gene, resulting in a tyrosine-to-cysteine substitution at codon 309 (Y309C). Each parent was heterozygous for the mutation, which was not identified in 188 healthy Pakistani controls nor in 92 Dutch, 45 Chinese, or 28 Palestinian controls. The tyrosine at position 309 is strictly conserved (tyrosine or phenylalanine) within eukaryotic organisms.

NCBI Phenotypes

• Gene Reviews
• A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
• OMIM
• Pontocerebellar hypoplasia type 2B
• GTR
• NHGRI GWA Catalog

Gene Ontology

• tRNA-intron endonuclease complex
• nucleic acid binding
• nucleolus
• cytoplasm
• tRNA-intron endonuclease activity
• mRNA processing
• nucleus
• tRNA splicing, via endonucleolytic cleavage and ligation
• centrosome

KEGG Pathways

No pathways found linked to this gene.

GeneRIFs

• Affinity Capture-MS [PMID 20360068]
• Affinity Capture-MS [PMID 15109492]
• Affinity Capture-MS [PMID 15109492]
• Affinity Capture-MS [PMID 15109492]
• Affinity Capture-MS [PMID 15109492]

PubMed Articles

Recent articles:

• Tao S et al. “A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.” Carcinogenesis. 2012 Mar;33(3):598-603. PMID 22219177
• Hutchins JR et al. “Systematic analysis of human protein complexes identifies chromosome segregation proteins.” Science. 2010 Apr 30;328(5978):593-9. PMID 20360068
• Namavar Y et al. “Pontocerebellar Hypoplasia Type 2 and Type 4.” None 1993;. PMID 20301773
• Barbe L et al. “Toward a confocal subcellular atlas of the human proteome.” Mol Cell Proteomics. 2008 Mar;7(3):499-508. PMID 18029348
• Weitzer S et al. “The human RNA kinase hClp1 is active on 3’ transfer RNA exons and short interfering RNAs.” Nature. 2007 May 10;447(7141):222-6. PMID 17495927
• Lamesch P et al. “hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.” Genomics. 2007 Mar;89(3):307-15. PMID 17207965
• Kimura K et al. “Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.” Genome Res. 2006 Jan;16(1):55-65. PMID 16344560
• Ballif BA et al. “Phosphoproteomic analysis of the developing mouse brain.” Mol Cell Proteomics. 2004 Nov;3(11):1093-101. PMID 15345747
• Gerhard DS et al. “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” Genome Res. 2004 Oct;14(10B):2121-7. PMID 15489334
• Brandenberger R et al. “Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.” Nat Biotechnol. 2004 Jun;22(6):707-16. PMID 15146197

Top Pubmed articles linked to gene TSEN2 matching any search term:

• Tao S et al. “A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.” Carcinogenesis. 2012 Mar;33(3):598-603. PMID 22219177