ELAC2 (elaC homolog 2 (E. coli))
2008-02-01 Yang Chen , Sean Tavtigian , Donna Shattuck AffiliationMyriad Genetics, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA
Identity
HGNC
LOCATION
17p12
LOCUSID
ALIAS
COXPD17,ELC2,HPC2
FUSION GENES
DNA/RNA
Note
Ubiquitously expressed in a variety of tissues, tumors and developmental stages.
Description
The genomic size of ELAC2 gene is about 25.6 kb representing a mRNA of 2966 bp with 26 exons.
Transcription
There is no evidence of alternative splicing of the transcript.
Pseudogene
No known pseudogenes.
Proteins
Description
ELAC2 gene encodes a protein of 826 amino acids. Orthologs are found in Eukaryotes including M. musculus, R. norvegicus, C. elegans, D. melanogaster, S. cerevisiae, S. pombe and A. thaliana.
Expression
Not determined.
Localisation
Not determined. But is implicated in nucleus upon overexpression in cell lines. Yeast ortholog (TRZ1p) is detected in cytosol, nucleus and mitochondria via large-scale analysis with GFP tagged gene product.
Function
ELAC2 has tRNA processing activity as detected by in vitro biochemistry assays. The N-terminus of ELAC2 is required for the Rnase 65 activity. The C-terminus (481-826 aa) of ELAC2, which is homologous to ELAC1, possesses tRNA 3 processing endoribonuclease acitivity (tRNaseZ). Overexpressed ELAC2 binds gamma-tubulin complex and is involved in cell cycle regulation. ELAC2 has also been shown to potentiate TGF-beta-induced growth arrest of prostate cells via over-expression upon transfection and down-regulation via siRNA.
Mutations
Germinal
One pedigree-specific insertion/frameshift, 1641insG, resulting in frameshift after L547, and leading to termination after the miscoding of 67 residues. Four missense variants, S217L, A541T, E622V and R781H.
Somatic
Not determined.
Implicated in
Entity name
Prostate Cancer
Note
Disease
Hereditary prostate cancer and sporadic prostate cancer.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15892892 | 2005 | Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z. | Chen Y et al |
| 12522685 | 2002 | Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series. | Fujiwara H et al |
| 14690591 | 2003 | Assigning function to yeast proteins by integration of technologies. | Hazbun TR et al |
| 14562095 | 2003 | Global analysis of protein localization in budding yeast. | Huh WK et al |
| 12569551 | 2003 | The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex. | Korver W et al |
| 16636667 | 2006 | ELAC2, a putative prostate cancer susceptibility gene product, potentiates TGF-beta/Smad-induced growth arrest of prostate cells. | Noda D et al |
| 11507049 | 2001 | ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer. | Rökman A et al |
| 11431329 | 2001 | Polymorphisms in the prostate cancer susceptibility gene HPC2/ELAC2 in multiplex families and healthy controls. | Suarez BK et al |
| 15317868 | 2004 | The N-terminal half-domain of the long form of tRNase Z is required for the RNase 65 activity. | Takaku H et al |
| 11175785 | 2001 | A candidate prostate cancer susceptibility gene at chromosome 17p. | Tavtigian SV et al |
| 11522646 | 2001 | Role of HPC2/ELAC2 in hereditary prostate cancer. | Wang L et al |
Other Information
Locus ID:
NCBI: 60528
MIM: 605367
HGNC: 14198
Ensembl: ENSG00000006744
Variants:
dbSNP: 60528
ClinVar: 60528
TCGA: ENSG00000006744
COSMIC: ELAC2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37353407 | 2023 | ELAC2 is a functional prostate cancer risk allele. | 0 |
| 37353407 | 2023 | ELAC2 is a functional prostate cancer risk allele. | 0 |
| 32592348 | 2020 | A Study of Ser217Leu and Ala541Thr Polymorphism in the Men Afflicted with Prostate Cancer and in the Men being Suspicious of Prostate Cancer. | 2 |
| 32592348 | 2020 | A Study of Ser217Leu and Ala541Thr Polymorphism in the Men Afflicted with Prostate Cancer and in the Men being Suspicious of Prostate Cancer. | 2 |
| 31045291 | 2019 | Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. | 23 |
| 31045291 | 2019 | Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. | 23 |
| 28441660 | 2017 | The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation. | 17 |
| 28441660 | 2017 | The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation. | 17 |
| 27318894 | 2016 | Association between RNASEL, MSR1, and ELAC2 single nucleotide polymorphisms and gene expression in prostate cancer risk. | 12 |
| 27769300 | 2016 | A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. | 9 |
| 27318894 | 2016 | Association between RNASEL, MSR1, and ELAC2 single nucleotide polymorphisms and gene expression in prostate cancer risk. | 12 |
| 27769300 | 2016 | A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. | 9 |
| 23849775 | 2013 | ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. | 81 |
| 23849775 | 2013 | ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. | 81 |
| 20119870 | 2011 | Polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in a North Indian population. | 3 |
Citation
Yang Chen ; Sean Tavtigian ; Donna Shattuck
ELAC2 (elaC homolog 2 (E. coli))
Atlas Genet Cytogenet Oncol Haematol. 2008-02-01
Online version: http://atlasgeneticsoncology.org/gene/40437/elac2
