ELAC2 (elaC homolog 2 (E. coli))

2008-02-01 Yang Chen , Sean Tavtigian , Donna Shattuck Affiliation

Myriad Genetics, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA

Identity

HGNC

ELAC2

LOCATION

17p12

LOCUSID

60528

ALIAS

COXPD17,ELC2,HPC2

FUSION GENES

Show Gene Fusions

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

TGF-beta signaling mediated growth arrest via physical interactions with Smad2 / Smad3 and FAST-1, and potentiation of Smad2-driven (ARE)2-Luciferease reporter activity. Also implicated in RNA processing.

Disease

Hereditary prostate cancer and sporadic prostate cancer.

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

Gene ID	Transcript ID	Uniprot
ENSG00000006744	ENST00000338034	Q9BQ52
ENSG00000006744	ENST00000338034	A0A0S2Z5M8
ENSG00000006744	ENST00000395962	G5E9D5
ENSG00000006744	ENST00000426905	Q9BQ52
ENSG00000006744	ENST00000446899	H7C2I4
ENSG00000006744	ENST00000476042	J3QQT1
ENSG00000006744	ENST00000578071	V9GZ72
ENSG00000006744	ENST00000580504	J3QLK4
ENSG00000006744	ENST00000581499	J3QL08
ENSG00000006744	ENST00000583371	J3QRS2
ENSG00000006744	ENST00000584650	E7ES68
ENSG00000006744	ENST00000609101	V9GYS7
ENSG00000006744	ENST00000609757	V9GYU5

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
RNA transport	KEGG	ko03013
RNA transport	KEGG	hsa03013
Gene Expression	REACTOME	R-HSA-74160
tRNA processing	REACTOME	R-HSA-72306
tRNA processing in the nucleus	REACTOME	R-HSA-6784531
tRNA processing in the mitochondrion	REACTOME	R-HSA-6785470
rRNA processing	REACTOME	R-HSA-72312
rRNA processing in the mitochondrion	REACTOME	R-HSA-8868766

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/gene-fusions-explorer/