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ELAC2 - elaC ribonuclease Z 2 Gene

Also Known as ELC2; HPC2; COXPD17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 60528

About ELAC2

Cytogenetic location: 17p12 Genomic coordinates (GRCh38): 17:12,991,612-13,018,027 (from NCBI)

This gene has 21 transcripts (splice variants), 196 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in colon (RPKM 15.0), testis (RPKM 14.9) and 25 other tissues.

Summary

The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad Family member 2 (SMAD2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate Cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

ELAC2 Products (3)

mRNA	Protein	Name
NM_001165962.2	NP_001159434.1	zinc phosphodiesterase ELAC protein 2 isoform 3
NM_018127.7	NP_060597.4	zinc phosphodiesterase ELAC protein 2 isoform 1
NM_173717.2	NP_776065.1	zinc phosphodiesterase ELAC protein 2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables tRNA-specific ribonuclease activity	EXP EXP: Inferred from Experiment	12711671	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial tRNA 3'-end processing	IMP IMP: Inferred from mutant phenotype	21593607	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	24703694	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	21593607	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21593607	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ELAC2 Protein Structure

Lactamase_B_4

Lactamase_B_2

0
200
400
600
826 a.a.

Protein Preferred Names	Protein Names
zinc phosphodiesterase ELAC protein 2	RNase Z 2

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 17	COXPD17 Combined Oxidative Phosphorylation Defect Type 17 Combined Oxidative Phosphorylation Deficiency, Type 17
Prostate Cancer, Hereditary, 2	HPC2 Prostate Cancer, Hereditary, 2, Susceptibility To Familial Prostate Cancer 2 Cancer, Prostate, Hereditary, Type 2
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Cardiomyopathy, Infantile Hypertrophic	Infantile Hypertrophic Cardiomyopathy CMHI
Combined Oxidative Phosphorylation Deficiency
Small Cell Carcinoma	Small Cell Carcinoma, Intermediate Cell Intermediate Cell Small Cell Carcinoma Small Cell Carcinoma - Intermediate Cell Small Cell Carcinoma Of Lung Carcinoma, Small Cell
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Primary Cutaneous Amyloidosis	Plca Primary Localized Cutaneous Amyloidosis Familial Primary Localized Cutaneous Amyloidosis Amyloidosis Ix Lichen Amyloidosis Familial Amyloidosis, Primary Cutaneous Pca Amyloidosis 9 Amyloidosis Familial Cutaneous Lichen Fplca Familial Lichen Amyloidosis
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04291	ELAC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ELAC2	VGNC	VGNC:40296
Macaca mulatta	ELAC2	VGNC	VGNC:72042
Felis catus	ELAC2	VGNC	VGNC:61801
Mus musculus	ELAC2	MGD	MGI:1890496
Bos taurus	ELAC2	VGNC	VGNC:28422
Rattus norvegicus	ELAC2	RGD	RGD:628882