1. Gene
  2. ELAC2 - elaC ribonuclease Z 2 Gene

ELAC2 - elaC ribonuclease Z 2 Gene

Homo sapiens

Also known as ELC2; HPC2; COXPD17

Gene ID: 60528 | Gene type: protein coding

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

ELAC2 Protein Structure

Lactamase_B_4

Lactamase_B_4: tRNase Z endonuclease (61 - 120)

Lactamase_B_2

Lactamase_B_2: Beta-lactamase superfamily domain (511 - 725)

  • 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

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