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

ELAC2 - elaC ribonuclease Z 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：elaC 核糖核酸酶 Z 2

种属: Homo sapiens

同用名: ELC2; HPC2; COXPD17

基因 ID: 60528 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质有一个 C 端结构域，tRNA 3′处理内切核糖核酸酶活性，催化从前体 tRNA 中去除 3' 尾巴。该蛋白还与激活的 Smad 家族成员 2 (SMAD2) 及其核伙伴叉头盒 H1 (也称为 FAST-1) 相互作用，表达减少可以抑制转化生长因子-β 诱导的生长停滞。该基因的突变会增加患前列腺癌的风险。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables tRNA-specific ribonuclease activity EXP
EXP: 通过实验结果推断
12711671 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial tRNA 3'-end processing IMP
IMP: 通过突变表型推断
21593607 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial nucleoid IDA
IDA: 通过直接分析推断
24703694 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
21593607 GOA
located in nucleus IDA
IDA: 通过直接分析推断
21593607 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ELAC2 蛋白结构

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.
蛋白主名 其他名称

zinc phosphodiesterase ELAC protein 2

RNase Z 2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04291 ELAC2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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