1. Gene
  2. TECRL - trans-2,3-enoyl-CoA reductase like Gene

TECRL - trans-2,3-enoyl-CoA reductase like Gene

中文名称:反式 2,3-烯酰辅酶 A 还原酶样

种属: Homo sapiens

同用名: TERL; CPVT3; GPSN2L; SRD5A2L2

基因 ID: 253017 | 基因类型: protein coding

关于 TECRL

Cytogenetic location: 4q13.1 Genomic coordinates (GRCh38): 4:64,276,298-64,409,460 (from NCBI)

This gene has 6 transcripts (splice variants), 131 orthologues, 3 paralogues and is associated with 3 phenotypes. Restricted expression toward heart (RPKM 117.5).

功能概要

该基因编码的蛋白质在 N 端区域包含一个泛素样结构域、三个跨膜区段和一个 C 端 3-oxo-5-alpha 类固醇 4-脱氢酶结构域。该蛋白质属于类固醇 5-α 还原酶家族。该基因的突变导致室性心动过速,儿茶酚胺能多态性,3。[RefSeq 提供,2017 年 4 月]

The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3. [provided by RefSeq, Apr 2017]

TECRL 基因产物(2)

mRNA Protein Name
NM_001010874.5 NP_001010874.2 trans-2,3-enoyl-CoA reductase-like isoform 1
NM_001363796.1 NP_001350725.1 trans-2,3-enoyl-CoA reductase-like isoform 2
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
27861123 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

TECRL 蛋白结构

Steroid_dh

Steroid_dh: 3-oxo-5-alpha-steroid 4-dehydrogenase (212 - 363)

  • 0
  • 100
  • 200
  • 300
  • 363 a.a.
蛋白主名 其他名称

trans-2,3-enoyl-CoA reductase-like

glycoprotein, synaptic 2-like

关联疾病

疾病名称 别名
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Catecholaminergic Polymorphic Ventricular Tachycardia 3

CPVT3

Cvpt3

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 3

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Long Qt Syndrome 14

LQT14

Long Qt Syndrome, Type 14

Cardiac Arrest

Cardiopulmonary Arrest

Circulatory Arrest

Heart Arrest

Long Qt Syndrome 15

LQT15

Long Qt Syndrome, Type 15

Andersen Cardiodysrhythmic Periodic Paralysis

Andersen Syndrome

Andersen-Tawil Syndrome

LQT7

Long Qt Syndrome 7

Ats

Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

Long Qt Syndrome Type 7

Andersen Tawil Syndrome

Potassium-Sensitive Cardiodysrhythmic Type

Lqts Type 7

Long Qt Syndrome-7

Long Qt Syndrome 2

LQT2

Long Qt Syndrome, Acquired, Reduced Susceptibility To

Long Qt Syndrome 1/2

Long Qt Syndrome 2/3

Long Qt Syndrome 2/5

Long Qt Syndrome 2, Acquired, Susceptibility To

Long Qt Syndrome, Acquired, Reduced

Long Qt Syndrome Type 2

Long Qt Syndrome 2/9

Lqt1/2

Lqt2/3

Lqt2/5

Lqt2/9

Susceptibility To Acquired Long Qt Syndrome 2

Long Qt Syndrome-2

Qt Syndrome, Long, Type 2

Long Qt Syndrome 1-2

Long Qt Syndrome 2-3

Long Qt Syndrome 2-5

Long Qt Syndrome 9

Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta TECRL VGNC VGNC:79663
Rattus norvegicus TECRL RGD RGD:1304608
Mus musculus TECRL MGD MGI:2444966
Canis familiaris TECRL VGNC VGNC:47235
Bos taurus TECRL VGNC VGNC:35731
Felis catus TECRL VGNC VGNC:66060