1. Gene
  2. NR1D2 - nuclear receptor subfamily 1 group D member 2 Gene

NR1D2 - nuclear receptor subfamily 1 group D member 2 Gene

中文名称:核受体亚家族 1 D 组成员 2

种属: Homo sapiens

同用名: RVR; BD73; EAR-1R; REVERBB; REVERBbeta

基因 ID: 9975 | 基因类型: protein coding

关于 NR1D2

Cytogenetic location: 3p24.2 Genomic coordinates (GRCh38): 3:23,945,286-23,980,617 (from NCBI)

This gene has 5 transcripts (splice variants), 474 orthologues and 18 paralogues. Ubiquitous expression in thyroid (RPKM 35.4), ovary (RPKM 18.9) and 25 other tissues.

功能概要

该基因编码核激素受体家族的一个成员,特别是受体的 NR1 亚家族。编码的蛋白质起转录抑制因子的作用,可能在昼夜节律以及碳水化合物和脂质代谢中发挥作用。已经描述了选择性剪接的转录物变体。[RefSeq 提供,2009 年 2 月]

This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

NR1D2 基因产物(2)

mRNA Protein Name
NM_001145425.2 NP_001138897.1 nuclear receptor subfamily 1 group D member 2 isoform 2
NM_005126.5 NP_005117.3 nuclear receptor subfamily 1 group D member 2 isoform 1

NR1D2 蛋白结构

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (102 - 171)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (394 - 575)

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  • 579 a.a.
蛋白主名 其他名称

nuclear receptor subfamily 1 group D member 2

V-erbA-related protein 1-related

关联疾病

疾病名称 别名
Atrioventricular Septal Defect

AVSD

Atrioventricular Canal Defect

Avcd

Endocardial Cushion Defect

Ecd

Avc Defect

Atrioventricular Septal Defect, Susceptibility To, 1

Atrioventricular Septal Defect 1

Endocardial Cushion Defects

Septal Defect, Atrioventricular

Atrioventricular Defect With Atrial Shunting Only

Incomplete Atrioventricular Septal Defect With Isolated Atrial Component

Incomplete Atrioventricular Canal Defect With Isolated Atrial Component

Primum Atrial Septal Defect

Partial Atrioventricular Canal Defect With Isolated Atrial Component

Partial Atrioventricular Septal Defect, Ostium Primum Type

Ostium Primum Atrial Septal Defect

Partial Atrioventricular Canal Defect

Partial Atrioventricular Septal Defect

Atrial Septum Primum Defect

Atrioventricular Canal Defect With Isolated Ventricular Component

Atrioventricular Canal Defect With Isolated Ventricular Communication

Atrioventricular Septal Defect With Isolated Ventricular Component

Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting

Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve

Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves

Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect

Intermediate Atrioventricular Canal Defect

Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices

Intermediate Atrioventricular Septal Defect

Transitional Atrioventricular Canal Defect

Transitional Atrioventricular Septal Defect

Complete Atrioventricular Canal With Atrial And Ventricular Components

Complete Atrioventricular Canal Defect

Complete Atrioventricular Septal Defect

Delayed Sleep Phase Disorder

Delayed Sleep Phase Syndrome

Delayed Sleep Phase Syndrome, Susceptibility To

DSPD

Delayed Sleep Phase Disorder, Susceptibility To

DSPS

Sleep Phase, Delayed, Disorder

Sleep Phase Syndrome, Delayed, Susceptibility To

Advanced Sleep Phase Syndrome

Fasps

Familial Advanced Sleep-Phase Syndrome

Advanced Sleep Phase Syndrome, Familial

Familial Advanced Sleep Phase Syndrome

Sleep Phase Syndrome, Advanced, Familial

Advanced Sleep-Phase Syndrome, Familial

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
Mus musculus NR1D2 MGD MGI:2449205
Canis familiaris NR1D2 VGNC VGNC:43941
Felis catus NR1D2 VGNC VGNC:68543
Macaca mulatta NR1D2 VGNC VGNC:75503
Bos taurus NR1D2 VGNC VGNC:32229
Rattus norvegicus NR1D2 RGD RGD:628828