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  2. NR2C1 - nuclear receptor subfamily 2 group C member 1 Gene

NR2C1 - nuclear receptor subfamily 2 group C member 1 Gene

中文名称:核受体亚家族 2 C 组成员 1

种属: Homo sapiens

同用名: TR2

基因 ID: 7181 | 基因类型: protein coding

关于 NR2C1

Cytogenetic location: 12q22 Genomic coordinates (GRCh38): 12:95,020,229-95,073,618 (from NCBI)

This gene has 19 transcripts (splice variants), 233 orthologues and 11 paralogues. Ubiquitous expression in testis (RPKM 8.3), endometrium (RPKM 5.9) and 25 other tissues.

功能概要

该基因编码的核激素受体具有高度保守的 DNA 结合域 (DBD) 、可变铰链区和羧基末端配体结合域 (LBD) ,这是类固醇/甲状腺激素受体超家族所有成员的典型特征。该蛋白还属于配体诱导转录因子大家族,通过结合靶基因启动子内的特定 DNA 序列来调节基因表达。已经描述了多个选择性剪接的转录本变体,但尚未确定其中一些变体的全长性质。[RefSeq 提供,2008 年 7 月]

This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/Thyroid Hormone Receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

NR2C1 基因产物(3)

mRNA Protein Name
NM_001032287.3 NP_001027458.1 nuclear receptor subfamily 2 group C member 1 isoform b
NM_001127362.2 NP_001120834.1 nuclear receptor subfamily 2 group C member 1 isoform c
NM_003297.4 NP_003288.2 nuclear receptor subfamily 2 group C member 1 isoform a

NR2C1 蛋白结构

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (112 - 180)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (381 - 573)

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  • 603 a.a.
蛋白主名 其他名称

nuclear receptor subfamily 2 group C member 1

TR2 nuclear hormone receptor

关联疾病

疾病名称 别名
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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 NR2C1 VGNC VGNC:75508
Rattus norvegicus NR2C1 RGD RGD:3200
Felis catus NR2C1 VGNC VGNC:68548
Mus musculus NR2C1 MGD MGI:1352465
Canis familiaris NR2C1 VGNC VGNC:43946
Bos taurus NR2C1 VGNC VGNC:32235