1. Gene
  2. NR2C2 - nuclear receptor subfamily 2 group C member 2 Gene

NR2C2 - nuclear receptor subfamily 2 group C member 2 Gene

中文名称:核受体亚家族 2 C 组成员 2

种属: Homo sapiens

同用名: TR4; TAK1

基因 ID: 7182 | 基因类型: protein coding

关于 NR2C2

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:14,947,583-15,049,273 (from NCBI)

This gene has 13 transcripts (splice variants), 224 orthologues and 11 paralogues. Ubiquitous expression in brain (RPKM 10.5), thyroid (RPKM 9.7) and 25 other tissues.

功能概要

该基因编码一种属于核激素受体家族的蛋白质。该家族的成员充当配体激活的转录因子,并在许多生物过程中发挥作用,例如发育、细胞分化和体内平衡。激活的受体/配体复合物易位到细胞核,在那里它与靶基因的激素反应元件结合。该基因编码的蛋白质在保护细胞免受氧化应激和电离辐射引起的损伤方面发挥作用。小鼠中缺乏类似基因会导致生长迟缓、严重的脊柱弯曲、生育能力低下、过早衰老和前列腺上皮内瘤变 (PIN) 的发展。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2014 年 4 月]

This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]

NR2C2 基因产物(2)

mRNA Protein Name
NM_001291694.2 NP_001278623.1 nuclear receptor subfamily 2 group C member 2 isoform 2
NM_003298.5 NP_003289.2 nuclear receptor subfamily 2 group C member 2 isoform 1

NR2C2 蛋白结构

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (116 - 183)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (374 - 567)

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  • 596 a.a.
蛋白主名 其他名称

nuclear receptor subfamily 2 group C member 2

Nuclear hormone receptor TR4

关联疾病

疾病名称 别名
Aging
Premature Aging

Syndrome With Premature-Aging

Branchiootorenal Syndrome 2

BOR2

Bor Syndrome 2

Branchiootorenal Dysplasia 2

Branchio-Oto-Renal Dysplasia 2

Branchio-Oto-Renal Syndrome Type 2

Branchiootorenal Syndrome, Type 2

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

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
Rattus norvegicus NR2C2 RGD RGD:3201
Felis catus NR2C2 VGNC VGNC:68549
Macaca mulatta NR2C2 VGNC VGNC:75509
Canis familiaris NR2C2 VGNC VGNC:43947
Mus musculus NR2C2 MGD MGI:1352466
Bos taurus NR2C2 VGNC VGNC:32236