1. Gene
  2. RORC - RAR related orphan receptor C Gene

RORC - RAR related orphan receptor C Gene

中文名称:RAR 相关孤儿受体 C

种属: Homo sapiens

同用名: TOR; RORG; RZRG; IMD42; NR1F3; RZR-GAMMA

基因 ID: 6097 | 基因类型: protein coding

关于 RORC

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,806,071-151,831,802 (from NCBI)

This gene has 11 transcripts (splice variants), 383 orthologues, 18 paralogues and is associated with 2 phenotypes. Broad expression in liver (RPKM 16.0), thyroid (RPKM 15.9) and 18 other tissues.

功能概要

该基因编码的蛋白质是一种 DNA 结合转录因子,是核激素受体 NR1 亚家族的成员。这种蛋白质的具体功能尚不清楚;然而,对小鼠中类似基因的研究表明,该基因可能对淋巴器官发生至关重要,并可能在胸腺生成中发挥重要的调节作用。此外,小鼠研究表明,该基因编码的蛋白质可能会抑制 Fas 配体和 IL2 的表达。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RORC 基因产物(4)

mRNA Protein Name
NM_001001523.2 NP_001001523.1 nuclear receptor ROR-gamma isoform b
NM_005060.4 NP_005051.2 nuclear receptor ROR-gamma isoform a
XM_006711484.5 XP_006711547.3 nuclear receptor ROR-gamma isoform X2
XM_047427201.1 XP_047283157.1 nuclear receptor ROR-gamma isoform X1
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 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
20427770 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
20427770 GOA
enables ligand-activated transcription factor activity IDA
IDA: 通过直接分析推断
19965867 GOA
enables oxysterol binding IDA
IDA: 通过直接分析推断
19965867 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18368049 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to sterol IDA
IDA: 通过直接分析推断
19965867 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
20427770 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
19965867 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

RORC 蛋白结构

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (30 - 98)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (315 - 459)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 518 a.a.
蛋白主名 其他名称

nuclear receptor ROR-gamma

nuclear receptor RZR-gamma

nuclear receptor subfamily 1 group F member 3

retinoic acid-binding receptor gamma

retinoid-related orphan receptor gamma

RORC 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra RORC P51449 PSMC5 Homo sapiens P62195
Validated Y2H
32296183
Intra RORC P51449 NCOA1 Homo sapiens Q15788
Alpha-Screen
20203100
Cross RORC P51449 Clock Mus musculus O08785
Anti Tag CoIP
23555304
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Nail Disease

Nail Diseases

Abnormality Of The Nail

Nail Anomaly

Hyper Ige Syndrome

Hyper-Ige Syndrome

Hyper Immunoglobulin E Syndrome

Hies

Hyper-Ige Recurrent Infection Syndrome

Hyperimmunoglobulin E Syndrome

Hyper Ige

Job Syndrome

Hartnup Disease

Chronic Mucocutaneous Candidiasis

Candidiasis, Chronic Mucocutaneous

Cmc

Candidiasis Chronic Mucocutaneous

Immunodeficiency 42

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Rorgamma Receptor Deficiency

IMD42

Autosomal Recessive Msmd Due To Complete Rorgamma Receptor Defiency

Autosomal Recessive Primary Immunodeficiency Due To Rorc Mutation

Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease

Bd

Adamantiades-Behcet Disease

Triple Symptom Complex

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Disease

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

Candidiasis

Systemic Candidiasis

Invasive Candidiasis

Disseminated Candidiasis

Systemic Candida Infections

Candidiasis, Invasive

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
Canis familiaris RORC VGNC VGNC:45697
Rattus norvegicus RORC RGD RGD:1595785
Mus musculus RORC MGD MGI:104856
Bos taurus RORC VGNC VGNC:34090
Macaca mulatta RORC VGNC VGNC:76719
Felis catus RORC VGNC VGNC:64723
Others RORC NCBI