RORC (RAR related orphan receptor C)
- symbol:
- RORC
- locus group:
- protein-coding gene
- location:
- 1q21
- gene_family:
- Nuclear hormone receptors
- alias symbol:
- RZRG|RORG|NR1F3|TOR
- alias name:
- None
- entrez id:
- 6097
- ensembl gene id:
- ENSG00000143365
- ucsc gene id:
- uc001ezh.4
- refseq accession:
- NM_001001523
- hgnc_id:
- HGNC:10260
- approved reserved:
- 1995-04-13
RORC（RAR相关孤儿受体C，RAR-related orphan receptor C）是核受体超家族中ROR基因家族的成员之一，该家族还包括RORA和RORB。ROR基因家族的共性是编码配体依赖性转录因子，通过结合DNA上的特定序列（ROR反应元件，RORE）调控靶基因表达，参与昼夜节律、免疫调节、代谢和发育等过程。RORC基因编码两种异构体：RORγ和RORγt，其中RORγt是胸腺细胞和某些免疫细胞（如Th17细胞、ILC3细胞）的特异性亚型，对免疫系统功能至关重要。RORC的生物学功能包括促进Th17细胞分化（分泌IL-17等促炎细胞因子）、调节淋巴器官发育和维持肠道免疫稳态。其主要作用位点为免疫细胞（如T细胞、固有淋巴细胞）的细胞核，通过调控IL17A、IL23R等基因表达发挥作用。突变或功能缺失可能导致免疫缺陷，如RORγt缺失的小鼠缺乏淋巴结并出现Th17细胞减少，而人类RORC突变与联合免疫缺陷病相关。该基因过表达可能引发过度炎症反应，与自身免疫疾病（如多发性硬化、银屑病、类风湿关节炎）密切相关；反之，表达降低可能导致抗感染能力下降或免疫监视功能减弱。RORC还参与脂质代谢和肿瘤微环境调控，其抑制剂（如反向激动剂）正在研发用于治疗自身免疫病。ROR家族成员的共性包括依赖胆固醇代谢物作为潜在配体，以及通过保守的DNA结合域（DBD）和配体结合域（LBD）发挥作用。若RORC表达异常，可能间接影响其他核受体（如REV-ERB）的节律调控网络或炎症相关通路（如NF-κB）。
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]
Gene Ontology
Subcellular localization of RORC (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for RORC:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 4710 Circadian rhythm [PATH:hsa04710] |
| 5321 Inflammatiory bowel disease (IBD) [PATH:hsa05321] |
| Name |
|---|
| Gene Expression |
| Generic Transcription Pathway |
| Nuclear Receptor transcription pathway |
| Disease | Score | NofPmids | NofSnps | Source |
| Inflammatory Bowel Diseases | 0.120271442 | 2 | 1 | BeFree_GWASCAT |
| Inflammation | 0.12 | 1 | 0 | CTD_human |
| Depressive Symptoms | 0.12 | 1 | 1 | GWASCAT |
| Lymphedema | 0.002638474 | 2 | 0 | BeFree_GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Obesity | 0.000814326 | 3 | 0 | BeFree |
| Necrotizing Enterocolitis | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
| Autoimmune Diseases | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
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