| Tbio | Photoreceptor-specific nuclear receptor |
Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression.
This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Enhanced S-cone syndrome | 17 | 0.0 | 0.0 |
| Retinitis Pigmentosa 37 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 5.8e-05 |
| psoriasis | 6694 | 1.4e-04 |
| group 3 medulloblastoma | 4104 | 2.8e-02 |
| Disease | Target Count |
|---|---|
| Retinitis Pigmentosa | 226 |
| Disease | log2 FC | p |
|---|---|---|
| group 3 medulloblastoma | 1.400 | 2.8e-02 |
| osteosarcoma | -1.558 | 5.8e-05 |
| psoriasis | -1.200 | 1.4e-04 |
METRPTALMSSTVAAAAPAAGAASRKESPGRWGLGEDPTGVSPSLQCRVCGDSSSGKHYGIYACNGCSGF 1 - 70 FKRSVRRRLIYRCQVGAGMCPVDKAHRNQCQACRLKKCLQAGMNQDAVQNERQPRSTAQVHLDSMESNTE 71 - 140 SRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITAETCAKLEPEDADENIDVTSNDPEFPSSPYS 141 - 210 SSSPCGLDSIHETSARLLFMAVKWAKNLPVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAP 211 - 280 PEASAAGGAQGRLTLASMETRVLQETISRFRALAVDPTEFACMKALVLFKPETRGLKDPEHVEALQDQSQ 281 - 350 VMLSQHSKAHHPSQPVRFGKLLLLLPSLRFITAERIELLFFRKTIGNTPMEKLLCDMFKN 351 - 410 //
