Entrez Gene ID | 6095 |
---|---|
Official Gene Symbol | RORA (GeneCards) |
Full name | RAR related orphan receptor A |
Location | 15q22.2 |
Other ids | Vega : OTTHUMG00000132769 MIM : 600825 HGNC : HGNC:10258 Ensembl : ENSG00000069667 |
Other names | ROR1, ROR2, ROR3, RZRA, NR1F1, RZR-ALPHA |
Summary | The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014] |
Found 19 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1528 | 6095 | RORA | 15 | 60789727 | 60789727 | Multiple Sclerosis | sequencing |
18756 | 6095 | RORA | 15 | 61199596 | 61199596 | Asymptomatic | sequencing HiSeq X Ten |
18830 | 6095 | RORA | 15 | 61234377 | 61234377 | Asymptomatic | sequencing HiSeq X Ten |
18844 | 6095 | RORA | 15 | 61462144 | 61462144 | Asymptomatic | sequencing HiSeq X Ten |
18850 | 6095 | RORA | 15 | 61963327 | 61963327 | Asymptomatic | sequencing HiSeq X Ten |
18914 | 6095 | RORA | 15 | 61274856 | 61274856 | Asymptomatic | sequencing HiSeq X Ten |
18938 | 6095 | RORA | 15 | 61279639 | 61279639 | Asymptomatic | sequencing HiSeq X Ten |
18966 | 6095 | RORA | 15 | 61432101 | 61432101 | Asymptomatic | sequencing HiSeq X Ten |
18967 | 6095 | RORA | 15 | 61517128 | 61517128 | Asymptomatic | sequencing HiSeq X Ten |
19000 | 6095 | RORA | 15 | 62086698 | 62086698 | Asymptomatic | sequencing HiSeq X Ten |
19042 | 6095 | RORA | 15 | 61197177 | 61197177 | Asymptomatic | sequencing HiSeq X Ten |
19047 | 6095 | RORA | 15 | 61852784 | 61852784 | Asymptomatic | sequencing HiSeq X Ten |
19083 | 6095 | RORA | 15 | 61031179 | 61031179 | Asymptomatic | sequencing HiSeq X Ten |
19149 | 6095 | RORA | 15 | 62061224 | 62061224 | Asymptomatic | sequencing HiSeq X Ten |
19248 | 6095 | RORA | 15 | 61225031 | 61225031 | Cockayne syndrome | sequencing HiSeq X Ten |
19295 | 6095 | RORA | 15 | 61785346 | 61785346 | Xeroderma Pigmentosum | sequencing HiSeq X Ten |
28068 | 6095 | RORA | 15 | 61833805 | 61833805 | Asymptomatic | sequencing HiSeq X Ten Single cell Sequencing Cell cloning |
28087 | 6095 | RORA | 15 | 61823749 | 61823749 | Asymptomatic | sequencing HiSeq X Ten Single cell Sequencing Cell cloning |
28093 | 6095 | RORA | 15 | 61030746 | 61030746 | Asymptomatic | sequencing HiSeq X Ten Single cell Sequencing Cell cloning |