RORB (RAR related orphan receptor B)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6096 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
RAR related orphan receptor B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
RORB |
SynonymsGene synonyms aliases
|
EIG15, NR1F2, ROR-BETA, RORbeta, RZR-BETA, RZRB, bA133M9.1 |
ChromosomeChromosome number
|
9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
9q21.13 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of th |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000785 |
Component |
Chromatin |
ISA |
|
GO:0000978 |
Function |
RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IBA |
21873635 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISA |
|
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISS |
|
GO:0001228 |
Function |
DNA-binding transcription activator activity, RNA polymerase II-specific |
IEA |
|
GO:0003700 |
Function |
DNA-binding transcription factor activity |
ISS |
|
GO:0004879 |
Function |
Nuclear receptor activity |
IBA |
21873635 |
GO:0005515 |
Function |
Protein binding |
IPI |
23555304 |
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
ISS |
|
GO:0005654 |
Component |
Nucleoplasm |
IDA |
27352968 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0006355 |
Process |
Regulation of transcription, DNA-templated |
TAS |
7935491 |
GO:0006357 |
Process |
Regulation of transcription by RNA polymerase II |
IBA |
21873635 |
GO:0006367 |
Process |
Transcription initiation from RNA polymerase II promoter |
TAS |
|
GO:0007186 |
Process |
G protein-coupled receptor signaling pathway |
IEA |
|
GO:0007601 |
Process |
Visual perception |
IEA |
|
GO:0008134 |
Function |
Transcription factor binding |
IEA |
|
GO:0008270 |
Function |
Zinc ion binding |
IEA |
|
GO:0008502 |
Function |
Melatonin receptor activity |
IBA |
21873635 |
GO:0030522 |
Process |
Intracellular receptor signaling pathway |
IEA |
|
GO:0035881 |
Process |
Amacrine cell differentiation |
ISS |
|
GO:0042462 |
Process |
Eye photoreceptor cell development |
ISS |
|
GO:0042752 |
Process |
Regulation of circadian rhythm |
ISS |
|
GO:0045668 |
Process |
Negative regulation of osteoblast differentiation |
ISS |
|
GO:0045892 |
Process |
Negative regulation of transcription, DNA-templated |
ISS |
|
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
ISS |
|
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
ISS |
|
GO:0046548 |
Process |
Retinal rod cell development |
ISS |
|
GO:0046549 |
Process |
Retinal cone cell development |
ISS |
|
GO:0048511 |
Process |
Rhythmic process |
IEA |
|
GO:0060041 |
Process |
Retina development in camera-type eye |
ISS |
|
GO:0071300 |
Process |
Cellular response to retinoic acid |
ISS |
|
GO:1990837 |
Function |
Sequence-specific double-stranded DNA binding |
IDA |
28473536 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q92753 |
Protein name |
Nuclear receptor ROR-beta (Nuclear receptor RZR-beta) (Nuclear receptor subfamily 1 group F member 2) (Retinoid-related orphan receptor-beta) |
Protein function |
Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural li |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00105 |
zf-C4 |
19 → 88 |
Zinc finger, C4 type (two domains) |
Domain |
PF00104 |
Hormone_recep |
259 → 443 |
Ligand-binding domain of nuclear hormone receptor |
Domain |
|
Sequence |
|
Sequence length |
470 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
|
Seizure |
Tonic - clonic seizures |
rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130 |
|
|
|
|
|