RORB

Protein identityUniProt · HPA

UniProt accession

Q92753

Gene

RORB

Ensembl

ENSG00000198963

Chromosome

9

Canonical length

470 aa

Protein class

Disease related genes, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI 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 those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014]

Canonical amino-acid sequenceUniProt

470 residues, UniProt reviewed canonical sequence.

>Q92753|RORB
     1  MCENQLKTKA DATAQIEVIP CKICGDKSSG IHYGVITCEG CKGFFRRSQQ NNASYSCPRQ
    61  RNCLIDRTNR NRCQHCRLQK CLALGMSRDA VKFGRMSKKQ RDSLYAEVQK HQQRLQEQRQ
   121  QQSGEAEALA RVYSSSISNG LSNLNNETSG TYANGHVIDL PKSEGYYNVD SGQPSPDQSG
   181  LDMTGIKQIK QEPIYDLTSV PNLFTYSSFN NGQLAPGITM TEIDRIAQNI IKSHLETCQY
   241  TMEELHQLAW QTHTYEEIKA YQSKSREALW QQCAIQITHA IQYVVEFAKR ITGFMELCQN
   301  DQILLLKSGC LEVVLVRMCR AFNPLNNTVL FEGKYGGMQM FKALGSDDLV NEAFDFAKNL
   361  CSLQLTEEEI ALFSSAVLIS PDRAWLIEPR KVQKLQEKIY FALQHVIQKN HLDDETLAKL
   421  IAKIPTITAV CNLHGEKLQV FKQSHPEIVN TLFPPLYKEL FNPDCATGCK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RORB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

52 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RORB.

Disease | AllUniProt

Conditions RORB is implicated in, by any mechanism.

• Epilepsy, idiopathic generalized 15 (EIG15) MIM:618357

Disease | GeneticClinVar

61 pathogenic / likely-pathogenic of 493 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Epilepsy, idiopathic generalized, susceptibility to, 15
• Inborn genetic diseases
• Epilepsy
• Neurodevelopmental delay

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.11

gnomAD pLI

1

gnomAD missense Z

3.08

DepMap mean gene effect

0.12

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amacrine cell differentiation
• cellular response to retinoic acid
• eye photoreceptor cell development
• negative regulation of DNA-templated transcription
• negative regulation of osteoblast differentiation
• positive regulation of DNA-templated transcription
• positive regulation of transcription by RNA polymerase II
• regulation of circadian rhythm
• regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II
• retina development in camera-type eye
• retinal cone cell development
• retinal rod cell development
• rhythmic process
• visual perception

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• melatonin receptor activity
• nuclear receptor activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• zinc ion binding

Cellular components

• chromatin
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Nuclear hormone receptor, ligand-binding domain
• Zinc finger, nuclear hormone receptor-type
• Nuclear hormone receptor
• Nuclear receptor ROR
• Zinc finger, NHR/GATA-type
• Nuclear hormone receptor-like domain superfamily
• Retinoid-related orphan receptors, DNA-binding domain
• Ligand-binding domain of nuclear hormone receptor
• Double treble clef zinc finger, C4 type

KeywordsUniProt

• Activator
• Alternative promoter usage
• Biological rhythms
• Developmental protein
• DNA-binding
• Epilepsy
• Metal-binding
• Nucleus
• Receptor
• Sensory transduction
• Transcription
• Transcription regulation
• Vision
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of RORB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CRX