NR1D2
Nuclear receptor subfamily 1 group D member 2
Also known as: BD73, EAR-1r, Hs.37288, HZF2, NR1D2_HUMAN, REVERBB, REVERBbeta, RVR
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14995
- Gene
- NR1D2
- Ensembl
- ENSG00000174738
- Chromosome
- 3
- Canonical length
- 579 aa
- Protein class
- Nuclear receptors, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Canonical amino-acid sequenceUniProt
579 residues, UniProt reviewed canonical sequence.
>Q14995|NR1D2
1 MEVNAGGVIA YISSSSSASS PASCHSEGSE NSFQSSSSSV PSSPNSSNSD TNGNPKNGDL
61 ANIEGILKND RIDCSMKTSK SSAPGMTKSH SGVTKFSGMV LLCKVCGDVA SGFHYGVHAC
121 EGCKGFFRRS IQQNIQYKKC LKNENCSIMR MNRNRCQQCR FKKCLSVGMS RDAVRFGRIP
181 KREKQRMLIE MQSAMKTMMN SQFSGHLQND TLVEHHEQTA LPAQEQLRPK PQLEQENIKS
241 SSPPSSDFAK EEVIGMVTRA HKDTFMYNQE QQENSAESMQ PQRGERIPKN MEQYNLNHDH
301 CGNGLSSHFP CSESQQHLNG QFKGRNIMHY PNGHAICIAN GHCMNFSNAY TQRVCDRVPI
361 DGFSQNENKN SYLCNTGGRM HLVCPMSKSP YVDPHKSGHE IWEEFSMSFT PAVKEVVEFA
421 KRIPGFRDLS QHDQVNLLKA GTFEVLMVRF ASLFDAKERT VTFLSGKKYS VDDLHSMGAG
481 DLLNSMFEFS EKLNALQLSD EEMSLFTAVV LVSADRSGIE NVNSVEALQE TLIRALRTLI
541 MKNHPNEASI FTKLLLKLPD LRSLNNMHSE ELLAFKVHPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NR1D2 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)
- 0.47
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 51 nTPM
- thyroid gland: 51 nTPM
- parathyroid gland: 50 nTPM
- tongue: 47 nTPM
- cerebellum: 34 nTPM
- ovary: 33 nTPM
Single-cell type
- endometrial glandular cells: 384 nCPM
- endometrial ciliated cells: 194 nCPM
- endometrial luminal cells: 193 nCPM
- retinal bipolar cells: 184 nCPM
- rod photoreceptor cells: 169 nCPM
- myonuclei: 164 nCPM
Immune cell
- MAIT T-cell: 2.6 nTPM
- memory CD4 T-cell: 1.6 nTPM
- gdT-cell: 1.4 nTPM
- memory CD8 T-cell: 1.3 nTPM
- intermediate monocyte: 1.1 nTPM
- naive CD4 T-cell: 1.1 nTPM
Brain region
- cerebellum: 59 nTPM
- cerebral cortex: 46 nTPM
- white matter: 42 nTPM
- thalamus: 39 nTPM
- midbrain: 35 nTPM
- hypothalamus: 34 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NR1D2.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 89 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Familial atrioventricular septal defect
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)
- 0.62
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.93
- DepMap mean gene effect
- -0.05
- 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
- cell differentiation
- circadian behavior
- energy homeostasis
- hormone-mediated signaling pathway
- intracellular receptor signaling pathway
- lipid homeostasis
- negative regulation of DNA-templated transcription
- negative regulation of inflammatory response
- negative regulation of transcription by RNA polymerase II
- 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 inflammatory response
- regulation of lipid metabolic process
- regulation of skeletal muscle cell differentiation
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- nuclear receptor activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Nuclear hormone receptor, ligand-binding domain
- Zinc finger, nuclear hormone receptor-type
- Nuclear hormone receptor
- Zinc finger, NHR/GATA-type
- Nuclear hormone receptor-like domain superfamily
- Nuclear hormone receptor family NR1 subfamily
- Ligand-binding domain of nuclear hormone receptor
- Double treble clef zinc finger, C4 type
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NR1D2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NR1D2 as an antibody target. Whether an autoantibody or antibody against NR1D2 could matter depends on whether native NR1D2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NR1D2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NR1D2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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