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] See more...

Aliases for NR1D2 Gene

Aliases for NR1D2 Gene

  • Nuclear Receptor Subfamily 1 Group D Member 2 2 3 4 5
  • RVR 2 3 4
  • Orphan Nuclear Hormone Receptor BD73 3 4
  • V-ErbA-Related Protein 1-Related 3 4
  • Rev-Erb Alpha-Related Receptor 3 4
  • Rev-Erb-Beta 3 4
  • REVERBbeta 2 3
  • REVERBB 2 3
  • EAR-1R 3 4
  • BD73 2 3
  • Nuclear Receptor Subfamily 1, Group D, Member 2 2
  • Nuclear Receptor Rev-ErbA Beta Variant 1 3
  • Nuclear Receptor Rev-ErbA Beta Variant 2 3
  • Rev-Erba-Alpha-Related Receptor 3
  • Hs.37288 2
  • EAR-1r 2
  • NR1D2 5
  • HZF2 2

External Ids for NR1D2 Gene

Previous GeneCards Identifiers for NR1D2 Gene

  • GC03U990106
  • GC03P023669
  • GC03P023836

Summaries for NR1D2 Gene

Entrez Gene Summary for NR1D2 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]

GeneCards Summary for NR1D2 Gene

NR1D2 (Nuclear Receptor Subfamily 1 Group D Member 2) is a Protein Coding gene. Diseases associated with NR1D2 include Atrioventricular Septal Defect and Advanced Sleep Phase Syndrome. Among its related pathways are Diurnally Regulated Genes with Circadian Orthologs and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and steroid hormone receptor activity. An important paralog of this gene is NR1D1.

UniProtKB/Swiss-Prot Summary for NR1D2 Gene

  • Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARNTL/BMAL1 and CLOCK. Also regulates genes involved in metabolic functions, including lipid metabolism and the inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 corepressor complex, enhancing transcriptional repression. Recognizes two classes of DNA response elements within the promoter of its target genes and can bind to DNA as either monomers or homodimers, depending on the nature of the response element. Binds as a monomer to a response element composed of the consensus half-site motif 5'-[A/G]GGTCA-3' preceded by an A/T-rich 5' sequence (RevRE), or as a homodimer to a direct repeat of the core motif spaced by two nuclegotides (RevDR-2). Acts as a potent competitive repressor of ROR alpha (RORA) function and also negatively regulates the expression of NR1D1. Regulates lipid and energy homeostasis in the skeletal muscle via repression of genes involved in lipid metabolism and myogenesis including: CD36, FABP3, FABP4, UCP3, SCD1 and MSTN. Regulates hepatic lipid metabolism via the repression of APOC3. Represses gene expression at a distance in macrophages by inhibiting the transcription of enhancer-derived RNAs (eRNAs). In addition to its activity as a repressor, can also act as a transcriptional activator. Acts as a transcriptional activator of the sterol regulatory element-binding protein 1 (SREBF1) and the inflammatory mediator interleukin-6 (IL6) in the skeletal muscle (By similarity). Plays a role in the regulation of circadian sleep/wake cycle; essential for maintaining wakefulness during the dark phase or active period (By similarity). Key regulator of skeletal muscle mitochondrial function; negatively regulates the skeletal muscle expression of core clock genes and genes involved in mitochondrial biogenesis, fatty acid beta-oxidation and lipid metabolism (By similarity). May play a role in the circadian control of neutrophilic inflammation in the lung (By similarity).

Tocris Summary for NR1D2 Gene

  • Rev-Erb receptors are orphan nuclear receptors belonging to the NR1D receptor family. There are two types, Rev-Erbalpha and Rev-Erbbeta. They are important in the regulation of circadian rhythm, as well as lipid homeostasis and lipid metabolism.

Gene Wiki entry for NR1D2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NR1D2 Gene

Genomics for NR1D2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NR1D2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J023945 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 611.3 +1.0 953 5.5 RNF2 SP1 CREB1 HNRNPL TEAD4 PRDM10 ZNF629 TFE3 ZNF512 LEF1 NR1D2 NKIRAS1 lnc-THRB-6
GH03J023915 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 13.1 -27.6 -27600 5 BRCA1 RNF2 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 REST NKIRAS1 NONHSAG034609.2 RPL15 NR1D2 lnc-RPL15-1
GH03J023803 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 -137.4 -137416 9.1 HNRNPL GATAD2A CTCF PRDM10 LEF1 IKZF1 ZNF692 POLR2A BACH1 JUND UBE2E1 UBE2E1-AS1 RPL15 NKIRAS1 NR1D2 RF00017-3943
GH03J024237 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.3 +293.0 292967 2.1 CTCF ZNF629 ZNF692 ZNF174 JUND ZSCAN4 PATZ1 REST RAD21 ZNF740 NR1D2 RPL15 piR-33605-282 piR-57176-462 THRB NKIRAS1
GH03J023818 Enhancer 1.1 Ensembl ENCODE 11.4 -117.1 -117085 21.2 SP1 CTCF ZNF629 IKZF1 BACH1 STAT3 JUND PRDM1 RELA RAD21 UBE2E1 UBE2E1-AS1 RPL15 NKIRAS1 NR1D2 RF00017-3943 piR-38352-369
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NR1D2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR1D2

Top Transcription factor binding sites by QIAGEN in the NR1D2 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • Pax-4a
  • Pbx1a
  • YY1

Genomic Locations for NR1D2 Gene

Genomic Locations for NR1D2 Gene
chr3:23,945,286-23,980,618
(GRCh38/hg38)
Size:
35,333 bases
Orientation:
Plus strand
chr3:23,986,751-24,022,109
(GRCh37/hg19)
Size:
35,359 bases
Orientation:
Plus strand

Genomic View for NR1D2 Gene

Genes around NR1D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR1D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR1D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR1D2 Gene

Proteins for NR1D2 Gene

  • Protein details for NR1D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14995-NR1D2_HUMAN
    Recommended name:
    Nuclear receptor subfamily 1 group D member 2
    Protein Accession:
    Q14995
    Secondary Accessions:
    • B2R8Q3
    • O00402
    • Q86XD4

    Protein attributes for NR1D2 Gene

    Size:
    579 amino acids
    Molecular mass:
    64625 Da
    Quaternary structure:
    • Binds DNA as a monomer or a homodimer (PubMed:17870090). Interacts with NCOA5 coactivator, leading to a strong increase of transcription of target genes (PubMed:11113208). Interacts (via N-terminus) with KAT5 (PubMed:17996965). Interacts (via C-terminus) with HDAC1 (PubMed:17996965). Interacts with ZNHIT1 (PubMed:17892483). Interacts with SIAH2 (PubMed:26392558).

    Three dimensional structures from OCA and Proteopedia for NR1D2 Gene

neXtProt entry for NR1D2 Gene

Post-translational modifications for NR1D2 Gene

  • Deacetylated by HDAC1. Acetylation and deacetylation regulate its transcriptional regulatory activity.
  • Under more reducing intracellular redox conditions, Cys-384 is in its heme-bound state, which is optimal for recruitment of the NCOR1/HDAC3 corepressor complex and repression of target genes. When subjected to oxidative stress conditions, Cys-384 undergoes oxidation to form a disulfide bridge with Cys-374, also triggering a ligand switch that results in release of bound heme and derepression of target genes.
  • Ubiquitinated by SIAH2; leading to proteasomal degradation.
  • Phosphorylated by CSNK1E; phosphorylation enhances its cytoplasmic localization.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR1D2 Gene

No data available for DME Specific Peptides for NR1D2 Gene

Domains & Families for NR1D2 Gene

Gene Families for NR1D2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NR1D2 Gene

InterPro:
Blocks:
  • Vitamin D receptor signature
  • Steroid hormone receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for NR1D2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51368, highly similar to Orphan nuclear receptor NR1D2 (B4DXD3_HUMAN)
  • Nuclear receptor subfamily 1, group D, member 2 (B6ZGS3_HUMAN)
  • Nuclear receptor Rev-ErbA beta variant 1 (F1D8P2_HUMAN)
  • V-erbA-related protein 1-related (NR1D2_HUMAN)
  • NR1D2 protein (Q6I9S1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14995

UniProtKB/Swiss-Prot:

NR1D2_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with NR1D2: view

Function for NR1D2 Gene

Molecular function for NR1D2 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARNTL/BMAL1 and CLOCK. Also regulates genes involved in metabolic functions, including lipid metabolism and the inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 corepressor complex, enhancing transcriptional repression. Recognizes two classes of DNA response elements within the promoter of its target genes and can bind to DNA as either monomers or homodimers, depending on the nature of the response element. Binds as a monomer to a response element composed of the consensus half-site motif 5'-[A/G]GGTCA-3' preceded by an A/T-rich 5' sequence (RevRE), or as a homodimer to a direct repeat of the core motif spaced by two nuclegotides (RevDR-2). Acts as a potent competitive repressor of ROR alpha (RORA) function and also negatively regulates the expression of NR1D1. Regulates lipid and energy homeostasis in the skeletal muscle via repression of genes involved in lipid metabolism and myogenesis including: CD36, FABP3, FABP4, UCP3, SCD1 and MSTN. Regulates hepatic lipid metabolism via the repression of APOC3. Represses gene expression at a distance in macrophages by inhibiting the transcription of enhancer-derived RNAs (eRNAs). In addition to its activity as a repressor, can also act as a transcriptional activator. Acts as a transcriptional activator of the sterol regulatory element-binding protein 1 (SREBF1) and the inflammatory mediator interleukin-6 (IL6) in the skeletal muscle (By similarity). Plays a role in the regulation of circadian sleep/wake cycle; essential for maintaining wakefulness during the dark phase or active period (By similarity). Key regulator of skeletal muscle mitochondrial function; negatively regulates the skeletal muscle expression of core clock genes and genes involved in mitochondrial biogenesis, fatty acid beta-oxidation and lipid metabolism (By similarity). May play a role in the circadian control of neutrophilic inflammation in the lung (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
The heme-bound form can bind gaseous signaling molecules such as CO and nitric oxide (NO) and NO can reverse its transcriptional repressor activity.
GENATLAS Biochemistry:
nuclear receptor subfamily 1,group D,member 2,in a duplicated region including THRB and RARB in a region paralog to a region of chromosome 17q11.12 including THRA,NR1D1,RARA

Phenotypes From GWAS Catalog for NR1D2 Gene

Gene Ontology (GO) - Molecular Function for NR1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 17892483
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0000987 proximal promoter sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with NR1D2: view
genes like me logo Genes that share phenotypes with NR1D2: view

Animal Models for NR1D2 Gene

MGI Knock Outs for NR1D2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1D2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NR1D2 Gene

Localization for NR1D2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR1D2 Gene

Nucleus. Cytoplasm. Note=Phosphorylation by CSNK1E enhances its cytoplasmic localization. {ECO:0000250 UniProtKB:Q60674}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR1D2 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NR1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,TAS 7997240
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
GO:0042025 host cell nucleus IEA --
genes like me logo Genes that share ontologies with NR1D2: view

Pathways & Interactions for NR1D2 Gene

genes like me logo Genes that share pathways with NR1D2: view

Gene Ontology (GO) - Biological Process for NR1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA,TAS 7997240
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007275 multicellular organism development IBA --
GO:0009755 hormone-mediated signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with NR1D2: view

No data available for SIGNOR curated interactions for NR1D2 Gene

Drugs & Compounds for NR1D2 Gene

(5) Drugs for NR1D2 Gene - From: DrugBank, ApexBio, DGIdb, and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
SR-9009 Experimental Pharma Target, agonist 0
SR-9011 Experimental Pharma Target, agonist 0
heme Pharma Agonist 0
GSK 4112 Pharma antagonist of the Nuclear Heme Receptor REV-ERB 0
SR 8278 Pharma 0

(2) ApexBio Compounds for NR1D2 Gene

Compound Action Cas Number
GSK 4112 antagonist of the Nuclear Heme Receptor REV-ERB 1216744-19-2
SR 8278 1254944-66-5
genes like me logo Genes that share compounds with NR1D2: view

Drug Products

Transcripts for NR1D2 Gene

mRNA/cDNA for NR1D2 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1D2

Alternative Splicing Database (ASD) splice patterns (SP) for NR1D2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2: - -
SP3:

Relevant External Links for NR1D2 Gene

GeneLoc Exon Structure for
NR1D2

Expression for NR1D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NR1D2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NR1D2 Gene

This gene is overexpressed in Cervix (54.9) and Heart (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NR1D2 Gene



Protein tissue co-expression partners for NR1D2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR1D2

SOURCE GeneReport for Unigene cluster for NR1D2 Gene:

Hs.37288

mRNA Expression by UniProt/SwissProt for NR1D2 Gene:

Q14995-NR1D2_HUMAN
Tissue specificity: Widely expressed. Expressed at high levels in the liver, adipose tissue, skeletal muscle and brain. Expression oscillates diurnally in the suprachiasmatic nucleus (SCN) of the hypothalamus as well as in peripheral tissues.

Evidence on tissue expression from TISSUES for NR1D2 Gene

  • Nervous system(4.8)
  • Blood(4.4)
  • Muscle(2.8)
  • Liver(2.8)
  • Kidney(2.4)
  • Eye(2.4)
  • Heart(2.4)
  • Thyroid gland(2.4)
  • Skin(2.1)
  • Adrenal gland(2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with NR1D2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NR1D2 Gene

Orthologs for NR1D2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR1D2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NR1D2 30 31
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NR1D2 30 31
  • 95.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nr1d2 30 17 31
  • 89.06 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NR1D2 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NR1D2 31
  • 87 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia NR1D2 30 31
  • 86.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nr1d2 30
  • 84.52 (n)
Chicken
(Gallus gallus)
Aves NR1D2 30
  • 79.41 (n)
REV-ERBB 31
  • 79 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NR1D2 31
  • 75 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii nr1d2b 30 31
  • 64.66 (n)
OneToOne
reverbb 30
Fruit Fly
(Drosophila melanogaster)
Insecta Eip75B 31
  • 12 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea nhr-85 31
  • 24 (a)
ManyToMany
sex-1 31
  • 22 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 18 (a)
OneToMany
Species where no ortholog for NR1D2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for NR1D2 Gene

ENSEMBL:
Gene Tree for NR1D2 (if available)
TreeFam:
Gene Tree for NR1D2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NR1D2: view image

Paralogs for NR1D2 Gene

(17) SIMAP similar genes for NR1D2 Gene using alignment to 7 proteins:

  • NR1D2_HUMAN
  • B4DXD3_HUMAN
  • B6ZGS3_HUMAN
  • F1D8P2_HUMAN
  • Q6I9S1_HUMAN
  • Q6NSM0_HUMAN
  • Q96B66_HUMAN
genes like me logo Genes that share paralogs with NR1D2: view

Variants for NR1D2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR1D2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
690345 Likely Pathogenic: Atrioventricular septal defect 23,961,982(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
775851 Benign: not provided 23,956,113(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs17854365 - p.Pro21His
rs17857305 - p.Gln282Lys
rs17857306 - p.Pro288Arg

Additional dbSNP identifiers (rs#s) for NR1D2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NR1D2 Gene

Variant ID Type Subtype PubMed ID
esv3404389 CNV duplication 20981092
esv3568648 CNV loss 25503493
nsv1005186 CNV gain 25217958
nsv1073208 CNV deletion 25765185
nsv1123633 CNV deletion 24896259
nsv1126644 CNV deletion 24896259
nsv834638 CNV loss 17160897

Variation tolerance for NR1D2 Gene

Residual Variation Intolerance Score: 32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 37.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NR1D2 Gene

Human Gene Mutation Database (HGMD)
NR1D2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR1D2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR1D2 Gene

Disorders for NR1D2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NR1D2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
atrioventricular septal defect
  • ecd
advanced sleep phase syndrome
  • familial advanced sleep-phase syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NR1D2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with NR1D2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NR1D2 Gene

Publications for NR1D2 Gene

  1. A new orphan member of the nuclear hormone receptor superfamily closely related to Rev-Erb. (PMID: 7997240) Dumas B … Moore DD (Molecular endocrinology (Baltimore, Md.) 1994) 2 3 4
  2. Ubiquitin ligase Siah2 regulates RevErbα degradation and the mammalian circadian clock. (PMID: 26392558) DeBruyne JP … Hogenesch JB (Proceedings of the National Academy of Sciences of the United States of America 2015) 3 4
  3. Thiol-disulfide redox dependence of heme binding and heme ligand switching in nuclear hormone receptor rev-erb{beta}. (PMID: 21123168) Gupta N … Ragsdale SW (The Journal of biological chemistry 2011) 3 4
  4. The orphan nuclear receptor Rev-erbbeta recruits Tip60 and HDAC1 to regulate apolipoprotein CIII promoter. (PMID: 17996965) Wang J … Lu H (Biochimica et biophysica acta 2008) 3 4
  5. A zinc finger HIT domain-containing protein, ZNHIT-1, interacts with orphan nuclear hormone receptor Rev-erbbeta and removes Rev-erbbeta-induced inhibition of apoCIII transcription. (PMID: 17892483) Wang J … Lu H (The FEBS journal 2007) 3 4

Products for NR1D2 Gene

  • Signalway ELISA kits for NR1D2

Sources for NR1D2 Gene