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NR1D2 nuclear receptor subfamily 1 group D member 2 [ Homo sapiens (human) ]

Gene ID: 9975, updated on 8-Jul-2021

Summary

Official Symbol
NR1D2provided by HGNC
Official Full Name
nuclear receptor subfamily 1 group D member 2provided by HGNC
Primary source
HGNC:HGNC:7963
See related
Ensembl:ENSG00000174738 MIM:602304
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RVR; BD73; EAR-1R; REVERBB; REVERBbeta
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 35.4), ovary (RPKM 18.9) and 25 other tissues See more
Orthologs
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Genomic context

See NR1D2 in Genome Data Viewer
Location:
3p24.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (23945286..23980618)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (23986777..24022108)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 E1 Neighboring gene ADP ribosylation factor like GTPase 4A pseudogene 4 Neighboring gene NFKB inhibitor interacting Ras like 1 Neighboring gene ribosomal protein L15 Neighboring gene long intergenic non-protein coding RNA 691 Neighboring gene nucleophosmin 1 pseudogene 23

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in circadian behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in energy homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of lipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of skeletal muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
nuclear receptor subfamily 1 group D member 2
Names
V-erbA-related protein 1-related
nuclear receptor Rev-ErbA beta variant 1
nuclear receptor Rev-ErbA beta variant 2
orphan nuclear hormone receptor BD73
rev-erb alpha-related receptor
rev-erb-beta
rev-erba-alpha-related receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001145425.2NP_001138897.1  nuclear receptor subfamily 1 group D member 2 isoform 2

    See identical proteins and their annotated locations for NP_001138897.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate first exon and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC124914, AK301925, CA412377
    UniProtKB/TrEMBL
    B4DXD3
    Conserved Domains (2) summary
    cd06940
    Location:314502
    NR_LBD_REV_ERB; The ligand binding domain of REV-ERB receptors, members of the nuclear receptor superfamily
    cd07166
    Location:23111
    NR_DBD_REV_ERB; DNA-binding domain of REV-ERB receptor-like is composed of two C4-type zinc fingers
  2. NM_005126.5NP_005117.3  nuclear receptor subfamily 1 group D member 2 isoform 1

    See identical proteins and their annotated locations for NP_005117.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC124914, CA412377, D16815, DR004486
    Consensus CDS
    CCDS33718.1
    UniProtKB/Swiss-Prot
    Q14995
    UniProtKB/TrEMBL
    F1D8P2
    Related
    ENSP00000310006.3, ENST00000312521.9
    Conserved Domains (2) summary
    cd06940
    Location:389577
    NR_LBD_REV_ERB; The ligand binding domain of REV-ERB receptors, members of the nuclear receptor superfamily
    cd07166
    Location:98186
    NR_DBD_REV_ERB; DNA-binding domain of REV-ERB receptor-like is composed of two C4-type zinc fingers

RNA

  1. NR_110524.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon compared to variant 1, that causes a frameshift. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC124914, BC015929, BC070035, CA312643, DR004486

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    23945286..23980618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713451.3XP_006713514.1  nuclear receptor subfamily 1 group D member 2 isoform X1

    Related
    ENSP00000373283.3, ENST00000383773.8
    Conserved Domains (2) summary
    cd07166
    Location:98186
    NR_DBD_REV_ERB; DNA-binding domain of REV-ERB receptor-like is composed of two C4-type zinc fingers
    cl11397
    Location:389445
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
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