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NR2C2 nuclear receptor subfamily 2 group C member 2 [ Homo sapiens (human) ]

Gene ID: 7182, updated on 7-Oct-2018

Summary

Official Symbol
NR2C2provided by HGNC
Official Full Name
nuclear receptor subfamily 2 group C member 2provided by HGNC
Primary source
HGNC:HGNC:7972
See related
Ensembl:ENSG00000177463 MIM:601426; Vega:OTTHUMG00000129839
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
TR4; TAK1
Summary
This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
Expression
Ubiquitous expression in brain (RPKM 10.5), thyroid (RPKM 9.7) and 25 other tissues See more
Orthologs

Genomic context

See NR2C2 in Genome Data Viewer
Location:
3p25.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (14947584..15049279)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14989091..15090780)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2011 Neighboring gene FYVE, RhoGEF and PH domain containing 5 Neighboring gene uncharacterized LOC105376963 Neighboring gene FGD5 antisense RNA 1 Neighboring gene mitochondrial ribosomal protein S25 Neighboring gene rabenosyn, RAB effector Neighboring gene ribosomal protein S24 pseudogene 10

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
NHGRI GWA Catalog

Pathways from BioSystems

  • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystem (from WikiPathways)
    Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystemThe pathways hypothesized to be involved in cardiovascular diseases begin with LTBPs and Fibrillins activating a TGFBR complex. The complex can begin the canonical TGFB pathway involving SMAD protei...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
  • Regulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Androgen receptor activity, organism-specific biosystem
    Regulation of Androgen receptor activity

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IC
Inferred by Curator
more info
 
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific IC
Inferred by Curator
more info
 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
nuclear receptor subfamily 2 group C member 2
Names
Nuclear hormone receptor TR4
orphan nuclear receptor TAK1
orphan nuclear receptor TR4
orphan receptor TR4
testicular nuclear receptor 4

NCBI Reference Sequences (RefSeq)

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_001291694.1NP_001278623.1  nuclear receptor subfamily 2 group C member 2 isoform 2

    See identical proteins and their annotated locations for NP_001278623.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC090937, AC090954, AI986459, AK290590
    Consensus CDS
    CCDS74905.1
    UniProtKB/Swiss-Prot
    P49116
    Related
    ENSP00000388387.1, OTTHUMP00000208280, ENST00000425241.5, OTTHUMT00000340729
    Conserved Domains (2) summary
    cd06952
    Location:361582
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:112198
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  2. NM_003298.4NP_003289.2  nuclear receptor subfamily 2 group C member 2 isoform 1

    See identical proteins and their annotated locations for NP_003289.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC090937, AC090954, AI986459, AK290590, L27586
    Consensus CDS
    CCDS2621.1
    UniProtKB/Swiss-Prot
    P49116
    UniProtKB/TrEMBL
    F2YGU2
    Related
    ENSP00000320447.6, OTTHUMP00000160276, ENST00000323373.10, OTTHUMT00000252079
    Conserved Domains (2) summary
    cd06952
    Location:380601
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:131217
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    14947584..15049279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534064.3XP_011532366.1  nuclear receptor subfamily 2 group C member 2 isoform X3

    See identical proteins and their annotated locations for XP_011532366.1

    UniProtKB/TrEMBL
    F2YGU2
    Conserved Domains (2) summary
    cd06952
    Location:380601
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:131217
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  2. XM_011534058.3XP_011532360.1  nuclear receptor subfamily 2 group C member 2 isoform X1

    See identical proteins and their annotated locations for XP_011532360.1

    Conserved Domains (2) summary
    cd06952
    Location:413634
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:164250
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  3. XM_011534063.3XP_011532365.1  nuclear receptor subfamily 2 group C member 2 isoform X2

    See identical proteins and their annotated locations for XP_011532365.1

    Conserved Domains (2) summary
    cd06952
    Location:394615
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:145231
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  4. XM_011534065.3XP_011532367.1  nuclear receptor subfamily 2 group C member 2 isoform X3

    See identical proteins and their annotated locations for XP_011532367.1

    UniProtKB/TrEMBL
    F2YGU2
    Conserved Domains (2) summary
    cd06952
    Location:380601
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:131217
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  5. XM_011534061.3XP_011532363.1  nuclear receptor subfamily 2 group C member 2 isoform X1

    See identical proteins and their annotated locations for XP_011532363.1

    Conserved Domains (2) summary
    cd06952
    Location:413634
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:164250
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  6. XM_011534059.2XP_011532361.1  nuclear receptor subfamily 2 group C member 2 isoform X1

    See identical proteins and their annotated locations for XP_011532361.1

    Conserved Domains (2) summary
    cd06952
    Location:413634
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:164250
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  7. XM_011534066.3XP_011532368.1  nuclear receptor subfamily 2 group C member 2 isoform X3

    See identical proteins and their annotated locations for XP_011532368.1

    UniProtKB/TrEMBL
    F2YGU2
    Conserved Domains (2) summary
    cd06952
    Location:380601
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:131217
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  8. XM_017007118.2XP_016862607.1  nuclear receptor subfamily 2 group C member 2 isoform X1

    Conserved Domains (2) summary
    cd06952
    Location:413634
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:164250
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  9. XM_017007119.1XP_016862608.1  nuclear receptor subfamily 2 group C member 2 isoform X1

    Conserved Domains (2) summary
    cd06952
    Location:413634
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:164250
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  10. XM_017007120.1XP_016862609.1  nuclear receptor subfamily 2 group C member 2 isoform X4

    UniProtKB/Swiss-Prot
    P49116
    Related
    ENSP00000384463.2, ENST00000406272.6
    Conserved Domains (2) summary
    cd06952
    Location:361582
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cd06967
    Location:112198
    NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
  11. XM_024453739.1XP_024309507.1  nuclear receptor subfamily 2 group C member 2 isoform X5

    Conserved Domains (2) summary
    cd06952
    Location:182403
    NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
    cl02596
    Location:119
    NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
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