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This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
NR2C1 (Nuclear Receptor Subfamily 2 Group C Member 1) is a Protein Coding gene. Among its related pathways are Gene Expression and Regulation of Androgen receptor activity. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NR2C2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA,TAS | 3421977 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0016605 | PML body | IEA | -- |
GO:0042025 | host cell nucleus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gene Expression |
.48
|
|
2 | Nuclear Receptor transcription pathway | ||
3 | Regulation of Androgen receptor activity | ||
4 | Signaling events mediated by HDAC Class I |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA,IPI | 17974920 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
GO:0030154 | cell differentiation | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | · | 1h | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8 | ^ | 9 | ^ | 10 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: |
ExUns: | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | · | 15c | ^ | 16a | · | 16b | ^ | 17a | · | 17b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||||
SP15: | - | - | - | ||||||||||||||||||||||||||
SP16: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NR2C1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NR2C1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NR2C1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NR2C1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nr2c1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nr2c1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NR2C1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NR2C1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NR2C1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nr2c1 30 |
|
||
Str.15706 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.21534 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nr2c1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Hr78 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | nhr-41 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9698 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
816803 | Likely Pathogenic: Flexion contracture | 95,058,309(-) | C/G | SPLICE_DONOR_VARIANT |
No disorders were found for NR2C1 Gene.