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  2. NR2C1 - nuclear receptor subfamily 2 group C member 1 Gene

NR2C1 - nuclear receptor subfamily 2 group C member 1 Gene

Homo sapiens

Also known as TR2

Gene ID: 7181 | Gene type: protein coding

About NR2C1

Cytogenetic location: 12q22 Genomic coordinates (GRCh38): 12:95,020,229-95,073,618 (from NCBI)

This gene has 19 transcripts (splice variants), 233 orthologues and 11 paralogues. Ubiquitous expression in testis (RPKM 8.3), endometrium (RPKM 5.9) and 25 other tissues.

Summary

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 Products(3)

mRNA Protein Name
NM_001032287.3 NP_001027458.1 nuclear receptor subfamily 2 group C member 1 isoform b
NM_001127362.2 NP_001120834.1 nuclear receptor subfamily 2 group C member 1 isoform c
NM_003297.4 NP_003288.2 nuclear receptor subfamily 2 group C member 1 isoform a

NR2C1 Protein Structure

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (112 - 180)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (381 - 573)

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  • 603 a.a.
Protein Preferred Names Protein Names

nuclear receptor subfamily 2 group C member 1

TR2 nuclear hormone receptor

Related Diseases

Diseases Alias
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta NR2C1 VGNC VGNC:75508
Rattus norvegicus NR2C1 RGD RGD:3200
Felis catus NR2C1 VGNC VGNC:68548
Mus musculus NR2C1 MGD MGI:1352465
Canis familiaris NR2C1 VGNC VGNC:43946
Bos taurus NR2C1 VGNC VGNC:32235