Gene: LOC107986529

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ESR1

Alternate names for this Gene: ER|ESR|ESRA|ESTRR|Era|NR3A1

Gene Summary: This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.1-q25.2

Description of this Gene: estrogen receptor 1

Type of Gene: protein-coding

rs1890010 in LOC107986529;ESR1 gene and Bone Density PMID 19801982 2009 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.

PMID 19079262 2009 New sequence variants associated with bone mineral density.

rs2504063 in LOC107986529;ESR1 gene and Bone Mineral Density Test PMID 21927923 2012 Meta-analysis of gene-based genome-wide association studies of bone mineral density in Chinese and European subjects.