LEPR

Also known as CD295, LEP-R, LEPRD, OB-R, OBR, leptin receptor

protein-coding gene in the species Homo sapiens

Gene data

LEPR

Name: leptin receptor
Type: protein-coding
Position: 65,420,652–65,641,559 (+)
Aliases: CD295, LEP-R, LEPRD, OB-R, OBR, huB219
Ensembl: ENSG00000116678
RefSeq RNA: NM_001003679.3, NM_001003680.3, NM_001198687.2, NM_001198688.1, NM_001198689.2
RefSeq protein: NP_001003679.1, NP_001003680.1, NP_001185616.1, NP_001185617.1, NP_001185618.1

The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010].