User:JonSDSUGrad/Sandbox/TEST NR2E3

From Wikipedia, the free encyclopedia

nuclear receptor subfamily 2
Identifiers
Symbol(s) NR2E3; PNR; ESCS; MGC49976; RNR; rd7
External IDs OMIM: 604485 MGI1346317 HomoloGene84397
Orthologs
Human Mouse
Entrez 10002 23958
Ensembl ENSG00000031544 ENSMUSG00000032292
Uniprot Q9Y5X4 Q9QXZ7
Refseq NM_014249 (mRNA)
NP_055064 (protein)
NM_013708 (mRNA)
NP_038736 (protein)
Location Chr 15: 69.89 - 69.9 Mb Chr 9: 59.74 - 59.75 Mb
Pubmed search [1] [2]

This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified.

Automatic update 1