Human Gene NR2E1 (uc003psg.3) Description and Page Index
Description: Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA. RefSeq Summary (NM_003269): The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. Transcript (Including UTRs) Position: hg19 chr6:108,487,215-108,510,013 Size: 22,799 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr6:108,487,970-108,508,667 Size: 20,698 Coding Exon Count: 9
ID:NR2E1_HUMAN DESCRIPTION: RecName: Full=Nuclear receptor subfamily 2 group E member 1; AltName: Full=Nuclear receptor TLX; AltName: Full=Protein tailless homolog; Short=Tll; Short=hTll; FUNCTION: Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half- site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be involved in retinoic acic receptor (RAR) regulation in retinal cells. SUBUNIT: Monomer (By similarity). Interacts with ATN1; the interaction represses the transcription (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Brain specific. Present in all brain sections tested, highest levels in the caudate nucleus and hippocampus, weakest levels in the thalamus. SIMILARITY: Belongs to the nuclear hormone receptor family. NR2 subfamily. SIMILARITY: Contains 1 nuclear receptor DNA-binding domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): NR2E1 CDC HuGE Published Literature: NR2E1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y466
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.