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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NR2E3 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 10002 Official gene symbol NR2E3 Full name nuclear receptor subfamily 2, group E, member 3 Aliases ,ESCS,MGC49976,PNR,RNR,RP37,rd7, Gene summary 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. [provided by RefSeq] Location Chromosome: 15   Locus: 15q22.32 Gene position 72102894 - 72110600  Map Viewer Gene orientation plus Gene size 7707 bp Gene sequence >NR2E3:42893451..42901157:Length=7707 AGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCC TGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGAC TGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGC CCTGTAACCCATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGC GCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGA TCCCACAGGTATGGCTTCTCCTGGAGGTAGGGTTGGGTCTGGGCCCTTGGGGAGCAGGGT AAGGGCCAGAGGTTCGCAGGGACCATGGAAGGAGCCAGAACAACTCAGACCCAGCCCCGC CGGCTGTGGGCAAGGGTGGGGTAGCCTGTGGGTAAACCCAGAATCCTAGAAACACGGTGG GGCGGGGATGGGGGTTGGGGGCGGGCAGGCTGCAGAGCCAGGACAGGACAGCCTAGCCGA TGGGGAAGGAAAGAACAGAGAAGCGCCCTTAGGGCTTAACAGCACAGAGGTCCCTAGTGG CGTTGACAAGAATGTTTCTGTGGGATGATGGAGCCTGAAGCCACCCACAGAGAAGGGATG GGAGCTGGGAAAGTGGAGCTAGGGCTCGGACTCTTGCTGAAAATTGGCCATTGAGGGAGG AGAGAGGGCAAGGAATGGGGGTGGGGGCTGGGGTGTGGATGCACAGTGAGGGAGACACTT CTCCAGATGGAAGAGTCACGCGTGGGTTCGTTCAAATGCGGGTGAGCGGGGCCTGAGGAC TGGGAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCC CTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTG CGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTT CTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGG CGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGG CAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCT CTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAA CCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGA GGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAAATGGGCAGCGGGACTGGCGTGTCGTCC TGACCCTTCCTGCCTCCCCAGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGG TCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCC CGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGG GCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGG ATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGG GCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTC CCGAGAAGCAGGCGCTAAGATCACAACCTCCTCCTCCAACAGCTGATGAGAATATTGATG TCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCC TGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGA ACCTGCCTGTGTTCTCCAGCCTGCCCTTCCGGGATCAGGTACCTACCGGCCTGCCTGCTG GGGAGCTAGGCTGGGCTGGGGTCAGGCGGCCCACTCGAGTCAACCAGACAGGGCACACAC ATCCCCACGCCAGTATGAATGCACACAGCTTGGATGGTGATGGCTGGGGACACACATACC TCTGATTCAGCGATGGCTGGGGTGCATCTCAGGGATGGTGACGGTGGGGGTGCATGCATC TCTGGCACAGGGATGATGGTCGGGGTGCACACCTAGGAGATGATGATGGCTAGGGACCTA CAGGGCCCAGGGTCTTCTTAAGTTCTGGAAGACCCTCAGGCCCTGCAGACATTCTGTGGG TAACAAGTGACCTGCACACCCTGAACAGGCTGAGTGGCTGACTCTAGGCCCCCTTGGAGC ACAAGTGCCTACGACTTCAGGGCTTGCATTTTAGTTCAATCTCTCCAGCTCTGGGCCATC CCTCTCGGCTTCTAATGGGCAAGCAGATCTTTCAGGAAAACCAGGAGGAGAGGCATGAGG AGGGTTTGAGGCCCTCAGCCAGTCTGTGTGCTGGGGTGGAGCAACTCAGAAGAGTCAGGC CACACCACTTGAATACACTCAACTTAGGACACTCATGAGGCATGTCTCTGAGGCTGCCCA ACTTCCAATGGCTCTGGGCGTTCCTAAATGTCCCAGCTGCAGCTCTGGATGGAACCCAGT GTCTCAGATGATAGGCAGCTGAGCCGGATGGTGCCAAATCCCAGAGCTCTGAGCCTCTGG CTGATGTCAGGAGAGCATTCTCGGGTCCCAGGACAGCACTTCCATTCCTTGGGTGCCTGA GATGGTGGCAGAGGCTCCAGACTGAGCCAGAGAAGCTGTGTGTCTGCCATAACAGGCACC CCTGTCTGAGCACAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGG GCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCGCCCGAGGCCTCT GCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAG GAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCCACGGAGTTTGCCTGCATGAA GGCCTTGGTCCTCTTCAAGCCAGGTAACTGAGTCTCTGCCCAAACCTTGAGTGGGAATTC TGGTGACTTCCATCTGCCTCTCACTCTCCCTCCACTACCCCCATGTGTGCAGATGTGTGT AGGCCTCTATCCTGGGGGGTGGGAGGAGAGTGGTGAGGCTGGACTCCCTTCTCCTTGGGG CCACTCCTGGTTGACTGTGAGGGGACAGGGCAGGCTGGGAGCCCCTGGGAGACCCTGAGC CCCAGCCGGAGCCCCTGGTGGCTCCTCTGGGCCTGGCAGAGCCCACCCCACAGGGCCCCA GGTCCATGTCTGCAGCCAGAACCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCCG TAAACCTGTGCTAAGCTCACTGGTGCTGCTTCTCCCCAGAGACGCGGGGCCTGAAGGATC CTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGG CCCACCACCCCAGCCAGCCCGTGAGGTGACCTGAGCATGCGCCCACCCACTCATCTGTCC CTGACCTCTAACCTTTCTCTGCCTCTCCCACACTCTCCCAGAGCTCACTGATTAGACAGC ACAAGGGTCTCAGTTCAACAGCATACAGCCAACATCTATGGTGTCCCAGGCACAGTGCCA GGCCCCGGGAGTGGGGACCAAGATGTACATAAGACAAAGCTACTGCCTTCTAGAGACAAC CGGCAGTGACCTCACTGAAGACAAAAACTGCCCTAGCCAGGTACTGAGGGTTGCATGAAT CTGCAGGAGACAGAGATCCCCTTGCATGGGAAACATAAAGCAGAATTGGGAGGGACTTTG TGGAGACAGGGCTGGACTTGAAAGGAAGAAGAAGTCTAAAAGAAAACATCATTTGCAAAG GGAGAGAGGGGCAAGCATGATATGTTGTTAGAACAGGAGCCCACTTTGAAGGTATAACAG GTTCCTGCCAGTGAGAAATGGGGAGAATAAGCCAGAAAAGTACCCTAGGACCAGCCCGTT CAGGACTTTGAATGCCAGCCAAAGGCCACGTCTGACTTGGGAGGCAGAGGGCAGCTACTG CAGGTTTCCGAGCAGAGGGTCATACACAGGGCTGGACCTCACGCAGACTGGCATGGCCAT GGGTCCAGAGGATACTACTGGGAAGGGGATGGCAGCTACTGCCACCTTCCAGATGGTTCC ATGGAGTTCTGATCTTTGGGCATGGCCAGGGGAAGCAGAAGGGAGACTCTAGGAGTTGAA ATGGGTCAGACCCGGTGTTTGGGTGAAGGTAAGGAATGAGGGAAGAGGAGCTCTTTGGGA GAAGACATTGTTAAAAATATAAAAAGGAAAGCCAGGAGGAAAGACGGTTTTGAGGGAAGA TGATAAGGTGTTTTGTAGGTGCACTGAGCATCCTGTAGAGATGCCAAGCACATGGATGGC CCTGGCTAGGTTTGGGGGAGAGTTGCTGCAGGCTGAGTGTGGCTGCGCGAGGGTGGGGCA GGAGCCGGTGCTCTGGGACTACGCTGTTTGGCCCAGCACAGGCAGATGTCATGGAGCCTC AGCAAGGTTGGAACATTTGGCCTTCAGGCATCTACTGGCTATTTTAGACCATGTTATCTG CAATCTTTGGGGCTCCCGGCAGTTTCTTTCTGAAGAAGCAAGCTAATATGGGCATCCTTG CATCACCTCTAATCCAAGAAATGATTACAAGGAGAAAAGGTAATTTCCTTTTAAGAAAAG CCACAGTATACAAAGTATATGCCATATAGCACAGGAAGATTTGTGCTGCTTATGAGCATA GGGAGAACGCTGCTACTACTAAGACTTGACTTAGCATCTGAAGAGTGGGATTCAGAGACA TTCAGAAACCAGCAGCCTTTCTCTGCCAAGTTTCTGTTGGAACCAACTCCCAGAGATGTC CTGGCATATTGGTTATGCGTCAAATTTCAAAATGCTGATTAAGATTTCCTATGTCCCTTT TATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCT CTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTA CCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACC CTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGA CCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACA TTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATTTAGATCAGAAAAA CAGAAGCAGGGAAGGCAGATGGGAGGGGTATACGACTTGCTCAGTGCTGCTCACTTGGCA CTAGCAAGAGAAAGGAAGGCCTTAGGTTGGCAAAGCAAGTCCAGCAGATCACTGAGTGGT GGGGAAGTCTTCCCCGAAATTCACGGTGAGAGGAGCATGGGACTGCCCAATGTGGAGTAG CCTCCTTGATGCTGGGTGTTGACCCTGGCCATCAGACCTACCCAGGGAAGGTTTAGTTCC CCCATCTGTCTCTTGGGGCTTCACCATCCGTCTTTTGTGTTGCGGACTCCTGTCTTAGCA AATACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTCTGTCACCCAGGCTGGAG CGCAGTGGCGTGATCTCGGTTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGCATTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGTTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACG CTCAGCCAGCAAATAGTTCTTATTTAAAACAATAAATATTTTTTTCAATGACTATCTCAG TCACCAAAATTATCCTTCAACTTCAGGACATTTTCAGTAATGGCTATCATCATCCTAGGT GGTATACAGACAGGAATTTGTATTCTTACAAACAATTCTTATCTACTAAAAACTAATCAT ATAATTATAATACTTATATATGAGATTAATAATAATATTTTCATATACAGGTGCTCCTTG ACTTATGATGGGGTTACATCTGGATAAACCCATTGTTAAGTTGAAGCTACTGTAAGTTGA AGATGAATTTTCATACATAACCCATCTTAAGTCAAGGAGCATACTGAATGCTTATCACTT TCACACCATGATAAAGTCGAACCATCTGTATAGAGTTAATATAAACTTCACTTTATAATC TTTACATATAATAAACAATATTTACTCATTATTTTCATTGCACTCCTAAACTAAATAGAG GGTGGCGGCTCACAATGGGTCGAGGTAGGTGGAGGCAACTCCTCTGGTTAATGCGGCTTT TCTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTAGCCGAGGCTGGAGTG CAGTAGCGGGATCTCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTG TATATTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCT TGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCACGCC TGGCCTGAATGTGGCTTTTCCTCGAAATTCCTCCTGACCCACTCTGGGGACCTCATCTCT CCTCTCCTTCCTCCCCTCCCTTTCCTGGGAGGGCACCGCCCCAGGGACTAGTGCTCAGAA GCTGGTCGTAAAACTGATGGCGTCCTCTCTCCTGTTCAGGTTTGGGAAATTGCTCCTGCT CCTCCCGTCTTTGAGGTTTATCACTGCGGAACGCATCGAGCTCCTCTTTTTCCGCAAGAC CATAGGGAATACTCCAATGGAGAAGCTCCTTTGTGATATGTTCAAAAACTAGTGGGGGTG GAGGTGAAATGTTTCCAAGCACTCTGGAAAACAATCTACTGAAACGAAACATTTGCCTAC TCTTTGCCCCAGCAATTCCTCGTAGGTGTGTGTACCCAGCAGAAATGCCCACCGAAAGAT ATTGTAAGAATATTCATAGCAGCTTTATTCATAATAGCCCCAAACTGTATATTGATGGTA GGATGAATTAACAAGTTGTGGTATATTCATATAATGAAAAATAATTTAAAAAGAATGAAT TACGGATACATGTGGCAACACAGGTAAACTTCACAGACATAAAAGTTGAATGAAAGAAGC CAGGCCGAAGTTCCATTTATGCAGAGTTCAGGAACAGGCAAGACTAATTGACAATAATAG AAGTTGGAATAGTGGTTACTTCTGGGTGGTGGGGGATTGATACAGAGGGGGCTCATGGGA GCCCTCTGGTGTACCAGAAATGTTGATTTTGATCTGGGCAGTGGTTTCACAAATGTATTC ATACGTAATAATTCATTGAGCTGTGCACTTTATTTTGTTAGACCTCAATAAAAAAGTAAA AAAAAAAAACAAAAAAAACCAGAAAAA OMIM ID 604485