AC T03723
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ID T03723
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DT 14.08.2000 (created); bme.
DT 15.06.2009 (updated); smt.
CO Copyright (C), QIAGEN.
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FA PNR
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SY NR2E3; photoreceptor-specific nuclear receptor; retina-specific nuclear receptor; RNR.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G004021 NR2E3; HGNC: NR2E3.
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CL C0002; CC (rec); 2.1.3.3.2.
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SF at least three transcripts (2,3, 3.0, 7.5 kb) exist [2];
SF at least two isoforms (due to differential splicing) exist: a short form with 367 aa (shown here) and a long form with 410 aa [2];
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EX adrenal gland (right and left),,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX bone marrow,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX brain,,,adult; none; Northern blot; mRNA (poly-A); [2].
EX brain,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX brain,,,fetal; none; RT-PCR; mRNA (poly-A); [2].
EX heart,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX kidney (right and left),,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX liver,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX liver,,,fetal; none; RT-PCR; mRNA (poly-A); [2].
EX lung (right and left),,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX lung (right and left),,,fetal; none; RT-PCR; mRNA (poly-A); [2].
EX mammary gland,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX muscles,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX pancreas,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX placenta,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX prostate gland,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX retina,,,adult; high; Northern blot; mRNA (poly-A); [2].
EX retina,,,adult; high; RT-PCR; mRNA (poly-A); [2].
EX small intestine,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX spleen,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX testis (right and left),,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX thymus,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX thyroid gland,,,adult; none; RT-PCR; mRNA (poly-A); [2].
EX uterus,,,adult; none; RT-PCR; mRNA (poly-A); [2].
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FF potential transcriptional repressor [2];
FF role in the regulation of signalling pathways intrinsic to the photoreceptor cell function [1];
FF ligand-independent transcriptional repression activity of ligand-binding domain [2];
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MX M01650 V$PNR_01.
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BS R28147.
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DR TRANSPATH: MO000027655.
DR PATHODB: MT010507.
DR PATHODB: MT010515.
DR PATHODB: MT010516.
DR PATHODB: MT010517.
DR PATHODB: MT010518.
DR PATHODB: MT010519.
DR PATHODB: MT010520.
DR PATHODB: MT010521.
DR PATHODB: MT010522.
DR PATHODB: MT010523.
DR PATHODB: MT010524.
DR UniProtKB: Q9Y5X4;
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RN [1]; RE0014986.
RX PUBMED: 10655056.
RA Haider N.B., Jacobson S.G., Cideciyan A.V., Swiderski R., Streb L.M., Searby C., Beck G., Hockey R., Hanna D.B., Gorman S., Duhl D., Carmi R., Bennett J., Weleber R.G., Fishman G.A., Wright A.F., Stone E.M., Sheffield V.C.
RT Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
RL Nat. Genet. 24:127-131 (2000).
RN [2]; RE0017116.
RX PUBMED: 10611353.
RA Chen F., Figueroa D. J., Marmorstein A. D., Zhang Q., Petrukhin K., Caskey C. T., Austin C. P.
RT Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells
RL Proc. Natl. Acad. Sci. USA 96:15149-15154 (1999).
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//