AC T01823
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ID T01823
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DT 17.05.1996 (created); ewi.
DT 25.08.2015 (updated); jmh.
CO Copyright (C), QIAGEN.
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FA pax-2
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SY hPax-2; hPax2; paired box gene 2; PAX2.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G004686 PAX2; HGNC: PAX2.
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CL C0017; paired; 3.2.2.2.1.
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SF comprises a remnant of a homeo domain;
SF similar sequence specificity as Pax-6 [2];
SF as in murine cells, there may be two human splice variants as well [1];
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FF active during mesenchyma to epithelium transition in early kidney development [1];
FF overexpressed in Wilms tumor [1];
FF tumor initiation by inhibiting the p53 transcription [7];
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MX M00098 V$PAX2_01.
MX M00486 V$PAX2_02.
MX M04061 V$PAX2_05.
MX M03839 V$PAX2_Q2.
MX M00808 V$PAX_Q6.
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BS R41515.
BS R67139.
BS R67140.
BS R67141.
BS R69372.
BS R66407.
BS R41347.
BS R41349.
BS R41350.
BS R41351.
BS R40192.
BS R40193.
BS R04731.
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DR TRANSPATH: MO000025957.
DR PATHODB: MT000076.
DR PATHODB: MT000077.
DR PATHODB: MT000078.
DR PATHODB: MT000080.
DR PATHODB: MT000081.
DR PATHODB: MT000082.
DR UniProtKB: Q02962;
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RN [1]; RE0002828.
RX PUBMED: 1311084.
RA Dressler G. R., Douglass E. C.
RT Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor
RL Proc. Natl. Acad. Sci. USA 89:1179-1183 (1992).
RN [2]; RE0002969.
RX PUBMED: 8132558.
RA Epstein J., Cai J., Glaser T., Jepeal L., Maas R.
RT Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes
RL J. Biol. Chem. 269:8355-8361 (1994).
RN [3]; RE0004273.
RX PUBMED: 7981748.
RA Stapleton P., Weith A., Urbanek P., Kozmik Z., Busslinger M.
RT Chromosomal localization of seven PAX genes and cloning of a novel member, PAX-9
RL Nat. Genet. 3:292-298 (1993).
RN [4]; RE0004274.
RX PUBMED: 1378753.
RA Eccles M. R., Wallis L. J., Fidler A. E., Spurr N. K., Goodfellow P. J., Reeve A. E.
RT Expression of the pax2 gene in human fetal kidney and Wilms tumor
RL Cell Growth Differ. 3:279-289 (1992).
RN [5]; RE0004275.
RX PUBMED: 7819127.
RA Ward T. A., Nebel A., Reeve A. E., Eccles M. R.
RT Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene
RL Cell Growth Differ. 5:1015-1021 (1994).
RN [6]; RE0004276.
RX PUBMED: 7795640.
RA Sanyanusin P., Schimmenti L. A., McNoe L. A., Ward T. A., Pierpont M. E., Sullivan M. J., Dobyns W. B., Eccles M. R.
RT Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
RL Nat. Genet. 9:358-364 (1995).
RN [7]; RE0011183.
RX PUBMED: 8521821.
RA Stuart E. T., Haffner R., Oren M., Gruss P.
RT Loss of p53 function through PAX-mediated transcriptional repression
RL EMBO J. 14:5638-5645 (1995).
RN [8]; RE0055037.
RX PUBMED: 18000879.
RA Oeffner F., Moch C., Neundorf A., Hofmann J., Koch M., Grzeschik K. H.
RT Novel interaction partners of Bardet-Biedl syndrome proteins.
RL Cell Motil. Cytoskeleton 65:143-155 (2008).
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