AC T02413
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ID T02413
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DT 16.04.1998 (created); ewi.
DT 25.05.2016 (updated); nes.
CO Copyright (C), QIAGEN.
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FA pitx2
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SY ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; MGC111022; MGC20144; Otlx-2; Otlx2; paired-like homeodomain 2; paired-like homeodomain transcription factor 2; Pitx-2; Pitx2; Ptx-2; Ptx2; RGS; RIEG; RIEG1; RS.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G002665 PITX2; HGNC: Pitx2.
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HO bicoid.
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CL C0006; homeo; 3.1.3.19.2.
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SF POU1F1 (Pit-1) T00691 physically interacts with pitx2 to facilitate DNA binding [2];
SF mutant pitx2 (T68P) has reduced DNA binding specificity, lacks transactivation activity [2];
SF mutant pitx2 (L54Q) is an unstable protein [2];
SF C-terminus represses binding activity and formation of homodimers which can be overcome by interaction with POU1F1 (Pit-1) T00691 [3];
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EX muscles,,,adult; detectable; RT-PCR; RNA (undefined); [4].
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FF mutations cause Rieger syndrome (ocular anterior chamber anomalies causing glaucoma, dental hypoplasia, mild craniofacial dysmorphism, umbilical stump abnormalities, abnormal cardiac, limb and pituitary development) [1];
FF activator, interacts with POUF1 (Pit-1) T00691 to synergistically transactivate the prolactin gene promoter [2] [3];
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IN T01696 HOXA1; mouse, Mus musculus.
IN T10042 Pit-1; Mammalia.
IN T00691 Pit-1A; rat, Rattus norvegicus.
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MX M01447 V$PITX2_01.
MX M00482 V$PITX2_Q2.
MX M07056 V$PITX2_Q4.
MX M02114 V$PITX2_Q6.
MX M08895 V$PITX_Q4.
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BS R36735.
BS R36808.
BS R36739.
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DR TRANSPATH: MO000026400.
DR UniProtKB: Q99697;
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RN [1]; RE0006808.
RX PUBMED: 8944018.
RA Semina E. V., Reiter R., Leysens N. J., Alward W. L. M., Small K. W., Datson N. A., Siegle-Bartelt J., Bierke-Nelson D., Bitoun P., Zabel B. U., Carey J. C., Murray J. C.
RT Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
RL Nat. Genet. 14:392-399 (1996).
RN [2]; RE0016332.
RX PUBMED: 9685346.
RA Amendt B. A., Sutherland L. B., Semina E. V., Russo A. F.
RT The molecular basis of Rieger Syndrome
RL J. Biol. Chem. 273:20066-20072 (1998).
RN [3]; RE0016846.
RX PUBMED: 10490637.
RA Amendt B. A., Sutherland L. B., Russo A. F.
RT Multifunctional role of the Pitx2 homeodomain protein C-terminal tail.
RL Mol. Cell. Biol. 19:7001-7010 (1999).
RN [4]; RE0016847.
RX PUBMED: 11157981.
RA Hjalt T. A., Amendt B. A., Murray J. C.
RT PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome
RL J. Cell Biol. 152:545-552 (2001).
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