TRANSFAC FACTOR TABLE, Release 2017.2 - public - 2017-06-30, (C) QIAGEN

AC T02413 XX ID T02413 XX DT 16.04.1998 (created); ewi. DT 25.05.2016 (updated); nes. CO Copyright (C), QIAGEN. XX FA pitx2 XX 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. XX OS human, Homo sapiens OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates XX GE G002665 PITX2; HGNC: Pitx2. XX HO bicoid. XX CL C0006; homeo; XX 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]; XX EX muscles,,,adult; detectable; RT-PCR; RNA (undefined); [4]. XX 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]; XX IN T01696 HOXA1; mouse, Mus musculus. IN T10042 Pit-1; Mammalia. IN T00691 Pit-1A; rat, Rattus norvegicus. XX 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. XX BS R36735. BS R36808. BS R36739. XX DR TRANSPATH: MO000026400. DR UniProtKB: Q99697; XX 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). XX //