Pleckstrin homology-like domain family A member 2 is a protein that in humans is encoded by the PHLDA2gene.[1][2][3]
This gene is one of several genes in the imprinted gene domain of 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Studies of the mouse gene, however, which is also located in an imprinted gene domain, have shown that the product of this gene regulates placental growth.[3]
References
↑Qian N, Frank D, O'Keefe D, Dao D, Zhao L, Yuan L, Wang Q, Keating M, Walsh C, Tycko B (Dec 1997). "The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis". Hum Mol Genet. 6 (12): 2021–9. doi:10.1093/hmg/6.12.2021. PMID9328465.
↑Hu RJ, Lee MP, Connors TD, Johnson LA, Burn TC, Su K, Landes GM, Feinberg AP (Jan 1998). "A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes". Genomics. 46 (1): 9–17. doi:10.1006/geno.1997.4981. PMID9403053.
Feinberg AP (1999). "Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: an introduction". Cancer Res. 59 (7 Suppl): 1743s–1746s. PMID10197590.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Lee MP, Feinberg AP (1998). "Genomic imprinting of a human apoptosis gene homologue, TSSC3". Cancer Res. 58 (5): 1052–6. PMID9500470.
Frank D, Mendelsohn CL, Ciccone E, et al. (2000). "A novel pleckstrin homology-related gene family defined by Ipl/Tssc3, TDAG51, and Tih1: tissue-specific expression, chromosomal location, and parental imprinting". Mamm. Genome. 10 (12): 1150–9. doi:10.1007/s003359901182. PMID10594239.
Müller S, van den Boom D, Zirkel D, et al. (2000). "Retention of imprinting of the human apoptosis-related gene TSSC3 in human brain tumors". Hum. Mol. Genet. 9 (5): 757–63. doi:10.1093/hmg/9.5.757. PMID10749982.
Saxena A, Morozov P, Frank D, et al. (2003). "Phosphoinositide binding by the pleckstrin homology domains of Ipl and Tih1". J. Biol. Chem. 277 (51): 49935–44. doi:10.1074/jbc.M206497200. PMID12374806.
Saxena A, Frank D, Panichkul P, et al. (2004). "The product of the imprinted gene IPL marks human villous cytotrophoblast and is lost in complete hydatidiform mole". Placenta. 24 (8–9): 835–42. doi:10.1016/S0143-4004(03)00130-9. PMID13129680.
Kim HS, Roh CR, Chen B, et al. (2007). "Hypoxia regulates the expression of PHLDA2 in primary term human trophoblasts". Placenta. 28 (2–3): 77–84. doi:10.1016/j.placenta.2006.01.025. PMID16584773.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID16964243.
Apostolidou S, Abu-Amero S, O'Donoghue K, et al. (2007). "Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight". J. Mol. Med. 85 (4): 379–87. doi:10.1007/s00109-006-0131-8. PMID17180344.
Tang KF, Wang Y, Wang P, et al. (2007). "Upregulation of PHLDA2 in Dicer knockdown HEK293 cells". Biochim. Biophys. Acta. 1770 (5): 820–5. doi:10.1016/j.bbagen.2007.01.004. PMID17303335.
