Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome

Table 6 Gene expression in both Family 1 and Family 2

Gene	Function
Gene expression in Family 1
TAAR2	Relevance to brain function and behavior, including schizophrenia, depression, anxiety, and drug addiction
CITED2	Gene is identified in human endothelial cells and neonatal brain. It is implicated in the development of the heart and neural tube
HPRH	Ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. A possible candidate for the tumor suppressor gene
SASH1	Highly expressed in brain, heart, lung, ovary, and kidney. It is also identified as a candidate tumor suppressor gene in breast cancer
DIXDC1	Highly expressed in the brain and in specific brain regions; important in embryonic cortical development
SLC30A9	Shows ubiquitous expression in various human tissues, with high expression in the fetal brain, cerebellum, skeletal muscle, and kidney. Sub-cellular localization studies suggested that it is expressed in the vesicular cytosolic compartment, possibly in the endoplasmic reticulum
Gene expression in Family 2
KMT5A	Is a lysine methyl-transferase that predominantly mono-methylates lysine-20 (K20) of histone H4
SETD8	Influences transcriptional regulation, heterochromatin formation, genomic stability, cell cycle progression, and development
STK36	Important for brain development
PIK3CB	Plays a role in systemic insulin-like growth factor (IGF1) regulation and human longevity
RARRES1	Implicated in hyperproliferation, inflammatory skin diseases and, prostate cancer
GPR149	Increases fertility in mice, and causes prostatic cancer
NOS1	Important for the brain and peripheral nervous system
SBNO1	Implicated in cognition and psychoses, essential roles in vertebrate brain development