Table 1.
Top 10 genes differentially regulated by E2 in PMDD.
| Gene | Name | Descriptiona | logCPM | F | P-Val |
|---|---|---|---|---|---|
| NUCB1 | Nucleobindin 1 | Member of a small calcium-binding EF-hand protein family. Thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction. | 5.31 | 28.99 | 4.28E-05 |
| DST | Dystonin | Member of the plakin protein family of adhesion junction plaque proteins. Some isoforms expressed in neural and muscle tissue, anchoring neural intermediate filaments to actin. | 8.52 | 24.13 | 1.17E-04 |
| MDH2 | Malate Dehydrogenase 2 | Mitochondrial enzyme catalyzing the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system. | 7.49 | 23.07 | 1.48E-04 |
| PPP2R5D | Protein Phosphatase 2 Regulatory Subunit B’Delta | Belongs to the phosphatase 2 A regulatory subunit B family. One of the four major Ser/Thr phosphatases. Implicated in the negative control of cell growth and division. Cause of autosomal dominant intellectual disability. | 4.61 | 22.27 | 1.78E-04 |
| DHCR7 | 7-Dehydrocholesterol Reductase | Catalyzes the conversion of 7-dehydrocholesterol to cholesterol. Localizes to the ER membrane and nuclear outer membrane. Associated with Smith–Lemli–Opitz syndrome. | 4.91 | 21.95 | 1.91E-04 |
| GCC2 | GRIP and Coiled-Coil Domain Containing 2 | Peripheral membrane protein localized to the trans-Golgi network. Contains a GRIP domain thought to be used in Golgi targeting. | 7.05 | 21.56 | 2.09E-04 |
| GOLGB1 | Golgin B1 | May participate in intercisternal cross-bridges of the Golgi complex. | 7.28 | 20.57 | 2.65E-04 |
| GPI | Glucose-6-Phosphate Isomerase | Interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, promotes survival of skeletal motor neurons and sensory neurons, and is a lymphokine inducing immunoglobulin secretion. | 8.22 | 20.29 | 2.84E-04 |
| PTP4A3 | Protein-Tyrosine Phosphatase 4a3 | Member of the protein-tyrosine phosphatase family. Enhances cell proliferation, motility, and promotes cancer metastasis. May be involved in the progression of cardiac hypertrophy by inhibiting intracellular calcium mobilization. | 4.99 | 20.26 | 2.86E-04 |
| SLC35A4 | Solute Carrier 35A4 | Probable UDP-sugar transporter protein. Paralog of SLC35A2, which transports UDP-galactose into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. | 5.2 | 19.87 | 3.15E-04 |
Top 10 most significant EdgeR genes differentially regulated by E2 in PMDD. Genes related to intracellular calcium homeostasis, the Golgi–ER compartment, and the ER stress response are bolded (NUCB1, DST, GCC2, GOLGB1). Nominal P values are reported. All top 10 genes had a FDR < 0.25. Complete statistics are listed in Supplemental Table S4.
aGene descriptions are abstracted from Entrez, GeneCards, UniProtKB entries listed on genecards.org.