| Human | GNA13 | 10672 | guanine nucleotide binding protein (G protein), alpha 13 | Several features of a typical alpha/RGS interaction are preserved in the alpha(13)/p115RhoGEF interaction |
| Human | RGS6 | 9628 | regulator of G-protein signaling 6 | RGS6 is the first member of the RGS protein family shown to interact with proteins involved in transcriptional regulation |
| Human | RGS5 | 8490 | regulator of G-protein signaling 5 | Elevated levels of RGS-5 in pericytes are also observed during wound healing and ovulation indicating a strong correlation between RGS-5 expression and active vessel remodeling |
| Human | WHSC1 | 7468 | Wolf-Hirschhorn syndrome candidate 1 | |
| Human | RGS16 | 6004 | regulator of G-protein signaling 16 | RGS16 inhibits G alpha 13-mediated, RhoA-dependent reversal of stellation and Serum Response Element activation, thus regulating G alpha 13-mediated signal transduction independently of the RGS box results suggest that palmitoylation of a Cys residue in the regulator of G protein signaling(RGS) box is critical for RGS16 and RGS4 GAPase activating protein activity and their ability to regulate G protein signaling in mammalian cells |
| Human | RGS4 | 5999 | regulator of G-protein signaling 4 | results suggest that palmitoylation of a Cys residue in the regulator of G protein signaling(RGS) box is critical for RGS16 and RGS4 GAPase activating protein activity and their ability to regulate G protein signaling in mammalian cells |
| Human | RGS2 | 5997 | regulator of G-protein signaling 2, 24kDa | TSH-dependent RGS 2 mRNA expression and the suppression of TSH-G(q)alpha signaling by the overexpression of RGS 2 imply that RGS 2 is involved in TSHR-induced G(q) signal transduction Silencing RGS-2 in Bartters syndrome/Gitelman's syndrome patients increased Ang II-induced Cai2+ release and signaling in silenced cells compared with not silenced cells |
| Human | PITX3 | 5309 | paired-like homeodomain 3 | ? same as Rieger syndrome (180500) |
| Human | PITX2 | 5308 | paired-like homeodomain 2 | This is the first structure of a native lysine50 class homeodomain; analysis of PITX2 residues mutated in Rieger syndrome indicates that many of these residues are involved in DNA binding, while others are involved in formation of the hydrophobic core oligodontia of Rieger syndrome of Chinese family linked to mutation Gene analysis revealed a novel PITX2 mutation and a polymorphism in a family with Axenfeld-Rieger anomaly or syndrome and Fuchs' endothelial dystrophy Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome The findings in the present study clearly demonstrate that FOXC1 and PITX2 mutations are responsible for a significant proportion of Axenfeld-Rieger malformations in Germany |
| Human | MYOC | 4653 | myocilin, trabecular meshwork inducible glucocorticoid response | ? distinct from Rieger syndrome |
| Human | LMX1B | 4010 | LIM homeobox transcription factor 1, beta | ? distinct from Rieger syndrome |
| Human | HRH1 | 3269 | histamine receptor H1 | rapid termination of H1HR signaling is mediated by both the kinase activity and RGS function of GRK2 |
| Human | FOXE3 | 2301 | forkhead box E3 | ? same as Rieger syndrome (180500) |
| Human | FOXC1 | 2296 | forkhead box C1 | ? allelic with Rieger syndrome in Axenfeld-Rieger anomaly, a T-->C transition, is predicted to result in a change of isoleucine to threonine (Ile9lThr) in a highly conserved location within the first helix of the forkhead domain |
| Human | ENPEP | 2028 | glutamyl aminopeptidase (aminopeptidase A) | Rieger syndrome with microdeletions including only the PITX2 and ENPEP (glutamyl aminopeptidase) genes |
| Human | CYP1B1 | 1545 | cytochrome P450, family 1, subfamily B, polypeptide 1 | ? distinct from Rieger syndrome |
| Human | ADRBK1 | 156 | adrenergic, beta, receptor kinase 1 | role in terminating histamine H1 receptor singnaling by the kinase activity and RGS function of GRK2 |
