Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 22895
MIM: 612159
HGNC: 17056
Ensembl: ENSG00000089169
Variants:
dbSNP: 22895
ClinVar: 22895
TCGA: ENSG00000089169
COSMIC: RPH3A
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37403762 | 2023 | Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. | 0 |
| 37403762 | 2023 | Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. | 0 |
| 31006500 | 2020 | Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people. | 14 |
| 31924649 | 2020 | Small GTPase ARF6 Is a Coincidence-Detection Code for RPH3A Polarization in Neutrophil Polarization. | 9 |
| 31006500 | 2020 | Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people. | 14 |
| 31924649 | 2020 | Small GTPase ARF6 Is a Coincidence-Detection Code for RPH3A Polarization in Neutrophil Polarization. | 9 |
| 30599141 | 2019 | Grab recruitment by Rab27A-Rabphilin3a triggers Rab3A activation in human sperm exocytosis. | 11 |
| 30599141 | 2019 | Grab recruitment by Rab27A-Rabphilin3a triggers Rab3A activation in human sperm exocytosis. | 11 |
| 28823933 | 2017 | Rabphilin 3A: A novel target for the treatment of levodopa-induced dyskinesias. | 15 |
| 28823933 | 2017 | Rabphilin 3A: A novel target for the treatment of levodopa-induced dyskinesias. | 15 |
| 25919460 | 2015 | Rabphilin-3A as a Targeted Autoantigen in Lymphocytic Infundibulo-neurohypophysitis. | 23 |
| 25919460 | 2015 | Rabphilin-3A as a Targeted Autoantigen in Lymphocytic Infundibulo-neurohypophysitis. | 23 |
| 24200817 | 2014 | Decreased rabphilin 3A immunoreactivity in Alzheimer's disease is associated with Aβ burden. | 18 |
| 24200817 | 2014 | Decreased rabphilin 3A immunoreactivity in Alzheimer's disease is associated with Aβ burden. | 18 |
| 24302762 | 2013 | Structural insights into the Ca2+ and PI(4,5)P2 binding modes of the C2 domains of rabphilin 3A and synaptotagmin 1. | 35 |
Citation
Dessen P
RPH3A (rabphilin 3A)
Atlas Genet Cytogenet Oncol Haematol. 2007-12-01
Online version: http://atlasgeneticsoncology.org/gene/49943/rph3a-(rabphilin-3a)
