| Entrez Gene ID | 55291 |
|---|---|
| Official Gene Symbol | PPP6R3 (GeneCards) |
| Full name | protein phosphatase 6 regulatory subunit 3 |
| Location | 11q13.2 |
| Other ids | Vega : OTTHUMG00000167596 MIM : 610879 HGNC : HGNC:1173 Ensembl : ENSG00000110075 |
| Other names | SAPL, PP6R3, SAPLa, SAPS3, SAP190, C11orf23 |
| Summary | Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] |
Found 7 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1520 | 55291 | PPP6R3 | 11 | 68305223 | 68305223 | Autism Spectrum Disorders | Hiseq |
| 14982 | 55291 | PPP6R3 | 11 | 68388443 | 68388443 | Asymptomatic | Hiseq HiSeq X Ten |
| 15727 | 55291 | PPP6R3 | 11 | 68375398 | 68375398 | Asymptomatic | Hiseq HiSeq X Ten |
| 16020 | 55291 | PPP6R3 | 11 | 68302773 | 68302773 | Xeroderma Pigmentosum | Hiseq HiSeq X Ten |
| 23583 | 55291 | PPP6R3 | 11 | 68431302 | 68431302 | Asymptomatic | Hiseq HiSeq X Ten Single cell Sequencing Cell cloning |
| 27320 | 55291 | PPP6R3 | 11 | 68414752 | 68414752 | Asymptomatic | Hiseq HiSeq X Ten Single cell Sequencing Cell cloning |
| 34494 | 55291 | PPP6R3 | 11 | 68345490 | 68345490 | Asymptomatic | Hiseq HiSeq X Ten Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing |