| Variant ID | 12108 |
|---|---|
| Entrez Gene ID | 80243 |
| Gene | PREX2 (GeneCards) |
| Location | hg19 8:68910629-68910629
hg38 8:67998394-67998394 |
| Disease | |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.68910629 T>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0136 |
| CADD Raw score (version 1.3) | 0.374216 (Deleterious) |
| FATHMM raw prediction score | 0.10334 (Tolerated) |
| Deleterious probability by DeFine | 0.381 (Neutral) |
| Entrez Gene ID | 80243 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PREX2 (GeneCards) |
| Number of variants in PREX2 in this database | 98 (view all the variants) |
| Full name | phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 |
| Band | 8q13.2 |
| Other IDs | Vega: OTTHUMG00000164402 OMIM: 612139 HGNC: HGNC:22950 Ensembl: ENSG00000046889 |
| Other names | DEP.2, DEPDC2, P-REX2, PPP1R129 |
| Summary | The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016] |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |