DAB2
DAB adaptor protein 2
Summary
This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs759746894 | 5:39,375,143 | G/A | — | uncertain significance |
| rs903537179 | 5:39,375,148 | C/T | — | likely benign |
| rs1754791312 | 5:39,375,156 | T/A | — | uncertain significance |
| rs780725881 | 5:39,376,101 | A/G | — | uncertain significance |
| rs1754840193 | 5:39,376,859 | C/G | — | uncertain significance |
| rs200943679 | 5:39,376,884 | G/C | — | uncertain significance |
| rs199699595 | 5:39,376,887 | C/T | — | uncertain significance |
| rs762386373 | 5:39,376,892 | A/C | — | uncertain significance |
| rs2479224234 | 5:39,376,941 | C/A | — | uncertain significance |
| rs373247068 | 5:39,376,993 | G/C | — | uncertain significance |
| rs750353876 | 5:39,377,053 | G/C | — | uncertain significance |
| rs749545165 | 5:39,377,075 | G/T | — | uncertain significance |
| rs1432827000 | 5:39,377,119 | C/A | — | uncertain significance |
| rs75610108 | 5:39,377,130 | T/C | — | benign |
| rs376782436 | 5:39,377,160 | C/T | — | uncertain significance |
| rs61755342 | 5:39,377,259 | C/T | — | benign |
| rs2479225292 | 5:39,377,274 | C/T | — | uncertain significance |
| rs374863362 | 5:39,377,302 | C/T | — | likely benign |
| rs2479225358 | 5:39,377,303 | G/A | — | uncertain significance |
| rs376876328 | 5:39,377,306 | G/A | — | likely benign |
| rs144488744 | 5:39,377,320 | C/G | — | likely benign |
| rs145194026 | 5:39,377,375 | G/A | — | benign |
| rs147190570 | 5:39,381,577 | C/T | — | uncertain significance |
| rs755764497 | 5:39,382,755 | T/A | — | uncertain significance |
| rs148242258 | 5:39,382,773 | T/C | — | likely benign |
| rs201357764 | 5:39,382,787 | T/C | — | uncertain significance |
| rs764745349 | 5:39,383,004 | G/A | — | uncertain significance |
| rs1182217684 | 5:39,383,027 | T/C | — | uncertain significance |
| rs767671016 | 5:39,383,037 | A/G | — | uncertain significance |
| rs145888939 | 5:39,383,058 | G/A | — | uncertain significance |
| rs2479236150 | 5:39,383,061 | C/A | — | uncertain significance |
| rs371072259 | 5:39,383,139 | G/T | — | uncertain significance |
| rs267600626 | 5:39,383,144 | G/A | — | uncertain significance |
| rs139705821 | 5:39,383,160 | T/G | — | uncertain significance |
| rs34167601 | 5:39,383,173 | A/G | — | benign |
| rs79344176 | 5:39,383,175 | G/A | — | benign |
| rs2479236512 | 5:39,383,190 | T/C | — | uncertain significance |
| rs747824238 | 5:39,383,261 | C/T | — | uncertain significance |
| rs74808556 | 5:39,388,413 | A/G | — | benign |
| rs146626907 | 5:39,388,416 | A/G | — | benign |
| rs761105526 | 5:39,388,417 | T/C | — | uncertain significance |
| rs1561369786 | 5:39,388,433 | T/C | — | uncertain significance |
| rs140161347 | 5:39,388,465 | A/T | — | uncertain significance |
| rs142458969 | 5:39,388,908 | A/G | — | uncertain significance |
| rs376030206 | 5:39,388,949 | C/T | — | likely benign |
| rs186509864 | 5:39,388,963 | A/T | — | benign |
| rs771339751 | 5:39,389,192 | A/G | — | likely benign |
| rs2479246528 | 5:39,389,216 | C/T | — | uncertain significance |
| rs67066752 | 5:39,389,811 | G/A | intron variant | — |
| rs2479248550 | 5:39,389,959 | T/A | — | uncertain significance |
| rs573228910 | 5:39,390,005 | G/T | — | uncertain significance |
| rs2479248763 | 5:39,390,022 | C/A | — | uncertain significance |
| rs762896206 | 5:39,390,557 | T/A | — | uncertain significance |
| rs2479250173 | 5:39,390,585 | T/G | — | uncertain significance |
| rs2479250235 | 5:39,390,611 | C/A | — | uncertain significance |
| rs1755202793 | 5:39,390,635 | C/A | — | uncertain significance |
| rs147809840 | 5:39,392,530 | G/A | — | likely benign |
| rs753056299 | 5:39,392,565 | C/G | — | uncertain significance |
| rs2479257761 | 5:39,394,358 | G/T | — | uncertain significance |
| rs2255280 | 5:39,394,989 | C/G | — | — |
| rs11959928 | 5:39,397,132 | T/A | intron variant | — |
| rs35969577 | 5:39,401,384 | G/A | — | — |
| rs11951093 | 5:39,421,736 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.