ASAP2
ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
Summary
This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140100102 | 2:9,347,325 | C/T | — | uncertain significance |
| rs35357758 | 2:9,419,454 | C/T | — | benign |
| rs199504138 | 2:9,437,479 | G/A | — | uncertain significance |
| rs780655052 | 2:9,458,674 | A/G | — | uncertain significance |
| rs72775219 | 2:9,469,252 | G/A | intron variant | — |
| rs1051207873 | 2:9,475,285 | G/A | — | uncertain significance |
| rs771627102 | 2:9,496,414 | A/G | — | uncertain significance |
| rs138272038 | 2:9,496,439 | C/T | — | uncertain significance |
| rs34052263 | 2:9,496,449 | C/T | — | benign |
| rs780512938 | 2:9,498,906 | A/G | — | uncertain significance |
| rs759254805 | 2:9,508,593 | A/G | — | uncertain significance |
| rs918661389 | 2:9,508,627 | A/G | — | uncertain significance |
| rs748276692 | 2:9,514,887 | T/G | — | uncertain significance |
| rs201505810 | 2:9,514,933 | G/T | — | uncertain significance |
| rs377096338 | 2:9,514,945 | C/T | — | uncertain significance |
| rs568744068 | 2:9,514,957 | G/A | — | uncertain significance |
| rs373037678 | 2:9,514,980 | C/T | — | likely benign |
| rs759964900 | 2:9,514,985 | C/T | — | uncertain significance |
| rs370967927 | 2:9,514,987 | G/A | — | uncertain significance |
| rs752933805 | 2:9,514,994 | C/T | — | uncertain significance |
| rs757258595 | 2:9,515,002 | A/G | — | uncertain significance |
| rs143304380 | 2:9,515,021 | C/T | — | uncertain significance |
| rs772719724 | 2:9,515,038 | G/A | — | uncertain significance |
| rs1009077989 | 2:9,515,039 | A/G | — | uncertain significance |
| rs767875142 | 2:9,515,052 | A/T | — | uncertain significance |
| rs2529744824 | 2:9,515,062 | G/A | — | uncertain significance |
| rs752573155 | 2:9,517,044 | A/G | — | uncertain significance |
| rs34464740 | 2:9,517,066 | A/G | — | benign |
| rs2529804641 | 2:9,519,125 | T/C | — | uncertain significance |
| rs763984768 | 2:9,519,141 | C/T | — | uncertain significance |
| rs750088370 | 2:9,519,164 | C/T | — | uncertain significance |
| rs369188848 | 2:9,520,881 | G/A | — | uncertain significance |
| rs1382330988 | 2:9,520,918 | A/G | — | uncertain significance |
| rs377423224 | 2:9,525,389 | T/C | — | uncertain significance |
| rs141891003 | 2:9,525,398 | T/C | — | uncertain significance |
| rs539938494 | 2:9,525,399 | T/A | — | uncertain significance |
| rs1675445578 | 2:9,528,424 | C/T | — | uncertain significance |
| rs372277363 | 2:9,528,435 | C/T | — | uncertain significance |
| rs754786610 | 2:9,528,436 | G/A | — | uncertain significance |
| rs150928429 | 2:9,528,446 | C/G | — | uncertain significance |
| rs147939174 | 2:9,528,447 | C/T | — | uncertain significance |
| rs201291876 | 2:9,528,495 | G/A | — | uncertain significance |
| rs746320644 | 2:9,528,568 | A/T | — | uncertain significance |
| rs760971797 | 2:9,528,582 | G/A | — | uncertain significance |
| rs766345147 | 2:9,531,257 | G/A | — | uncertain significance |
| rs761661220 | 2:9,531,263 | G/A | — | uncertain significance |
| rs762599531 | 2:9,531,271 | T/A | — | uncertain significance |
| rs374621495 | 2:9,531,286 | G/A | — | uncertain significance |
| rs546165553 | 2:9,531,304 | C/G | — | uncertain significance |
| rs2530051971 | 2:9,533,619 | A/G | — | likely benign |
| rs1572628200 | 2:9,533,625 | A/C | — | uncertain significance |
| rs372781516 | 2:9,533,637 | C/T | — | uncertain significance |
| rs778807638 | 2:9,533,657 | C/G | — | uncertain significance |
| rs145511943 | 2:9,533,695 | C/T | — | benign |
| rs199777278 | 2:9,533,715 | A/G | — | uncertain significance |
| rs201853311 | 2:9,533,718 | C/T | — | uncertain significance |
| rs546453649 | 2:9,533,725 | C/T | — | uncertain significance |
| rs370099908 | 2:9,533,755 | C/T | — | uncertain significance |
| rs763711331 | 2:9,540,874 | A/T | — | uncertain significance |
| rs774160777 | 2:9,540,934 | C/A | — | uncertain significance |
| rs749068561 | 2:9,543,445 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.