BAIAP2L1
BAR/IMD domain containing adaptor protein 2 like 1
Summary
This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1800082754 | 7:97,923,404 | G/A | — | uncertain significance |
| rs763359639 | 7:97,933,557 | G/A | — | uncertain significance |
| rs896193988 | 7:97,933,566 | G/A | — | uncertain significance |
| rs146759713 | 7:97,933,580 | G/T | — | uncertain significance |
| rs199846779 | 7:97,933,582 | C/T | — | uncertain significance |
| rs539226207 | 7:97,933,583 | G/A | — | likely benign |
| rs763264973 | 7:97,933,623 | G/T | — | uncertain significance |
| rs138915707 | 7:97,933,648 | C/T | — | uncertain significance |
| rs754304518 | 7:97,933,660 | C/T | — | uncertain significance |
| rs1421884968 | 7:97,935,766 | G/T | — | uncertain significance |
| rs768990780 | 7:97,935,802 | G/A | — | uncertain significance |
| rs1266683120 | 7:97,937,007 | G/C | — | uncertain significance |
| rs147254651 | 7:97,937,012 | G/T | — | uncertain significance |
| rs371521644 | 7:97,937,014 | C/T | — | uncertain significance |
| rs778447462 | 7:97,937,096 | C/A | — | uncertain significance |
| rs2535070194 | 7:97,937,166 | G/A | — | uncertain significance |
| rs2535070281 | 7:97,937,178 | G/A | — | uncertain significance |
| rs760386510 | 7:97,939,856 | G/A | — | uncertain significance |
| rs2535089152 | 7:97,941,461 | G/A | — | uncertain significance |
| rs759479268 | 7:97,941,473 | G/T | — | uncertain significance |
| rs962262018 | 7:97,941,486 | C/T | — | uncertain significance |
| rs1351951784 | 7:97,941,502 | T/G | — | uncertain significance |
| rs369904739 | 7:97,941,545 | C/T | — | uncertain significance |
| rs144139913 | 7:97,944,788 | T/C | — | uncertain significance |
| rs760555411 | 7:97,944,830 | C/G | — | uncertain significance |
| rs756624211 | 7:97,944,896 | C/G | — | uncertain significance |
| rs748817830 | 7:97,944,902 | C/T | — | uncertain significance |
| rs372261639 | 7:97,944,921 | C/T | — | uncertain significance |
| rs140166928 | 7:97,946,565 | C/T | — | uncertain significance |
| rs369919591 | 7:97,949,598 | A/C | — | uncertain significance |
| rs7807555 | 7:97,957,517 | G/A | downstream gene variant | — |
| rs1688606 | 7:97,974,851 | G/A | regulatory region variant | — |
| rs146904308 | 7:97,984,389 | T/A | — | uncertain significance |
| rs3779195 | 7:97,993,362 | T/A | intron variant | — |
| rs1635612 | 7:98,015,049 | G/T | — | — |
| rs6465681 | 7:98,016,246 | C/T | upstream gene variant | — |
| rs9649213 | 7:98,021,211 | A/G | intron variant | — |
| rs1481962770 | 7:98,030,138 | G/C | — | uncertain significance |
| rs768106761 | 7:98,030,144 | C/G | — | uncertain significance |
| rs62478236 | 7:98,030,377 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.