APPL2
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Summary
The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777772134 | 12:105,568,100 | C/T | — | uncertain significance |
| rs149610989 | 12:105,568,139 | C/T | — | likely benign |
| rs377182486 | 12:105,569,830 | T/G | — | uncertain significance |
| rs1886907014 | 12:105,582,104 | A/T | — | uncertain significance |
| rs140290194 | 12:105,582,127 | C/A | — | uncertain significance |
| rs145831831 | 12:105,582,138 | G/A | — | uncertain significance |
| rs144240861 | 12:105,582,195 | C/T | — | uncertain significance |
| rs200469851 | 12:105,582,216 | A/C | — | uncertain significance |
| rs2499634028 | 12:105,583,575 | C/T | — | likely benign |
| rs1436472845 | 12:105,583,587 | A/C | — | uncertain significance |
| rs139106853 | 12:105,583,601 | G/A | missense variant | uncertain significance |
| rs1419754582 | 12:105,583,838 | G/A | — | uncertain significance |
| rs149910163 | 12:105,583,841 | G/A | — | uncertain significance |
| rs562507472 | 12:105,583,842 | C/T | — | uncertain significance |
| rs779456671 | 12:105,583,853 | T/C | — | uncertain significance |
| rs2272495 | 12:105,583,877 | G/A | missense variant | — |
| rs144982082 | 12:105,589,051 | C/G | — | uncertain significance |
| rs769306446 | 12:105,589,075 | G/A | — | uncertain significance |
| rs2499661463 | 12:105,589,110 | C/G | — | uncertain significance |
| rs146420641 | 12:105,591,558 | G/A | — | uncertain significance |
| rs375370729 | 12:105,591,584 | G/C | — | uncertain significance |
| rs755862072 | 12:105,591,616 | T/C | — | uncertain significance |
| rs1480284909 | 12:105,591,672 | T/G | — | uncertain significance |
| rs746555689 | 12:105,593,239 | C/G | — | uncertain significance |
| rs751899426 | 12:105,597,555 | A/T | — | uncertain significance |
| rs2499751918 | 12:105,600,859 | T/A | — | likely benign |
| rs1228739505 | 12:105,600,931 | A/G | — | uncertain significance |
| rs1326137980 | 12:105,600,957 | G/C | — | uncertain significance |
| rs764530941 | 12:105,600,974 | T/G | — | uncertain significance |
| rs1888908540 | 12:105,601,937 | A/C | — | uncertain significance |
| rs202080524 | 12:105,601,945 | C/T | — | uncertain significance |
| rs1196752 | 12:105,602,253 | G/A | intron variant | — |
| rs779479228 | 12:105,605,025 | C/T | — | uncertain significance |
| rs1196764 | 12:105,608,316 | A/C | — | — |
| rs150695109 | 12:105,622,913 | T/C | — | uncertain significance |
| rs149470075 | 12:105,622,919 | C/T | — | uncertain significance |
| rs781732102 | 12:105,622,953 | C/G | — | uncertain significance |
| rs143353224 | 12:105,622,983 | C/T | — | uncertain significance |
| rs2499932087 | 12:105,629,772 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.