SORBS2
sorbin and SH3 domain containing 2
Summary
Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants87 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143581306 | 4:186,508,808 | G/T | — | uncertain significance |
| rs112158586 | 4:186,508,820 | G/T | — | uncertain significance |
| rs747632426 | 4:186,510,845 | C/T | — | uncertain significance |
| rs558697505 | 4:186,515,047 | C/G | — | uncertain significance |
| rs141463006 | 4:186,515,050 | C/A | — | uncertain significance |
| rs531741013 | 4:186,532,973 | G/C | — | uncertain significance |
| rs764912020 | 4:186,532,981 | G/T | — | uncertain significance |
| rs2096543583 | 4:186,532,990 | G/A | — | uncertain significance |
| rs779343202 | 4:186,533,029 | C/T | — | likely benign |
| rs1477606641 | 4:186,533,119 | G/T | — | uncertain significance |
| rs370160757 | 4:186,536,204 | C/T | — | uncertain significance |
| rs2096607593 | 4:186,536,230 | C/T | — | uncertain significance |
| rs2096607773 | 4:186,536,248 | T/A | — | uncertain significance |
| rs144963020 | 4:186,541,240 | T/C | — | uncertain significance |
| rs2480362535 | 4:186,541,249 | G/C | — | uncertain significance |
| rs2480363303 | 4:186,541,261 | C/A | — | uncertain significance |
| rs368046187 | 4:186,541,302 | C/T | — | likely benign |
| rs142088622 | 4:186,544,109 | T/C | — | likely benign |
| rs2480529442 | 4:186,544,119 | C/T | — | uncertain significance |
| rs2480529886 | 4:186,544,124 | T/C | — | uncertain significance |
| rs150355195 | 4:186,544,154 | C/A | — | uncertain significance |
| rs946522222 | 4:186,544,229 | C/A | — | uncertain significance |
| rs376831365 | 4:186,544,241 | G/A | — | uncertain significance |
| rs371176235 | 4:186,544,251 | A/G | — | uncertain significance |
| rs561155809 | 4:186,544,266 | G/T | — | uncertain significance |
| rs369691017 | 4:186,544,269 | C/T | — | likely benign |
| rs747340627 | 4:186,544,325 | C/T | — | uncertain significance |
| rs774164981 | 4:186,544,364 | T/C | — | uncertain significance |
| rs1561475821 | 4:186,544,368 | G/A | — | uncertain significance |
| rs544237966 | 4:186,544,401 | T/C | — | uncertain significance |
| rs748581235 | 4:186,544,438 | A/T | — | uncertain significance |
| rs2480557302 | 4:186,544,483 | T/G | — | uncertain significance |
| rs760601599 | 4:186,544,514 | C/T | — | uncertain significance |
| rs778250705 | 4:186,544,591 | C/A | — | uncertain significance |
| rs768602914 | 4:186,544,617 | G/A | — | uncertain significance |
| rs562339021 | 4:186,544,622 | T/C | — | uncertain significance |
| rs2480573699 | 4:186,544,661 | C/G | — | uncertain significance |
| rs147295381 | 4:186,544,760 | A/G | — | uncertain significance |
| rs536422954 | 4:186,544,782 | C/T | — | uncertain significance |
| rs547834409 | 4:186,544,884 | G/A | — | uncertain significance |
| rs148423116 | 4:186,544,972 | G/A | — | benign |
| rs2480601853 | 4:186,545,014 | C/A | — | uncertain significance |
| rs2480607819 | 4:186,545,094 | A/G | — | uncertain significance |
| rs1250007013 | 4:186,545,120 | T/G | — | uncertain significance |
| rs758717559 | 4:186,545,219 | T/C | — | uncertain significance |
| rs145475159 | 4:186,545,289 | G/A | — | uncertain significance |
| rs1436031478 | 4:186,545,300 | G/A | — | uncertain significance |
| rs1377337782 | 4:186,545,304 | C/T | — | uncertain significance |
| rs574188428 | 4:186,545,343 | A/G | — | uncertain significance |
| rs61736043 | 4:186,545,346 | A/T | — | benign |
| rs2096771521 | 4:186,545,402 | T/C | — | uncertain significance |
| rs2480632117 | 4:186,545,429 | G/A | — | uncertain significance |
| rs2480633412 | 4:186,545,460 | T/C | — | uncertain significance |
| rs1031340076 | 4:186,545,525 | G/A | — | uncertain significance |
| rs546489787 | 4:186,545,590 | G/T | — | uncertain significance |
| rs2480643764 | 4:186,545,604 | C/A | — | uncertain significance |
| rs774398814 | 4:186,545,629 | T/C | — | likely benign |
| rs1802262 | 4:186,548,011 | A/T | — | benign |
| rs1483779596 | 4:186,548,045 | C/G | — | uncertain significance |
| rs376521033 | 4:186,548,066 | C/T | — | uncertain significance |
| rs149162865 | 4:186,548,087 | G/A | — | likely benign |
| rs748484228 | 4:186,548,109 | G/A | — | uncertain significance |
| rs760948713 | 4:186,570,636 | C/T | — | uncertain significance |
| rs749969599 | 4:186,570,654 | G/A | — | uncertain significance |
| rs113864748 | 4:186,570,678 | G/A | — | uncertain significance |
| rs150021786 | 4:186,570,686 | C/T | — | benign |
| rs769506088 | 4:186,570,799 | G/C | — | uncertain significance |
| rs201130574 | 4:186,572,943 | T/C | — | uncertain significance |
| rs146734973 | 4:186,572,982 | T/C | — | uncertain significance |
| rs61732192 | 4:186,573,817 | C/T | — | benign |
| rs2482138341 | 4:186,573,831 | T/C | — | uncertain significance |
| rs1415028076 | 4:186,573,864 | C/G | — | uncertain significance |
| rs140939381 | 4:186,578,596 | G/A | — | likely benign |
| rs756045058 | 4:186,578,601 | C/T | — | uncertain significance |
| rs926618622 | 4:186,578,723 | G/A | — | uncertain significance |
| rs79798631 | 4:186,580,657 | A/G | intron variant | — |
| rs139155954 | 4:186,583,269 | C/T | — | uncertain significance |
| rs141720156 | 4:186,583,270 | C/T | — | uncertain significance |
| rs563735895 | 4:186,587,225 | T/C | — | likely benign |
| rs568100104 | 4:186,588,644 | C/T | — | — |
| rs4466086 | 4:186,607,514 | T/A | intron variant | — |
| rs4376189 | 4:186,612,675 | G/C | — | — |
| rs139000353 | 4:186,711,335 | C/T | intron variant | — |
| rs10021308 | 4:186,716,984 | G/C | — | — |
| rs12511831 | 4:186,742,784 | A/T | — | — |
| rs7654779 | 4:186,782,571 | A/T | — | — |
| rs74520673 | 4:186,867,596 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.