ANO3
anoctamin 3
Summary
The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Known Variants435 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1363067375 | 11:26,210,769 | T/C | — | uncertain significance |
| rs759498297 | 11:26,210,827 | C/G | — | likely benign |
| rs142108391 | 11:26,216,166 | G/T | — | — |
| rs76938497 | 11:26,220,945 | C/T | regulatory region variant | — |
| rs74707852 | 11:26,226,995 | A/T | intron variant | — |
| rs189719711 | 11:26,341,858 | C/T | intron variant | — |
| rs16915482 | 11:26,353,437 | C/G | — | benign |
| rs1531395 | 11:26,353,561 | T/C | — | benign |
| rs1531394 | 11:26,353,643 | T/A | — | benign |
| rs114059269 | 11:26,353,680 | G/A | — | likely benign |
| rs149195780 | 11:26,353,769 | C/T | — | likely benign |
| rs17243252 | 11:26,353,811 | T/C | — | benign |
| rs750220809 | 11:26,353,832 | C/A | — | uncertain significance |
| rs951443822 | 11:26,353,834 | T/C | — | likely benign |
| rs762765259 | 11:26,353,839 | G/T | — | uncertain significance |
| rs2494346251 | 11:26,353,868 | G/T | — | uncertain significance |
| rs2494346270 | 11:26,353,871 | C/T | — | uncertain significance |
| rs17243259 | 11:26,353,951 | T/G | — | benign |
| rs199705068 | 11:26,463,455 | G/C | — | likely benign |
| rs1408780131 | 11:26,463,465 | G/T | — | uncertain significance |
| rs374120345 | 11:26,463,505 | G/C | — | likely benign |
| rs373387931 | 11:26,463,518 | C/G | — | uncertain significance |
| rs150999282 | 11:26,463,539 | G/A | — | uncertain significance |
| rs759292156 | 11:26,463,540 | C/T | — | uncertain significance |
| rs916142987 | 11:26,463,542 | C/T | — | uncertain significance |
| rs767179720 | 11:26,463,546 | G/A | — | uncertain significance |
| rs775066580 | 11:26,463,550 | C/T | — | likely benign |
| rs950264068 | 11:26,463,573 | A/G | — | uncertain significance |
| rs750849093 | 11:26,463,578 | A/G | — | uncertain significance |
| rs758782141 | 11:26,463,579 | C/T | — | uncertain significance |
| rs61746297 | 11:26,463,582 | C/T | — | conflicting classifications of pathogenicity |
| rs192799862 | 11:26,463,598 | C/T | — | likely benign |
| rs748148669 | 11:26,463,599 | G/A | — | uncertain significance |
| rs770936922 | 11:26,463,600 | A/C | — | likely benign |
| rs138534016 | 11:26,463,604 | T/G | — | uncertain significance |
| rs1054906025 | 11:26,463,630 | C/G | — | uncertain significance |
| rs2134023950 | 11:26,463,640 | C/T | — | likely benign |
| rs2494620069 | 11:26,463,641 | A/G | — | uncertain significance |
| rs370178843 | 11:26,463,677 | T/C | — | likely benign |
| rs140279191 | 11:26,465,310 | A/C | — | likely benign |
| rs2494625046 | 11:26,465,318 | C/A | — | uncertain significance |
| rs942840094 | 11:26,465,325 | G/T | — | uncertain significance |
| rs1378436915 | 11:26,465,327 | A/G | — | uncertain significance |
| rs1565028129 | 11:26,465,333 | A/G | — | uncertain significance |
| rs768382940 | 11:26,465,335 | G/A | — | uncertain significance |
| rs2494625147 | 11:26,465,340 | T/C | — | likely benign |
| rs199503393 | 11:26,465,351 | G/A | — | conflicting classifications of pathogenicity |
| rs2494625259 | 11:26,465,360 | C/T | — | uncertain significance |
| rs889402542 | 11:26,465,363 | A/C | — | uncertain significance |
| rs370404701 | 11:26,465,365 | C/A | — | conflicting classifications of pathogenicity |
| rs113373791 | 11:26,465,383 | G/A | — | uncertain significance |
| rs4032918 | 11:26,465,500 | A/G | — | benign |
| rs17309048 | 11:26,484,301 | G/A | — | likely benign |
| rs7942432 | 11:26,484,496 | G/C | — | benign |
| rs1481232300 | 11:26,484,573 | A/G | — | likely benign |
| rs768773128 | 11:26,484,601 | C/T | — | uncertain significance |
| rs868398613 | 11:26,484,603 | G/C | — | uncertain significance |
| rs138889073 | 11:26,484,611 | A/G | — | benign |
| rs771916231 | 11:26,484,617 | C/T | — | likely benign |
| rs1009310778 | 11:26,484,621 | A/G | — | uncertain significance |
| rs371308679 | 11:26,484,628 | A/C | — | uncertain significance |
| rs1254525478 | 11:26,484,631 | G/A | — | uncertain significance |
| rs1308670902 | 11:26,484,633 | T/C | — | uncertain significance |
| rs996483030 | 11:26,484,637 | G/A | — | uncertain significance |
| rs141892021 | 11:26,484,650 | C/T | — | likely benign |
| rs750501222 | 11:26,484,654 | G/T | — | uncertain significance |
| rs368655821 | 11:26,484,661 | A/G | — | conflicting classifications of pathogenicity |
| rs199574429 | 11:26,484,670 | C/A | — | conflicting classifications of pathogenicity |
| rs753616592 | 11:26,484,680 | G/A | — | likely benign |
| rs766575700 | 11:26,484,684 | A/G | — | uncertain significance |
| rs778338592 | 11:26,484,691 | C/T | — | uncertain significance |
| rs1301925099 | 11:26,484,699 | A/G | — | uncertain significance |
| rs113967511 | 11:26,484,860 | A/G | — | likely benign |
| rs187779325 | 11:26,529,525 | C/T | — | likely benign |
| rs2494848942 | 11:26,529,633 | T/C | — | likely benign |
| rs2494849088 | 11:26,529,647 | G/T | — | likely benign |
| rs2494849348 | 11:26,529,682 | C/T | — | uncertain significance |
| rs1229131409 | 11:26,529,711 | G/T | — | uncertain significance |
| rs559014773 | 11:26,529,741 | A/G | — | conflicting classifications of pathogenicity |
| rs201744356 | 11:26,529,752 | T/C | — | likely benign |
| rs2134136852 | 11:26,529,764 | A/G | — | likely benign |
| rs375570481 | 11:26,529,813 | G/C | — | uncertain significance |
| rs294025 | 11:26,529,900 | G/C | — | benign |
| rs117806277 | 11:26,530,052 | G/A | — | likely benign |
| rs117975000 | 11:26,530,079 | A/G | — | likely benign |
| rs117824214 | 11:26,538,067 | C/T | — | benign |
| rs77677955 | 11:26,538,119 | G/T | — | benign |
| rs2494896607 | 11:26,538,357 | C/T | — | likely benign |
| rs532775097 | 11:26,538,362 | T/C | — | benign |
| rs778253031 | 11:26,538,391 | C/T | — | likely benign |
| rs1316389828 | 11:26,538,392 | G/A | — | uncertain significance |
| rs375180741 | 11:26,538,395 | A/G | — | uncertain significance |
| rs1861883743 | 11:26,538,414 | A/G | — | uncertain significance |
| rs748171802 | 11:26,538,429 | C/T | — | uncertain significance |
| rs769596059 | 11:26,538,430 | G/A | — | likely benign |
| rs1487072946 | 11:26,538,456 | A/C | — | uncertain significance |
| rs2494897441 | 11:26,538,475 | G/A | — | uncertain significance |
| rs527286850 | 11:26,538,622 | T/C | — | likely benign |
| rs117440144 | 11:26,538,637 | C/T | — | benign |
| rs117645192 | 11:26,538,748 | G/A | — | benign |
Showing 100 of 435 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.