NISCH
nischarin
Summary
This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013]
Known Variants95 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs758816689 | 3:52,489,670 | C/G | — | uncertain significance |
| rs752094665 | 3:52,489,677 | T/C | — | uncertain significance |
| rs1317884426 | 3:52,489,709 | G/A | — | uncertain significance |
| rs755940776 | 3:52,492,816 | G/A | — | uncertain significance |
| rs1559621325 | 3:52,492,859 | A/G | — | uncertain significance |
| rs6445484 | 3:52,503,800 | A/T | — | — |
| rs976212818 | 3:52,504,877 | G/T | — | uncertain significance |
| rs781492284 | 3:52,504,893 | G/A | — | uncertain significance |
| rs148675688 | 3:52,505,864 | C/T | — | likely benign |
| rs746558960 | 3:52,505,952 | G/A | — | uncertain significance |
| rs753267458 | 3:52,506,365 | A/G | — | uncertain significance |
| rs146818112 | 3:52,506,367 | C/T | — | uncertain significance |
| rs779642718 | 3:52,506,374 | C/T | — | uncertain significance |
| rs6784615 | 3:52,506,426 | C/T | regulatory region variant | — |
| rs76608301 | 3:52,507,794 | G/A | — | benign |
| rs148320456 | 3:52,510,484 | T/A | — | uncertain significance |
| rs750411572 | 3:52,510,521 | T/C | — | uncertain significance |
| rs2471486471 | 3:52,510,526 | G/T | — | uncertain significance |
| rs199545023 | 3:52,510,541 | G/A | — | likely benign |
| rs372082480 | 3:52,510,569 | C/T | — | uncertain significance |
| rs138837125 | 3:52,512,240 | G/A | — | uncertain significance |
| rs1344315704 | 3:52,512,267 | A/G | — | uncertain significance |
| rs2471489510 | 3:52,512,272 | G/C | — | uncertain significance |
| rs200373254 | 3:52,512,477 | C/T | — | uncertain significance |
| rs751980093 | 3:52,512,478 | G/A | — | uncertain significance |
| rs78900486 | 3:52,513,841 | A/G | — | benign |
| rs763734886 | 3:52,514,216 | G/A | — | uncertain significance |
| rs755394793 | 3:52,514,252 | C/T | — | uncertain significance |
| rs2471493125 | 3:52,514,255 | C/T | — | uncertain significance |
| rs71297399 | 3:52,514,271 | C/T | — | benign |
| rs6800707 | 3:52,516,293 | C/A | — | — |
| rs75522184 | 3:52,516,950 | A/G | intron variant | — |
| rs1279355244 | 3:52,518,532 | T/C | — | uncertain significance |
| rs1707358440 | 3:52,518,536 | G/A | — | uncertain significance |
| rs138615970 | 3:52,518,567 | C/T | — | uncertain significance |
| rs768936281 | 3:52,518,579 | G/T | — | uncertain significance |
| rs369875480 | 3:52,518,646 | C/T | — | uncertain significance |
| rs145370808 | 3:52,519,795 | C/T | — | benign |
| rs750274200 | 3:52,519,817 | C/G | — | uncertain significance |
| rs755842068 | 3:52,519,818 | G/A | — | likely benign |
| rs368651371 | 3:52,521,355 | G/A | — | uncertain significance |
| rs61737029 | 3:52,521,380 | T/C | — | benign |
| rs140252201 | 3:52,521,420 | G/C | — | uncertain significance |
| rs138175917 | 3:52,521,453 | G/A | — | uncertain significance |
| rs148434820 | 3:52,521,522 | G/A | — | likely benign |
| rs146374405 | 3:52,521,549 | G/A | — | uncertain significance |
| rs748899129 | 3:52,521,674 | C/G | — | uncertain significance |
| rs2471504853 | 3:52,521,688 | C/T | — | uncertain significance |
| rs2471504880 | 3:52,521,702 | A/C | — | uncertain significance |
| rs145748458 | 3:52,521,711 | G/A | — | uncertain significance |
| rs770065257 | 3:52,521,748 | G/C | — | uncertain significance |
| rs148273093 | 3:52,521,799 | C/T | — | uncertain significance |
| rs773800809 | 3:52,521,885 | A/G | — | uncertain significance |
| rs142256480 | 3:52,521,897 | G/A | — | uncertain significance |
| rs138392739 | 3:52,521,959 | C/T | — | likely benign |
| rs750186372 | 3:52,522,014 | C/T | — | uncertain significance |
| rs77768459 | 3:52,522,091 | C/A | — | likely benign |
| rs368842942 | 3:52,522,105 | G/T | — | uncertain significance |
| rs781731998 | 3:52,522,122 | G/A | — | uncertain significance |
| rs759734244 | 3:52,522,179 | C/T | — | uncertain significance |
| rs201933512 | 3:52,522,183 | G/A | — | uncertain significance |
| rs372469950 | 3:52,522,221 | G/A | — | uncertain significance |
| rs145102328 | 3:52,522,223 | C/T | — | likely benign |
| rs1003894642 | 3:52,522,224 | A/C | — | uncertain significance |
| rs201390995 | 3:52,522,296 | C/T | — | uncertain significance |
| rs150644559 | 3:52,522,297 | G/A | — | benign |
| rs755616948 | 3:52,522,484 | C/G | — | uncertain significance |
| rs2471506490 | 3:52,522,552 | A/G | — | uncertain significance |
| rs142618964 | 3:52,522,555 | C/A | — | uncertain significance |
| rs61736838 | 3:52,522,591 | C/T | — | benign |
| rs752545011 | 3:52,522,608 | G/A | — | uncertain significance |
| rs748520977 | 3:52,523,363 | G/A | — | uncertain significance |
| rs373807549 | 3:52,523,396 | C/T | — | uncertain significance |
| rs199584023 | 3:52,523,414 | C/T | — | uncertain significance |
| rs753940058 | 3:52,523,432 | C/T | — | uncertain significance |
| rs61729066 | 3:52,523,507 | C/T | — | uncertain significance |
| rs146356041 | 3:52,523,558 | C/T | — | uncertain significance |
| rs200762525 | 3:52,523,606 | C/T | — | uncertain significance |
| rs376126677 | 3:52,523,633 | G/A | — | likely benign |
| rs1707508337 | 3:52,523,635 | C/T | — | uncertain significance |
| rs746799481 | 3:52,523,659 | G/A | — | uncertain significance |
| rs1023774046 | 3:52,523,668 | G/A | — | uncertain significance |
| rs41292366 | 3:52,524,827 | C/T | — | benign |
| rs199747952 | 3:52,525,466 | C/T | — | uncertain significance |
| rs200062389 | 3:52,525,956 | A/T | — | uncertain significance |
| rs750243875 | 3:52,526,118 | G/A | — | uncertain significance |
| rs200860167 | 3:52,526,129 | C/T | — | likely benign |
| rs771486969 | 3:52,526,179 | C/T | — | uncertain significance |
| rs373042665 | 3:52,526,200 | G/A | — | uncertain significance |
| rs779030665 | 3:52,526,217 | C/T | — | uncertain significance |
| rs777918537 | 3:52,526,220 | G/A | — | uncertain significance |
| rs999555299 | 3:52,526,266 | A/G | — | uncertain significance |
| rs1707590520 | 3:52,526,299 | G/A | — | uncertain significance |
| rs377582481 | 3:52,526,317 | G/A | — | likely benign |
| rs760309795 | 3:52,526,382 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.