CEP112
centrosomal protein 112
Summary
This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Known Variants84 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs75033823 | 17:63,633,295 | C/A | — | benign |
| rs2544335567 | 17:63,633,305 | A/G | — | uncertain significance |
| rs1336371808 | 17:63,637,125 | A/G | — | uncertain significance |
| rs984236926 | 17:63,637,147 | T/C | — | uncertain significance |
| rs566441029 | 17:63,637,174 | T/C | — | uncertain significance |
| rs8074751 | 17:63,642,542 | G/A | downstream gene variant | — |
| rs950016636 | 17:63,685,260 | T/G | — | uncertain significance |
| rs557611105 | 17:63,685,271 | G/T | — | uncertain significance |
| rs775825757 | 17:63,685,279 | A/T | — | uncertain significance |
| rs899656877 | 17:63,685,288 | C/G | — | uncertain significance |
| rs753950356 | 17:63,685,296 | C/A | — | uncertain significance |
| rs369805364 | 17:63,685,324 | C/T | — | uncertain significance |
| rs1322595058 | 17:63,739,215 | G/T | — | uncertain significance |
| rs565932269 | 17:63,739,241 | T/C | — | uncertain significance |
| rs144305706 | 17:63,746,831 | C/T | — | likely benign |
| rs4791134 | 17:63,750,241 | G/T | — | — |
| rs9972944 | 17:63,771,079 | A/G | regulatory region variant | — |
| rs62065084 | 17:63,822,357 | T/C | intron variant | — |
| rs563384261 | 17:63,831,211 | C/A | — | — |
| rs148762808 | 17:63,842,250 | G/A | intron variant | — |
| rs2057941084 | 17:63,847,927 | C/T | — | uncertain significance |
| rs201276594 | 17:63,847,986 | G/A | — | uncertain significance |
| rs1204996307 | 17:63,848,098 | C/T | — | uncertain significance |
| rs373330595 | 17:63,848,140 | T/C | — | uncertain significance |
| rs760811143 | 17:63,848,143 | C/T | — | uncertain significance |
| rs201042942 | 17:63,848,155 | T/A | — | likely benign |
| rs780421901 | 17:63,898,329 | G/A | — | pathogenic |
| rs149561928 | 17:63,898,359 | G/A | — | uncertain significance |
| rs144307988 | 17:63,898,448 | A/G | — | likely benign |
| rs11652557 | 17:63,912,574 | G/A | intron variant | — |
| rs12938334 | 17:63,934,200 | A/C | — | — |
| rs929612230 | 17:63,957,605 | T/G | — | uncertain significance |
| rs373914387 | 17:63,957,649 | C/T | — | uncertain significance |
| rs375839037 | 17:63,957,663 | T/G | — | uncertain significance |
| rs556192062 | 17:63,985,863 | G/A | — | — |
| rs764946422 | 17:64,001,837 | C/A | — | uncertain significance |
| rs202070172 | 17:64,001,862 | T/A | — | uncertain significance |
| rs976015872 | 17:64,024,444 | T/C | — | uncertain significance |
| rs375754252 | 17:64,024,516 | C/G | — | uncertain significance |
| rs778020781 | 17:64,025,293 | T/C | — | uncertain significance |
| rs149063261 | 17:64,025,298 | G/T | — | likely benign |
| rs776397228 | 17:64,025,324 | C/G | — | uncertain significance |
| rs1427832396 | 17:64,025,345 | C/T | — | uncertain significance |
| rs774572812 | 17:64,025,368 | C/T | — | uncertain significance |
| rs1429248343 | 17:64,026,014 | C/T | — | uncertain significance |
| rs142887863 | 17:64,026,071 | T/C | — | uncertain significance |
| rs369403378 | 17:64,026,113 | C/T | — | uncertain significance |
| rs147020220 | 17:64,049,870 | G/C | — | uncertain significance |
| rs757799780 | 17:64,049,900 | C/T | — | uncertain significance |
| rs2511289286 | 17:64,049,937 | C/T | — | uncertain significance |
| rs2511289409 | 17:64,049,946 | G/T | — | uncertain significance |
| rs146009782 | 17:64,049,981 | G/C | — | likely benign |
| rs1443275 | 17:64,053,798 | A/C | — | — |
| rs536242208 | 17:64,059,118 | T/C | — | uncertain significance |
| rs369657913 | 17:64,059,146 | T/C | — | uncertain significance |
| rs573903382 | 17:64,059,185 | G/A | — | uncertain significance |
| rs747747184 | 17:64,092,382 | A/T | — | uncertain significance |
| rs2511481869 | 17:64,092,402 | A/C | — | uncertain significance |
| rs1024416767 | 17:64,092,421 | T/C | — | uncertain significance |
| rs2319125 | 17:64,098,545 | T/A | — | — |
| rs9897921 | 17:64,124,768 | A/C | intron variant | — |
| rs753392909 | 17:64,125,929 | T/C | — | uncertain significance |
| rs143892062 | 17:64,128,856 | G/A | — | pathogenic |
| rs77620153 | 17:64,130,794 | G/A | intron variant | — |
| rs9891968 | 17:64,132,846 | G/A | intron variant | — |
| rs7209395 | 17:64,133,726 | T/C | intron variant | — |
| rs78606665 | 17:64,146,314 | G/C | — | — |
| rs9895407 | 17:64,157,855 | T/C | intron variant | — |
| rs7213215 | 17:64,164,559 | A/G | intron variant | — |
| rs189653413 | 17:64,164,653 | G/A | intron variant | — |
| rs143967983 | 17:64,171,177 | G/A | — | uncertain significance |
| rs773152011 | 17:64,171,180 | G/A | — | uncertain significance |
| rs1466975017 | 17:64,171,189 | A/G | — | uncertain significance |
| rs766962362 | 17:64,171,193 | T/C | — | uncertain significance |
| rs765491912 | 17:64,171,216 | T/C | — | uncertain significance |
| rs202195520 | 17:64,172,965 | T/C | — | uncertain significance |
| rs529616408 | 17:64,172,977 | C/T | — | uncertain significance |
| rs150126064 | 17:64,173,012 | G/T | — | uncertain significance |
| rs754679253 | 17:64,173,070 | C/T | — | uncertain significance |
| rs2511876214 | 17:64,173,121 | G/C | — | uncertain significance |
| rs138181492 | 17:64,173,136 | G/A | — | uncertain significance |
| rs74531840 | 17:64,176,115 | T/A | intron variant | — |
| rs746276629 | 17:64,179,336 | C/A | — | uncertain significance |
| rs2511905484 | 17:64,179,354 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.