C9orf72
C9orf72-SMCR8 complex subunit
Summary
The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
Known Variants80 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2814707 | 9:27,536,397 | C/T | intergenic variant | uncertain significance |
| rs1820774330 | 9:27,546,608 | C/T | — | uncertain significance |
| rs549660498 | 9:27,546,686 | C/T | — | uncertain significance |
| rs141012074 | 9:27,546,765 | A/T | — | benign |
| rs9103 | 9:27,546,828 | A/G | — | benign |
| rs13691 | 9:27,546,890 | G/A | — | benign |
| rs886063833 | 9:27,546,972 | T/G | — | uncertain significance |
| rs191690136 | 9:27,547,020 | A/G | — | likely benign |
| rs375528640 | 9:27,547,098 | A/G | — | uncertain significance |
| rs184151041 | 9:27,547,170 | T/C | — | uncertain significance |
| rs41272887 | 9:27,547,176 | C/A | — | benign |
| rs563194682 | 9:27,547,210 | T/C | — | benign |
| rs3739526 | 9:27,547,313 | G/T | — | benign |
| rs561651779 | 9:27,547,320 | T/C | — | benign |
| rs774314112 | 9:27,547,333 | A/G | — | uncertain significance |
| rs952713285 | 9:27,547,343 | T/C | — | uncertain significance |
| rs80172172 | 9:27,547,397 | C/T | — | benign |
| rs148832592 | 9:27,547,447 | C/T | — | uncertain significance |
| rs886063835 | 9:27,547,561 | A/G | — | uncertain significance |
| rs548883941 | 9:27,547,583 | C/A | — | benign |
| rs567258799 | 9:27,547,632 | T/C | — | uncertain significance |
| rs886063836 | 9:27,547,657 | C/G | — | uncertain significance |
| rs886063837 | 9:27,547,682 | T/G | — | uncertain significance |
| rs754824201 | 9:27,547,780 | T/C | — | uncertain significance |
| rs886063838 | 9:27,547,878 | A/C | — | uncertain significance |
| rs886063839 | 9:27,547,917 | T/C | — | uncertain significance |
| rs886063840 | 9:27,547,984 | A/G | — | uncertain significance |
| rs73440933 | 9:27,547,986 | A/G | — | benign |
| rs1333786274 | 9:27,548,010 | G/C | — | uncertain significance |
| rs146530591 | 9:27,548,060 | G/A | — | benign |
| rs1820806932 | 9:27,548,090 | G/A | — | uncertain significance |
| rs549202876 | 9:27,548,112 | C/T | — | uncertain significance |
| rs886063841 | 9:27,548,161 | C/T | — | uncertain significance |
| rs759595881 | 9:27,548,202 | T/G | — | uncertain significance |
| rs767272170 | 9:27,548,254 | C/G | — | uncertain significance |
| rs750045383 | 9:27,548,256 | C/T | — | uncertain significance |
| rs141063383 | 9:27,548,276 | G/A | — | likely benign |
| rs747372712 | 9:27,548,293 | T/C | — | uncertain significance |
| rs200703028 | 9:27,548,395 | A/G | — | uncertain significance |
| rs201135029 | 9:27,548,428 | T/G | — | likely benign |
| rs182259442 | 9:27,548,547 | T/G | — | likely benign |
| rs760887239 | 9:27,548,576 | A/G | — | uncertain significance |
| rs541965231 | 9:27,548,604 | C/A | — | uncertain significance |
| rs2489402700 | 9:27,548,614 | C/G | — | uncertain significance |
| rs139352974 | 9:27,550,639 | A/G | — | benign |
| rs557931293 | 9:27,556,595 | G/C | — | uncertain significance |
| rs1307772456 | 9:27,556,599 | C/A | — | uncertain significance |
| rs2489427718 | 9:27,556,602 | G/A | — | uncertain significance |
| rs780494226 | 9:27,556,648 | G/A | — | uncertain significance |
| rs146043466 | 9:27,556,656 | T/A | — | uncertain significance |
| rs773251849 | 9:27,556,665 | G/A | — | uncertain significance |
| rs10122902 | 9:27,556,780 | G/A | — | benign |
| rs886063845 | 9:27,558,552 | C/A | — | uncertain significance |
| rs1169081203 | 9:27,558,573 | T/C | — | uncertain significance |
| rs758724401 | 9:27,558,579 | C/T | — | uncertain significance |
| rs781214485 | 9:27,560,260 | C/T | — | likely benign |
| rs147034723 | 9:27,560,281 | A/G | — | benign |
| rs774359 | 9:27,561,049 | T/C | intron variant | — |
| rs17769294 | 9:27,561,628 | C/T | — | benign |
| rs2589050 | 9:27,562,352 | T/C | — | benign |
| rs775042273 | 9:27,562,406 | T/C | — | uncertain significance |
| rs34608611 | 9:27,562,451 | A/G | — | benign |
| rs2453555 | 9:27,563,868 | G/A | intron variant | — |
| rs374411112 | 9:27,565,556 | T/C | — | likely benign |
| rs770077991 | 9:27,565,565 | C/G | — | likely benign |
| rs188263738 | 9:27,565,571 | G/A | — | benign |
| rs1031153 | 9:27,565,936 | C/T | intron variant | — |
| rs1375695528 | 9:27,566,790 | T/C | — | uncertain significance |
| rs147752518 | 9:27,566,831 | T/C | — | benign |
| rs145418675 | 9:27,566,849 | C/T | — | likely benign |
| rs1819480368 | 9:27,566,901 | C/T | — | uncertain significance |
| rs548524458 | 9:27,567,126 | T/C | — | uncertain significance |
| rs10757668 | 9:27,567,145 | C/T | — | benign |
| rs886063846 | 9:27,573,709 | C/T | — | uncertain significance |
| rs750403732 | 9:27,573,775 | G/C | — | uncertain significance |
| rs183102304 | 9:27,573,777 | T/G | — | uncertain significance |
| rs756998583 | 9:27,573,814 | T/C | — | uncertain significance |
| rs1819655845 | 9:27,573,819 | C/T | — | uncertain significance |
| rs41272893 | 9:27,573,826 | A/G | — | benign |
| rs886063848 | 9:27,573,835 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.