KASH5
KASH domain containing 5
Summary
Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cytoskeleton organization; homologous chromosome segregation; and spindle localization. Predicted to act upstream of or within several processes, including double-strand break repair via homologous recombination; meiotic telomere clustering; and spermatogenesis. Predicted to be located in chromosome; membrane; and nuclear envelope. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in chromosome; meiotic spindle pole; and nuclear outer membrane. Implicated in primary ovarian insufficiency and spermatogenic failure 88. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147745794 | 19:49,891,469 | C/T | regulatory region variant | — |
| rs201032080 | 19:49,894,178 | C/T | — | uncertain significance |
| rs769812920 | 19:49,897,747 | C/T | — | uncertain significance |
| rs367728051 | 19:49,897,813 | G/A | — | uncertain significance |
| rs1215984095 | 19:49,898,381 | A/G | — | uncertain significance |
| rs2513803991 | 19:49,898,390 | C/T | — | uncertain significance |
| rs191973091 | 19:49,898,404 | A/G | — | likely benign |
| rs1391170444 | 19:49,898,426 | A/G | — | uncertain significance |
| rs201890660 | 19:49,898,431 | C/T | — | uncertain significance |
| rs2513804831 | 19:49,898,516 | T/C | — | uncertain significance |
| rs780302436 | 19:49,898,545 | C/T | — | uncertain significance |
| rs1254329526 | 19:49,899,045 | G/A | — | uncertain significance |
| rs777705158 | 19:49,899,049 | C/T | — | uncertain significance |
| rs766540572 | 19:49,899,063 | G/T | — | uncertain significance |
| rs573444137 | 19:49,901,358 | G/T | — | uncertain significance |
| rs2513815325 | 19:49,901,361 | T/C | — | pathogenic |
| rs371237543 | 19:49,902,391 | C/T | — | uncertain significance |
| rs942688956 | 19:49,902,392 | G/A | — | uncertain significance |
| rs200723797 | 19:49,902,399 | G/A | — | likely pathogenic |
| rs562232016 | 19:49,910,197 | G/A | — | uncertain significance |
| rs370996029 | 19:49,910,521 | C/T | — | uncertain significance |
| rs886236285 | 19:49,910,525 | T/C | — | uncertain significance |
| rs370226613 | 19:49,912,278 | G/A | — | uncertain significance |
| rs1365672771 | 19:49,912,282 | C/A | — | uncertain significance |
| rs767172404 | 19:49,912,502 | C/T | — | uncertain significance |
| rs199694412 | 19:49,912,510 | G/A | — | likely benign |
| rs188572864 | 19:49,912,545 | G/A | — | pathogenic |
| rs376598129 | 19:49,913,084 | G/C | — | likely benign |
| rs750316300 | 19:49,913,124 | G/A | — | uncertain significance |
| rs1030849089 | 19:49,913,128 | G/A | — | uncertain significance |
| rs546864276 | 19:49,913,934 | G/A | — | — |
| rs767858463 | 19:49,920,280 | C/A | — | likely benign |
| rs201862758 | 19:49,920,303 | G/A | — | likely benign |
| rs754173644 | 19:49,920,426 | C/T | — | uncertain significance |
| rs1276695672 | 19:49,920,498 | C/T | — | uncertain significance |
| rs145412981 | 19:49,920,634 | G/C | — | uncertain significance |
| rs1439365177 | 19:49,920,682 | T/A | — | pathogenic |
| rs762561630 | 19:49,920,705 | C/T | — | uncertain significance |
| rs942904688 | 19:49,920,706 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.