SEPTIN2
septin 2
Summary
Enables identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; cytoskeleton-dependent cytokinesis; and smoothened signaling pathway. Predicted to act upstream of or within regulation of L-glutamate import across plasma membrane and regulation of protein localization. Located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and sperm annulus. Part of septin complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12694997 | 2:242,262,986 | G/A | regulatory region variant | — |
| rs374059214 | 2:242,265,418 | C/A | — | uncertain significance |
| rs62193162 | 2:242,268,436 | T/A | intron variant | — |
| rs768740731 | 2:242,274,562 | C/T | — | uncertain significance |
| rs760535912 | 2:242,274,593 | T/A | — | uncertain significance |
| rs533422343 | 2:242,275,425 | A/G | — | uncertain significance |
| rs6437257 | 2:242,276,441 | A/G | intron variant | — |
| rs1378294520 | 2:242,276,928 | A/G | — | uncertain significance |
| rs34185831 | 2:242,277,109 | G/A | — | benign |
| rs13018977 | 2:242,278,007 | T/A | intron variant | — |
| rs141283512 | 2:242,278,018 | A/T | intron variant | — |
| rs2549346398 | 2:242,282,492 | A/C | — | uncertain significance |
| rs116154780 | 2:242,286,374 | C/T | downstream gene variant | — |
| rs760682260 | 2:242,289,551 | G/A | — | uncertain significance |
| rs182193570 | 2:242,292,698 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.