RIMBP2
RIMS binding protein 2
Summary
Predicted to enable voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels and voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential. Predicted to be a structural constituent of presynaptic active zone. Predicted to be involved in neuromuscular synaptic transmission; regulation of calcium-dependent activation of synaptic vesicle fusion; and regulation of presynaptic membrane potential. Predicted to be located in plasma membrane and synapse. Predicted to be active in calyx of Held; glutamatergic synapse; and presynaptic active zone cytoplasmic component. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2547877426 | 12:130,883,697 | C/T | — | uncertain significance |
| rs146017803 | 12:130,884,290 | T/G | — | uncertain significance |
| rs757035952 | 12:130,884,331 | C/G | — | uncertain significance |
| rs149362790 | 12:130,890,737 | C/T | — | uncertain significance |
| rs779083555 | 12:130,890,761 | T/C | — | uncertain significance |
| rs144672832 | 12:130,890,766 | C/G | — | uncertain significance |
| rs747462975 | 12:130,890,778 | G/A | — | uncertain significance |
| rs148542555 | 12:130,892,273 | C/T | — | uncertain significance |
| rs150099064 | 12:130,892,350 | C/T | — | likely benign |
| rs199928159 | 12:130,892,351 | G/A | — | uncertain significance |
| rs372937244 | 12:130,898,776 | G/A | — | uncertain significance |
| rs559946241 | 12:130,898,834 | G/A | — | uncertain significance |
| rs754032403 | 12:130,898,839 | C/T | — | uncertain significance |
| rs141330928 | 12:130,907,000 | A/T | — | uncertain significance |
| rs1388394929 | 12:130,908,828 | C/T | — | likely benign |
| rs984080655 | 12:130,908,906 | C/T | — | likely benign |
| rs768729882 | 12:130,912,734 | T/C | — | uncertain significance |
| rs761871739 | 12:130,912,743 | G/A | — | uncertain significance |
| rs369017928 | 12:130,912,768 | C/G | — | uncertain significance |
| rs1354250775 | 12:130,912,770 | T/C | — | uncertain significance |
| rs151149173 | 12:130,912,855 | G/A | — | uncertain significance |
| rs766994772 | 12:130,912,875 | C/T | — | uncertain significance |
| rs763297868 | 12:130,919,298 | C/G | — | uncertain significance |
| rs745420290 | 12:130,919,352 | T/C | — | uncertain significance |
| rs748817911 | 12:130,919,424 | A/G | — | uncertain significance |
| rs768170548 | 12:130,921,398 | C/G | — | uncertain significance |
| rs776885420 | 12:130,921,421 | C/T | — | uncertain significance |
| rs371228394 | 12:130,921,454 | G/T | — | uncertain significance |
| rs757954491 | 12:130,921,532 | T/G | — | uncertain significance |
| rs141816554 | 12:130,921,617 | C/T | — | uncertain significance |
| rs147245171 | 12:130,921,641 | G/A | — | uncertain significance |
| rs774554162 | 12:130,921,655 | G/A | — | uncertain significance |
| rs139183976 | 12:130,921,668 | G/T | — | uncertain significance |
| rs762629303 | 12:130,921,670 | G/T | — | uncertain significance |
| rs751138965 | 12:130,921,673 | G/A | — | uncertain significance |
| rs530744461 | 12:130,921,814 | G/A | — | uncertain significance |
| rs144365410 | 12:130,922,956 | T/C | — | uncertain significance |
| rs753060605 | 12:130,923,001 | C/T | — | likely benign |
| rs201901114 | 12:130,923,034 | G/A | — | uncertain significance |
| rs143237813 | 12:130,926,433 | C/T | — | likely benign |
| rs2548195601 | 12:130,926,561 | A/G | — | likely benign |
| rs2548196449 | 12:130,926,621 | G/T | — | uncertain significance |
| rs146435338 | 12:130,926,704 | T/C | — | likely benign |
| rs138793493 | 12:130,926,715 | C/T | — | likely benign |
| rs368697814 | 12:130,926,735 | C/T | — | uncertain significance |
| rs78067928 | 12:130,926,818 | T/A | — | benign |
| rs141970284 | 12:130,926,846 | C/T | — | uncertain significance |
| rs747732428 | 12:130,926,966 | C/T | — | uncertain significance |
| rs139793871 | 12:130,926,979 | G/A | — | likely benign |
| rs987136804 | 12:130,927,001 | G/C | — | uncertain significance |
| rs148429220 | 12:130,927,011 | C/T | — | uncertain significance |
| rs1331991023 | 12:130,927,019 | C/T | — | uncertain significance |
| rs776302959 | 12:130,927,038 | G/A | — | uncertain significance |
| rs746533969 | 12:130,927,055 | A/G | — | uncertain significance |
| rs150979957 | 12:130,927,059 | G/A | — | uncertain significance |
| rs141670010 | 12:130,927,074 | C/T | — | likely benign |
| rs1488760750 | 12:130,927,104 | C/G | — | uncertain significance |
| rs200895310 | 12:130,927,140 | C/T | — | uncertain significance |
| rs551750640 | 12:130,927,184 | C/T | — | uncertain significance |
| rs141293900 | 12:130,931,580 | T/C | intron variant | — |
| rs199581863 | 12:130,934,746 | T/C | — | uncertain significance |
| rs745575568 | 12:130,934,796 | G/A | — | uncertain significance |
| rs370254266 | 12:130,935,763 | C/T | — | uncertain significance |
| rs139113247 | 12:130,935,827 | C/A | — | likely benign |
| rs778134326 | 12:130,935,837 | C/T | — | uncertain significance |
| rs113895223 | 12:130,935,855 | G/A | — | likely benign |
| rs1017096188 | 12:130,941,058 | G/T | — | uncertain significance |
| rs2548297936 | 12:130,941,109 | T/C | — | uncertain significance |
| rs776954273 | 12:130,941,164 | G/A | — | uncertain significance |
| rs370817702 | 12:130,941,214 | C/T | — | uncertain significance |
| rs2548416006 | 12:130,963,471 | C/A | — | uncertain significance |
| rs372411438 | 12:130,963,523 | C/T | — | likely benign |
| rs1444850938 | 12:130,963,528 | G/T | — | uncertain significance |
| rs1464108 | 12:131,022,010 | A/C | intron variant | — |
| rs192373484 | 12:131,097,518 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.