ARHGEF3
Rho guanine nucleotide exchange factor 3
Summary
Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148484521 | 3:56,763,303 | C/T | — | uncertain significance |
| rs747749503 | 3:56,763,304 | G/T | — | uncertain significance |
| rs777023361 | 3:56,763,390 | T/A | — | uncertain significance |
| rs760044987 | 3:56,763,391 | A/T | — | uncertain significance |
| rs376626083 | 3:56,763,477 | G/C | — | uncertain significance |
| rs1431104662 | 3:56,763,488 | T/A | — | uncertain significance |
| rs139172951 | 3:56,763,513 | C/T | — | uncertain significance |
| rs866259310 | 3:56,763,546 | G/A | — | uncertain significance |
| rs2032963028 | 3:56,763,574 | G/C | — | uncertain significance |
| rs2470920818 | 3:56,766,287 | C/G | — | uncertain significance |
| rs201007278 | 3:56,766,368 | G/A | — | uncertain significance |
| rs557621040 | 3:56,766,430 | T/C | — | uncertain significance |
| rs374801140 | 3:56,771,215 | C/T | — | uncertain significance |
| rs556643219 | 3:56,771,223 | T/C | — | uncertain significance |
| rs762995356 | 3:56,771,242 | G/C | — | uncertain significance |
| rs3772219 | 3:56,771,251 | A/T | missense variant | — |
| rs1291929489 | 3:56,771,283 | T/A | — | uncertain significance |
| rs2470949902 | 3:56,771,313 | T/C | — | uncertain significance |
| rs2470986691 | 3:56,779,378 | A/G | — | uncertain significance |
| rs915595115 | 3:56,785,118 | G/A | — | uncertain significance |
| rs1437851218 | 3:56,785,374 | C/A | — | uncertain significance |
| rs139520914 | 3:56,789,050 | C/T | — | uncertain significance |
| rs2034985358 | 3:56,789,098 | T/C | — | uncertain significance |
| rs768543223 | 3:56,789,110 | C/T | — | uncertain significance |
| rs13100723 | 3:56,798,495 | C/T | intron variant | — |
| rs776873222 | 3:56,807,743 | G/T | — | likely benign |
| rs770710162 | 3:56,807,744 | G/T | — | uncertain significance |
| rs558978343 | 3:56,807,820 | G/A | — | uncertain significance |
| rs7646054 | 3:56,809,628 | A/C | — | — |
| rs9880418 | 3:56,809,820 | A/C | — | — |
| rs2317251 | 3:56,812,738 | A/T | intron variant | — |
| rs141891658 | 3:56,825,415 | G/T | intron variant | — |
| rs1110866 | 3:56,826,324 | A/C | intron variant | — |
| rs13098914 | 3:56,834,799 | C/G | — | — |
| rs184010343 | 3:56,836,013 | C/T | regulatory region variant | — |
| rs79213742 | 3:56,837,730 | T/G | — | — |
| rs1354034 | 3:56,849,749 | T/C | intron variant | — |
| rs528076692 | 3:56,853,077 | T/C | — | — |
| rs147855746 | 3:56,853,145 | G/A | regulatory region variant | — |
| rs1344142 | 3:56,857,433 | T/C | intron variant | — |
| rs77052938 | 3:56,860,712 | T/C | intron variant | — |
| rs9861033 | 3:56,861,222 | A/T | — | — |
| rs12485738 | 3:56,865,776 | A/C | — | — |
| rs187441172 | 3:56,866,485 | T/C | intron variant | — |
| rs1500708 | 3:56,876,596 | T/A | — | — |
| rs570345844 | 3:56,878,463 | C/T | — | — |
| rs142293866 | 3:56,879,959 | C/T | intron variant | — |
| rs554541259 | 3:56,881,894 | C/T | — | — |
| rs146653588 | 3:56,893,096 | C/T | intron variant | — |
| rs7626199 | 3:56,897,363 | T/G | — | — |
| rs148953849 | 3:56,900,718 | G/A | intron variant | — |
| rs185799928 | 3:56,903,963 | A/G | intron variant | — |
| rs12492146 | 3:56,906,190 | G/C | — | — |
| rs540821831 | 3:56,922,705 | T/G | — | — |
| rs4681928 | 3:56,926,166 | A/G | intron variant | — |
| rs147991209 | 3:56,948,451 | A/G | intron variant | — |
| rs138981089 | 3:56,952,623 | A/C | regulatory region variant | — |
| rs150844095 | 3:56,952,754 | T/G | regulatory region variant | — |
| rs56187327 | 3:56,954,620 | A/G | intron variant | — |
| rs192914470 | 3:56,954,720 | A/G | intron variant | — |
| rs2062583 | 3:56,966,246 | G/C | — | — |
| rs35760104 | 3:56,968,541 | A/G | intron variant | — |
| rs571319182 | 3:56,980,895 | C/T | — | — |
| rs13076121 | 3:56,984,281 | G/T | intron variant | — |
| rs535956308 | 3:56,992,910 | G/A | — | uncertain significance |
| rs192513833 | 3:56,998,421 | T/A | downstream gene variant | — |
| rs11920976 | 3:57,034,954 | C/T | intron variant | — |
| rs1872941 | 3:57,082,709 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.