ABCC5
ATP binding cassette subfamily C member 5
Summary
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs562 | 3:183,637,845 | T/A | — | — |
| rs553921855 | 3:183,639,102 | C/T | — | uncertain significance |
| rs2473677492 | 3:183,643,408 | T/A | — | uncertain significance |
| rs774086967 | 3:183,645,161 | C/T | — | uncertain significance |
| rs754115665 | 3:183,646,552 | T/C | — | uncertain significance |
| rs2473689564 | 3:183,646,563 | G/C | — | uncertain significance |
| rs749079691 | 3:183,655,690 | T/C | — | uncertain significance |
| rs377607475 | 3:183,655,701 | C/A | — | uncertain significance |
| rs2473733807 | 3:183,660,545 | T/G | — | uncertain significance |
| rs750201318 | 3:183,660,601 | C/T | — | likely benign |
| rs1178441464 | 3:183,660,664 | G/A | — | uncertain significance |
| rs1346511410 | 3:183,660,676 | A/C | — | uncertain significance |
| rs547166914 | 3:183,663,723 | G/A | — | uncertain significance |
| rs150912353 | 3:183,667,555 | C/T | — | benign |
| rs28365015 | 3:183,667,565 | T/C | — | likely benign |
| rs754468895 | 3:183,667,659 | G/A | — | uncertain significance |
| rs781403637 | 3:183,667,770 | T/A | — | uncertain significance |
| rs1040057253 | 3:183,667,787 | A/G | — | uncertain significance |
| rs753641345 | 3:183,667,845 | C/G | — | uncertain significance |
| rs199959386 | 3:183,669,276 | G/T | — | uncertain significance |
| rs766169066 | 3:183,669,303 | C/T | — | uncertain significance |
| rs28365026 | 3:183,669,759 | C/T | — | likely benign |
| rs750734382 | 3:183,670,876 | C/T | — | uncertain significance |
| rs2473771683 | 3:183,670,957 | T/A | — | uncertain significance |
| rs201817590 | 3:183,671,023 | A/C | — | uncertain significance |
| rs56889301 | 3:183,675,315 | T/A | — | — |
| rs780239386 | 3:183,677,527 | C/T | — | uncertain significance |
| rs370164145 | 3:183,677,620 | T/C | — | uncertain significance |
| rs1401999 | 3:183,678,342 | C/G | intron variant | — |
| rs2473812609 | 3:183,681,186 | G/A | — | uncertain significance |
| rs2271936 | 3:183,682,695 | T/C | intron variant | — |
| rs1477176544 | 3:183,682,990 | T/C | — | uncertain significance |
| rs1339802955 | 3:183,683,174 | T/C | — | uncertain significance |
| rs386352272 | 3:183,683,198 | T/C | — | uncertain significance |
| rs747031919 | 3:183,683,216 | T/C | — | uncertain significance |
| rs939336 | 3:183,685,534 | A/G | — | benign |
| rs1211387739 | 3:183,689,385 | C/T | — | uncertain significance |
| rs199723380 | 3:183,689,394 | C/T | — | uncertain significance |
| rs770360800 | 3:183,689,449 | C/T | — | uncertain significance |
| rs28365011 | 3:183,689,610 | G/T | — | likely benign |
| rs751011356 | 3:183,696,308 | C/T | — | uncertain significance |
| rs747781456 | 3:183,696,317 | G/C | — | uncertain significance |
| rs749105591 | 3:183,696,344 | C/T | — | uncertain significance |
| rs370934485 | 3:183,696,421 | C/T | — | uncertain significance |
| rs200118977 | 3:183,700,316 | T/C | — | uncertain significance |
| rs2473881126 | 3:183,700,342 | C/T | — | uncertain significance |
| rs767283373 | 3:183,700,402 | A/G | — | uncertain significance |
| rs28365007 | 3:183,700,552 | C/T | — | benign |
| rs767886323 | 3:183,700,635 | C/T | — | uncertain significance |
| rs775296386 | 3:183,700,653 | C/T | — | uncertain significance |
| rs2473883149 | 3:183,700,716 | C/T | — | uncertain significance |
| rs369277426 | 3:183,700,759 | C/T | — | uncertain significance |
| rs76295081 | 3:183,703,189 | A/G | — | benign |
| rs939338 | 3:183,704,068 | G/C | — | — |
| rs1457457024 | 3:183,705,609 | G/C | — | uncertain significance |
| rs369474962 | 3:183,705,631 | A/T | — | uncertain significance |
| rs778054659 | 3:183,705,643 | C/T | — | uncertain significance |
| rs749531253 | 3:183,705,646 | C/T | — | uncertain significance |
| rs2473907947 | 3:183,705,659 | C/T | — | uncertain significance |
| rs758738224 | 3:183,706,383 | C/G | — | uncertain significance |
| rs200810558 | 3:183,706,444 | C/T | — | uncertain significance |
| rs776709239 | 3:183,706,445 | G/A | — | uncertain significance |
| rs745692602 | 3:183,707,081 | C/T | — | uncertain significance |
| rs4148568 | 3:183,723,021 | C/T | upstream gene variant | — |
| rs144432230 | 3:183,732,068 | A/G | — | uncertain significance |
| rs2474027294 | 3:183,732,170 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.