ABCC4
ATP binding cassette subfamily C member 4 (PEL blood group)
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 family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201869271 | 13:95,673,837 | C/T | — | uncertain significance |
| rs1454130025 | 13:95,673,860 | G/A | — | uncertain significance |
| rs546745281 | 13:95,673,863 | G/A | — | uncertain significance |
| rs756372983 | 13:95,673,911 | T/C | — | uncertain significance |
| rs4148546 | 13:95,680,285 | G/A | intron variant | — |
| rs541526631 | 13:95,685,075 | C/T | — | — |
| rs769378898 | 13:95,686,891 | C/T | — | uncertain significance |
| rs2501617401 | 13:95,695,934 | A/G | — | uncertain significance |
| rs11568695 | 13:95,696,540 | C/G | synonymous variant | — |
| rs11568644 | 13:95,705,380 | G/A | — | likely benign |
| rs1055140634 | 13:95,705,438 | C/T | — | uncertain significance |
| rs9561778 | 13:95,713,715 | G/T | intron variant | — |
| rs1024388256 | 13:95,714,962 | G/A | — | uncertain significance |
| rs1751034 | 13:95,714,976 | C/G | missense variant | — |
| rs751961590 | 13:95,715,041 | C/T | — | uncertain significance |
| rs11568652 | 13:95,715,069 | G/T | — | likely benign |
| rs2501706201 | 13:95,715,095 | T/A | — | uncertain significance |
| rs1468050109 | 13:95,724,071 | G/C | — | uncertain significance |
| rs2501754960 | 13:95,725,465 | T/G | — | uncertain significance |
| rs2501755029 | 13:95,725,480 | T/G | — | uncertain significance |
| rs766299246 | 13:95,726,533 | C/T | — | uncertain significance |
| rs1039728112 | 13:95,726,534 | G/A | — | uncertain significance |
| rs775316511 | 13:95,727,748 | C/T | — | uncertain significance |
| rs769663620 | 13:95,727,803 | G/C | — | uncertain significance |
| rs781305510 | 13:95,735,408 | C/A | — | uncertain significance |
| rs746006291 | 13:95,735,425 | C/T | — | likely benign |
| rs139970608 | 13:95,735,484 | T/C | — | benign |
| rs2501802401 | 13:95,735,493 | A/C | — | uncertain significance |
| rs778084933 | 13:95,768,195 | G/A | — | uncertain significance |
| rs16950650 | 13:95,775,432 | C/T | intron variant | — |
| rs531871363 | 13:95,782,143 | A/G | — | — |
| rs778266348 | 13:95,813,535 | T/C | — | uncertain significance |
| rs3765534 | 13:95,815,415 | C/T | missense variant | — |
| rs9282570 | 13:95,815,454 | T/C | — | benign |
| rs201327449 | 13:95,816,700 | T/A | — | uncertain significance |
| rs11568666 | 13:95,816,707 | G/A | — | benign |
| rs372399293 | 13:95,818,411 | C/A | — | uncertain significance |
| rs768299533 | 13:95,818,428 | G/A | — | uncertain significance |
| rs143045806 | 13:95,818,460 | T/C | — | likely benign |
| rs2502182794 | 13:95,818,588 | A/G | — | uncertain significance |
| rs11568696 | 13:95,818,628 | T/C | — | benign |
| rs11568664 | 13:95,822,873 | A/G | — | likely benign |
| rs1729786 | 13:95,823,239 | C/A | — | — |
| rs2502244902 | 13:95,829,986 | C/T | — | uncertain significance |
| rs193921134 | 13:95,830,043 | C/A | — | uncertain significance |
| rs2037769908 | 13:95,830,337 | C/A | — | uncertain significance |
| rs758427824 | 13:95,838,974 | T/G | — | uncertain significance |
| rs11568669 | 13:95,839,008 | T/C | — | likely benign |
| rs11568668 | 13:95,839,040 | C/T | missense variant | — |
| rs11568670 | 13:95,839,042 | C/T | — | likely benign |
| rs759986076 | 13:95,839,047 | A/C | — | uncertain significance |
| rs780641880 | 13:95,840,759 | G/A | — | uncertain significance |
| rs11568705 | 13:95,847,145 | G/A | — | likely benign |
| rs765738938 | 13:95,847,167 | A/C | — | uncertain significance |
| rs761006351 | 13:95,858,890 | C/T | — | uncertain significance |
| rs1209848839 | 13:95,860,085 | A/G | — | uncertain significance |
| rs772669285 | 13:95,860,169 | C/G | — | uncertain significance |
| rs2038890259 | 13:95,861,802 | G/A | — | uncertain significance |
| rs11568678 | 13:95,861,865 | — | — | — |
| rs1157032669 | 13:95,862,960 | T/G | — | uncertain significance |
| rs779130429 | 13:95,862,996 | T/C | — | uncertain significance |
| rs11568658 | 13:95,863,008 | C/A | missense variant | — |
| rs45454092 | 13:95,863,016 | A/G | — | likely benign |
| rs765169776 | 13:95,863,028 | C/T | — | uncertain significance |
| rs267603866 | 13:95,863,029 | G/A | — | uncertain significance |
| rs1926657 | 13:95,874,956 | T/A | — | — |
| rs45610534 | 13:95,887,098 | G/A | — | likely benign |
| rs9524862 | 13:95,894,627 | G/C | — | — |
| rs7324464 | 13:95,896,499 | A/T | — | — |
| rs4148441 | 13:95,898,207 | A/G | intron variant | — |
| rs548353161 | 13:95,899,254 | A/G | — | uncertain significance |
| rs373968598 | 13:95,899,289 | T/G | — | uncertain significance |
| rs942624721 | 13:95,899,312 | C/T | — | uncertain significance |
| rs4148435 | 13:95,899,716 | C/T | — | — |
| rs11568700 | 13:95,899,890 | G/A | — | benign |
| rs747434414 | 13:95,899,931 | C/A | — | uncertain significance |
| rs1334678519 | 13:95,899,950 | C/T | — | uncertain significance |
| rs548346396 | 13:95,915,978 | G/A | — | — |
| rs8002180 | 13:95,922,765 | T/C | intron variant | — |
| rs2389233 | 13:95,929,796 | T/G | — | — |
| rs529494389 | 13:95,945,515 | G/A | — | — |
| rs1594470734 | 13:95,953,530 | C/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.