KLHL3
kelch like family member 3
Summary
This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
Known Variants259 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1046477612 | 5:136,953,349 | G/A | — | uncertain significance |
| rs185010344 | 5:136,953,366 | G/A | — | benign |
| rs886059935 | 5:136,953,423 | T/C | — | uncertain significance |
| rs757402685 | 5:136,953,431 | C/A | — | uncertain significance |
| rs768556632 | 5:136,953,530 | T/C | — | uncertain significance |
| rs6863414 | 5:136,953,577 | C/T | — | benign |
| rs935025525 | 5:136,953,585 | C/G | — | uncertain significance |
| rs914974414 | 5:136,953,602 | C/T | — | uncertain significance |
| rs946477406 | 5:136,953,621 | A/G | — | uncertain significance |
| rs998471655 | 5:136,953,707 | G/A | — | uncertain significance |
| rs544519958 | 5:136,953,721 | G/A | — | conflicting classifications of pathogenicity |
| rs142781557 | 5:136,953,722 | G/A | — | likely benign |
| rs150624383 | 5:136,953,781 | G/A | — | likely benign |
| rs886059936 | 5:136,953,867 | A/C | — | uncertain significance |
| rs529462576 | 5:136,953,874 | T/A | — | uncertain significance |
| rs60066928 | 5:136,954,089 | C/T | — | benign |
| rs886059937 | 5:136,954,314 | A/G | — | uncertain significance |
| rs1031836495 | 5:136,954,377 | A/C | — | uncertain significance |
| rs886059940 | 5:136,954,516 | T/C | — | uncertain significance |
| rs145507791 | 5:136,954,543 | C/A | — | benign |
| rs1425878478 | 5:136,954,581 | T/A | — | uncertain significance |
| rs35251512 | 5:136,954,582 | T/A | — | benign |
| rs4835684 | 5:136,954,583 | T/A | — | uncertain significance |
| rs147801381 | 5:136,954,659 | G/C | — | likely benign |
| rs3813314 | 5:136,954,719 | T/C | — | benign |
| rs373499483 | 5:136,954,736 | C/T | — | uncertain significance |
| rs767931459 | 5:136,954,796 | A/G | — | uncertain significance |
| rs753164963 | 5:136,954,846 | C/T | — | uncertain significance |
| rs3813315 | 5:136,954,861 | G/A | — | benign |
| rs1027988431 | 5:136,954,901 | T/C | — | uncertain significance |
| rs141261117 | 5:136,954,982 | T/C | — | likely benign |
| rs550345984 | 5:136,955,024 | G/A | — | uncertain significance |
| rs919793461 | 5:136,955,095 | G/A | — | uncertain significance |
| rs186283051 | 5:136,955,100 | G/A | — | likely benign |
| rs938695444 | 5:136,955,140 | G/A | — | uncertain significance |
| rs573842978 | 5:136,955,302 | A/C | — | likely benign |
| rs886059944 | 5:136,955,315 | T/G | — | uncertain significance |
| rs886059945 | 5:136,955,339 | G/A | — | uncertain significance |
| rs3813316 | 5:136,955,383 | G/T | — | benign |
| rs533076689 | 5:136,955,427 | C/T | — | conflicting classifications of pathogenicity |
| rs181120455 | 5:136,955,450 | T/C | — | uncertain significance |
| rs140696146 | 5:136,955,520 | A/T | — | likely benign |
| rs3813317 | 5:136,955,539 | G/A | — | likely benign |
| rs886059946 | 5:136,955,619 | A/G | — | uncertain significance |
| rs886059947 | 5:136,955,631 | T/C | — | uncertain significance |
| rs182886272 | 5:136,955,699 | G/A | — | uncertain significance |
| rs3813318 | 5:136,955,707 | G/T | — | benign |
| rs886059948 | 5:136,955,764 | C/G | — | uncertain significance |
| rs1161753727 | 5:136,955,868 | G/T | — | uncertain significance |
| rs534983852 | 5:136,955,871 | C/T | — | uncertain significance |
| rs75344015 | 5:136,955,891 | C/A | — | likely benign |
| rs1756356732 | 5:136,955,941 | G/T | — | uncertain significance |
| rs375193765 | 5:136,956,130 | C/T | — | uncertain significance |
| rs577834025 | 5:136,956,136 | G/A | — | conflicting classifications of pathogenicity |
| rs554048189 | 5:136,956,204 | G/A | — | conflicting classifications of pathogenicity |
| rs149596381 | 5:136,956,336 | T/C | — | likely benign |
| rs886059949 | 5:136,956,353 | A/C | — | uncertain significance |
| rs2057680 | 5:136,956,477 | G/A | — | benign |
| rs962095157 | 5:136,956,659 | T/G | — | uncertain significance |
| rs1282412666 | 5:136,956,663 | A/G | — | uncertain significance |
| rs141393967 | 5:136,956,681 | C/A | — | likely benign |
| rs7444370 | 5:136,956,683 | C/T | — | benign |
| rs886059950 | 5:136,956,732 | T/C | — | uncertain significance |
| rs886059951 | 5:136,956,753 | G/A | — | uncertain significance |
| rs925746719 | 5:136,956,834 | T/C | — | uncertain significance |
| rs572765305 | 5:136,956,997 | C/T | — | conflicting classifications of pathogenicity |
| rs886059952 | 5:136,957,039 | A/G | — | uncertain significance |
| rs1750293151 | 5:136,957,106 | G/A | — | uncertain significance |
| rs886059954 | 5:136,957,248 | C/T | — | uncertain significance |
| rs886059955 | 5:136,957,286 | A/G | — | uncertain significance |
| rs886059956 | 5:136,957,306 | C/T | — | uncertain significance |
| rs539132895 | 5:136,957,488 | C/T | — | conflicting classifications of pathogenicity |
| rs536807069 | 5:136,957,563 | C/A | — | conflicting classifications of pathogenicity |
| rs1378746793 | 5:136,957,613 | G/C | — | uncertain significance |
| rs886059957 | 5:136,957,638 | C/T | — | uncertain significance |
| rs189064290 | 5:136,957,646 | G/A | — | conflicting classifications of pathogenicity |
| rs147305829 | 5:136,957,679 | C/T | — | likely benign |
| rs762735618 | 5:136,957,748 | C/T | — | conflicting classifications of pathogenicity |
| rs2479908307 | 5:136,957,804 | T/C | — | uncertain significance |
| rs143861173 | 5:136,957,808 | G/A | — | likely benign |
| rs11950275 | 5:136,961,171 | G/A | — | benign |
| rs2074344 | 5:136,961,400 | T/C | — | benign |
| rs2074345 | 5:136,961,413 | G/A | — | benign |
| rs2479917963 | 5:136,961,426 | G/A | — | likely benign |
| rs1750443613 | 5:136,961,452 | C/T | — | uncertain significance |
| rs199469646 | 5:136,961,454 | G/A | missense variant | pathogenic |
| rs1469600757 | 5:136,961,456 | C/T | — | uncertain significance |
| rs371683196 | 5:136,961,471 | G/A | — | uncertain significance |
| rs375871642 | 5:136,961,483 | G/A | — | uncertain significance |
| rs2149876234 | 5:136,961,485 | C/T | — | likely pathogenic |
| rs199533740 | 5:136,961,504 | T/C | — | uncertain significance |
| rs199469645 | 5:136,961,507 | T/C | missense variant | pathogenic |
| rs201415688 | 5:136,961,517 | C/T | — | uncertain significance |
| rs2149876263 | 5:136,961,523 | C/A | — | uncertain significance |
| rs1750447058 | 5:136,961,528 | T/G | — | uncertain significance |
| rs1064796864 | 5:136,961,552 | A/G | — | uncertain significance |
| rs17171525 | 5:136,961,566 | A/C | — | benign |
| rs749298481 | 5:136,961,574 | C/T | — | uncertain significance |
| rs79996949 | 5:136,963,746 | G/A | — | benign |
| rs2349008 | 5:136,963,757 | C/G | — | benign |
Showing 100 of 259 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.