KDM4A
lysine demethylase 4A
Summary
This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs660899 | 1:44,117,006 | G/T | regulatory region variant | — |
| rs140577325 | 1:44,118,876 | C/T | — | benign |
| rs559258853 | 1:44,118,890 | T/C | — | uncertain significance |
| rs113523308 | 1:44,118,894 | C/A | — | benign |
| rs745322540 | 1:44,118,968 | G/A | — | uncertain significance |
| rs640762 | 1:44,121,351 | G/T | — | benign |
| rs2547413957 | 1:44,121,389 | A/G | — | uncertain significance |
| rs2274465 | 1:44,121,557 | C/G | regulatory region variant | — |
| rs1248125156 | 1:44,126,009 | C/T | — | uncertain significance |
| rs762616511 | 1:44,126,035 | C/A | — | uncertain significance |
| rs140820309 | 1:44,128,589 | C/T | — | uncertain significance |
| rs377077968 | 1:44,128,661 | C/G | — | uncertain significance |
| rs669446 | 1:44,129,779 | A/C | — | — |
| rs995781690 | 1:44,131,371 | T/A | — | uncertain significance |
| rs759387961 | 1:44,132,727 | C/T | — | uncertain significance |
| rs759547621 | 1:44,132,749 | A/G | — | uncertain significance |
| rs2547423894 | 1:44,133,549 | T/C | — | uncertain significance |
| rs1478111127 | 1:44,133,555 | A/G | — | uncertain significance |
| rs1394058581 | 1:44,133,621 | A/G | — | uncertain significance |
| rs74070653 | 1:44,133,647 | A/G | — | benign |
| rs3791033 | 1:44,134,077 | T/C | intron variant | — |
| rs773852936 | 1:44,134,785 | G/A | — | uncertain significance |
| rs2547425042 | 1:44,134,824 | C/T | — | uncertain significance |
| rs144871235 | 1:44,134,900 | G/A | — | likely benign |
| rs190357001 | 1:44,134,940 | C/T | — | uncertain significance |
| rs777593264 | 1:44,134,941 | G/A | — | uncertain significance |
| rs35317523 | 1:44,137,291 | G/A | — | benign |
| rs1418482222 | 1:44,137,302 | G/A | — | uncertain significance |
| rs375615103 | 1:44,137,304 | C/T | — | uncertain significance |
| rs538082991 | 1:44,137,364 | C/T | — | uncertain significance |
| rs758462057 | 1:44,137,379 | T/G | — | uncertain significance |
| rs1269439984 | 1:44,137,397 | G/A | — | uncertain significance |
| rs150381773 | 1:44,137,406 | T/C | — | uncertain significance |
| rs192175863 | 1:44,137,428 | C/T | — | uncertain significance |
| rs753347514 | 1:44,137,541 | G/A | — | uncertain significance |
| rs9787076 | 1:44,141,149 | A/C | intron variant | — |
| rs1660909200 | 1:44,149,392 | A/G | — | uncertain significance |
| rs141679111 | 1:44,149,406 | C/T | — | uncertain significance |
| rs1323823150 | 1:44,156,528 | G/A | — | uncertain significance |
| rs774525009 | 1:44,156,631 | C/T | — | uncertain significance |
| rs767483636 | 1:44,156,640 | A/G | — | uncertain significance |
| rs757318540 | 1:44,157,185 | C/T | — | uncertain significance |
| rs747618804 | 1:44,157,192 | G/T | — | uncertain significance |
| rs532436936 | 1:44,157,224 | C/T | — | uncertain significance |
| rs751935212 | 1:44,160,429 | T/C | — | uncertain significance |
| rs1157865074 | 1:44,163,518 | C/T | — | uncertain significance |
| rs778897739 | 1:44,163,541 | A/T | — | uncertain significance |
| rs1661280712 | 1:44,163,544 | G/A | — | uncertain significance |
| rs747009449 | 1:44,163,577 | G/A | — | uncertain significance |
| rs967668303 | 1:44,163,605 | G/T | — | uncertain significance |
| rs1387622526 | 1:44,163,613 | A/G | — | uncertain significance |
| rs192676090 | 1:44,164,994 | G/A | — | — |
| rs2547449867 | 1:44,169,338 | A/T | — | uncertain significance |
| rs141095575 | 1:44,169,368 | A/G | — | likely benign |
| rs75989068 | 1:44,169,417 | G/A | — | benign |
| rs994500438 | 1:44,169,946 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.