CCDC62
coiled-coil domain containing 62
Summary
Enables nuclear estrogen receptor binding activity and transcription coactivator activity. Involved in several processes, including cellular response to estradiol stimulus; estrogen receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in acrosomal vesicle and nucleus. Implicated in spermatogenic failure 67. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2500073488 | 12:123,259,233 | G/A | — | likely benign |
| rs1593771046 | 12:123,259,239 | C/T | — | uncertain significance |
| rs538615250 | 12:123,259,248 | C/T | — | uncertain significance |
| rs1196978991 | 12:123,259,252 | A/T | — | uncertain significance |
| rs61956960 | 12:123,262,043 | C/T | — | benign |
| rs758184699 | 12:123,262,102 | T/C | — | uncertain significance |
| rs781307131 | 12:123,262,120 | G/A | — | uncertain significance |
| rs749539297 | 12:123,262,140 | A/G | — | uncertain significance |
| rs139160168 | 12:123,262,185 | C/T | — | uncertain significance |
| rs2500084477 | 12:123,262,200 | A/G | — | uncertain significance |
| rs200927471 | 12:123,262,212 | C/T | — | uncertain significance |
| rs1387723480 | 12:123,265,866 | G/C | — | uncertain significance |
| rs144393165 | 12:123,270,277 | A/C | — | uncertain significance |
| rs1394048060 | 12:123,270,279 | C/T | — | uncertain significance |
| rs1021793710 | 12:123,270,311 | C/T | — | pathogenic |
| rs960928144 | 12:123,270,348 | C/G | — | uncertain significance |
| rs2500110334 | 12:123,270,362 | C/A | — | uncertain significance |
| rs1696319 | 12:123,270,853 | C/A | — | — |
| rs750658685 | 12:123,273,333 | A/G | — | uncertain significance |
| rs754383945 | 12:123,273,348 | C/T | — | uncertain significance |
| rs141243392 | 12:123,273,381 | G/A | — | uncertain significance |
| rs12319160 | 12:123,275,773 | C/A | — | — |
| rs2500128070 | 12:123,276,569 | G/A | — | uncertain significance |
| rs751409749 | 12:123,281,878 | A/G | — | uncertain significance |
| rs146255239 | 12:123,281,892 | G/T | — | uncertain significance |
| rs78361567 | 12:123,282,708 | A/T | — | benign |
| rs774192846 | 12:123,282,719 | A/G | — | uncertain significance |
| rs144122729 | 12:123,283,055 | C/G | intron variant | — |
| rs2031282520 | 12:123,285,763 | A/G | — | uncertain significance |
| rs777883090 | 12:123,285,779 | G/T | — | uncertain significance |
| rs61735889 | 12:123,285,785 | G/A | — | benign |
| rs768051388 | 12:123,285,819 | T/C | — | uncertain significance |
| rs17855031 | 12:123,285,874 | C/T | — | uncertain significance |
| rs141048617 | 12:123,285,978 | A/G | — | uncertain significance |
| rs199705995 | 12:123,286,012 | C/G | — | uncertain significance |
| rs749239981 | 12:123,286,039 | C/G | — | uncertain significance |
| rs768650790 | 12:123,286,051 | C/T | — | uncertain significance |
| rs1301334181 | 12:123,286,155 | G/A | — | uncertain significance |
| rs1258492593 | 12:123,286,180 | C/T | — | uncertain significance |
| rs2547333527 | 12:123,286,239 | T/C | — | uncertain significance |
| rs765144942 | 12:123,286,335 | C/T | — | uncertain significance |
| rs746171063 | 12:123,286,385 | T/A | — | uncertain significance |
| rs754116643 | 12:123,290,835 | A/G | — | likely benign |
| rs12817488 | 12:123,296,294 | G/A | intron variant | — |
| rs371482324 | 12:123,297,871 | C/T | — | uncertain significance |
| rs1174510283 | 12:123,297,937 | C/G | — | uncertain significance |
| rs2547353378 | 12:123,307,941 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.