ASH2L
ASH2 like, histone lysine methyltransferase complex subunit
Summary
Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2486808318 | 8:37,963,079 | C/A | — | uncertain significance |
| rs745453407 | 8:37,963,097 | A/C | — | likely benign |
| rs2486809837 | 8:37,963,157 | G/T | — | uncertain significance |
| rs987284851 | 8:37,963,172 | T/C | — | uncertain significance |
| rs2486810042 | 8:37,963,175 | C/T | — | likely benign |
| rs1320603140 | 8:37,963,231 | C/T | — | uncertain significance |
| rs1316118279 | 8:37,963,243 | G/A | — | uncertain significance |
| rs1810434379 | 8:37,963,908 | G/T | — | uncertain significance |
| rs369991556 | 8:37,963,921 | G/A | — | uncertain significance |
| rs989786690 | 8:37,964,620 | G/A | — | uncertain significance |
| rs149680046 | 8:37,968,307 | C/G | — | uncertain significance |
| rs1810803230 | 8:37,971,795 | T/C | — | uncertain significance |
| rs772750976 | 8:37,972,499 | A/C | — | uncertain significance |
| rs762074813 | 8:37,974,174 | A/G | — | uncertain significance |
| rs2517388 | 8:37,977,732 | T/G | regulatory region variant | — |
| rs754237283 | 8:37,978,587 | G/C | — | uncertain significance |
| rs1360535801 | 8:37,978,625 | G/A | — | uncertain significance |
| rs2720044 | 8:37,980,587 | A/G | — | — |
| rs759088902 | 8:37,985,889 | G/A | — | uncertain significance |
| rs2486967451 | 8:37,986,294 | T/C | — | uncertain significance |
| rs779252951 | 8:37,991,054 | C/T | — | uncertain significance |
| rs1802224491 | 8:37,993,229 | A/G | — | uncertain significance |
| rs1585612108 | 8:37,993,261 | A/G | — | uncertain significance |
| rs1060499744 | 8:37,996,340 | A/G | missense variant | pathogenic |
| rs2487035278 | 8:37,996,352 | C/T | — | uncertain significance |
| rs766869919 | 8:37,996,365 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.