ASH2L ASH2 like, histone lysine methyltransferase complex subunit
Gene ID: 9070, updated on 10-Oct-2024Gene type: protein coding
Also known as: ASH2; Bre2; ASH2L1; ASH2L2
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- Go to complete Gene record for ASH2L
- Go to Variation Viewer for ASH2L variants
Summary
Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Contributes to histone methyltransferase activity (H3-K4 specific). Involved in histone H3-K4 methylation; positive regulation of cell population proliferation; and response to estrogen. Acts upstream of or within cellular response to DNA damage stimulus. Located in nucleus. Part of MLL3/4 complex and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of early menopause and the combined impact of identified variants. GeneReviews: Not available | |
| Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. GeneReviews: Not available |
Genomic context
- Location:
- 8p11.23
- Sequence:
- Chromosome: 8; NC_000008.11 (38105493..38140080)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ASH2L variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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