ASH2L
ASH2 Like Histone Lysine Methyltransferase Complex Subunit
Gene Information Card
| Symbol | ASH2L |
|---|---|
| Full Name | ASH2 like histone lysine methyltransferase complex subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 9070 ncbi.nlm.nih.gov/gene/9070 |
| Ensembl ID | ENSG00000104472 |
| UniProt ID | Q9UBL3 |
| OMIM ID | 604782 |
| HGNC ID | 744 |
| Aliases | ASH2, ASH2L1, ASH2L2, Bre2, MLL complex subunit |
Description
ASH2L is a core component of the MLL (mixed lineage leukemia) histone methyltransferase complex, which catalyzes the methylation of histone H3 at lysine 4 (H3K4). This modification is critical for transcriptional activation and epigenetic regulation during development, cell differentiation, and hematopoiesis. ASH2L interacts with other complex members such as WDR5, RBBP5, and DPY30 to enhance the catalytic activity of MLL family methyltransferases. The gene is evolutionarily conserved and essential for embryonic development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | Dysregulation of MLL complex due to ASH2L overexpression or fusion partners | COSMIC, ClinVar |
| Breast cancer | ASH2L overexpression correlates with poor prognosis and increased H3K4 methylation | NCBI Gene, PubMed |
| Neurodevelopmental disorders | De novo missense variants in ASH2L associated with intellectual disability | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Testis | 18.3 | High |
| Brain (cortex) | 8.1 | Low |
| Liver | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HeLa (cervical cancer) | 10.8 | Medium expression |
| HEK293 (embryonic kidney) | 9.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | Rare | Loss of H3K4 methyltransferase activity |
| c.1465G>A (p.Glu489Lys) | Missense | Rare | Impaired complex assembly |
| c.1234_1235insA (p.Thr412Asnfs*2) | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the SPRY domain lead to loss of histone methyltransferase activity.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a gain-of-function by increasing H3K4me3 at oncogenic targets.
Dominant Negative (DN)
Missense mutations in the SPRY domain may produce a dominant-negative effect by sequestering other complex components.
View complete mutation data：
Gene Ontology (GO)
| • histone H3-K4 methylation | • chromatin binding |
| • protein heterodimerization activity | • nucleus |
| • MLL complex |
Pathways
• Histone methylation (H3K4)
• Transcriptional regulation by MLL complex
• Chromatin organization
Protein Summary
ASH2L is a 628-amino-acid protein containing a SPRY domain and a C-terminal acidic region. It functions as a scaffold within the MLL complex, stabilizing interactions between WDR5, RBBP5, and DPY30. The protein is essential for global H3K4 trimethylation and is required for proper embryonic development, stem cell maintenance, and hematopoiesis. Overexpression is observed in several cancers, particularly leukemia and breast cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASH2L Knockout HEK293 Cell Line | EDJ-KQ6450 | Human | 9070 | Details Get a Quote |
| ASH2L Knockout A-549 Cell Line | EDJ-KQ30522 | Human | 9070 | Details Get a Quote |
| ASH2L Knockout HCT 116 Cell Line | EDJ-KQ30523 | Human | 9070 | Details Get a Quote |
| ASH2L Knockout HeLa Cell Line | EDJ-KQ30524 | Human | 9070 | Details Get a Quote |
