Gene
kdm6a
- ID
- ZDB-GENE-081105-56
- Name
- lysine (K)-specific demethylase 6A
- Symbol
- kdm6a Nomenclature History
- Previous Names
-
- si:ch211-222m21.1
- utx-a (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; chromatin DNA binding activity; and histone demethylase activity (H3-K27 specific). Involved in several processes, including embryonic morphogenesis; face development; and germ cell migration. Predicted to localize to MLL3/4 complex and nuclear chromatin. Used to study Kabuki syndrome. Human ortholog(s) of this gene implicated in Kabuki syndrome; acute lymphoblastic leukemia; and esophagus squamous cell carcinoma. Is expressed in several structures, including blood island; ethmoid cartilage; otic vesicle; pharyngeal arch; and pronephric duct. Orthologous to several human genes including KDM6A (lysine demethylase 6A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Kabuki syndrome | Alliance | Kabuki syndrome 2 | 300867 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Kabuki syndrome | EKW + MO2-kdm6a | standard conditions | Tsai et al., 2018 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003347 | JmjC domain |
| Domain | IPR048560 | Lysine-specific demethylase 6A/B-like, GATA-like |
| Domain | IPR048562 | Lysine-specific demethylase 6A/B-like, C-terminal helical domain |
| Family | IPR051630 | Transcriptional Corepressor and Histone Demethylase |
| Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
| Homologous_superfamily | IPR046941 | Lysine-specific demethylase 6, GATA-like domain superfamily |
| Repeat | IPR019734 | Tetratricopeptide repeat |
Domain Details Per Protein
| Protein | Length | JmjC domain | Lysine-specific demethylase 6A/B-like, C-terminal helical domain | Lysine-specific demethylase 6A/B-like, GATA-like | Lysine-specific demethylase 6, GATA-like domain superfamily | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat | Transcriptional Corepressor and Histone Demethylase |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1Q597
|
1452 | |||||||
|
UniProtKB:A0A8M2BF83
|
1248 | |||||||
|
UniProtKB:A0A8M2BFV4
|
1437 | |||||||
|
UniProtKB:A0A8M6Z877
|
1407 |
Interactions and Pathways
No data available
Plasmids
No data available