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
Expression
All Expression Data
4 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With kdm6a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Kabuki syndrome Alliance Kabuki syndrome 2 300867
Associated With kdm6a Via Experimental Models
Human Disease Fish Conditions Citations
Kabuki syndrome EKW + MO2-kdm6a standard conditions Tsai et al., 2018
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR003347 JmjC domain
Homologous_superfamily IPR011990 Tetratricopeptide-like helical domain superfamily
Repeat IPR019734 Tetratricopeptide repeat
Domain Details Per Protein
Protein Length JmjC domain Tetratricopeptide-like helical domain superfamily Tetratricopeptide repeat
UniProtKB:F6PBE4 1390
UniProtKB:F1Q597 1452
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations