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 enable RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; chromatin DNA binding activity; and histone H3K27me2/H3K27me3 demethylase activity. Acts upstream of or within several processes, including embryonic morphogenesis; face development; and germ cell migration. Predicted to be located in nucleus. Predicted to be part of MLL3/4 complex. Is expressed in several structures, including blood island; ethmoid cartilage; otic vesicle; pharyngeal arch; and pronephric duct. Used to study Kabuki syndrome. Human ortholog(s) of this gene implicated in several diseases, including Kabuki syndrome; bladder urothelial carcinoma; gastrointestinal system cancer (multiple); lung carcinoma (multiple); and triple-receptor negative breast cancer. Orthologous to human 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
1 - 1 of 1
Associated With kdm6a Via Experimental Models
Human Disease Fish Conditions Citations
Kabuki syndrome EKW + MO2-kdm6a standard conditions Tsai et al., 2018
1 - 1 of 1
Gene Ontology
Protein Domains
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
1 - 5 of 7 Show all
Domain Details Per Protein
Protein Additional Resources 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 InterPro 1452
UniProtKB:A0A8M2BF83 InterPro 1248
UniProtKB:A0A8M2BFV4 InterPro 1437
UniProtKB:A0A8M6Z877 InterPro 1407
1 - 4 of 4
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA kdm6a-201 (1) Ensembl 4,359 nt
mRNA kdm6a-203 (1) Ensembl 5,041 nt
ncRNA kdm6a-002 (1) Ensembl 847 nt
1 - 3 of 3
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