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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
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	Additional Resources	Length
UniProtKB:F1Q597	InterPro	1452
UniProtKB:A0A8M2BF83	InterPro	1248
UniProtKB:A0A8M2BFV4	InterPro	1437
UniProtKB:A0A8M6Z877	InterPro	1407

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	kdm6a-201 (1) Ensembl	Ensembl	4,359 nt	Select Tool ZFIN BLAST
mRNA	kdm6a-203 (1) Ensembl	Ensembl	5,041 nt	Select Tool ZFIN BLAST
ncRNA	kdm6a-002 (1) Ensembl	Ensembl	847 nt	Select Tool ZFIN BLAST

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