About   Help   FAQ
Kdm6a
Gene Detail
 Symbol
Name
ID
Kdm6a
lysine (K)-specific demethylase 6A
MGI:1095419
Synonyms Utx
Feature Type protein coding gene
Genetic Map
Chromosome X
13.45 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
ChrX:18162575-18279936 bp, + strand
From VEGA annotation of GRCm38

  117362 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7586  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Kdm6a

Human
homologs
Human Homolog KDM6A, lysine (K)-specific demethylase 6A
NCBI Gene ID 7403
neXtProt AC  NX_O15550
Human Synonyms  bA386N14.2, KABUK2, UTX
Human Chr (Location)  Xp11.2; chrX:44873175-45112779 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human KDM6A
Alleles
and
phenotypes
All alleles(53) : Targeted(14) Gene trapped(39)
 
Mice homozygous for a knock-out allele exhibit embryonic lethality, caudal body truncation, abnormal neural tube closure and abnormal heart development. Mice hemizygous for this allele exhibit perinatal lethality, abnormal neural tube closure, inability to breath, exencephaly and atelectasis.
 
Phenotype Images(8)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process canonical Wnt signaling pathway, chromatin modification, ...
Component histone methyltransferase complex, nucleus
Function dioxygenase activity, histone demethylase activity (H3-K27 specific), ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (55)    Tissues (27)   
Theiler Stages: 2, 3, 4, 5, 21, 28
Assay TypeResults
Northern blot 11
RT-PCR 44
cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(20) cDNA(16) Primer pair(4)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000016960 (Evidence)
Ensembl Gene ModelENSMUSG00000037369 (Evidence)
Entrez Gene22289 (Evidence)
NIA Mouse Gene IndexU019738
EC1.14.11.-
Consensus CDS ProjectCCDS30037.1
International Mouse Knockout Project StatusKdm6a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016960 VEGA Gene Model | MGI Sequence Detail 117362 C57BL/6J ±  kb
transcript OTTMUST00000041259 VEGA | MGI Sequence Detail 5935 Not Applicable 
polypeptide OTTMUSP00000018503 VEGA | MGI Sequence Detail 1424 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(16) UniProt(5)
Polymorphisms RFLP(1) : SNPs within 2kb(220 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003347 JmjC domain
InterPro IPR011990 Tetratricopeptide-like helical
InterPro IPR019734 Tetratricopeptide repeat
InterPro IPR013026 Tetratricopeptide repeat-containing domain
InterPro IPR001440 Tetratricopeptide TPR-1
Protein Ontology PR:000017212 histone demethylase UTX
References (Earliest) J:36994 Greenfield A, et al., An H-YDb epitope is encoded by a novel mouse Y chromosome gene. Nat Genet. 1996 Dec;14(4):474-8
(Latest) J:203762 Burton A, et al., Single-cell profiling of epigenetic modifiers identifies PRDM14 as an inducer of cell fate in the mammalian embryo. Cell Rep. 2013 Nov 14;5(3):687-701
All references(48)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/08/2014
MGI 5.17
The Jackson Laboratory