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Kdm6a Gene Detail
Summary
  • Symbol
    Kdm6a
  • Name
    lysine (K)-specific demethylase 6A
  • Synonyms
    Utx
  • Feature Type
    protein coding gene
  • IDs
    MGI:1095419
    NCBI Gene: 22289
  • Gene Overview
    MyGene.info: KDM6A
Location & Maps
more
  • Sequence Map
    ChrX:18162575-18279936 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      117362 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    KDM6A, lysine demethylase 6A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KDM6A, lysine demethylase 6A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bA386N14.2, KABUK2, UTX
  • Links
    NCBI Gene ID: 7403
    neXtProt AC: NX_O15550

  • Chr Location
    Xp11.2; chrX:44873175-45112779 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 7586
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: KDM6A
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with human KDM6A associations

Human Disease Mouse Models
       Kabuki Syndrome 1; KABUK1   OMIM: 147920
Kabuki Syndrome 2; KABUK2   OMIM: 300867
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    67 phenotypes from 11 alleles in 11 genetic backgrounds
    8 phenotypes from multigenic genotypes
    8 images
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    220 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 20
    cDNA 16
    Primer pair 4

    Microarray probesets 6
References
more
  • Summaries
    All 57
    Developmental Gene Expression 12
    Gene Ontology 11
    Phenotypes 20
  • 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:227020 Manna S, et al., Histone H3 Lysine 27 demethylases Jmjd3 and Utx are required for T-cell differentiation. Nat Commun. 2015;6:8152

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory