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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:18028814-18146175 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 13.45 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1846 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1095419
 protein coding gene ChrX:18027101-18147061 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035585
 protein coding gene ChrX:13043513-13167203 (+)
A/J MGP_AJ_G0035562
 protein coding gene ChrX:13170898-13304462 (+)
AKR/J MGP_AKRJ_G0035494
 protein coding gene ChrX:13568152-13689765 (+)
BALB/cJ MGP_BALBcJ_G0035555
 protein coding gene ChrX:12916140-13034641 (+)
C3H/HeJ MGP_C3HHeJ_G0035272
 protein coding gene ChrX:13172230-13301195 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036090
 protein coding gene ChrX:13358433-13486033 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032955
 protein coding gene ChrX:11558936-11663496 (+)
CAST/EiJ MGP_CASTEiJ_G0034564
 protein coding gene ChrX:12719800-12855211 (+)
CBA/J MGP_CBAJ_G0035241
 protein coding gene ChrX:13975036-14110237 (+)
DBA/2J MGP_DBA2J_G0035393
 protein coding gene ChrX:12933084-13053787 (+)
FVB/NJ MGP_FVBNJ_G0035340
 protein coding gene ChrX:12852881-12977779 (+)
LP/J MGP_LPJ_G0035475
 protein coding gene ChrX:13347914-13472984 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035384
 protein coding gene ChrX:14098573-14272436 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036097
 protein coding gene ChrX:12965454-13085372 (+)
PWK/PhJ MGP_PWKPhJ_G0034265
 protein coding gene ChrX:12271075-12390344 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034104
 protein coding gene ChrX:13010555-13134230 (+)
WSB/EiJ MGP_WSBEiJ_G0034699
 protein coding gene ChrX:12908557-13033779 (+)



Homology
more
  • Human Ortholog
    KDM6A, lysine demethylase 6A
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KDM6A, lysine demethylase 6A
  • Synonyms
    bA386N14.2, KABUK2, UTX
  • Links
    NCBI Gene ID: 7403
    neXtProt AC: NX_O15550
    UniProt: O15550

  • Chr Location
    Xp11.3; chrX:44873188-45112779 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Kdm6a mouse models; 12 with human KDM6A associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    81 phenotypes from 13 alleles in 15 genetic backgrounds
    20 phenotypes from multigenic genotypes
    8 images
    81 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
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
less
  • All GO Annotations
    59
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    774
  • Tissues
    26
  • cDNA Data
    18
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037369 Ensembl Gene Model | MGI Sequence Detail 117362 C57BL/6J ±  kb
    transcript ENSMUST00000052368 Ensembl | MGI Sequence Detail 5935 Not Applicable  
    polypeptide ENSMUSP00000061539 Ensembl | MGI Sequence Detail 1424 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • Protein Ontology
      PR:000017212 lysine-specific demethylase 6A
      (term hierarchy)
    • EC
      1.14.11.68
    • InterPro Domains
      IPR003347 JmjC domain
      IPR048562 Lysine-specific demethylase 6A/B-like, C-terminal helical domain
      IPR048560 Lysine-specific demethylase 6A/B-like, GATA-like
      IPR046941 Lysine-specific demethylase 6, GATA-like domain superfamily
      IPR011990 Tetratricopeptide-like helical domain superfamily
      IPR019734 Tetratricopeptide repeat
      IPR051630 Transcriptional Corepressor and Histone Demethylase
    • GlyGen
      O70546 5 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (4 sites)
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 18
      Primer pair 6

      Microarray probesets 6
    References
    more
    • Summaries
      All 131
      Developmental Gene Expression 24
      Diseases 1
      Gene Ontology 12
      Phenotypes 81
    • 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:352051 Liu Y, et al., Extracellular vesicles from UTX-knockout endothelial cells boost neural stem cell differentiation in spinal cord injury. Cell Commun Signal. 2024 Feb 29;22(1):155
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory