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Kdm6b Gene Detail
Summary
  • Symbol
    Kdm6b
  • Name
    KDM1 lysine (K)-specific demethylase 6B
  • Synonyms
    Jmjd3, mKIAA0346
  • Feature Type
    protein coding gene
  • IDs
    MGI:2448492
    NCBI Gene: 216850
  • Alliance
    gene page
  • Transcription Start Sites
    31 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:69289334-69304501 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 42.60 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    226 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2448492
 protein coding gene Chr11:69289334-69311188 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018534
 protein coding gene Chr11:69827087-69844213 (-)
A/J MGP_AJ_G0018502
 protein coding gene Chr11:67200038-67215214 (-)
AKR/J MGP_AKRJ_G0018471
 protein coding gene Chr11:69211532-69221129 (-)
BALB/cJ MGP_BALBcJ_G0018474
 protein coding gene Chr11:67519041-67534202 (-)
C3H/HeJ MGP_C3HHeJ_G0018287
 protein coding gene Chr11:69228511-69244945 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018925
 protein coding gene Chr11:71941015-71957862 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016570
 protein coding gene Chr11:64128899-64143763 (-)
CAST/EiJ MGP_CASTEiJ_G0017842
 protein coding gene Chr11:69464461-69487270 (-)
CBA/J MGP_CBAJ_G0018260
 protein coding gene Chr11:75163302-75180480 (-)
DBA/2J MGP_DBA2J_G0018369
 protein coding gene Chr11:66790963-66805457 (-)
FVB/NJ MGP_FVBNJ_G0018359
 protein coding gene Chr11:66417892-66435294 (-)
LP/J MGP_LPJ_G0018439
 protein coding gene Chr11:70398518-70414702 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018382
 protein coding gene Chr11:75776100-75801729 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018967
 protein coding gene Chr11:69461906-69478102 (-)
PWK/PhJ MGP_PWKPhJ_G0017616
 protein coding gene Chr11:67434074-67456928 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017406
 protein coding gene Chr11:69281359-69298787 (-)
WSB/EiJ MGP_WSBEiJ_G0017896
 protein coding gene Chr11:69138567-69159234 (-)



Homology
more
  • Human Ortholog
    KDM6B, lysine demethylase 6B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KDM6B, lysine demethylase 6B
  • Synonyms
    JMJD3, NEDCFSA, NEDSST
  • Links
    NCBI Gene ID: 23135
    neXtProt AC: NX_O15054
    UniProt: O15054

  • Chr Location
    17p13.1; chr17:7834217-7854796 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human KDM6B associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    51 phenotypes from 9 alleles in 8 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    64 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 null allele show perinatal death, thick alveolar septum, and absence of air space in the lungs. Mice homozygous for a different null allele die neonatally displaying abnormal lung development, dwarfism, kyphosis, short limbs, and a severe delay in endochondral ossification.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    11
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
    757
  • Tissues
    30
  • cDNA Data
    11
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000018476 Ensembl Gene Model | MGI Sequence Detail 15168 C57BL/6J ±  kb
    transcript ENSMUST00000094077 Ensembl | MGI Sequence Detail 6654 Not Applicable  
    polypeptide ENSMUSP00000091620 Ensembl | MGI Sequence Detail 1641 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 11
      Primer pair 2
      Other 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 141
      Developmental Gene Expression 24
      Gene Ontology 11
      Phenotypes 64
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:355056 Salman B, et al., Understanding the Role of the SMN Complex Component GEMIN5 and Its Functional Relationship with Demethylase KDM6B in the Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal Muscular Atrophy. Int J Mol Sci. 2024 Sep 18;25(18)
    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)
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    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