KDM6B Chromosome 17
Lysine demethylase 6B
Upload your DNA to see your personal genotypes for variants in KDM6B.
What This Gene Does
The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
Gene Info
Gene Group
Lysine demethylases
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000132510
Associated Conditions (11)
Inborn genetic diseases
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
KDM6B-related disorder
Colon adenocarcinoma
Malignant tumor of esophagus
Acute myeloid leukemia
Malignant tumor of urinary bladder
See cases
Neurodevelopmental abnormality
Neurodevelopmental delay
Intellectual disability
Key Variants
RS140925165
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Inborn genetic diseases
Health Risk
RS1419917079
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
Health Risk
RS142473008
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
Health Risk
RS142934776
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Inborn genetic diseases
Health Risk
RS148641957
Conflicting classifications of pathogenicity
Inborn genetic diseases, KDM6B-related disorder, Colon adenocarcinoma
Health Risk
RS148894687
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199964822
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61462443
Conflicting classifications of pathogenicity
KDM6B-related disorder, KDM6B-related disorder
Health Risk
RS747967832
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751343288
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
Health Risk
RS752366374
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755103814
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (102)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544529151 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544529915 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544529971 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544531959 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544532487 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544532565 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533127 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533330 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533809 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533842 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533899 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544534181 | Health Risk | Likely pathogenic | — |
| RS2544534309 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544534894 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544536305 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544536342 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544536369 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544536378 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544536867 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS760199993 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS761401181 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS988670906 | Health Risk | Likely pathogenic | KDM6B-related disorder, KDM6B-related disorder |
| RS1442099470 | Health Risk | Pathogenic | — |
| RS1567799458 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2078539742 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2078587931 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2078638223 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2151376850 | Health Risk | Pathogenic | See cases, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, See cases |
| RS2151378140 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2151379742 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544521814 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544523614 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544524513 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544526206 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2544526292 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544526812 | Health Risk | Pathogenic | — |
| RS2544533271 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544534176 | Health Risk | Pathogenic | — |
| RS2544534286 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2544536389 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS59062945 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS747555402 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS748243814 | Health Risk | Pathogenic | — |
| RS762876815 | Health Risk | Pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS957520585 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental abnormality |
| RS1597842212 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental delay |
| RS2078705936 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2151379880 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544521866 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Intellectual disability, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544532079 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |