KDM4B Chromosome 19
Lysine demethylase 4B
Upload your DNA to see your personal genotypes for variants in KDM4B.
What This Gene Does
Enables histone H3K36 demethylase activity and histone H3K9me2/H3K9me3 demethylase activity. Predicted to be involved in brain development; chromatin remodeling; and regulation of gene expression. Located in cytosol and nucleoplasm. Implicated in autosomal dominant intellectual developmental disorder 65; breast cancer; colorectal cancer; malignant peripheral nerve sheath tumor; and stomach cancer. Biomarker of several diseases, including alopecia areata; lung cancer; medulloblastoma; prostate cancer; and stomach cancer. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"PHD finger proteins|Lysine demethylases|Tudor domain containing"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000127663
Associated Conditions (8)
Syndromic global developmental delay
Intellectual developmental disorder
autosomal dominant 65
Inborn genetic diseases
KDM4B-related disorder
See cases
Neurodevelopmental disorder
Neurodevelopmental delay
Key Variants
RS1395918076
Conflicting classifications of pathogenicity
Syndromic global developmental delay, Intellectual developmental disorder, autosomal dominant 65
Health Risk
RS143239564
Conflicting classifications of pathogenicity
Inborn genetic diseases, KDM4B-related disorder, Inborn genetic diseases
Health Risk
RS144327370
Conflicting classifications of pathogenicity
KDM4B-related disorder, Inborn genetic diseases, KDM4B-related disorder
Health Risk
RS201358147
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS2512147217
Conflicting classifications of pathogenicity
Health Risk
RS368897143
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772198378
Conflicting classifications of pathogenicity
Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder
Health Risk
RS1231991589
Likely pathogenic
Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder
Health Risk
RS1432451428
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151146933
Likely pathogenic
Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder
Health Risk
RS2039634438
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2039680672
Likely pathogenic
Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1395918076 | Health Risk | Conflicting classifications of pathogenicity | Syndromic global developmental delay, Intellectual developmental disorder, autosomal dominant 65 |
| RS143239564 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, KDM4B-related disorder, Inborn genetic diseases |
| RS144327370 | Health Risk | Conflicting classifications of pathogenicity | KDM4B-related disorder, Inborn genetic diseases, KDM4B-related disorder |
| RS201358147 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS2512147217 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368897143 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772198378 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS1231991589 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS1432451428 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS151146933 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2039634438 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2039680672 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2145667857 | Health Risk | Likely pathogenic | — |
| RS2146018043 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2146060644 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2512130849 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2512151147 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2512166678 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2512537089 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2512571434 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2512571628 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS746714213 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS748669919 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2145822607 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2146057065 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2146074788 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |
| RS2512133290 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 65, Intellectual developmental disorder |