KDM3B Chromosome 5

Lysine demethylase 3B

37 variants 37 Health Risk

Upload your DNA to see your personal genotypes for variants in KDM3B.

What This Gene Does

Predicted to enable chromatin DNA binding activity; histone H3K9 demethylase activity; and transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. Biomarker of acute lymphoblastic leukemia; breast cancer; colorectal cancer; and lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

Lysine demethylases

Locus Type

gene with protein product

Location

5q31.2

Ensembl

ENSG00000120733

Associated Conditions (10)

KDM3B-related disorder

Inborn genetic diseases

Developmental disorder

Diets-Jongmans syndrome

See cases

Autism spectrum disorder

Neurodevelopmental disorder

Neurodevelopmental delay

Rare genetic intellectual disability

Rare genetic epilepsy

Key Variants

RS138862008

Conflicting classifications of pathogenicity

Health Risk

RS1401249843

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS143446358

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS2126952144

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS2126994153

Conflicting classifications of pathogenicity

Developmental disorder, Developmental disorder

Health Risk

RS2480217243

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS2480236305

Conflicting classifications of pathogenicity

Inborn genetic diseases, Diets-Jongmans syndrome, Inborn genetic diseases

Health Risk

RS370533044

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS748316978

Conflicting classifications of pathogenicity

Diets-Jongmans syndrome, Inborn genetic diseases, Diets-Jongmans syndrome

Health Risk

RS759653444

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

Health Risk

Diets-Jongmans syndrome, Diets-Jongmans syndrome

Health Risk

All Variants (37)

RSID	Category	Clinical Significance	Conditions
RS138862008	Health Risk	Conflicting classifications of pathogenicity	KDM3B-related disorder, Inborn genetic diseases, KDM3B-related disorder
RS1401249843	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS143446358	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS2126952144	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS2126994153	Health Risk	Conflicting classifications of pathogenicity	Developmental disorder, Developmental disorder
RS2480217243	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS2480236305	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Diets-Jongmans syndrome, Inborn genetic diseases
RS370533044	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS748316978	Health Risk	Conflicting classifications of pathogenicity	Diets-Jongmans syndrome, Inborn genetic diseases, Diets-Jongmans syndrome
RS759653444	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1561792565	Health Risk	Likely pathogenic	KDM3B-related disorder, KDM3B-related disorder
RS1762477174	Health Risk	Likely pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS201211181	Health Risk	Likely pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2126962006	Health Risk	Likely pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2127002980	Health Risk	Likely pathogenic	Diets-Jongmans syndrome, See cases, Diets-Jongmans syndrome
RS2480209302	Health Risk	Likely pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2480217162	Health Risk	Likely pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2480231295	Health Risk	Likely pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2480236167	Health Risk	Likely pathogenic	Autism spectrum disorder, Autism spectrum disorder
RS2480311448	Health Risk	Likely pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2480334700	Health Risk	Likely pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1334033128	Health Risk	Pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1761904420	Health Risk	Pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1762078360	Health Risk	Pathogenic	—
RS1762257015	Health Risk	Pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1762639635	Health Risk	Pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1763530961	Health Risk	Pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2126922810	Health Risk	Pathogenic	Neurodevelopmental disorder, Neurodevelopmental disorder
RS2126959971	Health Risk	Pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2126998820	Health Risk	Pathogenic	Rare genetic intellectual disability, Rare genetic epilepsy, Rare genetic intellectual disability
RS2127002964	Health Risk	Pathogenic	—
RS2480322874	Health Risk	Pathogenic	—
RS2480323492	Health Risk	Pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS377463473	Health Risk	Pathogenic	Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS746920623	Health Risk	Pathogenic	—
RS1554131871	Health Risk	Pathogenic/Likely pathogenic	—
RS1561796122	Health Risk	Pathogenic/Likely pathogenic	Neurodevelopmental delay, KDM3B-related disorder, Neurodevelopmental delay