KDM5B Chromosome 1
Lysine demethylase 5B
Upload your DNA to see your personal genotypes for variants in KDM5B.
What This Gene Does
This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain cancer cells. This protein may also play a role in genome stability and DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Gene Info
Gene Group
"PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases"
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000117139
Associated Conditions (13)
Inborn genetic diseases
KDM5B-related disorder
Intellectual disability
autosomal recessive 65
See cases
Familial cancer of breast
Hepatocellular carcinoma
Adrenocortical carcinoma
hereditary
Uterine corpus endometrial carcinoma
Colon adenocarcinoma
Autism spectrum disorder
Neurodevelopmental disorder
Key Variants
RS139343230
Conflicting classifications of pathogenicity
Inborn genetic diseases, KDM5B-related disorder, Inborn genetic diseases
Health Risk
RS141191327
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 65, Intellectual disability
Health Risk
RS143647342
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS200973415
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, Inborn genetic diseases
Health Risk
RS2102262030
Conflicting classifications of pathogenicity
Health Risk
RS371073356
Conflicting classifications of pathogenicity
Health Risk
RS542983923
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 65, Familial cancer of breast
Health Risk
RS558975598
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 65, Adrenocortical carcinoma
Health Risk
RS756616242
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal recessive 65
Health Risk
RS758824583
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS760186894
Conflicting classifications of pathogenicity
Autism spectrum disorder, Intellectual disability, autosomal recessive 65
Health Risk
RS777362026
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 65, Intellectual disability
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2527536329 | Health Risk | Pathogenic | — |
| RS2527542588 | Health Risk | Pathogenic | — |
| RS2527576538 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2527627635 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 65, Intellectual disability |
| RS2527635636 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS375695605 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 65, Intellectual disability |
| RS772640819 | Health Risk | Pathogenic | — |
| RS1558498928 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 65, Intellectual disability |
| RS367833330 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 65, Intellectual disability |
| RS527951173 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 65, Intellectual disability |
| RS746837045 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 65, Intellectual disability |
| RS750775126 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 65, Intellectual disability |
| RS764916645 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS776299767 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |
| RS866525850 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |