KDM2B Chromosome 12
Lysine demethylase 2B
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What This Gene Does
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PHD finger proteins|Zinc fingers CXXC-type|Lysine demethylases|F-box and leucine rich repeat proteins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000089094
Associated Conditions (4)
NEURODEVELOPMENTAL DISORDER WITH CONGENITAL CARDIAC DEFECTS AND VARIABLE RENAL AND OCULAR ABNORMALITIES
Inborn genetic diseases
KDM2B-related disorder
KDM2B-related syndrome
Key Variants
RS1555292026
Conflicting classifications of pathogenicity
NEURODEVELOPMENTAL DISORDER WITH CONGENITAL CARDIAC DEFECTS AND VARIABLE RENAL AND OCULAR ABNORMALITIES, NEURODEVELOPMENTAL DISORDER WITH CONGENITAL CARDIAC DEFECTS AND VARIABLE RENAL AND OCULAR ABNORMALITIES
Health Risk
RS200000039
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781886803
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2500838817
Likely pathogenic
KDM2B-related disorder, KDM2B-related disorder
Health Risk
RS2502086109
Likely pathogenic
KDM2B-related disorder, KDM2B-related disorder
Health Risk
RS1772764456
Pathogenic
Health Risk
RS2547646107
Pathogenic
Health Risk
RS2547647062
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555292064
Pathogenic/Likely pathogenic
KDM2B-related syndrome, KDM2B-related syndrome
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555292026 | Health Risk | Conflicting classifications of pathogenicity | NEURODEVELOPMENTAL DISORDER WITH CONGENITAL CARDIAC DEFECTS AND VARIABLE RENAL AND OCULAR ABNORMALITIES, NEURODEVELOPMENTAL DISORDER WITH CONGENITAL CARDIAC DEFECTS AND VARIABLE RENAL AND OCULAR ABNORMALITIES |
| RS200000039 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781886803 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2500838817 | Health Risk | Likely pathogenic | KDM2B-related disorder, KDM2B-related disorder |
| RS2502086109 | Health Risk | Likely pathogenic | KDM2B-related disorder, KDM2B-related disorder |
| RS1772764456 | Health Risk | Pathogenic | — |
| RS2547646107 | Health Risk | Pathogenic | — |
| RS2547647062 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555292064 | Health Risk | Pathogenic/Likely pathogenic | KDM2B-related syndrome, KDM2B-related syndrome |