CDK4 Chromosome 12
Cyclin dependent kinase 4
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What This Gene Does
The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Cyclin dependent kinases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q14.1
Ensembl
ENSG00000135446
Associated Conditions (14)
Hereditary cancer-predisposing syndrome
Familial melanoma
Melanoma
cutaneous malignant
susceptibility to
3
Ovarian cancer
CDK4-related disorder
Diffuse pediatric-type high-grade glioma
H3-wildtype and IDH-wildtype
Lung cancer
Malignant tumor of esophagus
Ewing sarcoma
Gastric cancer
Key Variants
RS1031329993
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma
Health Risk
RS1157646541
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial melanoma, Ovarian cancer
Health Risk
RS1158206003
Conflicting classifications of pathogenicity
Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma
Health Risk
RS1192976748
Conflicting classifications of pathogenicity
Familial melanoma, Melanoma, cutaneous malignant
Health Risk
RS1217545832
Conflicting classifications of pathogenicity
Familial melanoma, Melanoma, cutaneous malignant
Health Risk
RS1286893141
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma
Health Risk
RS1294424179
Conflicting classifications of pathogenicity
Familial melanoma, Melanoma, cutaneous malignant
Health Risk
RS1311074831
Conflicting classifications of pathogenicity
Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma
Health Risk
RS1367425262
Conflicting classifications of pathogenicity
Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma
Health Risk
RS1369349270
Conflicting classifications of pathogenicity
Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma
Health Risk
RS1378433780
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1397979744
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma
Health Risk
All Variants (70)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1031329993 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma |
| RS1157646541 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Ovarian cancer |
| RS1158206003 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS1192976748 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Melanoma, cutaneous malignant |
| RS1217545832 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Melanoma, cutaneous malignant |
| RS1286893141 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma |
| RS1294424179 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Melanoma, cutaneous malignant |
| RS1311074831 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma |
| RS1367425262 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS1369349270 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma |
| RS1378433780 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1397979744 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma |
| RS140644696 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Melanoma, cutaneous malignant |
| RS1428628208 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Melanoma, cutaneous malignant |
| RS143670820 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma |
| RS144657355 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Melanoma, cutaneous malignant |
| RS1446831422 | Health Risk | Conflicting classifications of pathogenicity | Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype, Familial melanoma |
| RS144890720 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma |
| RS1463751654 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma |
| RS1478574297 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma |
| RS150281463 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, CDK4-related disorder |
| RS1555201136 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Familial melanoma |
| RS1555201260 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Melanoma, cutaneous malignant |
| RS1595108790 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS1595110484 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma |
| RS1595110689 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS1595110740 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS1955200108 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS1955200396 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma |
| RS1955206224 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS1955231243 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS1955238089 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS200215596 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma |
| RS201617914 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma |
| RS2063052002 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS2140381286 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma |
| RS2140381317 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS2140382889 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS2140384005 | Health Risk | Conflicting classifications of pathogenicity | Melanoma, cutaneous malignant, susceptibility to |
| RS2140388619 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Melanoma, cutaneous malignant |
| RS2227954 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS34386532 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS373619077 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS587778185 | Health Risk | Conflicting classifications of pathogenicity | Melanoma, cutaneous malignant, susceptibility to |
| RS587778187 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma |
| RS587778188 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma |
| RS730881671 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |
| RS746395249 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma |
| RS747084709 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS750061873 | Health Risk | Conflicting classifications of pathogenicity | Familial melanoma, Hereditary cancer-predisposing syndrome, Familial melanoma |