CDK5RAP2 Chromosome 9
CDK5 regulatory subunit associated protein 2
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What This Gene Does
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Associated Conditions (12)
Microcephaly 3
primary
autosomal recessive
Inborn genetic diseases
CDK5RAP2-related disorder
Intellectual disability
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Clear cell carcinoma of kidney
Uterine carcinosarcoma
Cervical cancer
Microcephaly
Key Variants
RS112982005
Conflicting classifications of pathogenicity
Microcephaly 3, primary, autosomal recessive
Health Risk
RS1204244672
Conflicting classifications of pathogenicity
Health Risk
RS137966123
Conflicting classifications of pathogenicity
Microcephaly 3, primary, autosomal recessive
Health Risk
RS138157153
Conflicting classifications of pathogenicity
Microcephaly 3, primary, autosomal recessive
Health Risk
RS139736411
Conflicting classifications of pathogenicity
Microcephaly 3, primary, autosomal recessive
Health Risk
RS139924571
Conflicting classifications of pathogenicity
CDK5RAP2-related disorder, CDK5RAP2-related disorder
Health Risk
RS141004029
Conflicting classifications of pathogenicity
Microcephaly 3, primary, autosomal recessive
Health Risk
RS141387242
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, Inborn genetic diseases
Health Risk
RS141496431
Conflicting classifications of pathogenicity
Microcephaly 3, primary, autosomal recessive
Health Risk
RS141563261
Conflicting classifications of pathogenicity
Microcephaly 3, primary, autosomal recessive
Health Risk
RS141683305
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143341041
Conflicting classifications of pathogenicity
Microcephaly 3, primary, autosomal recessive
Health Risk
All Variants (115)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376990082 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS387906274 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS398122971 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS587783387 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS587783392 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS587783393 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS747831095 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS759709467 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS771565845 | Health Risk | Pathogenic | CDK5RAP2-related disorder, CDK5RAP2-related disorder |
| RS774388179 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS775170271 | Health Risk | Pathogenic | — |
| RS797045441 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS869025200 | Health Risk | Pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS587783390 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 3, primary, autosomal recessive |
| RS754282058 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 3, primary, autosomal recessive |