Gene: CDK2AP1

Alternate names for this Gene: DOC1|DORC1|ST19|doc-1|p12DOC-1

Gene Summary: The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: cyclin dependent kinase 2 associated protein 1

Type of Gene: protein-coding

Gene: C12orf65

Alternate names for this Gene: COXPD7|SPG55

Gene Summary:

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: chromosome 12 open reading frame 65

Type of Gene: protein-coding

rs63406760 in CDK2AP1;C12orf65 gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs63406760 in CDK2AP1;C12orf65 gene and Allergic rhinitis (disorder) PMID 30013184 2018 Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

rs4268544 in CDK2AP1;C12orf65 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.