Gene: LOC112268009

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: CDK6

Alternate names for this Gene: MCPH12|PLSTIRE

Gene Summary: The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.2

Description of this Gene: cyclin dependent kinase 6

Type of Gene: protein-coding

rs2282978 in LOC112268009;CDK6 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs2282978 in LOC112268009;CDK6 gene and Body Height PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.

PMID 19343178 2009 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

rs2282978 in LOC112268009;CDK6 gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs2282978 in LOC112268009;CDK6 gene and Height PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

PMID 18391951 2008 Many sequence variants affecting diversity of adult human height.

PMID 19343178 2009 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

rs10225965 in LOC112268009;CDK6 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2282978 in LOC112268009;CDK6 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.