Gene: CEP120

Alternate names for this Gene: CCDC100|JBTS31|SRTD13

Gene Summary: This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 5

Location in Chromosome : 5q23.2

Description of this Gene: centrosomal protein 120

Type of Gene: protein-coding

rs7706662 in CEP120 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs17473412 in CEP120 gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs1554102026 in CEP120 gene and JOUBERT SYNDROME 31 PMID 27208211 2016 Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

rs6862676 in CEP120 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs6595443 in CEP120 gene and Multiple Myeloma PMID 30213928 2018 Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.

rs367600930 in CEP120 gene and SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY PMID 25361962 2015 A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

rs1864046 in CEP120 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6595440 in CEP120 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10051787 in CEP120 gene and Waist Circumference PMID 26785701 2016 Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference.