Gene: CEP112

Alternate names for this Gene: CCDC46|MACOCO|SPGF44

Gene Summary: This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.1

Description of this Gene: centrosomal protein 112

Type of Gene: protein-coding

rs9910950 in CEP112 gene and Antiphospholipid antibodies measurement PMID 27098658 2016 Antiphospholipid antibodies in a large population-based cohort: genome-wide associations and effects on monocyte gene expression.

rs8074751 in CEP112 gene and Attention deficit hyperactivity disorder PMID 20732626 2010 Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.

rs7213215 in CEP112 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs117525469 in CEP112 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs746627 in CEP112 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.

rs16958921 in CEP112 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs181929163 in CEP112 gene and Protein measurement PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.