CEP112 (Entrez ID: 201134)

Entrez Gene ID	201134
Official Gene Symbol	CEP112 (GeneCards)
Full name	centrosomal protein 112
Location	17q24.1
Other ids	Vega : OTTHUMG00000179474 HGNC : HGNC:28514 Ensembl : ENSG00000154240
Other names	CCDC46, MACOCO
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. [provided by RefSeq, Nov 2014]

Variants

Found 10 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
19776	201134	CEP112	17	64017466	64017466	Asymptomatic	HiSeq X Ten
19812	201134	CEP112	17	64008560	64008560	Asymptomatic	HiSeq X Ten HiSeq 2000
19813	201134	CEP112	17	64037710	64037710	Asymptomatic	HiSeq X Ten HiSeq 2000
19866	201134	CEP112	17	64000626	64000626	Asymptomatic	HiSeq X Ten HiSeq 2000
19964	201134	CEP112	17	64176703	64176703	Asymptomatic	HiSeq X Ten HiSeq 2000
20002	201134	CEP112	17	64051450	64051450	Asymptomatic	HiSeq X Ten HiSeq 2000
20025	201134	CEP112	17	63638678	63638678	Asymptomatic	HiSeq X Ten HiSeq 2000
20087	201134	CEP112	17	63707169	63707169	Asymptomatic	HiSeq X Ten HiSeq 2000
20109	201134	CEP112	17	63919760	63919760	Cockayne syndrome	HiSeq X Ten HiSeq 2000
20145	201134	CEP112	17	64078969	64078969	Cockayne syndrome	HiSeq X Ten HiSeq 2000