CCDC116

CCDC116 has no aliases.[1] This gene is 2252 base pairs long.[2] CCDC116 has 5 exons and is located on chromosome 22q11.21 on the plus strand.[3]

CCDC116 has two isoforms.[3] The isoforms differ in the 3’ UTR and coding sequence.[3]

CCDC116 is 612 amino acids long.[1] CCDC116 is 67.9 kdal.[1] This protein has an isoelectric point of 9.24.[1] This protein is a part of the domain of unknown function 4702.[1]

It is predicted that CCDC116 is located in the nucleus.[4] It is predicted that the membrane typology of this protein is a type 3a rolled up beta sheet.[4] This protein has mostly alpha helices with a few coils.[4]

CCDC116 is primarily found in the testis, although this gene is found in very small amounts in the brain and connective tissue.[1] There are two SNPs that are upstream variants, one that is a downstream variant, one that is an intron variant.[1]

CCDC116 has four promoter regions and eight primary transcripts.[5] Two promoter regions located on the + strand, and two located on the - strand.[5]

CCDC116 has two predicted function partners. NGFRAP is a nerve growth factor receptor associated protein.[1] This gene is believed to play a role in the pathogenesis of neurogenetic diseases, although that claim has not been proven.[1]

There has yet to be any disease association with CCDC116, but currently there is a patent for this gene with the potential for it to be related to cancer.[6] A study was done in 2012 on observing how this gene is expressed in human pancreatic islets and in endocrine pancreatic tumors.[7]