Biology:CCDC116
CCDC116, also called coiled-coil domain containing 116, is a gene that is patented for experimentation on the possibility of being a cancer marker for prostate cancer.
Gene
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]
mRNA
CCDC116 has two isoforms.[3] The isoforms differ in the 3’ UTR and coding sequence.[3]
Protein
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]
Expression
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]
Regulation of Expression
CCDC116 has four promoter regions and eight primary transcripts.[5] Two promoter regions located on the + strand, and two located on the - strand.[5]
Function Protein Partners
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]
Clinical Significance
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]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 "CCDC116 Gene". https://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC116.
- ↑ CCDC116 isoform1. 10 November 2018. https://www.ncbi.nlm.nih.gov/nuccore/NM_152612.2.
- ↑ 3.0 3.1 3.2 "CCDC116". https://www.ncbi.nlm.nih.gov/gene/164592.
- ↑ 4.0 4.1 4.2 "Biology Workbench". http://workbench.sdsc.edu/.
- ↑ 5.0 5.1 "ElDorado". https://www.genomatix.de/online_help/help_eldorado/comparative_genomics_help.html.
- ↑ Recurrent gene fusions in prostate cancer, 2010-09-15, https://patents.google.com/patent/US20110065113A1/en, retrieved 2018-05-11
- ↑ "Expression of the coiled coil domain containing protein 116 in the pancreatic islets and endocrine pancreatic tumors". Islets 4 (5): 349–53. September 2012. doi:10.4161/isl.22416. PMID 23072936.
 |  |
