CCDC116
| CCDC116 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | CCDC116, coiled-coil domain containing 116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1924122; GeneCards: CCDC116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Coiled-coil domain-containing protein 116 is a protein that in humans is encoded by the gene CCDC116.
Gene
[edit]CCDC116 has no aliases.[5] This gene is 2252 base pairs long.[6] CCDC116 has 5 exons and is located on chromosome 22q11.21 on the plus strand.[7]
mRNA
[edit]CCDC116 has two isoforms.[7] The isoforms differ in the 3’ UTR and coding sequence.[7]
Protein
[edit]CCDC116 is 612 amino acids long.[5] CCDC116 is 67.9 kdal.[5] This protein has an isoelectric point of 9.24.[5] This protein is a part of the domain of unknown function 4702.[5]
It is predicted that CCDC116 is located in the nucleus.[8] It is predicted that the membrane typology of this protein is a type 3a rolled up beta sheet.[8] This protein has mostly alpha helices with a few coils.[8]
Expression
[edit]CCDC116 is primarily found in the testis, although this gene is found in very small amounts in the brain and connective tissue.[5] There are two SNPs that are upstream variants, one that is a downstream variant, one that is an intron variant.[5]
Regulation of Expression
[edit]CCDC116 has four promoter regions and eight primary transcripts.[9] Two promoter regions located on the + strand, and two located on the - strand.[9]
Function Protein Partners
[edit]CCDC116 has two predicted function partners. NGFRAP is a nerve growth factor receptor associated protein.[5] This gene is believed to play a role in the pathogenesis of neurogenetic diseases, although that claim has not been proven.[5]
Clinical Significance
[edit]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.[10] A study was done in 2012 on observing how this gene is expressed in human pancreatic islets and in endocrine pancreatic tumors.[11]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000161180 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022768 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 3 4 5 6 7 8 9 "CCDC116 Gene". Gene Cards.
- ↑ "CCDC116 isoform1". NCBI Gene. 10 November 2018.
- 1 2 3 "CCDC116". NCBI Gene.
- 1 2 3 "Biology Workbench". SDSC Biology Workbench.
- 1 2 "ElDorado". Genomatix. Archived from the original on 2017-05-22. Retrieved 2017-05-07.
- ↑ Recurrent gene fusions in prostate cancer, 2010-09-15, retrieved 2018-05-11
- ↑ Tsolakis AV, Grimelius L, Islam MS (September 2012). "Expression of the coiled coil domain containing protein 116 in the pancreatic islets and endocrine pancreatic tumors". Islets. 4 (5): 349–53. doi:10.4161/isl.22416. PMC 3524142. PMID 23072936.