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C5orf36
C5orf36 is a protein that in humans is encoded by the gene C5orf36. It is also known as KIAA0825. The gene is located on chromosome 5, 5q15.[1] The gene is about 478 kb long and produces 8 differents variants: 7 alternatively spliced, and one un-spliced version.[2] The longest mRNA is 7240 bp long and produces a protein 1275 amino acids long.[3] It has orthologs in most animals including zebrafish, but is not found in in bacteria or plants with the exception of Plasmodiophora brassicae.
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Human chromosome 5 regions labeled.
Protein Structure
The protein contains no transmembrane or signal domains. It does contain one domain which is poorly understood, that belongs to the DUF4495 protein family.
References in Scientific Papers
No papers specifically explore the function of C5orf36. There are however two papers that found the gene C5orf36 was disrupted by other genes. Schilts et. al found it was disrupted by the gene DGAP242 in congenital hearing loss, but the paper suggests it is likely not the cause of the hearing loss.[4] Crepel et al found it is disrupted in Autism Spectrum Disorder (ASD) along with CDH11 and GFOD2. [5] There is no indication though that it is the cause of ASD or responsible for any of the symptoms. The article does mention that it has a haploinsufficiency score of 93%.
- ^ Wikigenes https://www.wikigenes.org/e/gene/e/285600.html.
{{cite web}}: Missing or empty|title=(help) - ^ AceView entry for Homo sapiens gene KIAA0825 [1] accessed 2/5/2017
- ^ AceView https://www.ncbi.nlm.nih.gov/ieb/research/acembly/av.cgi?db=human&term=KIAA0825&submit=Go.
{{cite web}}: Missing or empty|title=(help) - ^ Schilit, Samantha; Curral, Benjamin; Yao, Ruen; Hanscom, Carrie; Pillalamarri, Vamsee; Lee, Dong-Young; Kammin, Tammy; Zepeda-Mendoza, Cinthya; Mononen, Tarja; Nolan, Lisa; Gusella, James; Talkowski, Michael; Shen, Jun; Morton, Cynthia (November 2016). "Samantha LP Schilit, Benjamin B Currall, Ruen Yao, Carrie Hanscom, Ryan L Collins, Vamsee Pillalamarri, Dong-Young Lee, Tammy Kammin, Cinthya J Zepeda-Mendoza, Tarja Mononen, Lisa S Nolan, James F Gusella, Michael E Talkowski, Jun Shen and Cynthia C Morton A: go Springer Nature". European Journal of Human Genetics. 24: 1622-1626. doi:10.1038/ejhg.2016.64. Retrieved 5 February 2017.
- ^ Crepel, An; De Wolf, Veerle; Brison, Nathalie; Ceulmans, Berten; Walleghem, Didier; Peutman, Gilian; Lambrechts, Diether; Steyaert, Jean; Noens, Ilse; Devriendt, Koen; Peeters, Hilde (22 April 2014). "Association of CDH11 With Non-Syndromic ASD". American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 165 (5): 391-398.
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