C2orf74 information

Chromosomal location of C2orf74. Image made using NCBI Genome Decorator Page^[1]

C2orf74, also known as LOC339804, is a protein encoding gene located on the short arm of chromosome 2 near position 15 (2p15).^[2] Isoform 1 of the gene is 19,713 base pairs long.^[2] C2orf74 has orthologs in 135 different species,^[2] including primarily placental mammals and some marsupials.

The protein encoded by the C2orf74 gene has two isoforms, the longest of which (isoform 1) is 187 amino acids in length.^[3] This protein is linked to the development of autoimmune disorders such as ankylosing spondylitis^[4] and diseases affecting the colon^[5]^[6]^[7]

^ "Genome Decoration Page". www.ncbi.nlm.nih.gov. Retrieved 2020-12-19.
^ ^a ^b ^c "C2orf74 chromosome 2 open reading frame 74 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-09-30.
^ "uncharacterized protein C2orf74 isoform 1 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-09-30.
^ Wang, Mengmeng; Xin, Lihong; Cai, Guoqi; Zhang, Xu; Yang, Xiao; Li, Xiaona; Xia, Qing; Wang, Li; Xu, Shengqian; Xu, Jianhua; Shuai, Zongwen (2017-05-11). "Pathogenic variants screening in seventeen candidate genes on 2p15 for association with ankylosing spondylitis in a Han Chinese population". PLOS ONE. 12 (5): e0177080. Bibcode:2017PLoSO..1277080W. doi:10.1371/journal.pone.0177080. ISSN 1932-6203. PMC 5426703. PMID 28493913.
^ Gabrielsen, Ingvild S. M.; Amundsen, Silja Svanstrøm; Helgeland, Hanna; Flåm, Siri Tennebø; Hatinoor, Nimo; Holm, Kristian; Viken, Marte K.; Lie, Benedicte A. (2016-07-15). "Genetic risk variants for autoimmune diseases that influence gene expression in thymus". Human Molecular Genetics. 25 (14): 3117–3124. doi:10.1093/hmg/ddw152. ISSN 0964-6906. PMID 27199374.
^ Franke, Andre; McGovern, Dermot P. B.; Barrett, Jeffrey C.; Wang, Kai; Radford-Smith, Graham L.; Ahmad, Tariq; Lees, Charlie W.; Balschun, Tobias; Lee, James; Roberts, Rebecca; Anderson, Carl A. (December 2010). "Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci". Nature Genetics. 42 (12): 1118–1125. doi:10.1038/ng.717. ISSN 1546-1718. PMC 3299551. PMID 21102463.
^ Kenny, Eimear E.; Pe'er, Itsik; Karban, Amir; Ozelius, Laurie; Mitchell, Adele A.; Ng, Sok Meng; Erazo, Monica; Ostrer, Harry; Abraham, Clara; Abreu, Maria T.; Atzmon, Gil (2012). "A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci". PLOS Genetics. 8 (3): e1002559. doi:10.1371/journal.pgen.1002559. ISSN 1553-7404. PMC 3297573. PMID 22412388.

[1] "Genome Decoration Page". www.ncbi.nlm.nih.gov. Retrieved 2020-12-19.

[:0-2] "C2orf74 chromosome 2 open reading frame 74 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-09-30.

[:1-3] "uncharacterized protein C2orf74 isoform 1 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-09-30.

[:2-4] Wang, Mengmeng; Xin, Lihong; Cai, Guoqi; Zhang, Xu; Yang, Xiao; Li, Xiaona; Xia, Qing; Wang, Li; Xu, Shengqian; Xu, Jianhua; Shuai, Zongwen (2017-05-11). "Pathogenic variants screening in seventeen candidate genes on 2p15 for association with ankylosing spondylitis in a Han Chinese population". PLOS ONE. 12 (5): e0177080. Bibcode:2017PLoSO..1277080W. doi:10.1371/journal.pone.0177080. ISSN 1932-6203. PMC 5426703. PMID 28493913.

[:5-5] Gabrielsen, Ingvild S. M.; Amundsen, Silja Svanstrøm; Helgeland, Hanna; Flåm, Siri Tennebø; Hatinoor, Nimo; Holm, Kristian; Viken, Marte K.; Lie, Benedicte A. (2016-07-15). "Genetic risk variants for autoimmune diseases that influence gene expression in thymus". Human Molecular Genetics. 25 (14): 3117–3124. doi:10.1093/hmg/ddw152. ISSN 0964-6906. PMID 27199374.

[:6-6] Franke, Andre; McGovern, Dermot P. B.; Barrett, Jeffrey C.; Wang, Kai; Radford-Smith, Graham L.; Ahmad, Tariq; Lees, Charlie W.; Balschun, Tobias; Lee, James; Roberts, Rebecca; Anderson, Carl A. (December 2010). "Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci". Nature Genetics. 42 (12): 1118–1125. doi:10.1038/ng.717. ISSN 1546-1718. PMC 3299551. PMID 21102463.

[:7-7] Kenny, Eimear E.; Pe'er, Itsik; Karban, Amir; Ozelius, Laurie; Mitchell, Adele A.; Ng, Sok Meng; Erazo, Monica; Ostrer, Harry; Abraham, Clara; Abreu, Maria T.; Atzmon, Gil (2012). "A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci". PLOS Genetics. 8 (3): e1002559. doi:10.1371/journal.pgen.1002559. ISSN 1553-7404. PMC 3297573. PMID 22412388.

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