C11orf53

POU2AF2
Identifiers
Aliases	POU2AF2, chromosome 11 open reading frame 53, POU class 2 homeobox associating factor 2, C11orf53
External IDs	MGI: 1917059 HomoloGene: 18881 GeneCards: POU2AF2
Gene location (Human)
Chr.	Chromosome 11 (human)[1]
End	111,286,401 bp[1]
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)[2]
End	51,240,224 bp[2]
RNA expression pattern
	Top expressed in
	quadriceps femoris muscle; ; fundus; ; body of stomach; ; muscle of leg; ; stomach;
	More reference expression data
	n/a
Orthologs
	341032
	69809
	ENSG00000150750
	ENSMUSG00000036027
	Q8IXP5
	Q9D8Q6
	NM_198498
	NM_027217; NM_001372554; NM_001372555; NM_001372556; NM_001372557
	NP_940900
	NP_081493; NP_001359483; NP_001359484; NP_001359485; NP_001359486
	Wikidata
View/Edit Human	View/Edit Mouse

Chromosome 11 open reading frame 53 is a protein that in humans is encoded by the C11orf53 gene.[5] Reduction in C11orf53 gene expression is associated with increased odds of occurrence of colorectal cancer.[6] Specifically sequence variation (rs3802842) close to the C11orf53 gene locus that lowers the expression of C11orf53 has been observed in the colonic mucosal cells immediately adjacent to colon cancer tumors.[7][8] C11orf53 downregulation aids in cells' ability to survive in acidic conditions, which are typical of the tumor microenvironment. [9] CRISPR-Cas9 inactivation of C11orf53 in an acute myeloid leukemia cell line made the cells resistant to the BCL2 inhibitor Venetoclax, further supporting a role in cancer predisposition.[10][11]

Additional roles have been proposed.[12][13]

References

GRCh38: Ensembl release 89: ENSG00000150750 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000036027 - 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.
""C11orf53 chromosome 11 open reading frame 53 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
Delgado, Ana Paula; Brandao, Pamela; Chapado, Maria Julia; Hamid, Shelin; Narayanan, Ramaswamy (July 2014). "Open Reading Frames Associated with Cancer in the Dark Matter of the Human Genome". Cancer Genomics & Proteomics. 11 (4): 201–213. PMID 25048349.
Biancolella, M; Fortini, BK; Tring, S; Plummer, SJ; Mendoza-Fandino, GA; Hartiala, J; Hitchler, MJ; Yan, C; Schumacher, FR; Conti, DV; Edlund, CK; Noushmehr, H; Coetzee, SG; Bresalier, RS; Ahnen, DJ; Barry, EL; Berman, BP; Rice, JC; Coetzee, GA; Casey, G (15 April 2014). "Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1". Human Molecular Genetics. 23 (8): 2198–209. doi:10.1093/hmg/ddt584. PMC 3959808. PMID 24256810.
Closa, A; Cordero, D; Sanz-Pamplona, R; Solé, X; Crous-Bou, M; Paré-Brunet, L; Berenguer, A; Guino, E; Lopez-Doriga, A; Guardiola, J; Biondo, S; Salazar, R; Moreno, V (September 2014). "Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis". Carcinogenesis. 35 (9): 2039–46. doi:10.1093/carcin/bgu092. PMC 4146415. PMID 24760461.
Funato, Y; Yoshida, A; Hirata, Y; Hashizume, O; Yamazaki, D; Miki, H (2020). "The oncogenic PRL protein causes acid addiction of cells by stimulating lysosomal exocytosis". Developmental Cell. 55 (4): 387–397. doi:10.1016/j.devcel.2020.08.009. PMID 32918875. S2CID 221643438.
"C11orf53 CRISPR Screens (Homo sapiens)". orcs.thebiogrid.org.
Nechiporuk, T; Kurtz, SE; Nikolova, O; Liu, T; Jones, CL; D'Alessandro, A; Culp-Hill, R; d'Almeida, A; Joshi, SK; Rosenberg, M; Tognon, CE; Danilov, AV; Druker, BJ; Chang, BH; McWeeney, SK; Tyner, JW (July 2019). "The TP53 Apoptotic Network Is a Primary Mediator of Resistance to BCL2 Inhibition in AML Cells". Cancer Discovery. 9 (7): 910–925. doi:10.1158/2159-8290.CD-19-0125. PMC 6606338. PMID 31048320.
"C11orf53 chromosome 11 open reading frame 53 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
Oláh, J; Vincze, O; Virók, D; Simon, D; Bozsó, Z; Tõkési, N; Horváth, I; Hlavanda, E; Kovács, J; Magyar, A; Szũcs, M; Orosz, F; Penke, B; Ovádi, J (30 September 2011). "Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein". The Journal of Biological Chemistry. 286 (39): 34088–100. doi:10.1074/jbc.M111.243907. PMC 3190826. PMID 21832049.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000150750 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036027 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] ""C11orf53 chromosome 11 open reading frame 53 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.

[6] Delgado, Ana Paula; Brandao, Pamela; Chapado, Maria Julia; Hamid, Shelin; Narayanan, Ramaswamy (July 2014). "Open Reading Frames Associated with Cancer in the Dark Matter of the Human Genome". Cancer Genomics & Proteomics. 11 (4): 201–213. PMID 25048349.

[7] Biancolella, M; Fortini, BK; Tring, S; Plummer, SJ; Mendoza-Fandino, GA; Hartiala, J; Hitchler, MJ; Yan, C; Schumacher, FR; Conti, DV; Edlund, CK; Noushmehr, H; Coetzee, SG; Bresalier, RS; Ahnen, DJ; Barry, EL; Berman, BP; Rice, JC; Coetzee, GA; Casey, G (15 April 2014). "Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1". Human Molecular Genetics. 23 (8): 2198–209. doi:10.1093/hmg/ddt584. PMC 3959808. PMID 24256810.

[8] Closa, A; Cordero, D; Sanz-Pamplona, R; Solé, X; Crous-Bou, M; Paré-Brunet, L; Berenguer, A; Guino, E; Lopez-Doriga, A; Guardiola, J; Biondo, S; Salazar, R; Moreno, V (September 2014). "Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis". Carcinogenesis. 35 (9): 2039–46. doi:10.1093/carcin/bgu092. PMC 4146415. PMID 24760461.

[9] Funato, Y; Yoshida, A; Hirata, Y; Hashizume, O; Yamazaki, D; Miki, H (2020). "The oncogenic PRL protein causes acid addiction of cells by stimulating lysosomal exocytosis". Developmental Cell. 55 (4): 387–397. doi:10.1016/j.devcel.2020.08.009. PMID 32918875. S2CID 221643438.

[10] "C11orf53 CRISPR Screens (Homo sapiens)". orcs.thebiogrid.org.

[11] Nechiporuk, T; Kurtz, SE; Nikolova, O; Liu, T; Jones, CL; D'Alessandro, A; Culp-Hill, R; d'Almeida, A; Joshi, SK; Rosenberg, M; Tognon, CE; Danilov, AV; Druker, BJ; Chang, BH; McWeeney, SK; Tyner, JW (July 2019). "The TP53 Apoptotic Network Is a Primary Mediator of Resistance to BCL2 Inhibition in AML Cells". Cancer Discovery. 9 (7): 910–925. doi:10.1158/2159-8290.CD-19-0125. PMC 6606338. PMID 31048320.

[12] "C11orf53 chromosome 11 open reading frame 53 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.

[13] Oláh, J; Vincze, O; Virók, D; Simon, D; Bozsó, Z; Tõkési, N; Horváth, I; Hlavanda, E; Kovács, J; Magyar, A; Szũcs, M; Orosz, F; Penke, B; Ovádi, J (30 September 2011). "Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein". The Journal of Biological Chemistry. 286 (39): 34088–100. doi:10.1074/jbc.M111.243907. PMC 3190826. PMID 21832049.