POU2AF2

POU2AF2
Identifiers
Aliases	POU2AF2, chromosome 11 open reading frame 53, POU class 2 homeobox associating factor 2, C11orf53
External IDs	MGI: 1917059; GeneCards: POU2AF2
Gene location (Human)
Chr.	Chromosome 11 (human)
End	111,286,401 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	51,240,224 bp
RNA expression pattern
	Top expressed in
	testicle; ; mucosa of transverse colon; ; gonad; ; left testis; ; islet of Langerhans; ; right testis; ; gallbladder; ; olfactory zone of nasal mucosa; ; muscle of thigh; ; body of stomach;
	Top expressed in
	jejunum; ; yolk sac; ; duodenum; ; zygote; ; left lobe of liver; ; secondary oocyte; ; primary oocyte; ; spleen; ; thymus; ; stomach;
	More reference expression data
	n/a
Orthologs
Databases	NCBI: entry; OMA: entry
	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

POU domain class 2-associating factor 2 is a protein that in humans is encoded by the POU2AF2 gene (previously C11orf53). Reduction in POU2AF2 gene expression is associated with increased odds of occurrence of colorectal cancer. Specifically sequence variation (rs3802842) close to the POU2AF2 gene locus that lowers the expression of POU2AF2 has been observed in the colonic mucosal cells immediately adjacent to colon cancer tumors. POU2AF2 downregulation aids in cells' ability to survive in acidic conditions, which are typical of the tumor microenvironment. CRISPR-Cas9 inactivation of POU2AF2 in an acute myeloid leukemia cell line made the cells resistant to the BCL2 inhibitor Venetoclax, further supporting a role in cancer predisposition.

Additional roles have been proposed.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000150750 – Ensembl, May 2017
1 2 3 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 AP, Brandao P, Chapado MJ, Hamid S, Narayanan R (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, et al. (April 2014). "Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1". Human Molecular Genetics. 23 (8): 2198–2209. doi:10.1093/hmg/ddt584. PMC 3959808. PMID 24256810.
↑ Closa A, Cordero D, Sanz-Pamplona R, Solé X, Crous-Bou M, Paré-Brunet L, et al. (September 2014). "Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis". Carcinogenesis. 35 (9): 2039–2046. doi:10.1093/carcin/bgu092. PMC 4146415. PMID 24760461.
↑ Funato Y, Yoshida A, Hirata Y, Hashizume O, Yamazaki D, Miki H (November 2020). "The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis". Developmental Cell. 55 (4): 387–397.e8. 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, et al. (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, et al. (September 2011). "Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein". The Journal of Biological Chemistry. 286 (39): 34088–34100. doi:10.1074/jbc.M111.243907. PMC 3190826. PMID 21832049.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000150750 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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 AP, Brandao P, Chapado MJ, Hamid S, Narayanan R (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, et al. (April 2014). "Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1". Human Molecular Genetics. 23 (8): 2198–2209. 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, et al. (September 2014). "Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis". Carcinogenesis. 35 (9): 2039–2046. doi:10.1093/carcin/bgu092. PMC 4146415. PMID 24760461.

[9] Funato Y, Yoshida A, Hirata Y, Hashizume O, Yamazaki D, Miki H (November 2020). "The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis". Developmental Cell. 55 (4): 387–397.e8. 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, et al. (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, et al. (September 2011). "Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein". The Journal of Biological Chemistry. 286 (39): 34088–34100. doi:10.1074/jbc.M111.243907. PMC 3190826. PMID 21832049.