FAM189A2

Last update 08 May 2025

Basic Info

Synonyms

C9orf61, ENTREP, FAM189A2

+ [4]

Introduction

Functions as an activator of the E3 ubiquitin protein ligase ITCH in the ubiquitination of the CXCL12-activated CXCR4 receptor. Thereby, triggers CXCR4 endocytosis and desensitization, negatively regulating the CXCL12/CXCR4 signaling pathway.

100 Clinical Results associated with FAM189A2

100 Translational Medicine associated with FAM189A2

0 Patents (Medical) associated with FAM189A2

Literatures (Medical) associated with FAM189A2

01 Mar 2025·Nature Genetics

Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Article

Author: Smith, Albert Vernon ; Perry, James ; Grine, Daniel ; Chen, Yii-Der Ida ; Harris, Daniel ; Dinh, Huyen ; Zhang, Yingze ; Brody, Jennifer A. ; Palmer, Nicholette ; Watt, Jennifer ; de Andrade, Mariza ; O’Keeffe, Sean ; Rasool, Ayesha ; Ben Heavner ; McHugh, Caitlin ; Kwee, Lydia Coulter ; Sabatine, Marc S. ; Crapo, James ; Schnabel, Renate B. ; Pleiness, Jacob ; Gass, Margery ; Shoemaker, M. Benjamin ; Silver, Brian ; Smith, Tanja ; de Vries, Paul ; Mantineo, Helene ; Khalid, Shareef ; Carty, Cara ; Marcus, Gregory M. ; Ayas, Najib ; Rienstra, Michiel ; Anugu, Pramod ; van der Harst, Pim ; Martin, Lisa ; Peyser, Patricia ; Chung, Mina K. ; Loos, Ruth J. F. ; Bowden, Donald W. ; Montgomery, Courtney ; von Falkenhausen, Aenne S. ; Ryan, Kathleen ; Stefansson, Kari ; Qiao, Dandi ; Nielsen, Jonas ; Cornell, Elaine ; Marton, Melissa ; Roden, Dan M. ; Jaquish, Cashell ; Natarajan, Pradeep ; Beck, Gerald ; Sylvia, Jody ; Muzny, Donna ; Beechert, Christina ; Hawes, Alicia ; Balasubramanian, Suganthi ; Deubler, Andrew ; Deka, Ranjan ; Jurgens, Sean J. ; Wong, Quenna ; Lattari, Michael ; Ellinor, Patrick T. ; Tracy, Russell ; Reed, Robert ; Weng, Lu-Chen ; Abe, Namiko ; Sherman, Stephanie L. ; Barwick, Lucas ; Sinner, Moritz F. ; Levine, David ; Smith, Nicholas L. ; Barnes, Kathleen ; Sotoodehnia, Nona ; Conomos, Matthew ; DeMeo, Dawn ; Padilla, Maria Sotiropoulos ; Saleheen, Danish ; Hernandez, Ryan ; Yang, Ivana ; Nilsson, Peter M. ; Telen, Marilyn ; Davogustto, Giovanni E. ; Lubitz, Steven A. ; McDonald, Merry-Lynn ; Germer, Soren ; Liu, Simin ; Bezzina, Connie R. ; Mitchell, Braxton D. ; Gula, Lorne J. ; Tang, Hua ; Economides, Aris ; Reiner, Alex ; Assimes, Tim ; Ruuska, Sarah ; Rice, Ken ; Ratan, Aakrosh ; Calkins, Hugh ; Wells, Quinn S. ; Kelly, Shannon ; Jain, Deepti ; McGarvey, Stephen ; Hall, Michael ; Haase, Doreen ; Hsiung, Chao Agnes ; Siminovitch, Katherine ; Meyers, Deborah A. ; Pack, Allan ; Weiss, Scott T. ; Comhair, Suzy ; Walts, Avram ; Cupples, L. Adrienne ; Roselli, Carolina ; Ardlie, Kristin ; Wessel, Jennifer ; Okwuonu, Geoffrey ; Schwartz, David ; Pankow, James ; Broeckel, Ulrich ; Habegger, Lukas ; DeBaun, Michael ; Hoth, Karin ; De, Tanima ; Smith, Josh ; Taylor, Matthew ; Taylor, Simeon ; de las Fuentes, Lisa ; Storm, Garrett ; Cade, Brian ; Sheu, Wayne Hui-Heng ; Chen, Bo-Juen ; Kooperberg, Charles ; Johnson, Craig ; Lin, Henry ; Balasubramanian, Adithya ; Haggerty, Christopher M. ; Weir, Bruce ; Avramopoulos, Dimitrios ; Rich, Stephen ; Albert, Christine M. ; Lange, Ethan ; Mansfield, Adam J. ; Runnels, Alexi ; Damcott, Coleen ; Goring, Harald ; Yanek, Lisa ; Lange, Leslie ; Panea, Razvan ; Papanicolaou, George ; Farek, Jesse ; Xu, Huichun ; Mignot, Emmanuel ; Mestroni, Luisa ; Silverman, Edwin ; Wilson, Carla ; Gupta, Namrata ; Anderson, Peter ; Mighty, Jason ; Crandall, Carolyn ; Nadkarni, Girish ; Kinney, Greg ; Rao, D. C. ; Taub, Margaret ; Huston, Haley ; Streeten, Elizabeth ; Emery, Leslie ; Rader, Daniel J. ; Barron-Casella, Emily ; Lotta, Luca A. ; Parker, Cora ; Nafissi, Navid A. ; Mathias, Rasika ; Mychaleckyj, Josyf C. ; Hawley, Nicola L. ; Gray, Kathryn J. ; Holm, Hilma ; Christophersen, Ingrid E. ; Pradhan, Manasi ; Gibbs, Richard ; Reid, Jeffrey G. ; Glahn, David ; Magalang, Ulysses ; Beaty, Terri ; Forsythe, Caitlin ; Becker, Diane ; Wolf, Sarah E. ; Hill, Matthew C. ; VandeHaar, Peter ; Arking, Dan E. ; Hu, Jianhong ; Metcalf, Ginger ; Snively, Beverly ; Gladwin, Mark ; Gudbjartsson, Daniel Fannar ; Cardwell, Jonathan ; Sveinbjörnsson, Garðar ; Hwu, Chii Min ; Fuller, Erin D. ; Ruff, Christian T. ; Ebana, Yusuke ; Taliun, Daniel ; Johnson, Linda S. B. ; Geelhoed, Bastiaan ; Ashley-Koch, Allison ; Bunting, Karen ; Zhao, Wei ; Shetty, Aniket ; Vaidya, Dhananjay ; Gu, C. Charles ; Walker, Tarik ; Winterkorn, Lara ; Kaab, Stefan ; Bezerra, Marcos ; O’Connor, Tim ; Fatkin, Diane ; Khan, Ziad ; Burchard, Esteban ; Aguet, Francois ; Brown, Deborah ; McArdle, Patrick ; Ament, Seth ; Blangero, John ; Karalis, Katia ; Meigs, James ; Minear, Mollie ; Szpiro, Adam ; Aslibekyan, Stella ; Tiwari, Hemant ; Zhu, Xiaofeng ; Coppola, Giovanni ; Williams, Kayleen ; Peralta, Juan Manuel ; Arnett, Donna K. ; Tinker, Lesley ; Smit, Roelof A. J. ; Moll, Matt ; LeBoff, Meryl ; Van Wagoner, David R. ; Lange, Christoph ; Kenny, Eimear ; Casaburi, Richard ; Nauffal, Victor ; McGoldrick, Daniel ; Sung, Yun Ju ; Wang, Xin ; Hokanson, John E. ; Anderson, Jeffrey L. ; Baras, Aris ; Zhao, Snow Xueyan ; Shetty, Amol ; Benos, Takis ; Arnar, David O. ; Barnard, John ; Mikulla, Julie ; Polanco, Tommy ; Mitnaul, Lyndon J. ; Gelb, Bruce ; Nkechinyere, Osuji ; Van Den Berg, David ; Kimoff, John ; Morrill, Valerie N. ; Post, Wendy ; Peloso, Gina ; Kardia, Sharon ; Liu, Yu ; Fullerton, Stephanie M. ; Beitelshees, Amber ; Hixson, James ; Schwander, Karen ; Laksman, Zachary W. M. ; Maxwell, Evan K. ; Tanaka, Toshihiro ; Su, Jessica Lasky ; Robine, Nicolas ; Lanche, Rouel ; Curtis, Jeffrey ; Thornton, Timothy A. ; Seidman, Jonathan ; Judy, Renae L. ; Johnsen, Jill ; Dugan-Perez, Shannon ; Johnston, Rich ; Manning, Alisa ; Blackwell, Thomas W. ; Salerno, William ; Farber, Charles ; Nekhai, Sergei ; Heckbert, Susan R. ; Boorgula, Meher Preethi ; Irvin, Marguerite Ryan ; Chasman, Daniel I. ; Kim, Wonji ; Rasmussen-Torvik, Laura ; Becker, Julia Powers ; Risch, Lorenz ; Staples, Jeffrey C. ; Almasy, Laura ; Becker, Lewis ; Lin, Xihong ; Salzberg, Steven ; Castaldi, Peter ; Redline, Susan ; Han, Yi ; Chaffin, Mark D. ; Buth, Erin ; Johnson, Andrew ; Preuss, Michael ; Smoller, Sylvia ; Wallace, Robert ; Neltner, Bonnie ; Pirruccello, James P. ; Sofer, Tamar ; Applebaum-Bowden, Deborah ; Ramachandran, Vasan S. ; Hong, Elliott ; Gross, Colin ; Franceschini, Nora ; Marston, Nicholas A. ; Kang, Hyun Min ; Xiao, Ling ; Ulloa, Ricardo H. ; Carey, Vincent ; Stilp, Adrienne M. ; Wilson, James ; Young, Kendra ; Rajendran, Mahitha ; Laurie, Cathy ; Furukawa, Tetsushi ; Tong, Catherine ; Natale, Andrea ; Bielak, Larry ; Min, Yuan-I ; David, Sean ; Luo, James ; Sandow, Kevin ; Sankaran, Vijay G. ; Smith, Jennifer ; Chang, Christy ; Ferreira, Manuel A. R. ; Guan, Yue ; Robillard, Rebecca ; Skomro, Robert ; Overton, John D. ; Qasba, Pankaj ; Nessner, Caitlin ; Yu, Ketian ; Abecasis, Goncalo ; Cho, Michael H. ; Hobbs, Brian ; Ekunwe, Lynette ; Sciurba, Frank ; Wu, Joseph ; Cutler, Michael J. ; Johnson, Renee ; Widom, Louis ; Haas, David M. ; Lewis, Joshua ; Daya, Michelle ; Haessler, Jeff ; Clish, Clary ; Snyder, Michael ; S. Olesen, Morten ; Chuang, Lee-Ming ; El Boueiz, Adel ; Tveit, Arnljot ; Carrier, Julie ; Perez, Marco ; Naik, Rakhi ; Sériès, Frédéric ; Herrington, David ; Verweij, Niek ; Hidalgo, Bertha ; Smith, Jonathan D. ; Jones, Marcus B. ; Gogarten, Stephanie ; Lin, Honghuang ; Lopez, Alexander ; Geraci, Mark ; Mohanty, Sanghamitra ; Zody, Michael ; Hersh, Craig ; Lee, Wen-Jane ; Soliman, Elsayed Z. ; Wang, Jiongming ; Bustamante, Carlos ; Darbar, Dawood ; Doddapaneni, Harsha ; Eom, Gisu ; Raffield, Laura M. ; Dan Levy ; Bis, Joshua C. ; Smith, J. Gustav ; Halford, Jennifer L. ; Pollin, Toni ; Ruczinski, Ingo ; Yoneda, Zachary T. ; Nelson, Sarah C. ; He, Jiang ; Jun, Goo ; Konkle, Barbara ; Threlkeld, Machiko ; Tirschwell, David ; Nickerson, Deborah ; McFarland, Sean ; Hung, Yi-Jen ; Montasser, May E. ; Correa, Adolfo ; Kaplan, Robert ; Davis, Colleen ; Gu, Zhenhua ; Sabino, Ester Cerdeira ; Zoellner, Sebastian ; Hanly, Patrick ; Rafaels, Nicholas ; Manoochehri, Kia ; Ochs-Balcom, Heather ; Custer, Brian ; Khan, Alyna ; Shah, Svati H. ; Russell, Pamela ; Zekavat, Seyedeh Maryam ; Psaty, Bruce M. ; Sefuiva Reupena, Muagututi’a ; Manson, JoAnn ; Casas Romero, Juan P. ; Reeves, Catherine ; Shuldiner, Alan ; Make, Barry ; Kühne, Michael ; Jones, Kimberly ; Kirchhof, Paulus ; Graw, Sharon ; Erzurum, Serpil ; Regan, Elizabeth ; Wang, Fei Fei ; Tsai, Michael ; Bai, Xiaodong ; Laurie, Cecelia ; Barr, R. Graham ; Li, Yun ; Gao, Shanshan ; Salimi, Shabnam ; Vrieze, Scott ; Momin, Zeineen ; Manichaikul, Ani ; Broome, Jai ; Bowler, Russell ; Orelus, Max ; Devine, Scott ; Sheehan, Vivien ; Benjamin, Emelia J. ; Kessler, Michael ; Watson, Karol ; Seidman, Christine ; Gerszten, Robert ; Li, Dadong ; Roberts, Jason D. ; Boerwinkle, Eric ; Chavan, Sameer ; Guo, Xiuqing ; Li, Xiaohui ; Weeks, Daniel E. ; Lee, Sandra ; Auer, Paul ; Mei, Hao ; Jackson, Rebecca ; McNeil, Becky ; Gan, Weiniu ; Phillips, Lawrence S. ; Knight, Stacey ; Ghosh, Auyon ; Fornage, Myriam ; Duan, Qing ; Geiger, Heather ; Gong, Da-Wei ; Frazar, Chris ; Willer, Cristen ; Damrauer, Scott M. ; North, Kari ; Minster, Ryan L. ; Eaton, Charles ; Salvi, Sejal ; Paik, David T. ; Abecasis, Gonçalo ; Cantor, Michael ; Dutcher, Susan K. ; Mahaney, Michael ; Kramer, Holly ; Gao, Yan ; Boutkov, Boris ; Fingerlin, Tasha ; Flickinger, Matthew ; Gignoux, Chris ; Duggirala, Ravi ; Alonso, Alvaro ; Chung, Ren-Hua ; Nafde, Mona ; Nazarian, Saman ; Tishkoff, Sarah ; Krasheninina, Olga ; Peters, Ulrike ; Mathai, Susan ; Choi, Seung Hoan ; Lee, Jiwon ; Conen, David ; McManus, David D. ; Curran, Joanne ; Gabriel, Stacey ; Fu, Mao ; Casella, James ; O’Connell, Jeff ; Weinstock, Joshua ; Menon, Vipin ; LeFaive, Jonathon ; Beer, Rebecca ; Taylor, Kent D. ; Rotter, Jerome ; Santibanez, Jireh ; Naseri, Take ; Lunetta, Kathryn L. ; Min, Nancy ; Liu, Yongmei ; Durda, Jon Peter ; May, Susanne ; Chang, Yi-Cheng ; Williams, L. Keoki ; Fulton, Lucinda ; Schleicher, Thomas D. ; Wang, Heming ; Chen, Wei-Min ; Qin, Zhaohui

Atrial fibrillation (AF) is a prevalent and morbid abnormality of the heart rhythm with a strong genetic component. Here, we meta-analyzed genome and exome sequencing data from 36 studies that included 52,416 AF cases and 277,762 controls. In burden tests of rare coding variation, we identified novel associations between AF and the genes MYBPC3, LMNA, PKP2, FAM189A2 and KDM5B. We further identified associations between AF and rare structural variants owing to deletions in CTNNA3 and duplications of GATA4. We broadly replicated our findings in independent samples from MyCode, deCODE and UK Biobank. Finally, we found that CRISPR knockout of KDM5B in stem-cell-derived atrial cardiomyocytes led to a shortening of the action potential duration and widespread transcriptomic dysregulation of genes relevant to atrial homeostasis and conduction. Our results highlight the contribution of rare coding and structural variants to AF, including genetic links between AF and cardiomyopathies, and expand our understanding of the rare variant architecture for this common arrhythmia.

01 Aug 2024·Tissue and Cell

FAM189A2 plays a tumour suppressor role in lung adenocarcinoma by influencing cell apoptosis, CXCR4 expression and tight junction proteins

Article

Author: Tian, Ziqiang ; Luan, Yanchao ; Zhao, Wei ; Liu, Jiakun

Transmembrane proteins play key roles in the development of lung cancer. The family with sequence similarity 189 member A2 (FAM189A2) gene encodes a transmembrane structural protein, yet its involvement in lung adenocarcinoma remains largely unexplored. This study elucidated its role in lung adenocarcinoma and its possible molecular mechanism. Our findings revealed diminished expression levels of FAM189A2 in LUAD tissues. Additionally, the activity of LUAD cells was significantly inhibited by overexpression of FAM189A2. Following FAM189A2 overexpression, the expression of OCLN and TJP2 was upregulated in LUAD cells, while CXCR4 expression experiences a notable decrease. Moreover, the coimmunoprecipitation experiment confirmed the direct interaction between FAM189A2 and CXCR4. The infiltration levels of T cells (CD4+ memory resting, CD8+, regulatory), NK cells, B memory cells, endothelial cells and cancer-associated fibroblasts were significantly correlated with FAM189A2 expression. These results indicate FAM189A2 may act as a tumour suppressor in LUAD through tight junction protein (TJP) and CXCR4 regulation. Moreover, FAM189A2 is significantly correlated with the immune microenvironment of LUAD, which may be involved in prognosis and immunotherapeutic efficacy.

01 Jan 2024·Annals of Dermatology

Genome-wide Association Study of Susceptibility Loci for Self-Reported Atopic Dermatitis and Allergic Rhinitis in the Korean Population

Article

Author: Kim, Bo Ri ; Paik, Kyungho ; Choi, Chong Won ; Na, Jung-Im ; Kim, Jee Woo ; Kim, Min Jae

BACKGROUNDAllergic diseases include atopic dermatitis (AD) and allergic rhinitis (AR), which are chronic, relapsing inflammatory disorders of the skin or mucosa that usually accompany immunoglobulin E-mediated immune responses. They are complex, multifactorial diseases with an etiology involving interactions between genetic and environmental factors.OBJECTIVEWe performed a genome-wide association study (GWAS) to identify single nucleotide polymorphisms (SNPs) associated with allergic diseases in the Korean population.METHODSA total of 8,840 samples were obtained from the Korean Association Resource Consortium dataset of the Korean Genome and Epidemiology Study Ansan-Anseong cohort. The allergic disease phenotype was determined based on self-reported physician diagnoses. After quality control, 8,823 subjects with 877,242 variants remained for the final analysis. The GWAS was performed using logistic regression analysis in an additive model adjusted for age and sex.RESULTSA total of 636 patients with allergic disease and 8,176 controls were analyzed. Three SNPs were associated with allergic disease at a level of genome-wide suggestive significance (p<1.0×10^-5) in the Korean population: rs7275360, located in neural cell adhesion molecule 2; rs698195; and rs3750552, located in family with sequence similarity 189, member A2. These polymorphisms were on chromosomes 21q21.1, 7q31.1, and 9q21.12, respectively.CONCLUSIONWe identified 3 novel SNPs significantly associated with allergic diseases in the Korean population. Further research is required to confirm the association between these novel SNPs and allergic disease in the Korean population and in other ethnicities.

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FAM189A2

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