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    CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 [ Homo sapiens (human) ]

    Gene ID: 1952, updated on 17-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.

    The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.
    Bui DLH, Roach A, Li J, Bandekar SJ, Orput E, Raghavan R, Araç D, Sando RC., Free PMC Article

    10/11/2023
    Inactivating Celsr2 promotes motor axon fasciculation and regeneration in mouse and human.

    Inactivating Celsr2 promotes motor axon fasciculation and regeneration in mouse and human.
    Wen Q, Weng H, Liu T, Yu L, Zhao T, Qin J, Li S, Wu Q, Tissir F, Qu Y, Zhou L., Free PMC Article

    04/23/2022
    CELSR2 deficiency suppresses lipid accumulation in hepatocyte by impairing the UPR and elevating ROS level.

    CELSR2 deficiency suppresses lipid accumulation in hepatocyte by impairing the UPR and elevating ROS level.
    Tan J, Che Y, Liu Y, Hu J, Wang W, Hu L, Zhou Q, Wang H, Li J.

    10/30/2021
    rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography.

    rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography.
    Noto D, Cefalù AB, Martinelli N, Giammanco A, Spina R, Barbagallo CM, Caruso M, Novo S, Sarullo F, Pernice V, Brucato F, Ingrassia V, Fayer F, Altieri GI, Scrimali C, Misiano G, Olivieri O, Girelli D, Averna MR.

    05/29/2021
    Identification of CELSR2 as a novel prognostic biomarker for hepatocellular carcinoma.

    Identification of CELSR2 as a novel prognostic biomarker for hepatocellular carcinoma.
    Xu M, Zhu S, Xu R, Lin N., Free PMC Article

    12/19/2020
    Both CELSR2 and ING4 display increased cytoplasmic staining in breast cancer cells compared to benign epithelium, suggesting a possible role of both genes in the pathogenesis of human mammary neoplasia.

    Differential cellular localization of CELSR2 and ING4 and correlations with hormone receptor status in breast cancer.
    Jiang L, Zhang X, Xiang C, Geradts J, Wei Q, Liang Y, Huang H, Xu JF.

    12/1/2018
    findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish-Danish population

    CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.
    Einarsdottir E, Grauers A, Wang J, Jiao H, Escher SA, Danielsson A, Simony A, Andersen M, Christensen SB, Åkesson K, Kou I, Khanshour AM, Ohlin A, Wise C, Ikegawa S, Kere J, Gerdhem P., Free PMC Article

    12/30/2017
    we report bi-allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency.

    CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
    Vilboux T, Malicdan MC, Roney JC, Cullinane AR, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin JC, NISC Comparative Sequencing Program, Steinbach PJ, Gahl WA, Gunay-Aygun M., Free PMC Article

    10/21/2017
    no association was found between the SNPs of rs599839, rs464218 and rs6698843 at the CELSR2-PSRC1-SORT1 and the risk of coronary artery disease or ischemic stroke

    Association of variants in CELSR2-PSRC1-SORT1 with risk of serum lipid traits, coronary artery disease and ischemic stroke.
    Zhou YJ, Hong SC, Yang Q, Yin RX, Cao XL, Chen WX., Free PMC Article

    10/22/2016
    CELSR2 in the cholesterol gene cluster shows a significant association with coronary artery disease and its single nucleotide polymorphism regulates plasma cholesterol levels.

    CELSR2-PSRC1-SORT1 gene expression and association with coronary artery disease and plasma lipid levels in an Asian Indian cohort.
    Arvind P, Nair J, Jambunathan S, Kakkar VV, Shanker J.

    05/30/2015
    Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)

    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    Waterworth DM, Ricketts SL, Song K, Chen L, Zhao JH, Ripatti S, Aulchenko YS, Zhang W, Yuan X, Lim N, Luan J, Ashford S, Wheeler E, Young EH, Hadley D, Thompson JR, Braund PS, Johnson T, Struchalin M, Surakka I, Luben R, Khaw KT, Rodwell SA, Loos RJ, Boekholdt SM, Inouye M, Deloukas P, Elliott P, Schlessinger D, Sanna S, Scuteri A, Jackson A, Mohlke KL, Tuomilehto J, Roberts R, Stewart A, Kesäniemi YA, Mahley RW, Grundy SM, Wellcome Trust Case Control Consortium, McArdle W, Cardon L, Waeber G, Vollenweider P, Chambers JC, Boehnke M, Abecasis GR, Salomaa V, Järvelin MR, Ruokonen A, Barroso I, Epstein SE, Hakonarson HH, Rader DJ, Reilly MP, Witteman JC, Hall AS, Samani NJ, Strachan DP, Barter P, van Duijn CM, Kooner JS, Peltonen L, Wareham NJ, McPherson R, Mooser V, Sandhu MS., Free PMC Article

    12/5/2010
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)See all PubMed (3) articles

    Additive effect of multiple genetic variants on the risk of coronary artery disease.
    Lluís-Ganella C, Lucas G, Subirana I, Sentí M, Jimenez-Conde J, Marrugat J, Tomás M, Elosua R.

    Joint effects of common genetic variants from multiple genes and pathways on the risk of premature coronary artery disease.
    Anderson JL, Horne BD, Camp NJ, Muhlestein JB, Hopkins PN, Cannon-Albright LA, Mower CP, Park JJ, Clarke JL, Nicholas ZP, McKinney JT, Carlquist JF.

    Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
    Fontaine-Bisson B, Renström F, Rolandsson O, MAGIC, Payne F, Hallmans G, Barroso I, Franks PW.

    09/15/2010
    Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data.
    Ma L, Yang J, Runesha HB, Tanaka T, Ferrucci L, Bandinelli S, Da Y., Free PMC Article

    06/30/2010
    The novel CAD-associated locus in the vicinity of the PSRC1 and CELSR2 genes on chromosome 1 probably enhances CAD risk through an effect on plasma LDL cholesterol.

    The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol.
    Samani NJ, Braund PS, Erdmann J, Götz A, Tomaszewski M, Linsel-Nitschke P, Hajat C, Mangino M, Hengstenberg C, Stark K, Ziegler A, Caulfield M, Burton PR, Schunkert H, Tobin MD.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (8) articles

    A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.
    Ripatti S, Tikkanen E, Orho-Melander M, Havulinna AS, Silander K, Sharma A, Guiducci C, Perola M, Jula A, Sinisalo J, Lokki ML, Nieminen MS, Melander O, Salomaa V, Peltonen L, Kathiresan S.

    Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.
    Hu M, Lui SS, Mak VW, Chu TT, Lee VW, Poon EW, Tsui TK, Ko GT, Baum L, Tam LS, Li EK, Tomlinson B.

    Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart Study.
    Keebler ME, Deo RC, Surti A, Konieczkowski D, Guiducci C, Burtt N, Buxbaum SG, Sarpong DF, Steffes MW, Wilson JG, Taylor HA, Kathiresan S.

    Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.
    Reynolds CA, Hong MG, Eriksson UK, Blennow K, Wiklund F, Johansson B, Malmberg B, Berg S, Alexeyenko A, Grönberg H, Gatz M, Pedersen NL, Prince JA.

    Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.
    Keebler ME, Sanders CL, Surti A, Guiducci C, Burtt NP, Kathiresan S.

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium.

    Large scale replication analysis of loci associated with lipid concentrations in a Japanese population.
    Nakayama K, Bayasgalan T, Yamanaka K, Kumada M, Gotoh T, Utsumi N, Yanagisawa Y, Okayama M, Kajii E, Ishibashi S, Iwamoto S, Jichi Community Genetics Team (JCOG).

    Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.
    Lanktree MB, Anand SS, Yusuf S, Hegele RA, SHARE Investigators.

    04/1/2009
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)See all PubMed (4) articles

    Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
    Suchindran S, Rivedal D, Guyton JR, Milledge T, Gao X, Benjamin A, Rowell J, Ginsburg GS, McCarthy JJ.

    Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
    Myocardial Infarction Genetics Consortium, Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, Spertus JA, Stoll M, Girelli D, McKeown PP, Patterson CC, Siscovick DS, O'Donnell CJ, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Melander O, Altshuler D, Ardissino D, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Casari G, Galli M, Ribichini F, Rossi M, Bernardi F, Zonzin P, Piazza A, Mannucci PM, Schwartz SM, Siscovick DS, Yee J, Friedlander Y, Elosua R, Marrugat J, Lucas G, Subirana I, Sala J, Ramos R, Kathiresan S, Meigs JB, Williams G, Nathan DM, MacRae CA, O'Donnell CJ, Salomaa V, Havulinna AS, Peltonen L, Melander O, Berglund G, Voight BF, Kathiresan S, Hirschhorn JN, Asselta R, Duga S, Spreafico M, Musunuru K, Daly MJ, Purcell S, Voight BF, Purcell S, Nemesh J, Korn JM, McCarroll SA, Schwartz SM, Yee J, Kathiresan S, Lucas G, Subirana I, Elosua R, Surti A, Guiducci C, Gianniny L, Mirel D, Parkin M, Burtt N, Gabriel SB, Samani NJ, Thompson JR, Braund PS, Wright BJ, Balmforth AJ, Ball SG, Hall A, Wellcome Trust Case Control Consortium, Schunkert H, Erdmann J, Linsel-Nitschke P, Lieb W, Ziegler A, König I, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Schunkert H, Samani NJ, Erdmann J, Ouwehand W, Hengstenberg C, Deloukas P, Scholz M, Cambien F, Reilly MP, Li M, Chen Z, Wilensky R, Matthai W, Qasim A, Hakonarson HH, Devaney J, Burnett MS, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Knouff CW, Waterworth DM, Walker MC, Mooser V, Epstein SE, Rader DJ, Scheffold T, Berger K, Stoll M, Huge A, Girelli D, Martinelli N, Olivieri O, Corrocher R, Morgan T, Spertus JA, McKeown P, Patterson CC, Schunkert H, Erdmann E, Linsel-Nitschke P, Lieb W, Ziegler A, König IR, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Hólm H, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Engert JC, Do R, Xie C, Anand S, Kathiresan S, Ardissino D, Mannucci PM, Siscovick D, O'Donnell CJ, Samani NJ, Melander O, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Altshuler D.

    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T, Corella D, Tai ES, Ordovas JM, Berglund G, Vartiainen E, Jousilahti P, Hedblad B, Taskinen MR, Newton-Cheh C, Salomaa V, Peltonen L, Groop L, Altshuler DM, Orho-Melander M.

    Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
    Wallace C, Newhouse SJ, Braund P, Zhang F, Tobin M, Falchi M, Ahmadi K, Dobson RJ, Marçano AC, Hajat C, Burton P, Deloukas P, Brown M, Connell JM, Dominiczak A, Lathrop GM, Webster J, Farrall M, Spector T, Samani NJ, Caulfield MJ, Munroe PB.

    03/13/2008
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