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EPHA2 Gene Mutation

MedGen UID:
1615208
•Concept ID:
C4524815
•
Cell or Molecular Dysfunction
Synonyms: ECK Gene Mutation; EPH Receptor A2 Gene Mutation; Ephrin Receptor A2 Gene Mutation

Definition

A change in the nucleotide sequence of the EPHA2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEPHA2 Gene Mutation

Professional guidelines

PubMed

Treatment patterns, clinical outcomes and gene mutation characteristics of hepatitis B virus-associated mantle cell lymphoma.
Feng J, Fei Y, Gao M, Meng X, Zeng D, Zou D, Ye H, Liang Y, Sun X, Liang R, Zhou H, Wang X, Zhang H
Hematol Oncol 2024 May;42(3):e3268. doi: 10.1002/hon.3268. PMID: 38676394
Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.
Fernández-Alcalde C, Nieves-Moreno M, Noval S, Peralta JM, Montaño VEF, Del Pozo Á, Santos-Simarro F, Vallespín E
Genes (Basel) 2021 Apr 16;12(4) doi: 10.3390/genes12040580. PMID: 33923544Free PMC Article
FGFR2 genomic aberrations: Achilles heel in the management of advanced cholangiocarcinoma.
Mahipal A, Tella SH, Kommalapati A, Anaya D, Kim R
Cancer Treat Rev 2019 Aug;78:1-7. Epub 2019 Jun 22 doi: 10.1016/j.ctrv.2019.06.003. PMID: 31255945

Recent clinical studies

Etiology

Unveiling an anoikis-related risk model and the role of RAD9A in colon cancer.
Yang T, Liu YL, Guo HL, Peng XF, Zhang B, Wang D, Yao HF, Zhang JF, Wang XY, Chen PC, Xu DP
Int Immunopharmacol 2024 Oct 25;140:112874. Epub 2024 Aug 6 doi: 10.1016/j.intimp.2024.112874. PMID: 39116498
Treatment patterns, clinical outcomes and gene mutation characteristics of hepatitis B virus-associated mantle cell lymphoma.
Feng J, Fei Y, Gao M, Meng X, Zeng D, Zou D, Ye H, Liang Y, Sun X, Liang R, Zhou H, Wang X, Zhang H
Hematol Oncol 2024 May;42(3):e3268. doi: 10.1002/hon.3268. PMID: 38676394
Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines.
Glykofridis IE, Henneman AA, Balk JA, Goeij-de Haas R, Westland D, Piersma SR, Knol JC, Pham TV, Boekhout M, Zwartkruis FJT, Wolthuis RMF, Jimenez CR
Mol Cell Proteomics 2022 Sep;21(9):100263. Epub 2022 Jul 19 doi: 10.1016/j.mcpro.2022.100263. PMID: 35863698Free PMC Article
Eph and Ephrin Variants in Malaysian Neural Tube Defect Families.
Mohd-Zin SW, Tan ACW, Atroosh WM, Thong MK, Azizi AB, Greene NDE, Abdul-Aziz NM
Genes (Basel) 2022 May 26;13(6) doi: 10.3390/genes13060952. PMID: 35741713Free PMC Article
Clinical impact of hepatitis B and C virus envelope glycoproteins.
Jeulin H, Velay A, Murray J, Schvoerer E
World J Gastroenterol 2013 Feb 7;19(5):654-64. doi: 10.3748/wjg.v19.i5.654. PMID: 23429668Free PMC Article

Diagnosis

Therapeutic targeting of ARID1A and PI3K/AKT pathway alterations in cholangiocarcinoma.
Tessiri S, Techasen A, Kongpetch S, Namjan A, Loilome W, Chan-On W, Thanan R, Jusakul A
PeerJ 2022;10:e12750. Epub 2022 Jan 13 doi: 10.7717/peerj.12750. PMID: 35070505Free PMC Article
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.
Harding P, Toms M, Schiff E, Owen N, Bell S, Lloyd IC, Moosajee M
Int J Mol Sci 2021 Feb 22;22(4) doi: 10.3390/ijms22042190. PMID: 33671840Free PMC Article
Enhanced YB1/EphA2 axis signaling promotes acquired resistance to sunitinib and metastatic potential in renal cell carcinoma.
Ruan H, Li S, Bao L, Zhang X
Oncogene 2020 Sep;39(38):6113-6128. Epub 2020 Aug 19 doi: 10.1038/s41388-020-01409-6. PMID: 32814829Free PMC Article
EPHB6 mutation induces cell adhesion-mediated paclitaxel resistance via EPHA2 and CDH11 expression.
Yoon S, Choi JH, Kim SJ, Lee EJ, Shah M, Choi S, Woo HG
Exp Mol Med 2019 Jun 3;51(6):1-12. doi: 10.1038/s12276-019-0261-z. PMID: 31160603Free PMC Article
Clinical impact of hepatitis B and C virus envelope glycoproteins.
Jeulin H, Velay A, Murray J, Schvoerer E
World J Gastroenterol 2013 Feb 7;19(5):654-64. doi: 10.3748/wjg.v19.i5.654. PMID: 23429668Free PMC Article

Therapy

Treatment patterns, clinical outcomes and gene mutation characteristics of hepatitis B virus-associated mantle cell lymphoma.
Feng J, Fei Y, Gao M, Meng X, Zeng D, Zou D, Ye H, Liang Y, Sun X, Liang R, Zhou H, Wang X, Zhang H
Hematol Oncol 2024 May;42(3):e3268. doi: 10.1002/hon.3268. PMID: 38676394
Emerging roles for the GPI-anchored tumor suppressor OPCML in cancers.
Antony J, Zanini E, Birtley JR, Gabra H, Recchi C
Cancer Gene Ther 2021 Feb;28(1-2):18-26. Epub 2020 Jun 29 doi: 10.1038/s41417-020-0187-6. PMID: 32595215
EPHB6 mutation induces cell adhesion-mediated paclitaxel resistance via EPHA2 and CDH11 expression.
Yoon S, Choi JH, Kim SJ, Lee EJ, Shah M, Choi S, Woo HG
Exp Mol Med 2019 Jun 3;51(6):1-12. doi: 10.1038/s12276-019-0261-z. PMID: 31160603Free PMC Article
Targeting EphA2 with miR-124 mediates Erlotinib resistance in K-RAS mutated pancreatic cancer.
Du J, He Y, Wu W, Li P, Chen Y, Hu Z, Han Y
J Pharm Pharmacol 2019 Feb;71(2):196-205. Epub 2019 Jan 2 doi: 10.1111/jphp.12941. PMID: 30604411
Clinical impact of hepatitis B and C virus envelope glycoproteins.
Jeulin H, Velay A, Murray J, Schvoerer E
World J Gastroenterol 2013 Feb 7;19(5):654-64. doi: 10.3748/wjg.v19.i5.654. PMID: 23429668Free PMC Article

Prognosis

Comprehensive analysis of EphA2 in pan-cancer: A prognostic biomarker associated with cancer immunity.
Li Y, Fei H, Xiao Z, Lu X, Zhang H, Liu M
Clin Exp Pharmacol Physiol 2024 Aug;51(8):e13902. doi: 10.1111/1440-1681.13902. PMID: 38886133
Treatment patterns, clinical outcomes and gene mutation characteristics of hepatitis B virus-associated mantle cell lymphoma.
Feng J, Fei Y, Gao M, Meng X, Zeng D, Zou D, Ye H, Liang Y, Sun X, Liang R, Zhou H, Wang X, Zhang H
Hematol Oncol 2024 May;42(3):e3268. doi: 10.1002/hon.3268. PMID: 38676394
Functional analysis of deleterious EPHA2 SNPs in lens epithelial cells.
Li D, Han X, Zhao Z, Lu Y, Yang J
Mol Vis 2021;27:403-414. Epub 2021 Jul 1 PMID: 34267496Free PMC Article
FGFR2 genomic aberrations: Achilles heel in the management of advanced cholangiocarcinoma.
Mahipal A, Tella SH, Kommalapati A, Anaya D, Kim R
Cancer Treat Rev 2019 Aug;78:1-7. Epub 2019 Jun 22 doi: 10.1016/j.ctrv.2019.06.003. PMID: 31255945
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM, M'Hamdi O, Hejtmancik JF, Shiels A
PLoS One 2017;12(12):e0189881. Epub 2017 Dec 21 doi: 10.1371/journal.pone.0189881. PMID: 29267365Free PMC Article

Clinical prediction guides

Unveiling an anoikis-related risk model and the role of RAD9A in colon cancer.
Yang T, Liu YL, Guo HL, Peng XF, Zhang B, Wang D, Yao HF, Zhang JF, Wang XY, Chen PC, Xu DP
Int Immunopharmacol 2024 Oct 25;140:112874. Epub 2024 Aug 6 doi: 10.1016/j.intimp.2024.112874. PMID: 39116498
Treatment patterns, clinical outcomes and gene mutation characteristics of hepatitis B virus-associated mantle cell lymphoma.
Feng J, Fei Y, Gao M, Meng X, Zeng D, Zou D, Ye H, Liang Y, Sun X, Liang R, Zhou H, Wang X, Zhang H
Hematol Oncol 2024 May;42(3):e3268. doi: 10.1002/hon.3268. PMID: 38676394
Functional analysis of deleterious EPHA2 SNPs in lens epithelial cells.
Li D, Han X, Zhao Z, Lu Y, Yang J
Mol Vis 2021;27:403-414. Epub 2021 Jul 1 PMID: 34267496Free PMC Article
Emerging roles for the GPI-anchored tumor suppressor OPCML in cancers.
Antony J, Zanini E, Birtley JR, Gabra H, Recchi C
Cancer Gene Ther 2021 Feb;28(1-2):18-26. Epub 2020 Jun 29 doi: 10.1038/s41417-020-0187-6. PMID: 32595215
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
Bennett TM, M'Hamdi O, Hejtmancik JF, Shiels A
PLoS One 2017;12(12):e0189881. Epub 2017 Dec 21 doi: 10.1371/journal.pone.0189881. PMID: 29267365Free PMC Article

Recent systematic reviews

Liposomal delivery of gene therapy for ovarian cancer: a systematic review.
Son JS, Chow R, Kim H, Lieu T, Xiao M, Kim S, Matuszewska K, Pereira M, Nguyen DL, Petrik J
Reprod Biol Endocrinol 2023 Aug 23;21(1):75. doi: 10.1186/s12958-023-01125-2. PMID: 37612696Free PMC Article

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