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    SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 [ Homo sapiens (human) ]

    Gene ID: 6456, updated on 10-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    EndophilinA-dependent coupling between activity-induced calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation.

    EndophilinA-dependent coupling between activity-induced calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation.
    Bademosi AT, Decet M, Kuenen S, Calatayud C, Swerts J, Gallego SF, Schoovaerts N, Karamanou S, Louros N, Martin E, Sibarita JB, Vints K, Gounko NV, Meunier FA, Economou A, Versées W, Rousseau F, Schymkowitz J, Soukup SF, Verstreken P., Free PMC Article

    05/22/2023
    A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.

    A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.
    Jiang X, Jin X, Zhang N, Zhang H.

    04/13/2021
    Cancer Testis Antigen Promotes Triple Negative Breast Cancer Metastasis and is Traceable in the Circulating Extracellular Vesicles.

    Cancer Testis Antigen Promotes Triple Negative Breast Cancer Metastasis and is Traceable in the Circulating Extracellular Vesicles.
    Kannan A, Philley JV, Hertweck KL, Ndetan H, Singh KP, Sivakumar S, Wells RB, Vadlamudi RK, Dasgupta S., Free PMC Article

    10/31/2020
    miR-424-5p could affect the expression of tight junction proteins, ZO-1 and occludin, via Endophilin-1, and thereby regulate blood brain barrier (BBB) permeability in an BBB model in vitro with Amyloid-beta incubated endothelial cells.

    miR-424-5p maybe regulate blood-brain barrier permeability in a model in vitro with Abeta incubated endothelial cells.
    Lin M, Zhu L, Wang J, Xue Y, Shang X.

    05/30/2020
    In mammals, VGLUT1 gained a proline-rich sequence that recruits endophilinA1 and turns the transporter into a regulator of synaptic vesicles organization and spontaneous release.

    A proline-rich motif on VGLUT1 reduces synaptic vesicle super-pool and spontaneous release frequency.
    Zhang XM, François U, Silm K, Angelo MF, Fernandez-Busch MV, Maged M, Martin C, Bernard V, Cordelières FP, Deshors M, Pons S, Maskos U, Bemelmans AP, Wojcik SM, El Mestikawy S, Humeau Y, Herzog E., Free PMC Article

    04/11/2020
    endophilin A1 plays a critical role in epilepsy

    Endophilin A1 mediates seizure activity via regulation of AMPARs in a PTZ-kindled epileptic mouse model.
    Yu X, Xu T, Ou S, Yuan J, Deng J, Li R, Yang J, Liu X, Li Q, Chen Y.

    01/12/2019
    The results suggest that SH3GL2 suppresses migration and invasion behaviors of glioma cells through negatively regulating STAT3/MMP2 signaling.

    Loss of SH3GL2 promotes the migration and invasion behaviours of glioblastoma cells through activating the STAT3/MMP2 signalling.
    Zhu Y, Zhang X, Wang L, Ji Z, Xie M, Zhou X, Liu Z, Shi H, Yu R., Free PMC Article

    06/16/2018
    Alix acts in concert with endophilin A to promote clathrin-independent endocytosis of cholera toxin and to regulate cell migration.

    ALG-2 interacting protein-X (Alix) is essential for clathrin-independent endocytosis and signaling.
    Mercier V, Laporte MH, Destaing O, Blot B, Blouin CM, Pernet-Gallay K, Chatellard C, Saoudi Y, Albiges-Rizo C, Lamaze C, Fraboulet S, Petiot A, Sadoul R., Free PMC Article

    04/7/2018
    This study identified a new mitochondria reprogramming pathway influencing breast cancer progression through SH3GL2 and MFN2. These proteins were frequently lost in breast cancer, which was traceable in the circulating exosomes.

    Mitochondrial Reprogramming Regulates Breast Cancer Progression.
    Kannan A, Wells RB, Sivakumar S, Komatsu S, Singh KP, Samten B, Philley JV, Sauter ER, Ikebe M, Idell S, Gupta S, Dasgupta S.

    02/3/2018
    Endophilin-1 was a direct and functional downstream target of miR-107.

    MicroRNA-107 prevents amyloid-beta induced blood-brain barrier disruption and endothelial cell dysfunction by targeting Endophilin-1.
    Liu W, Cai H, Lin M, Zhu L, Gao L, Zhong R, Bi S, Xue Y, Shang X.

    05/13/2017
    Methylation status of SH3GL2 gene was associated with the TNM staging and HPV infection status of vulvar squamous cell carcinoma.

    Aberrant promoter methylation of SH3GL2 gene in vulvar squamous cell carcinoma correlates with clinicopathological characteristics and HPV infection status.
    Li B, He Y, Han X, Zhang S, Xu Y, Zhou Y, Song Z, Ouyang L., Free PMC Article

    10/29/2016
    Endophilin-1 positively regulated blood-brain barrier permeability via the EGFR-JNK signaling pathway in hCMEC/D3 cells, which would provide an experimental basis for further research on endophilin-1 mediated the opening of blood-brain barrier .

    Endophilin-1 regulates blood-brain barrier permeability via EGFR-JNK signaling pathway.
    Chen L, Liu W, Wang P, Xue Y, Su Q, Zeng C, Shang X.

    12/19/2015
    these results reveal a novel function of postsynaptic endophilin A1 in spine morphogenesis, stabilization and synaptic function through the regulation of p140Cap

    Endophilin A1 regulates dendritic spine morphogenesis and stability through interaction with p140Cap.
    Yang Y, Wei M, Xiong Y, Du X, Zhu S, Yang L, Zhang C, Liu JJ., Free PMC Article

    12/19/2015
    Data indicate that the presence of the susceptible G allele in SNP rs1049430 is associated with the inactivation of SH3-domain GRB2-like 2 protein (SH3GL2) and could be used as a prognostic marker of head and neck squamous cell carcinoma (HNSCC).

    SNP rs1049430 in the 3'-UTR of SH3GL2 regulates its expression: Clinical and prognostic implications in head and neck squamous cell carcinoma.
    Maiti GP, Ghosh A, Mondal P, Baral A, Datta S, Samadder S, Nayak SP, Chakrabarti J, Biswas J, Sikdar N, Chowdhury S, Roy B, Roychowdhury S, Panda CK.

    10/3/2015
    study described that endophilin-1 is expressed in hCMEC/D3 cells where it regulates the permeability of blood-brain barrier by altering the expression of ZO-1 and occludin via the EGFR-ERK1/2 pathway

    Endophilin-1 regulates blood-brain barrier permeability by controlling ZO-1 and occludin expression via the EGFR-ERK1/2 pathway.
    Liu W, Wang P, Shang C, Chen L, Cai H, Ma J, Yao Y, Shang X, Xue Y.

    02/21/2015
    miR-330 negatively regulated the expression of SH3GL2 in GSCs, which promoted the oncogenic progression of GSCs through activating ERK and PI3K/AKT signaling pathways.

    MiR-330-mediated regulation of SH3GL2 expression enhances malignant behaviors of glioblastoma stem cells by activating ERK and PI3K/AKT signaling pathways.
    Yao Y, Xue Y, Ma J, Shang C, Wang P, Liu L, Liu W, Li Z, Qu S, Li Z, Liu Y., Free PMC Article

    01/17/2015
    these findings identify loss of Sh3gl2 as a frequent event in Urothelial carcinoma (UC) development that promotes disease progression.

    Loss of Sh3gl2/endophilin A1 is a common event in urothelial carcinoma that promotes malignant behavior.
    Majumdar S, Gong EM, Di Vizio D, Dreyfuss J, Degraff DJ, Hager MH, Park PJ, Bellmunt J, Matusik RJ, Rosenberg JE, Adam RM., Free PMC Article

    02/1/2014
    this study suggests a novel mechanism in which Lpd mediates EGFR endocytosis via Mena downstream of endophilin.

    Endophilin, Lamellipodin, and Mena cooperate to regulate F-actin-dependent EGF-receptor endocytosis.
    Vehlow A, Soong D, Vizcay-Barrena G, Bodo C, Law AL, Perera U, Krause M., Free PMC Article

    12/21/2013
    Overexpression of EGFR in head and neck squamous cell carcinoma is associated with inactivation of SH3GL2 and CDC25A genes.

    Overexpression of EGFR in head and neck squamous cell carcinoma is associated with inactivation of SH3GL2 and CDC25A genes.
    Maiti GP, Mondal P, Mukherjee N, Ghosh A, Ghosh S, Dey S, Chakrabarty J, Roy A, Biswas J, Roychoudhury S, Panda CK., Free PMC Article

    12/21/2013
    Data suggest that expression of endothelin-1 and vWF (von Willebrand factor) is up-regulated and eNOS (endothelial nitric oxide synthase) activity is increased in radial artery in diabetic patients with coronary artery disease.

    Comparative study on the histomorphology and molecular biology of radial artery conduits in patients with diabetes mellitus who underwent coronary bypass surgery.
    Zou L, Chen X, Chen W, Li L, Huang F, Xiang F, Chen X.

    10/26/2013
    Our results indicate that SH3GL2 is frequently deleted in NSCLC and regulates cellular growth and invasion by modulating EGFR function.

    SH3GL2 is frequently deleted in non-small cell lung cancer and downregulates tumor growth by modulating EGFR signaling.
    Dasgupta S, Jang JS, Shao C, Mukhopadhyay ND, Sokhi UK, Das SK, Brait M, Talbot C, Yung RC, Begum S, Westra WH, Hoque MO, Yang P, Yi JE, Lam S, Gazdar AF, Fisher PB, Jen J, Sidransky D., Free PMC Article

    09/7/2013
    simulations constitute a multi-dimensional exploration of how EGF-dependent EGFR endocytosis and ERK activation are dynamically affected by scaffolds KSR and MP1, co-regulated by Cbl-CIN85 and Endophilin A1

    Simulating EGFR-ERK signaling control by scaffold proteins KSR and MP1 reveals differential ligand-sensitivity co-regulated by Cbl-CIN85 and endophilin.
    Huang L, Pan CQ, Li B, Tucker-Kellogg L, Tidor B, Chen Y, Low BC., Free PMC Article

    12/31/2011
    SH3GL2 participates in the regulation of apoptosis through the MEK-ERK signal pathway by adjusting EGFR in the laryngeal carcinoma cell line Hep2

    SH3GL2 gene participates in MEK-ERK signal pathway partly by regulating EGFR in the laryngeal carcinoma cell line Hep2.
    Shang C, Guo Y, Fu S, Fu W, Sun K.

    10/4/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.
    Cavanillas ML, Fernández O, Comabella M, Alcina A, Fedetz M, Izquierdo G, Lucas M, Cénit MC, Arroyo R, Vandenbroeck K, Alloza I, García-Barcina M, Antigüedad A, Leyva L, Gómez CL, Olascoaga J, Otaegui D, Blanco Y, Saiz A, Montalbán X, Matesanz F, Urcelay E.

    Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray.
    Lanktree MB, Hegele RA, Yusuf S, Anand SS.

    04/7/2010
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