Property Summary

NCBI Gene PubMed Count 31
PubMed Score 115.62
PubTator Score 16.66

Knowledge Summary


No data available


  Disease (5)

Disease Target Count
Leukemia, Myelocytic, Acute 113
Disease Target Count P-value
esophageal adenocarcinoma 737 2.0e-02
non primary Sjogren syndrome sicca 840 2.1e-02
Disease Target Count Z-score Confidence
Cancer 2346 0.0 4.0
Disease Target Count Z-score Confidence
Enamel caries 8 3.351 1.7
Leukemia 88 3.335 1.7
Clear cell hidradenoma 2 3.11 1.6
Disease Target Count
Leukemia, Acute Myeloid 17


  Differential Expression (2)

Disease log2 FC p
esophageal adenocarcinoma -1.100 2.0e-02
non primary Sjogren syndrome sicca 1.100 2.1e-02

Gene RIF (13)

25784716 Endo II expression was highest in triple-negative breast cancers tumors compared with other subtypes, and at the level of gene expression, high Endo II was associated with reduced relapse-free survival in patients with basal-like breast cancers.
25517096 results establish a novel function of endoA2 in clathrin-independent endocytosis
24704450 these data suggest that EEN may play a pivotal role in excessive cell proliferation and insufficient cell apoptosis of bone marrow plasma cells in multiple myeloma.
23970061 MIR218 functions as a tumor suppressor by regulating SH3GL1 expression in medulloblastoma cancer cells.
23050879 SH3GL1 may be involved in the oncogenic process of gliomas and effectively elicit an autologous antibody response in low-grade gliomas.
22750032 Two endophilin A2 mutants, E264A and E264R, have different effects on how endophilin interacts with other proteins, such as dynamin or beta1-adrenergic receptors.
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
22183150 Idiopathic scoliosis is a multifactorial genetic disease and SH3GL1 may be one of the pathogenic genes for this disease.
20627007 SH3GL1 is possibly one of the disease associated genes of adolescent idiopathic scoliosis.
15944398 findings reveal a concomitant activation of endocytosis and ERK signaling by BPGAP1 via the coupling of its proline-rich region, which targets EEN and its functional GAP domain
15214844 Our results suggest that distinct subcellular localization of the endophilin A family members probably underpins their diverse cellular functions and indicates a role for EEN/EA2 in the cell cycle.
15077184 EEN part plays an essential role in leukemogenesis caused by MLL-EEN.
14551139 new mechanism for MLL-EEN-mediated leukemogenesis in which MLL-EEN interferes with the Ras-suppressing activities of EBP through direct interaction.

AA Sequence

QSGFFPLSYVEVLVPLPQ                                                        351 - 368

Text Mined References (42)

PMID Year Title
25784716 2015 Endophilin A2 Promotes TNBC Cell Invasion and Tumor Metastasis.
25517096 2015 Endophilin-A2 functions in membrane scission in clathrin-independent endocytosis.
25468996 2014 E-cadherin interactome complexity and robustness resolved by quantitative proteomics.
24704450 2014 EEN regulates the proliferation and survival of multiple myeloma cells by potentiating IGF-1 secretion.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23970061 2013 miR-218 is downregulated and directly targets SH3GL1 in childhood medulloblastoma.
23285027 2012 Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23050879 2012 Autologous antibody to src-homology 3-domain GRB2-like 1 specifically increases in the sera of patients with low-grade gliomas.
22750032 2012 Characterization of two distinct modes of endophilin in clathrin-mediated endocytosis.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
22183150 2012 Epidemiological survey of idiopathic scoliosis and sequence alignment analysis of multiple candidate genes.
21900206 2011 A directed protein interaction network for investigating intracellular signal transduction.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20627007 2010 [Comparative analysis of sequence alignment of SH3GL1 gene as a disease candidate gene of adolescent idiopathic scoliosis].
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19060904 2009 An empirical framework for binary interactome mapping.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18088087 2008 Phosphoproteome of resting human platelets.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17350572 2007 Structural and biochemical studies of ALIX/AIP1 and its role in retrovirus budding.
16990610 2007 Aberrant transcriptional regulation of the MLL fusion partner EEN by AML1-ETO and its implication in leukemogenesis.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
16115810 2005 Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.
15944398 2005 Activation of EGF receptor endocytosis and ERK1/2 signaling by BPGAP1 requires direct interaction with EEN/endophilin II and a functional RhoGAP domain.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15214844 2004 Subcellular localization of EEN/endophilin A2, a fusion partner gene in leukaemia.
15077184 2004 Functional contribution of EEN to leukemogenic transformation by MLL-EEN fusion protein.
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14551139 2004 Identification and characterization of EBP, a novel EEN binding protein that inhibits Ras signaling and is recruited into the nucleus by the MLL-EEN fusion protein.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11894095 2002 Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors.
10816441 2000 Expression and protein-binding studies of the EEN gene family, new interacting partners for dynamin, synaptojanin and huntingtin proteins.
10764144 2000 The interaction between EEN and Abi-1, two MLL fusion partners, and synaptojanin and dynamin: implications for leukaemogenesis.
10542231 1999 The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity.
9169142 1997 A novel SH3-containing human gene family preferentially expressed in the central nervous system.
9122235 1997 EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia.