Property Summary

NCBI Gene PubMed Count 70
PubMed Score 55.86
PubTator Score 24.15

Knowledge Summary


No data available


  Disease Sources (4)

Disease Target Count
Parkinson Disease 105
Disease Target Count P-value
posterior fossa group A ependymoma 1511 2.7762615573465E-16
lung carcinoma 2844 1.6970251262654E-14
atypical teratoid / rhabdoid tumor 4369 2.00363371684367E-11
psoriasis 6685 1.09501689470973E-10
astrocytoma 1493 4.09902113755845E-10
pilocytic astrocytoma 3086 4.44430032085725E-10
oligodendroglioma 2849 7.23857194425815E-8
medulloblastoma, large-cell 6234 1.84250102334002E-7
interstitial cystitis 2299 4.37312035308442E-7
ovarian cancer 8492 1.502315012054E-6
pediatric high grade glioma 2712 4.46992771419332E-6
glioblastoma 5572 1.70192633888706E-5
primitive neuroectodermal tumor 3031 9.20649309063328E-5
urothelial carcinoma 318 1.00484455860753E-4
subependymal giant cell astrocytoma 2287 0.00281190456645577
nephrosclerosis 329 0.00422417642796433
gastric carcinoma 832 0.00948288879564788
group 3 medulloblastoma 2254 0.0142708232039303
Pick disease 1893 0.015387730322724
Disease Target Count Z-score Confidence
Multiple Sclerosis 498 0.0 1.0
Parkinson's disease 364 0.0 1.0
Disease Target Count Z-score Confidence
Spinocerebellar ataxia type 2 19 3.633 1.8


  Differential Expression (19)

Disease log2 FC p
nephrosclerosis -1.505 0.004
urothelial carcinoma -4.400 0.000
astrocytoma -2.000 0.000
posterior fossa group A ependymoma -5.300 0.000
oligodendroglioma -2.100 0.000
glioblastoma -5.100 0.000
group 3 medulloblastoma -2.500 0.014
atypical teratoid / rhabdoid tumor -5.900 0.000
medulloblastoma, large-cell -3.800 0.000
primitive neuroectodermal tumor -3.500 0.000
interstitial cystitis -4.400 0.000
pediatric high grade glioma -3.600 0.000
pilocytic astrocytoma -3.200 0.000
subependymal giant cell astrocytoma -3.326 0.003
lung carcinoma 1.600 0.000
Pick disease -1.800 0.015
gastric carcinoma -3.600 0.009
ovarian cancer -2.100 0.000
psoriasis -1.200 0.000


Accession Q99962 B2R618 Q9NQK5
Symbols CNSA2



1X03   1X04   2D4C   2DBM  

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Chicken OMA Inparanoid
Xenopus OMA Inparanoid

 GO Function (1)

 GWAS Trait (1)

Gene RIF (20)

26823912 Methylation status of SH3GL2 gene was associated with the TNM staging and HPV infection status of vulvar squamous cell carcinoma.
25771685 these results reveal a novel function of postsynaptic endophilin A1 in spine morphogenesis, stabilization and synaptic function through the regulation of p140Cap
25728707 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).
25721793 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 .
24854121 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
24736727 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.
24076656 this study suggests a novel mechanism in which Lpd mediates EGFR endocytosis via Mena downstream of endophilin.
23814487 these findings identify loss of Sh3gl2 as a frequent event in Urothelial carcinoma (UC) development that promotes disease progression.
23675485 Overexpression of EGFR in head and neck squamous cell carcinoma is associated with inactivation of SH3GL2 and CDC25A genes.
23029364 SH3GL2 gene was identified as the target of miR-330. miRNA-330 plays an oncogenic role in human glioblastoma by regulating SH3GL2 gene and might be a new therapeutic target of human glioblastoma.

AA Sequence

PH                                                                        351 - 352

Text Mined References (74)

PMID Year Title
26823912 2015 Aberrant promoter methylation of SH3GL2 gene in vulvar squamous cell carcinoma correlates with clinicopathological characteristics and HPV infection status.
25771685 2015 Endophilin A1 regulates dendritic spine morphogenesis and stability through interaction with p140Cap.
25728707 2015 SNP rs1049430 in the 3'-UTR of SH3GL2 regulates its expression: Clinical and prognostic implications in head and neck squamous cell carcinoma.
25721793 2015 Endophilin-1 regulates blood-brain barrier permeability via EGFR-JNK signaling pathway.
25501810 2015 LRRK2 functions in synaptic vesicle endocytosis through a kinase-dependent mechanism.
24854121 2014 Endophilin-1 regulates blood-brain barrier permeability by controlling ZO-1 and occludin expression via the EGFR-ERK1/2 pathway.
24736727 2014 MiR-330-mediated regulation of SH3GL2 expression enhances malignant behaviors of glioblastoma stem cells by activating ERK and PI3K/AKT signaling pathways.
24658140 2014 The mammalian-membrane two-hybrid assay (MaMTH) for probing membrane-protein interactions in human cells.
24076656 2013 Endophilin, Lamellipodin, and Mena cooperate to regulate F-actin-dependent EGF-receptor endocytosis.
23814487 2013 Loss of Sh3gl2/endophilin A1 is a common event in urothelial carcinoma that promotes malignant behavior.