SEPTIN2, septin 2, 4735

N. diseases: 44; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
0.310 Biomarker group PSYGENET By screening a cDNA library from human umbilical artery endothelial cells with serum from an SLE patient with psychosis, we identified one positive strongly reactive clone encoding the C-terminal region (C-ter) of Nedd5, an intracytoplasmatic protein of the septin family. 15987492 2005
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
0.310 GeneticVariation group BEFREE By screening a cDNA library from human umbilical artery endothelial cells with serum from an SLE patient with psychosis, we identified one positive strongly reactive clone encoding the C-terminal region (C-ter) of Nedd5, an intracytoplasmatic protein of the septin family. 15987492 2005
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
0.310 GeneticVariation disease BEFREE By screening a cDNA library from human umbilical artery endothelial cells with serum from an SLE patient with psychosis, we identified one positive strongly reactive clone encoding the C-terminal region (C-ter) of Nedd5, an intracytoplasmatic protein of the septin family. 15987492 2005
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
0.310 Biomarker disease PSYGENET By screening a cDNA library from human umbilical artery endothelial cells with serum from an SLE patient with psychosis, we identified one positive strongly reactive clone encoding the C-terminal region (C-ter) of Nedd5, an intracytoplasmatic protein of the septin family. 15987492 2005
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
0.300 Biomarker phenotype CTD_human Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. 16823967 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
0.300 Biomarker disease CTD_human Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. 16823967 2006
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0489786
Disease: Height
Height
0.100 GeneticVariation phenotype GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE Septin 2 (SEPT2) is a tumor-related gene belonging to the SEPT family that affects the cellular processes of hepatoma carcinoma cells, glioblastoma cells and mesangial cells and is highly expressed in breast cancer, biliary tract cancer and acute myeloid leukemia. 31402940 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE Repression of Septin9 and Septin2 suppresses tumor growth of human glioblastoma cells. 29724999 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 AlteredExpression group BEFREE Xenografts formation assay also showed that SEPT2 overexpression significantly facilitated the growth of tumor in vivo. 27155525 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 AlteredExpression group BEFREE We have recently shown a significant down-regulation of both SEPT2 and MLL in myeloid neoplasias with the MLL-SEPT2 fusion gene. 19748670 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE We found a significant down-regulation of both SEPT2 and MLL in MLL-SEPT2 myeloid neoplasias. 19445675 2009
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.030 AlteredExpression disease BEFREE Septin 2 (SEPT2) is a tumor-related gene belonging to the SEPT family that affects the cellular processes of hepatoma carcinoma cells, glioblastoma cells and mesangial cells and is highly expressed in breast cancer, biliary tract cancer and acute myeloid leukemia. 31402940 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.030 AlteredExpression disease BEFREE HCC with high expression of both CDK2 and SEPT2 are more likely to relapse. 30444001 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.030 AlteredExpression disease BEFREE Interestingly, the effects of SEPT2 on the above factors could be suppressed by PPARγ overexpression, suggesting that PPARγ could inhibit HCC cell growth via regulating the expression and blocking the oncogenic function of SEPT2. 25592041 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.030 Biomarker disease BEFREE The phosphorylation of SEPT2 on Ser218 by casein kinase 2 is important to hepatoma carcinoma cell proliferation. 19165576 2009
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.030 Biomarker disease BEFREE SEPT2 is the fifth septin family gene fused with MLL, making this gene family the most frequently involved in MLL-related AML (about 10% of all known fusion partners). 16682951 2006
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.030 GeneticVariation disease BEFREE The AF17q25 protein is homologous to septin family proteins, including H5, NEDD5, CDC10, and hCDCrel, which is one of the fusion partners of MLL in t(11;22)(q23;q11)-AML. 10485469 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 AlteredExpression disease BEFREE Septin 2 (SEPT2) is a tumor-related gene belonging to the SEPT family that affects the cellular processes of hepatoma carcinoma cells, glioblastoma cells and mesangial cells and is highly expressed in breast cancer, biliary tract cancer and acute myeloid leukemia. 31402940 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE Further validation of target proteins indicated that septin-2 plays a predominant role in post-transcriptional and translational modifications as well as cellular metabolism, and suggested the potential novel role of septin-2 in promoting EOC tumorigenesis through these mechanisms. 31105878 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 AlteredExpression disease BEFREE Septin 2 (SEPT2) is a tumor-related gene belonging to the SEPT family that affects the cellular processes of hepatoma carcinoma cells, glioblastoma cells and mesangial cells and is highly expressed in breast cancer, biliary tract cancer and acute myeloid leukemia. 31402940 2019
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer
0.020 AlteredExpression disease BEFREE Septin 2 (SEPT2) is a tumor-related gene belonging to the SEPT family that affects the cellular processes of hepatoma carcinoma cells, glioblastoma cells and mesangial cells and is highly expressed in breast cancer, biliary tract cancer and acute myeloid leukemia. 31402940 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 Biomarker disease BEFREE The requirement of SEPT2 and SEPT7 for migration and invasion in human breast cancer via MEK/ERK activation. 27557506 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE Taken together, these results strongly suggest that SEPT2 and SEPT7 are involved in breast carcinogenesis and may serve as valuable therapeutic targets for breast cancer. 27557506 2016