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mutLBSgeneDB |
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| Gene summary for SEPT2 |
 Gene summary |
| Basic gene Info. | Gene symbol | SEPT2 |
| Gene name | septin 2 | |
| Synonyms | DIFF6|NEDD-5|NEDD5|Pnutl3|hNedd5 | |
| Cytomap | UCSC genome browser: 2q37 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001008491.2, NM_001008492.2,NM_001282972.1,NM_001282973.1,NM_004404.4, NM_006155.2, | |
| Description | neural precursor cell expressed developmentally down-regulated protein 5neural precursor cell expressed, developmentally down-regulated 5septin-2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601506 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000168385 | ||
| HPRD : 03297 | ||
| Vega : OTTHUMG00000133394 | ||
| Protein | UniProt: Q15019 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SEPT2 | |
| BioGPS: 4735 | ||
| Pathway | NCI Pathway Interaction Database: SEPT2 | |
| KEGG: SEPT2 | ||
| REACTOME: SEPT2 | ||
| Pathway Commons: SEPT2 | ||
| Context | iHOP: SEPT2 | |
| ligand binding site mutation search in PubMed: SEPT2 | ||
| UCL Cancer Institute: SEPT2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for SEPT2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T186 | T186A | COAD | 2 | G241 | G241A | COAD | 1 | D185 | D185A | KIRC | 1 | G49 | G49E | LUAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for SEPT2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | T186 | T186A | -0.73232732 | D185 | D185A | -0.5279673 | G241 | G241A | -0.31303429 | G49 | G49E | -0.1360859 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for SEPT2 from PDB |
| PDB ID | PDB title | PDB structure | 2QNR | Human septin 2 in complex with GDP |  |
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| Differential gene expression and gene-gene network for SEPT2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for SEPT2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268583 | Methylmalonic acidemia | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SEPT2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SEPT2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GDP | GUANOSINE-5'-DIPHOSPHATE | 2qag | A | G49 D185 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2qa5 | A | G49 D185 G241 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2qa5 | B | G49 D185 G241 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2qnr | A | G49 D185 G241 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2qnr | B | G49 D185 G241 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2qa5 | B | T186 | GTP | GTP | 2qag | A | T186 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2qnr | A | T186 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2qnr | B | T186 |
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| Conservation information for LBS of SEPT2 |
| Multiple alignments for Q15019 in multiple species |
| LBS | AA sequence | # species | Species | D185 | VIAKADTLTLK | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | D185 | VIAKADCLTKK | 1 | Drosophila melanogaster | D185 | VIAKADTLTLR | 1 | Xenopus tropicalis | E191 | TLTLKERERLK | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | E191 | CLTKKEILRLK | 1 | Drosophila melanogaster | E191 | TLTLRERERLK | 1 | Xenopus tropicalis | G241 | PFSVVGSNQLI | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | G241 | PFAVCGANTLL | 1 | Drosophila melanogaster | G241 | PFTVVGSNQLI | 1 | Xenopus tropicalis | G47 | VVGESGLGKST | 6 | Homo sapiens, Drosophila melanogaster, Xenopus tropicalis, Bos taurus, Rattus norvegicus, Mus musculus | G49 | GESGLGKSTLI | 5 | Homo sapiens, Xenopus tropicalis, Bos taurus, Rattus norvegicus, Mus musculus | G49 | GESGLGKSTLV | 1 | Drosophila melanogaster | K183 | VPVIAKADTLT | 5 | Homo sapiens, Xenopus tropicalis, Bos taurus, Rattus norvegicus, Mus musculus | K183 | VPVIAKADCLT | 1 | Drosophila melanogaster | K50 | ESGLGKSTLIN | 5 | Homo sapiens, Xenopus tropicalis, Bos taurus, Rattus norvegicus, Mus musculus | K50 | ESGLGKSTLVN | 1 | Drosophila melanogaster | L48 | VGESGLGKSTL | 6 | Homo sapiens, Drosophila melanogaster, Xenopus tropicalis, Bos taurus, Rattus norvegicus, Mus musculus | R194 | LKERERLKKRI | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | R194 | KKEILRLKCRI | 1 | Drosophila melanogaster | R194 | LRERERLKRRV | 1 | Xenopus tropicalis | R256 | KKVRGRLYPWG | 6 | Homo sapiens, Drosophila melanogaster, Xenopus tropicalis, Bos taurus, Rattus norvegicus, Mus musculus | S46 | MVVGESGLGKS | 6 | Homo sapiens, Drosophila melanogaster, Xenopus tropicalis, Bos taurus, Rattus norvegicus, Mus musculus | S51 | SGLGKSTLINS | 5 | Homo sapiens, Xenopus tropicalis, Bos taurus, Rattus norvegicus, Mus musculus | S51 | SGLGKSTLVNS | 1 | Drosophila melanogaster | T186 | IAKADTLTLKE | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | T186 | IAKADCLTKKE | 1 | Drosophila melanogaster | T186 | IAKADTLTLRE | 1 | Xenopus tropicalis | T52 | GLGKSTLINSL | 5 | Homo sapiens, Xenopus tropicalis, Bos taurus, Rattus norvegicus, Mus musculus | T52 | GLGKSTLVNSL | 1 | Drosophila melanogaster | V240 | IPFSVVGSNQL | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | V240 | VPFAVCGANTL | 1 | Drosophila melanogaster | V240 | IPFTVVGSNQL | 1 | Xenopus tropicalis | Y258 | VRGRLYPWGVV | 6 | Homo sapiens, Drosophila melanogaster, Xenopus tropicalis, Bos taurus, Rattus norvegicus, Mus musculus |
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