mutLBSgeneDB |
Gene summary for ITSN2 |
Gene summary |
Basic gene Info. | Gene symbol | ITSN2 |
Gene name | intersectin 2 | |
Synonyms | PRO2015|SH3D1B|SH3P18|SWA|SWAP | |
Cytomap | UCSC genome browser: 2p23.3 | |
Type of gene | protein-coding | |
RefGenes | NM_006277.2, NM_019595.3,NM_147152.2, | |
Description | SH3 domain-containing protein 1BSH3P18-like WASP-associated proteinintersectin-2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 604464 | |
HGNC : HGNC | ||
Ensembl : ENSG00000198399 | ||
HPRD : 09193 | ||
Vega : OTTHUMG00000090818 | ||
Protein | UniProt: Q9NZM3 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ITSN2 | |
BioGPS: 50618 | ||
Pathway | NCI Pathway Interaction Database: ITSN2 | |
KEGG: ITSN2 | ||
REACTOME: ITSN2 | ||
Pathway Commons: ITSN2 | ||
Context | iHOP: ITSN2 | |
ligand binding site mutation search in PubMed: ITSN2 | ||
UCL Cancer Institute: ITSN2 | ||
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 ITSN2 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | W934 | N933D | KIRC | 1 | D914 | K912N | 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 ITSN2 |
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 |
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 | W934 | N933D | -1.1229959 | D914 | K912N | -1.063807 |
(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 ITSN2 from PDB |
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Differential gene expression and gene-gene network for ITSN2 |
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 ITSN2 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1527336 | Sjogren's Syndrome | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for ITSN2 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ITSN2 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ACE,TRP,ARG,GLY,SER,LEU,SER,TYR,LEU,LYS,GLY,PRO,LEU) | 4iio | B | D914 W934 |
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Conservation information for LBS of ITSN2 |
Multiple alignments for Q9NZM3 in multiple species |
LBS | AA sequence | # species | Species |
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