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mutLBSgeneDB |
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| Gene summary for SRSF2 |
 Gene summary |
| Basic gene Info. | Gene symbol | SRSF2 |
| Gene name | serine/arginine-rich splicing factor 2 | |
| Synonyms | PR264|SC-35|SC35|SFRS2|SFRS2A|SRp30b | |
| Cytomap | UCSC genome browser: 17q25.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001195427.1, NM_003016.4,NR_036608.1, | |
| Description | SR splicing factor 2splicing component, 35 kDasplicing factor SC35splicing factor, arginine/serine-rich 2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600813 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000161547 | ||
| HPRD : 02888 | ||
| Vega : OTTHUMG00000177547 | ||
| Protein | UniProt: Q01130 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SRSF2 | |
| BioGPS: 6427 | ||
| Pathway | NCI Pathway Interaction Database: SRSF2 | |
| KEGG: SRSF2 | ||
| REACTOME: SRSF2 | ||
| Pathway Commons: SRSF2 | ||
| Context | iHOP: SRSF2 | |
| ligand binding site mutation search in PubMed: SRSF2 | ||
| UCL Cancer Institute: SRSF2 | ||
| 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 SRSF2 |
| 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 | Y50 | T51I | SKCM | 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 SRSF2 |
| 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 | Y50 | T51I | -0.61219961 |
| (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 SRSF2 from PDB |
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| Differential gene expression and gene-gene network for SRSF2 |
| 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 SRSF2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007097 | Carcinoma | 1 | Biomarker |
| umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SRSF2 |
| 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 SRSF2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2leb | A | Y50 |
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| Conservation information for LBS of SRSF2 |
| Multiple alignments for Q01130 in multiple species |
| LBS | AA sequence | # species | Species | A90 | LRVQMARYGRP | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | D42 | YGRVGDVYIPR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | D48 | VYIPRDRYTKE | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | F57 | KESRGFAFVRF | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | F59 | SRGFAFVRFHD | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | G4 | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | G56 | TKESRGFAFVR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | G93 | QMARYGRPPDS | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | H99 | RPPDSHHSRRG | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | K17 | GMTSLKVDNLT | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | M1 | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | M89 | ELRVQMARYGR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | N20 | SLKVDNLTYRT | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | P46 | GDVYIPRDRYT | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | P6 | MSYGRPPPDVE | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | P95 | ARYGRPPDSHH | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | R49 | YIPRDRYTKES | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | R5 | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | R61 | GFAFVRFHDKR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | R91 | RVQMARYGRPP | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | R94 | MARYGRPPDSH | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | S98 | GRPPDSHHSRR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | V43 | GRVGDVYIPRD | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | Y3 | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | Y44 | RVGDVYIPRDR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | Y50 | IPRDRYTKESR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes |
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