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mutLBSgeneDB |
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| Gene summary for NKX2-5 |
 Gene summary |
| Basic gene Info. | Gene symbol | NKX2-5 |
| Gene name | NK2 homeobox 5 | |
| Synonyms | CHNG5|CSX|CSX1|HLHS2|NKX2.5|NKX2E|NKX4-1|VSD3 | |
| Cytomap | UCSC genome browser: 5q34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001166175.1, NM_001166176.1,NM_004387.3, | |
| Description | NK2 transcription factor related, locus 5cardiac-specific homeobox 1homeobox protein CSXhomeobox protein NK-2 homolog Ehomeobox protein Nkx-2.5tinman paralog | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600584 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000183072 | ||
| HPRD : 02787 | ||
| Vega : OTTHUMG00000130522 | ||
| Protein | UniProt: P52952 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NKX2-5 | |
| BioGPS: 1482 | ||
| Pathway | NCI Pathway Interaction Database: NKX2-5 | |
| KEGG: NKX2-5 | ||
| REACTOME: NKX2-5 | ||
| Pathway Commons: NKX2-5 | ||
| Context | iHOP: NKX2-5 | |
| ligand binding site mutation search in PubMed: NKX2-5 | ||
| UCL Cancer Institute: NKX2-5 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0045893 | positive regulation of transcription, DNA-templated | 11431700 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 10948187 |
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| Ligand binding site mutations for NKX2-5 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y162 | R161W | COAD | 1 | Y162 | Y162C | COAD | 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 NKX2-5 |
| 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 | Y162 | R161W | -0.69506609 | Y162 | Y162C | -0.41079809 |
| (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 NKX2-5 from PDB |
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| Differential gene expression and gene-gene network for NKX2-5 |
| 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 NKX2-5 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0039685 | Tetralogy of Fallot | 13 | Biomarker, GeneticVariation |
| umls:C0013069 | Double Outlet Right Ventricle | 2 | Biomarker, GeneticVariation |
| umls:C0685889 | Splenic Hypoplasia | 1 | GeneticVariation |
| umls:C0004238 | Atrial Fibrillation | 1 | Biomarker |
| umls:C0027126 | Myotonic Dystrophy | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NKX2-5 |
| 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 NKX2-5 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3rkq | A | Y162 | NUC | Nucleic Acids | 3rkq | B | Y162 | NUC | Nucleic Acids | 4s0h | B | Y162 |
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| Conservation information for LBS of NKX2-5 |
| Multiple alignments for P52952 in multiple species |
| LBS | AA sequence | # species | Species | F145 | KPRVLFSQAQV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I184 | STQVKIWFQNR | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K15 | TPFSVKDILNL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K183 | TSTQVKIWFQN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | L144 | RKPRVLFSQAQ | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | N188 | KIWFQNRRYKC | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Q181 | KLTSTQVKIWF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Q187 | VKIWFQNRRYK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R142 | RRRKPRVLFSQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R142 | KRRKPRVLFSQ | 1 | Gallus gallus | R168 | LSAPERDQLAS | 2 | Homo sapiens, Mus musculus | R168 | LSAPERDHLAN | 1 | Gallus gallus | R168 | LSPAERDQLAS | 1 | Rattus norvegicus | W185 | TQVKIWFQNRR | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Y162 | FKQQRYLSAPE | 2 | Homo sapiens, Mus musculus | Y162 | FKQQKYLSAPE | 1 | Gallus gallus | Y162 | FKQQRYLSPAE | 1 | Rattus norvegicus |
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