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mutLBSgeneDB |
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| Gene summary for PHKG2 |
 Gene summary |
| Basic gene Info. | Gene symbol | PHKG2 |
| Gene name | phosphorylase kinase, gamma 2 (testis) | |
| Synonyms | GSD9C | |
| Cytomap | UCSC genome browser: 16p11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000294.2, NM_001172432.1, | |
| Description | PHK-gamma-LTPHK-gamma-TPSK-C3Phosphorylase kinase, gamma 2 (testis/liver)phosphorylase b kinase gamma catalytic chain, liver/testis isoformphosphorylase b kinase gamma catalytic chain, testis/liver isoformphosphorylase kinase subunit gamma-2serine/ | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 172471 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000156873 | ||
| HPRD : 01405 | ||
| Vega : OTTHUMG00000132400 | ||
| Protein | UniProt: P15735 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PHKG2 | |
| BioGPS: 5261 | ||
| Pathway | NCI Pathway Interaction Database: PHKG2 | |
| KEGG: PHKG2 | ||
| REACTOME: PHKG2 | ||
| Pathway Commons: PHKG2 | ||
| Context | iHOP: PHKG2 | |
| ligand binding site mutation search in PubMed: PHKG2 | ||
| UCL Cancer Institute: PHKG2 | ||
| 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 |
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| Ligand binding site mutations for PHKG2 |
| 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 | G113 | E114K | BLCA | 1 | A51 | A51T | STAD | 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 PHKG2 |
| 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 | G113 | E114K | -1.4975966 | A51 | A51T | -1.0837233 |
| (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 PHKG2 from PDB |
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| Differential gene expression and gene-gene network for PHKG2 |
| 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 PHKG2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2751643 | Glycogen Storage Disease IXC | 2 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PHKG2 |
| 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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| Gene-centered drug-gene interaction network |
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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 PHKG2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | B49 | SUNITINIB | 2y7j | A | A51 G113 | B49 | SUNITINIB | 2y7j | B | A51 G113 | B49 | SUNITINIB | 2y7j | C | A51 G113 | B49 | SUNITINIB | 2y7j | D | A51 G113 |
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| Conservation information for LBS of PHKG2 |
| Multiple alignments for P15735 in multiple species |
| LBS | AA sequence | # species | Species | A51 | TGHEFAVKIME | 1 | Homo sapiens | A51 | TGDEFAVKIME | 1 | Mus musculus | A51 | TGQEFAVKIME | 1 | Bos taurus | D108 | MFLVFDLMRKG | 3 | Homo sapiens, Mus musculus, Bos taurus | D117 | KGELFDYLTEK | 3 | Homo sapiens, Mus musculus, Bos taurus | D171 | QIRLSDFGFSC | 3 | Homo sapiens, Mus musculus, Bos taurus | F107 | FMFLVFDLMRK | 3 | Homo sapiens, Mus musculus, Bos taurus | G113 | DLMRKGELFDY | 3 | Homo sapiens, Mus musculus, Bos taurus | G31 | PKDVIGRGVSS | 2 | Homo sapiens, Bos taurus | G31 | PKDIIGRGVSS | 1 | Mus musculus | I30 | DPKDVIGRGVS | 2 | Homo sapiens, Bos taurus | I30 | DPKDIIGRGVS | 1 | Mus musculus | I91 | GHPHIITLIDS | 3 | Homo sapiens, Mus musculus, Bos taurus | L109 | FLVFDLMRKGE | 3 | Homo sapiens, Mus musculus, Bos taurus | L160 | KPENILLDDNM | 3 | Homo sapiens, Mus musculus, Bos taurus | M110 | LVFDLMRKGEL | 3 | Homo sapiens, Mus musculus, Bos taurus | R111 | VFDLMRKGELF | 3 | Homo sapiens, Mus musculus, Bos taurus | R32 | KDVIGRGVSSV | 2 | Homo sapiens, Bos taurus | R32 | KDIIGRGVSSV | 1 | Mus musculus | V29 | YDPKDVIGRGV | 2 | Homo sapiens, Bos taurus | V29 | YDPKDIIGRGV | 1 | Mus musculus |
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