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mutLBSgeneDB |
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| Gene summary for PANK2 |
 Gene summary |
| Basic gene Info. | Gene symbol | PANK2 |
| Gene name | pantothenate kinase 2 | |
| Synonyms | C20orf48|HARP|HSS|NBIA1|PKAN | |
| Cytomap | UCSC genome browser: 20p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_024960.4, NM_153638.2,NM_153640.2,NM_153637.1,NM_153639.1, NM_153641.1, | |
| Description | Hallervorden-Spatz syndromepantothenate kinase 2, mitochondrialpantothenic acid kinase 2 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 606157 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000125779 | ||
| Vega : OTTHUMG00000031768 | ||
| Protein | UniProt: Q9BZ23 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PANK2 | |
| BioGPS: 80025 | ||
| Pathway | NCI Pathway Interaction Database: PANK2 | |
| KEGG: PANK2 | ||
| REACTOME: PANK2 | ||
| Pathway Commons: PANK2 | ||
| Context | iHOP: PANK2 | |
| ligand binding site mutation search in PubMed: PANK2 | ||
| UCL Cancer Institute: PANK2 | ||
| 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 PANK2 |
| 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 | G219 | D217H | BRCA | 1 | Y458 | E459Q | HNSC | 1 | E338 | E338K | KIRC | 1 | R525 | N527H | KIRC | 1 | S392 | S392A | STAD | 1 | R407 | Y405C | UCEC | 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 PANK2 |
| 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 | E338 | E338K | -1.3213565 | Y458 | E459Q | -1.2841006 | R407 | Y405C | -1.1681953 | S392 | S392A | -0.98503437 | R525 | N527H | -0.72588485 | G219 | D217H | -0.57201364 |
| (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 PANK2 from PDB |
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| Differential gene expression and gene-gene network for PANK2 |
| 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 PANK2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0018523 | Pantothenate Kinase-Associated Neurodegeneration | 44 | Biomarker, GeneticVariation |
| umls:C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | 16 | Biomarker |
| umls:C0524851 | Neurodegenerative Diseases | 6 | Biomarker |
| umls:C1846582 | Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration | 2 | Biomarker, GeneticVariation |
| umls:C0027746 | Nerve Degeneration | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PANK2 |
| 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 PANK2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PAU | (R)-PANTOTHENIC ACID | 5e26 | A | E338 R407 | PAU | (R)-PANTOTHENIC ACID | 5e26 | B | E338 R407 | PAU | (R)-PANTOTHENIC ACID | 5e26 | C | E338 R407 | PAU | (R)-PANTOTHENIC ACID | 5e26 | D | E338 R407 | ADP | ADP | 5e26 | A | G219 S392 R525 | ADP | ADP | 5e26 | B | G219 S392 R525 | ADP | ADP | 5e26 | C | G219 S392 R525 | ADP | ADP | 5e26 | D | G219 S392 R525 | PAU | (R)-PANTOTHENIC ACID | 5e26 | C | Y458 |
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| Conservation information for LBS of PANK2 |
| Multiple alignments for Q9BZ23 in multiple species |
| LBS | AA sequence | # species | Species |
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